| GARD:17280 |
10q22.3q23.3 microdeletion syndrome |
| GARD:21052 |
10q22.3q23.3 microduplication syndrome |
| GARD:21232 |
11p15.4 microduplication syndrome |
| GARD:21858 |
11q22.2q22.3 microdeletion syndrome |
| GARD:17414 |
12p12.1 microdeletion syndrome |
| GARD:13390 |
12q14 microdeletion syndrome |
| GARD:21141 |
12q15q21.1 microdeletion syndrome |
| GARD:21737 |
13q12.3 microdeletion syndrome |
| GARD:17241 |
14q11.2 microdeletion syndrome |
| GARD:20773 |
14q11.2 microduplication syndrome |
| GARD:2384 |
14q22q23 microdeletion syndrome |
| GARD:21706 |
14q24.1q24.3 microdeletion syndrome |
| GARD:17890 |
14q32 duplication syndrome |
| GARD:17423 |
15q overgrowth syndrome |
| GARD:10525 |
15q11.2 microdeletion syndrome |
| GARD:17172 |
15q11q13 microduplication syndrome |
| GARD:10296 |
15q13.3 microdeletion syndrome |
| GARD:17242 |
15q14 microdeletion syndrome |
| GARD:12219 |
15q24 microdeletion syndrome |
| GARD:17243 |
16p11.2p12.2 microdeletion syndrome |
| GARD:20772 |
16p11.2p12.2 microduplication syndrome |
| GARD:21993 |
16p12.1p12.3 triplication syndrome |
| GARD:20774 |
16p13.11 microdeletion syndrome |
| GARD:20775 |
16p13.11 microduplication syndrome |
| GARD:17920 |
16p13.2 microdeletion syndrome |
| GARD:10755 |
16p13.3 microduplication syndrome |
| GARD:21523 |
16q24.1 microdeletion syndrome |
| GARD:10935 |
16q24.3 microdeletion syndrome |
| GARD:10145 |
17p11.2 microduplication syndrome |
| GARD:17122 |
17p13.3 microduplication syndrome |
| GARD:5408 |
17q11 microdeletion syndrome |
| GARD:16952 |
17q11.2 microduplication syndrome |
| GARD:13297 |
17q12 microdeletion syndrome |
| GARD:13296 |
17q12 microduplication syndrome |
| GARD:17576 |
17q21.31 microdeletion syndrome |
| GARD:17121 |
17q21.31 microduplication syndrome |
| GARD:10936 |
17q23.1q23.2 microdeletion syndrome |
| GARD:22202 |
17q24.2 microdeletion syndrome |
| GARD:10991 |
19p13.12 microdeletion syndrome |
| GARD:17542 |
19p13.13 microdeletion syndrome |
| GARD:21875 |
19p13.3 microduplication syndrome |
| GARD:10592 |
19q13.11 microdeletion syndrome |
| GARD:21173 |
1p21.3 microdeletion syndrome |
| GARD:17668 |
1p31p32 microdeletion syndrome |
| GARD:21898 |
1p35.2 microdeletion syndrome |
| GARD:6082 |
1p36 deletion syndrome |
| GARD:10813 |
1q21.1 microdeletion syndrome |
| GARD:10591 |
1q21.1 microduplication syndrome |
| GARD:3738 |
1q41q42 microdeletion syndrome |
| GARD:10943 |
1q44 microdeletion syndrome |
| GARD:16708 |
2-aminoadipic 2-oxoadipic aciduria |
| GARD:10761 |
2-hydroxyglutaric aciduria |
| GARD:10322 |
2-methylbutyryl-CoA dehydrogenase deficiency |
| GARD:12492 |
20p12.3 microdeletion syndrome |
| GARD:21360 |
20p13 microdeletion syndrome |
| GARD:21859 |
20q11.2 microdeletion syndrome |
| GARD:21556 |
20q11.2 microduplication syndrome |
| GARD:20778 |
20q13.33 microdeletion syndrome |
| GARD:20779 |
21q22.11q22.12 microdeletion syndrome |
| GARD:10299 |
22q11.2 deletion syndrome |
| GARD:10557 |
22q11.2 duplication syndrome |
| GARD:21557 |
2p13.2 microdeletion syndrome |
| GARD:13391 |
2p15p16.1 microdeletion syndrome |
| GARD:16999 |
2p21 microdeletion syndrome |
| GARD:21581 |
2p21 microdeletion syndrome without cystinuria |
| GARD:10998 |
2q23.1 microdeletion syndrome |
| GARD:21363 |
2q23.1 microduplication syndrome |
| GARD:3746 |
2q24 microdeletion syndrome |
| GARD:20690 |
2q31.1 microdeletion syndrome |
| GARD:13206 |
2q32q33 microdeletion syndrome |
| GARD:10202 |
2q37 microdeletion syndrome |
| GARD:8387 |
3-hydroxy-3-methylglutaric aciduria |
| GARD:2712 |
3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| GARD:21319 |
3-hydroxyacyl-CoA dehydrogenase deficiency |
| GARD:5662 |
3-hydroxyisobutyric aciduria |
| GARD:10954 |
3-methylcrotonyl-CoA carboxylase deficiency |
| GARD:5665 |
3-methylcrotonyl-coa carboxylase 1 deficiency |
| GARD:9151 |
3-methylcrotonyl-coa carboxylase 2 deficiency |
| GARD:12966 |
3-methylglutaconic aciduria |
| GARD:10321 |
3-methylglutaconic aciduria type 1 |
| GARD:5663 |
3-methylglutaconic aciduria type 3 |
| GARD:10342 |
3-methylglutaconic aciduria type 4 |
| GARD:17767 |
3-methylglutaconic aciduria type 7 |
| GARD:22050 |
3-methylglutaconic aciduria type 8 |
| GARD:17940 |
3-methylglutaconic aciduria type 9 |
| GARD:16718 |
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form |
| GARD:16717 |
3-phosphoserine phosphatase deficiency, infantile/juvenile form |
| GARD:5666 |
3C syndrome |
| GARD:5667 |
3M syndrome |
| GARD:1118 |
3MC syndrome |
| GARD:4049 |
3mc syndrome 1 |
| GARD:18428 |
3mc syndrome 2 |
| GARD:8531 |
3mc syndrome 3 |
| GARD:21813 |
3p25.3 microdeletion syndrome |
| GARD:16573 |
3q13 microdeletion syndrome |
| GARD:19311 |
3q26 microduplication syndrome |
| GARD:21534 |
3q26q27 microdeletion syndrome |
| GARD:21633 |
3q27.3 microdeletion syndrome |
| GARD:11974 |
3q29 microdeletion syndrome |
| GARD:10360 |
3q29 microduplication syndrome |
| GARD:18747 |
45,X/46,XY mixed gonadal dysgenesis |
| GARD:21463 |
46,XX disorder of gonadal development |
| GARD:18783 |
46,XX disorder of sex development |
| GARD:19409 |
46,XX disorder of sex development induced by androgens excess |
| GARD:21465 |
46,XX disorder of sex development induced by endogenous maternal-derived androgen |
| GARD:21466 |
46,XX disorder of sex development induced by exogenous maternal-derived androgen |
| GARD:19148 |
46,XX disorder of sex development induced by fetal androgens excess |
| GARD:21464 |
46,XX disorder of sex development induced by fetoplacental androgens excess |
| GARD:19156 |
46,XX disorder of sex development induced by maternal-derived androgen |
| GARD:18782 |
46,XX disorder of sex development-anorectal anomalies syndrome |
| GARD:16617 |
46,XX disorder of sex development-skeletal anomalies syndrome |
| GARD:5671 |
46,XX gonadal dysgenesis |
| GARD:17760 |
46,XX ovarian dysgenesis-short stature syndrome |
| GARD:16585 |
46,XX ovotesticular disorder of sex development |
| GARD:399 |
46,XX testicular disorder of sex development |
| GARD:5068 |
46,XY complete gonadal dysgenesis |
| GARD:21468 |
46,XY disorder of gonadal development |
| GARD:8538 |
46,XY disorder of sex development |
| GARD:5659 |
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency |
| GARD:5680 |
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency |
| GARD:21472 |
46,XY disorder of sex development due to a cholesterol synthesis defect |
| GARD:19410 |
46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue |
| GARD:19149 |
46,XY disorder of sex development due to a testosterone synthesis defect |
| GARD:19150 |
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect |
| GARD:21471 |
46,XY disorder of sex development due to impaired androgen production |
| GARD:16794 |
46,XY disorder of sex development due to isolated 17,20-lyase deficiency |
| GARD:17752 |
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency |
| GARD:19151 |
46,XY disorder of sex development due to testicular steroidogenesis defect |
| GARD:21475 |
46,XY disorder of sex development induced by maternal exposure to endocrine disruptors |
| GARD:21470 |
46,XY disorder of sex development of endocrine origin |
| GARD:21478 |
46,XY disorder of sex development of gynecological interest |
| GARD:17033 |
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| GARD:21848 |
46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect |
| GARD:17034 |
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome |
| GARD:21469 |
46,XY ovotesticular disorder of sex development |
| GARD:17211 |
46,XY partial gonadal dysgenesis |
| GARD:15249 |
46,xx sex reversal 2 |
| GARD:15267 |
46,xx sex reversal 3 |
| GARD:16109 |
46,xy sex reversal 10 |
| GARD:9159 |
46,xy sex reversal 2 |
| GARD:15598 |
46,xy sex reversal 3 |
| GARD:15083 |
46,xy sex reversal 4 |
| GARD:15611 |
46,xy sex reversal 5 |
| GARD:15703 |
46,xy sex reversal 6 |
| GARD:15174 |
46,xy sex reversal 7 |
| GARD:18361 |
46,xy sex reversal 9 |
| GARD:5674 |
47,XYY syndrome |
| GARD:5676 |
48,XXXY syndrome |
| GARD:5677 |
48,XXYY syndrome |
| GARD:11985 |
48,XYYY syndrome |
| GARD:5679 |
49,XXXXY syndrome |
| GARD:10922 |
49,XXXYY syndrome |
| GARD:19679 |
49,XYYYY syndrome |
| GARD:21140 |
4H leukodystrophy |
| GARD:19306 |
4p16.3 microduplication syndrome |
| GARD:17181 |
4q21 microdeletion syndrome |
| GARD:22048 |
4q25 proximal deletion syndrome |
| GARD:20509 |
5-fluorouracil poisoning |
| GARD:5681 |
5-oxoprolinase deficiency |
| GARD:17505 |
5p13 microduplication syndrome |
| GARD:12166 |
5q14.3 microdeletion syndrome |
| GARD:20595 |
5q35 microduplication syndrome |
| GARD:16897 |
6-phosphogluconate dehydrogenase deficiency |
| GARD:5682 |
6-pyruvoyl-tetrahydropterin synthase deficiency |
| GARD:20691 |
6p22 microdeletion syndrome |
| GARD:18931 |
6q terminal deletion syndrome |
| GARD:20126 |
6q16 microdeletion syndrome |
| GARD:3764 |
6q25 microdeletion syndrome |
| GARD:21367 |
7p22.1 microduplication syndrome |
| GARD:12076 |
7q11.23 microduplication syndrome |
| GARD:20692 |
7q31 microdeletion syndrome |
| GARD:19309 |
8p inverted duplication/deletion syndrome |
| GARD:20693 |
8p11.2 deletion syndrome |
| GARD:10304 |
8p23.1 duplication syndrome |
| GARD:3769 |
8p23.1 microdeletion syndrome |
| GARD:12816 |
8q12 microduplication syndrome |
| GARD:17310 |
8q21.11 microdeletion syndrome |
| GARD:4722 |
8q22.1 microdeletion syndrome |
| GARD:12814 |
8q24.3 microdeletion syndrome |
| GARD:21437 |
9p13 microdeletion syndrome |
| GARD:22212 |
9q21.13 microdeletion syndrome |
| GARD:21705 |
9q31.1q31.3 microdeletion syndrome |
| GARD:22009 |
9q33.3q34.11 microdeletion syndrome |
| GARD:10560 |
AA amyloidosis |
| GARD:19224 |
AApoAI amyloidosis |
| GARD:20631 |
AApoAII amyloidosis |
| GARD:21828 |
AApoAIV amyloidosis |
| GARD:17493 |
ABeta amyloidosis, Arctic type |
| GARD:16929 |
ABeta amyloidosis, Dutch type |
| GARD:17490 |
ABeta amyloidosis, Iowa type |
| GARD:17491 |
ABeta amyloidosis, Italian type |
| GARD:21829 |
ABeta2M amyloidosis |
| GARD:17492 |
ABetaA21G amyloidosis |
| GARD:17489 |
ABetaL34V amyloidosis |
| GARD:8344 |
ABri amyloidosis |
| GARD:19699 |
ACTH-dependent Cushing syndrome |
| GARD:19700 |
ACTH-independent Cushing syndrome |
| GARD:21856 |
ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor |
| GARD:16930 |
ACys amyloidosis |
| GARD:12931 |
ADNP syndrome |
| GARD:384 |
ADULT syndrome |
| GARD:9169 |
ADan amyloidosis |
| GARD:19226 |
AFib amyloidosis |
| GARD:2339 |
AGel amyloidosis |
| GARD:21847 |
AH amyloidosis |
| GARD:13409 |
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome |
| GARD:13781 |
AICA-ribosiduria |
| GARD:19122 |
AIDS wasting syndrome |
| GARD:12599 |
AKT2-related familial partial lipodystrophy |
| GARD:5797 |
AL amyloidosis |
| GARD:16638 |
ALDH18A1-related De Barsy syndrome |
| GARD:21827 |
ALECT2 amyloidosis |
| GARD:9838 |
ALG1-CDG |
| GARD:12396 |
ALG11-CDG |
| GARD:9833 |
ALG12-CDG |
| GARD:12401 |
ALG13-CDG |
| GARD:9836 |
ALG2-CDG |
| GARD:9827 |
ALG3-CDG |
| GARD:9829 |
ALG6-CDG |
| GARD:9834 |
ALG8-CDG |
| GARD:9839 |
ALG9-CDG |
| GARD:21252 |
ALK-negative anaplastic large cell lymphoma |
| GARD:21251 |
ALK-positive anaplastic large cell lymphoma |
| GARD:21564 |
ALK-positive large B-cell lymphoma |
| GARD:22400 |
ALPI-related inflammatory bowel disease |
| GARD:19225 |
ALys amyloidosis |
| GARD:16987 |
ANE syndrome |
| GARD:17541 |
ANK3-related intellectual disability-sleep disturbance syndrome |
| GARD:17197 |
APC-related attenuated familial adenomatous polyposis |
| GARD:8509 |
AREDYLD syndrome |
| GARD:21753 |
ARX-related encephalopathy-brain malformation spectrum |
| GARD:20241 |
ARX-related epileptic encephalopathy |
| GARD:17427 |
ATP13A2-related juvenile neuronal ceroid lipofuscinosis |
| GARD:22077 |
ATP13A2-related parkinsonism |
| GARD:16755 |
ATTRV122I amyloidosis |
| GARD:16754 |
ATTRV30M amyloidosis |
| GARD:15002 |
AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY |
| GARD:21703 |
AXIN2-related attenuated familial adenomatous polyposis |
| GARD:15029 |
Aarskog syndrome, autosomal dominant |
| GARD:4775 |
Aarskog-Scott syndrome |
| GARD:5642 |
Aase-Smith syndrome |
| GARD:15127 |
Abetalipoproteinemia |
| GARD:5 |
Abetalipoproteinemia |
| GARD:3 |
Ablepharon macrostomia syndrome |
| GARD:19644 |
Abnormal number of coronary ostia |
| GARD:4586 |
Abnormal origin of right or left pulmonary artery from the aorta |
| GARD:18717 |
Abnormal origin of the pulmonary artery |
| GARD:360 |
Abruzzo-Erickson syndrome |
| GARD:16593 |
Absence deformity of leg-cataract syndrome |
| GARD:2336 |
Absence of fingerprints-congenital milia syndrome |
| GARD:19655 |
Absence of innominate vein |
| GARD:18712 |
Absence of the pulmonary artery |
| GARD:20185 |
Absence of uterine body |
| GARD:4633 |
Absent radius-anogenital anomalies syndrome |
| GARD:16615 |
Absent thumb-short stature-immunodeficiency syndrome |
| GARD:5210 |
Absent tibia-polydactyly-arachnoid cyst syndrome |
| GARD:361 |
Acalvaria |
| GARD:5485 |
Acanthokeratolytic verrucous nevus |
| GARD:453 |
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome |
| GARD:363 |
Acatalasemia |
| GARD:19628 |
Accessory mitral valve tissue |
| GARD:454 |
Accessory pancreas |
| GARD:19264 |
Accessory tricuspid valve tissue |
| GARD:9499 |
Aceruloplasminemia |
| GARD:16906 |
Acetazolamide-responsive myotonia |
| GARD:455 |
Achalasia, familial esophageal |
| GARD:456 |
Achalasia-microcephaly syndrome |
| GARD:21196 |
Acheiria |
| GARD:376 |
Acheiropodia |
| GARD:2882 |
Achondrogenesis |
| GARD:459 |
Achondrogenesis type 1A |
| GARD:460 |
Achondrogenesis type 1B |
| GARD:8713 |
Achondrogenesis type 2 |
| GARD:8173 |
Achondroplasia |
| GARD:15015 |
Achromatopsia |
| GARD:9649 |
Achromatopsia 2 |
| GARD:9650 |
Achromatopsia 3 |
| GARD:15723 |
Achromatopsia 4 |
| GARD:16129 |
Achromatopsia 7 |
| GARD:22457 |
Acid sphingomyelinase deficiency |
| GARD:21777 |
Acinar cell carcinoma of pancreas |
| GARD:18827 |
Acitretin/etretinate embryopathy |
| GARD:17788 |
Acquired Creutzfeldt-Jakob disease |
| GARD:20418 |
Acquired amyloid peripheral neuropathy |
| GARD:19114 |
Acquired aneurysmal subarachnoid hemorrhage |
| GARD:8605 |
Acquired angioedema |
| GARD:19748 |
Acquired angioedema type 1 |
| GARD:19747 |
Acquired angioedema type 2 |
| GARD:22196 |
Acquired angioedema with C1Inh deficiency |
| GARD:20656 |
Acquired ataxia |
| GARD:19291 |
Acquired central diabetes insipidus |
| GARD:19805 |
Acquired chronic primary adrenal insufficiency |
| GARD:20586 |
Acquired cutis laxa |
| GARD:21722 |
Acquired cystic disease-associated renal cell carcinoma |
| GARD:20575 |
Acquired dermis elastic tissue disorder |
| GARD:20576 |
Acquired dermis elastic tissue disorder with decreased elastic tissue |
| GARD:20577 |
Acquired dermis elastic tissue disorder with increased elastic tissue |
| GARD:22408 |
Acquired factor V deficiency |
| GARD:22409 |
Acquired factor VII deficiency |
| GARD:22410 |
Acquired factor X deficiency |
| GARD:22411 |
Acquired factor XI deficiency |
| GARD:22412 |
Acquired factor XIII deficiency |
| GARD:12603 |
Acquired generalized lipodystrophy |
| GARD:20027 |
Acquired hemophagocytic lymphohistiocytosis associated with malignant disease |
| GARD:6405 |
Acquired hemophilia A |
| GARD:22407 |
Acquired hemophilia B |
| GARD:22328 |
Acquired human prion disease |
| GARD:2864 |
Acquired hypertrichosis lanuginosa |
| GARD:476 |
Acquired ichthyosis |
| GARD:8249 |
Acquired idiopathic sideroblastic anemia |
| GARD:21359 |
Acquired immunodeficiency |
| GARD:18826 |
Acquired kinky hair syndrome |
| GARD:12602 |
Acquired lipodystrophy |
| GARD:21930 |
Acquired methemoglobinemia |
| GARD:19154 |
Acquired monoclonal Ig light chain-associated Fanconi syndrome |
| GARD:19479 |
Acquired motor neuron disease |
| GARD:19474 |
Acquired neuromuscular junction disease |
| GARD:20167 |
Acquired neutropenia |
| GARD:10509 |
Acquired partial lipodystrophy |
| GARD:20543 |
Acquired peripheral movement disorder |
| GARD:20243 |
Acquired peripheral neuropathy |
| GARD:19278 |
Acquired pituitary hormone deficiency |
| GARD:21386 |
Acquired porencephaly |
| GARD:19293 |
Acquired premature ovarian failure |
| GARD:475 |
Acquired prothrombin deficiency |
| GARD:20581 |
Acquired pseudoxanthoma elasticum |
| GARD:18838 |
Acquired purpura fulminans |
| GARD:17879 |
Acquired schizencephaly |
| GARD:20636 |
Acquired secondary polycythemia |
| GARD:20412 |
Acquired sensory ganglionopathy |
| GARD:20359 |
Acquired skeletal muscle disease |
| GARD:5573 |
Acquired von Willebrand syndrome |
| GARD:12863 |
Acral peeling skin syndrome |
| GARD:19140 |
Acral persistent papular mucinosis |
| GARD:21108 |
Acral self-healing collodion baby |
| GARD:480 |
Acro-renal-mandibular syndrome |
| GARD:16551 |
Acro-renal-ocular syndrome |
| GARD:5721 |
Acrocallosal syndrome |
| GARD:10605 |
Acrocapitofemoral dysplasia |
| GARD:1167 |
Acrocardiofacial syndrome |
| GARD:2096 |
Acrocephalopolydactyly |
| GARD:3075 |
Acrocraniofacial dysostosis |
| GARD:20052 |
Acrodermatitis continua of Hallopeau |
| GARD:5723 |
Acrodermatitis enteropathica |
| GARD:5724 |
Acrodysostosis |
| GARD:15030 |
Acrodysostosis 1 with or without hormone resistance |
| GARD:15823 |
Acrodysostosis 2 with or without hormone resistance |
| GARD:17300 |
Acrodysostosis with multiple hormone resistance |
| GARD:491 |
Acrodysplasia scoliosis |
| GARD:21574 |
Acrofacial dysostosis |
| GARD:494 |
Acrofacial dysostosis, Catania type |
| GARD:18859 |
Acrofacial dysostosis, Kennedy-Teebi type |
| GARD:499 |
Acrofacial dysostosis, Palagonia type |
| GARD:496 |
Acrofacial dysostosis, Rodríguez type |
| GARD:497 |
Acrofacial dysostosis, Weyers type |
| GARD:16117 |
Acrofacial dysostosis, cincinnati type |
| GARD:484 |
Acrofrontofacionasal dysostosis |
| GARD:6543 |
Acrogeria |
| GARD:18987 |
Acrokeratoderma |
| GARD:125 |
Acrokeratoelastoidosis of Costa |
| GARD:16707 |
Acrokeratosis verruciformis of Hopf |
| GARD:5725 |
Acromegaly |
| GARD:4500 |
Acromelanosis |
| GARD:19194 |
Acromelic dysplasia |
| GARD:5539 |
Acromelic frontonasal dysplasia |
| GARD:6 |
Acromesomelic dysplasia |
| GARD:1300 |
Acromesomelic dysplasia, Grebe type |
| GARD:506 |
Acromesomelic dysplasia, Hunter-Thompson type |
| GARD:507 |
Acromesomelic dysplasia, Maroteaux type |
| GARD:7 |
Acromicric dysplasia |
| GARD:15031 |
Acroosteolysis |
| GARD:4276 |
Acroosteolysis-keloid-like lesions-premature aging syndrome |
| GARD:4559 |
Acrootoocular syndrome |
| GARD:8485 |
Acropectoral syndrome |
| GARD:512 |
Acropectorovertebral dysplasia |
| GARD:514 |
Acrorenal syndrome |
| GARD:15130 |
Acrorenal syndrome, autosomal recessive |
| GARD:16034 |
Acth-independent macronodular adrenal hyperplasia 2 |
| GARD:12673 |
Actinic lichen planus |
| GARD:17510 |
Actinic prurigo |
| GARD:5728 |
Actinomycosis |
| GARD:17000 |
Action myoclonus-renal failure syndrome |
| GARD:11983 |
Activated PI3K-delta syndrome |
| GARD:9299 |
Acute ackee fruit intoxication |
| GARD:19257 |
Acute adrenal insufficiency |
| GARD:20386 |
Acute and subacute inflammatory demyelinating polyneuropathy |
| GARD:21121 |
Acute annular outer retinopathy |
| GARD:19071 |
Acute basophilic leukemia |
| GARD:22197 |
Acute bilirubin encephalopathy |
| GARD:8639 |
Acute disseminated encephalomyelitis |
| GARD:22378 |
Acute disseminated encephalomyelitis with anti-MOG antibodies |
| GARD:22379 |
Acute disseminated encephalomyelitis without anti-MOG antibodies |
| GARD:21552 |
Acute encephalopathy with biphasic seizures and late reduced diffusion |
| GARD:21553 |
Acute encephalopathy with inflammation-mediated status epilepticus |
| GARD:21059 |
Acute endophthalmitis |
| GARD:9620 |
Acute erythroid leukemia |
| GARD:9578 |
Acute fatty liver of pregnancy |
| GARD:13142 |
Acute flaccid myelitis |
| GARD:21164 |
Acute generalized exanthematous pustulosis |
| GARD:6544 |
Acute graft versus host disease |
| GARD:19255 |
Acute hepatic porphyria |
| GARD:10593 |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| GARD:17833 |
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| GARD:13114 |
Acute infantile liver failure-multisystemic involvement syndrome |
| GARD:16873 |
Acute inflammatory demyelinating polyradiculoneuropathy |
| GARD:5732 |
Acute intermittent porphyria |
| GARD:12835 |
Acute interstitial pneumonia |
| GARD:8638 |
Acute leukemia of ambiguous lineage |
| GARD:19112 |
Acute liver failure |
| GARD:20146 |
Acute lung injury |
| GARD:522 |
Acute lymphoblastic leukemia |
| GARD:22000 |
Acute macular neuroretinopathy |
| GARD:22276 |
Acute mast cell leukemia |
| GARD:524 |
Acute megakaryoblastic leukemia |
| GARD:19697 |
Acute megakaryoblastic leukemia in Down syndrome |
| GARD:21490 |
Acute megakaryoblastic leukemia without Down syndrome |
| GARD:525 |
Acute monoblastic/monocytic leukemia |
| GARD:19601 |
Acute motor and sensory axonal neuropathy |
| GARD:19602 |
Acute motor axonal neuropathy |
| GARD:527 |
Acute myeloblastic leukemia with maturation |
| GARD:526 |
Acute myeloblastic leukemia without maturation |
| GARD:12761 |
Acute myeloid leukaemia with myelodysplasia-related features |
| GARD:12757 |
Acute myeloid leukemia |
| GARD:19835 |
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent |
| GARD:20057 |
Acute myeloid leukemia and myelodysplastic syndromes related to radiation |
| GARD:19836 |
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor |
| GARD:19587 |
Acute myeloid leukemia with 11q23 abnormalities |
| GARD:17451 |
Acute myeloid leukemia with CEBPA somatic mutations |
| GARD:21713 |
Acute myeloid leukemia with NPM1 somatic mutations |
| GARD:536 |
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) |
| GARD:12759 |
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) |
| GARD:19588 |
Acute myeloid leukemia with minimal differentiation |
| GARD:12758 |
Acute myeloid leukemia with recurrent genetic anomaly |
| GARD:21710 |
Acute myeloid leukemia with t(6;9)(p23;q34) |
| GARD:21588 |
Acute myeloid leukemia with t(8;16)(p11;p13) translocation |
| GARD:19837 |
Acute myeloid leukemia with t(8;21)(q22;q22) translocation |
| GARD:21711 |
Acute myeloid leukemia with t(9;11)(p22;q23) |
| GARD:22340 |
Acute myeloid leukemia with t(9;22)(q34.1;q11.2) |
| GARD:529 |
Acute myelomonocytic leukemia |
| GARD:17257 |
Acute necrotizing encephalopathy of childhood |
| GARD:20659 |
Acute neonatal citrullinemia type I |
| GARD:18817 |
Acute opioid poisoning |
| GARD:20617 |
Acute pandysautonomia |
| GARD:11907 |
Acute panmyelosis with myelofibrosis |
| GARD:19113 |
Acute peripheral arterial occlusion |
| GARD:18830 |
Acute poisoning by drugs with membrane-stabilizing effect |
| GARD:538 |
Acute promyelocytic leukemia |
| GARD:20616 |
Acute pure sensory neuropathy |
| GARD:21896 |
Acute radiation syndrome |
| GARD:18035 |
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate |
| GARD:12927 |
Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma |
| GARD:20618 |
Acute sensory ataxic neuropathy |
| GARD:19913 |
Acute transverse myelitis |
| GARD:22375 |
Acute transverse myelitis with anti-MOG antibodies |
| GARD:18829 |
Acute tricyclic antidepressant poisoning |
| GARD:16863 |
Acute undifferentiated leukemia |
| GARD:8640 |
Acute zonal occult outer retinopathy |
| GARD:12986 |
Acyl-CoA dehydrogenase 9 deficiency |
| GARD:21318 |
Acyl-CoA dehydrogenase deficiency |
| GARD:16660 |
Adamantinoma |
| GARD:5739 |
Adams-Oliver syndrome |
| GARD:15775 |
Adams-oliver syndrome 2 |
| GARD:15842 |
Adams-oliver syndrome 3 |
| GARD:15941 |
Adams-oliver syndrome 4 |
| GARD:16049 |
Adams-oliver syndrome 5 |
| GARD:16142 |
Adams-oliver syndrome 6 |
| GARD:5740 |
Addison disease |
| GARD:10277 |
Adducted thumbs-arthrogryposis syndrome, Christian type |
| GARD:546 |
Adenine phosphoribosyltransferase deficiency |
| GARD:20466 |
Adenocarcinoma of ovary |
| GARD:21773 |
Adenocarcinoma of the anal canal |
| GARD:20488 |
Adenocarcinoma of the cervix uteri |
| GARD:16927 |
Adenocarcinoma of the esophagus |
| GARD:21791 |
Adenocarcinoma of the gallbladder and extrahepatic biliary tract |
| GARD:21787 |
Adenocarcinoma of the liver and intrahepatic biliary tract |
| GARD:21638 |
Adenocarcinoma of the penis |
| GARD:19851 |
Adenocarcinoma of the small intestine |
| GARD:19284 |
Adenohypophysitis |
| GARD:20499 |
Adenoid basal carcinoma of the cervix uteri |
| GARD:20498 |
Adenoid cystic carcinoma of the cervix uteri |
| GARD:4204 |
Adenoma of pancreas |
| GARD:20492 |
Adenosarcoma of the cervix uteri |
| GARD:20473 |
Adenosarcoma of the corpus uteri |
| GARD:547 |
Adenosine monophosphate deaminase deficiency |
| GARD:19153 |
Adenovirus infection in immunocompromised patients |
| GARD:550 |
Adenylosuccinate lyase deficiency |
| GARD:17878 |
Adenylosuccinate synthetase-like 1-related distal myopathy |
| GARD:5750 |
Adiposis dolorosa |
| GARD:19438 |
Adolescent-onset epilepsy syndrome |
| GARD:22385 |
Adrenal hypoplasia congenita |
| GARD:15131 |
Adrenal hypoplasia, cytomegalic type |
| GARD:19765 |
Adrenal/paraganglial tumor |
| GARD:558 |
Adrenocortical carcinoma |
| GARD:20621 |
Adrenocortical carcinoma with pure aldosterone hypersecretion |
| GARD:15132 |
Adrenocortical carcinoma, hereditary |
| GARD:15033 |
Adrenocortical hypofunction, chronic primary congenital |
| GARD:15133 |
Adrenocortical unresponsiveness to acth with postreceptor defect |
| GARD:20226 |
Adrenogenital syndrome |
| GARD:10614 |
Adrenomyeloneuropathy |
| GARD:562 |
Adrenomyodystrophy |
| GARD:20345 |
Adult Krabbe disease |
| GARD:19076 |
Adult T-cell leukemia/lymphoma |
| GARD:18902 |
Adult acute respiratory distress syndrome |
| GARD:18777 |
Adult familial nephronophthisis-spastic quadriparesia syndrome |
| GARD:6608 |
Adult hepatocellular carcinoma |
| GARD:17193 |
Adult hypophosphatasia |
| GARD:16605 |
Adult idiopathic neutropenia |
| GARD:20152 |
Adult intestinal botulism |
| GARD:10973 |
Adult neuronal ceroid lipofuscinosis |
| GARD:108 |
Adult polyglucosan body disease |
| GARD:22364 |
Adult-onset Steinert myotonic dystrophy |
| GARD:436 |
Adult-onset Still disease |
| GARD:10587 |
Adult-onset autosomal dominant leukodystrophy |
| GARD:17314 |
Adult-onset autosomal recessive cerebellar ataxia |
| GARD:17235 |
Adult-onset autosomal recessive sideroblastic anemia |
| GARD:17694 |
Adult-onset cervical dystonia, DYT23 type |
| GARD:17503 |
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy |
| GARD:20660 |
Adult-onset citrullinemia type I |
| GARD:21492 |
Adult-onset distal myopathy due to VCP mutation |
| GARD:12568 |
Adult-onset dystonia-parkinsonism |
| GARD:10909 |
Adult-onset foveomacular vitelliform dystrophy |
| GARD:11992 |
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies |
| GARD:17501 |
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency |
| GARD:21623 |
Adult-onset myasthenia gravis |
| GARD:12824 |
Adult-onset nemaline myopathy |
| GARD:15368 |
Advanced sleep phase syndrome, familial, 1 |
| GARD:15922 |
Advanced sleep phase syndrome, familial, 2 |
| GARD:16165 |
Advanced sleep phase syndrome, familial, 3 |
| GARD:8495 |
African iron overload |
| GARD:19781 |
African tick typhus |
| GARD:7826 |
African trypanosomiasis |
| GARD:20320 |
Agammaglobulinemia |
| GARD:15672 |
Agammaglobulinemia 2, autosomal recessive |
| GARD:15673 |
Agammaglobulinemia 3, autosomal recessive |
| GARD:15674 |
Agammaglobulinemia 4, autosomal recessive |
| GARD:15675 |
Agammaglobulinemia 5, autosomal dominant |
| GARD:15579 |
Agammaglobulinemia 6, autosomal recessive |
| GARD:15918 |
Agammaglobulinemia 7, autosomal recessive |
| GARD:16171 |
Agammaglobulinemia 8a, autosomal dominant |
| GARD:10011 |
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome |
| GARD:19657 |
Agenesis of the superior vena cava |
| GARD:21576 |
Aggrecan-related bone disorder |
| GARD:21245 |
Aggressive B-cell non-Hodgkin lymphoma |
| GARD:10493 |
Aggressive NK-cell leukemia |
| GARD:20163 |
Aggressive primary cutaneous B-cell lymphoma |
| GARD:20162 |
Aggressive primary cutaneous T-cell lymphoma |
| GARD:19597 |
Aggressive systemic mastocytosis |
| GARD:9126 |
Agnathia-holoprosencephaly-situs inversus syndrome |
| GARD:5764 |
Aicardi syndrome |
| GARD:575 |
Aicardi-Goutières syndrome |
| GARD:15167 |
Aicardi-goutieres syndrome 1 |
| GARD:15472 |
Aicardi-goutieres syndrome 2 |
| GARD:15479 |
Aicardi-goutieres syndrome 3 |
| GARD:15480 |
Aicardi-goutieres syndrome 4 |
| GARD:10151 |
Aicardi-goutieres syndrome 5 |
| GARD:15894 |
Aicardi-goutieres syndrome 6 |
| GARD:16021 |
Aicardi-goutieres syndrome 7 |
| GARD:12404 |
Alacrima, achalasia, and mental retardation syndrome |
| GARD:18165 |
Alacrima, congenital, autosomal dominant |
| GARD:18166 |
Alacrima, congenital, autosomal recessive |
| GARD:12315 |
Alacrimia-choreoathetosis-liver dysfunction syndrome |
| GARD:804 |
Alagille syndrome |
| GARD:17250 |
Alagille syndrome due to 20p12 microdeletion |
| GARD:17251 |
Alagille syndrome due to a JAG1 point mutation |
| GARD:17252 |
Alagille syndrome due to a NOTCH2 point mutation |
| GARD:588 |
Alar cartilages hypoplasia-coloboma-telecanthus syndrome |
| GARD:17468 |
Alazami syndrome |
| GARD:383 |
Albers-Schönberg osteopetrosis |
| GARD:589 |
Albinism-deafness syndrome |
| GARD:5774 |
Alexander disease |
| GARD:17572 |
Alexander disease type I |
| GARD:17573 |
Alexander disease type II |
| GARD:17936 |
Alkaline ceramidase 3 deficiency |
| GARD:5775 |
Alkaptonuria |
| GARD:5617 |
Allan-Herndon-Dudley syndrome |
| GARD:602 |
Allergic bronchopulmonary aspergillosis |
| GARD:15034 |
Allergic bronchopulmonary aspergillosis, familial |
| GARD:16831 |
Alobar holoprosencephaly |
| GARD:18995 |
Alopecia |
| GARD:18713 |
Alopecia antibody deficiency |
| GARD:15035 |
Alopecia areata 1 |
| GARD:15496 |
Alopecia areata 2 |
| GARD:613 |
Alopecia totalis |
| GARD:614 |
Alopecia universalis |
| GARD:15135 |
Alopecia universalis congenita |
| GARD:1470 |
Alopecia, congenital |
| GARD:605 |
Alopecia-contractures-dwarfism-intellectual disability syndrome |
| GARD:607 |
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome |
| GARD:612 |
Alopecia-intellectual disability syndrome |
| GARD:4291 |
Alopecia-intellectual disability syndrome 2 |
| GARD:15730 |
Alopecia-intellectual disability syndrome 3 |
| GARD:16386 |
Alopecia-intellectual disability syndrome 4 |
| GARD:16553 |
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome |
| GARD:5783 |
Alpers-Huttenlocher syndrome |
| GARD:5034 |
Alpha delta granule deficiency |
| GARD:19469 |
Alpha granule disease |
| GARD:5784 |
Alpha-1-antitrypsin deficiency |
| GARD:17651 |
Alpha-B crystallin-related late-onset myopathy |
| GARD:16621 |
Alpha-N-acetylgalactosaminidase deficiency |
| GARD:116 |
Alpha-N-acetylgalactosaminidase deficiency type 1 |
| GARD:9161 |
Alpha-N-acetylgalactosaminidase deficiency type 2 |
| GARD:3903 |
Alpha-N-acetylgalactosaminidase deficiency type 3 |
| GARD:19600 |
Alpha-crystallinopathy |
| GARD:12541 |
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 |
| GARD:19742 |
Alpha-heavy chain disease |
| GARD:6968 |
Alpha-mannosidosis |
| GARD:17408 |
Alpha-mannosidosis, adult form |
| GARD:17407 |
Alpha-mannosidosis, infantile form |
| GARD:15787 |
Alpha-methylacyl-coa racemase deficiency |
| GARD:438 |
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 |
| GARD:621 |
Alpha-thalassemia |
| GARD:21022 |
Alpha-thalassemia and related disorders |
| GARD:5864 |
Alpha-thalassemia-X-linked intellectual disability syndrome |
| GARD:16862 |
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 |
| GARD:17167 |
Alpha-thalassemia-myelodysplastic syndrome |
| GARD:5785 |
Alport syndrome |
| GARD:16761 |
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome |
| GARD:5787 |
Alström syndrome |
| GARD:20446 |
Alternating hemiplegia |
| GARD:11 |
Alternating hemiplegia of childhood |
| GARD:15036 |
Alternating hemiplegia of childhood 1 |
| GARD:15845 |
Alternating hemiplegia of childhood 2 |
| GARD:207 |
Alveolar echinococcosis |
| GARD:4701 |
Alveolar rhabdomyosarcoma |
| GARD:5654 |
Alveolar soft tissue sarcoma |
| GARD:18544 |
Alzahrani-kuwahara syndrome |
| GARD:16514 |
Alzheimer disease 10 |
| GARD:16515 |
Alzheimer disease 11 |
| GARD:16516 |
Alzheimer disease 12 |
| GARD:16517 |
Alzheimer disease 13 |
| GARD:16518 |
Alzheimer disease 14 |
| GARD:7190 |
Alzheimer disease 15 |
| GARD:12799 |
Alzheimer disease 2 |
| GARD:16513 |
Alzheimer disease 3 |
| GARD:16511 |
Alzheimer disease 4 |
| GARD:16507 |
Alzheimer disease 5 |
| GARD:16509 |
Alzheimer disease 6 |
| GARD:16510 |
Alzheimer disease 7 |
| GARD:16512 |
Alzheimer disease 8 |
| GARD:16508 |
Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology |
| GARD:9465 |
Alzheimer disease, familial, 1 |
| GARD:637 |
Amaurosis-hypertrichosis syndrome |
| GARD:21179 |
Amelia |
| GARD:21191 |
Amelia of lower limb |
| GARD:21190 |
Amelia of upper limb |
| GARD:647 |
Amelo-onycho-hypohidrotic syndrome |
| GARD:11855 |
Ameloblastic carcinoma |
| GARD:5747 |
Ameloblastoma |
| GARD:3128 |
Amelocerebrohypohidrotic syndrome |
| GARD:5791 |
Amelogenesis imperfecta |
| GARD:9495 |
Amelogenesis imperfecta, hypomaturation type, iia1 |
| GARD:15563 |
Amelogenesis imperfecta, hypomaturation type, iia2 |
| GARD:15630 |
Amelogenesis imperfecta, hypomaturation type, iia3 |
| GARD:15847 |
Amelogenesis imperfecta, hypomaturation type, iia4 |
| GARD:16028 |
Amelogenesis imperfecta, hypomaturation type, iia5 |
| GARD:16211 |
Amelogenesis imperfecta, hypomaturation type, iia6 |
| GARD:9944 |
Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 |
| GARD:15038 |
Amelogenesis imperfecta, type ia |
| GARD:15037 |
Amelogenesis imperfecta, type ib |
| GARD:15136 |
Amelogenesis imperfecta, type ic |
| GARD:9943 |
Amelogenesis imperfecta, type ie |
| GARD:16076 |
Amelogenesis imperfecta, type if |
| GARD:16071 |
Amelogenesis imperfecta, type ih |
| GARD:18258 |
Amelogenesis imperfecta, type iiib |
| GARD:16220 |
Amelogenesis imperfecta, type ij |
| GARD:18795 |
American trypanosomiasis |
| GARD:20552 |
Amino acid or protein metabolism disease with epilepsy |
| GARD:21304 |
Aminoacylase deficiency |
| GARD:2294 |
Aminopterin/methotrexate embryofetopathy |
| GARD:8606 |
Amish lethal microcephaly |
| GARD:8334 |
Amish nemaline myopathy |
| GARD:22448 |
Amniotic fluid embolism |
| GARD:18675 |
Amoebiasis due to Entamoeba histolytica |
| GARD:12650 |
Amoebiasis due to free-living amoebae |
| GARD:9285 |
Amoebic keratitis |
| GARD:18676 |
Amyloidosis |
| GARD:17466 |
Amyloidosis cutis dyschromia |
| GARD:18637 |
Amyloidosis, primary localized cutaneous, 1 |
| GARD:18638 |
Amyloidosis, primary localized cutaneous, 2 |
| GARD:9907 |
Amyopathic dermatomyositis |
| GARD:5786 |
Amyotrophic lateral sclerosis |
| GARD:15540 |
Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia |
| GARD:10496 |
Amyotrophic lateral sclerosis 11 |
| GARD:15663 |
Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia |
| GARD:15269 |
Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia |
| GARD:15794 |
Amyotrophic lateral sclerosis 16, juvenile |
| GARD:15841 |
Amyotrophic lateral sclerosis 18 |
| GARD:15980 |
Amyotrophic lateral sclerosis 19 |
| GARD:15137 |
Amyotrophic lateral sclerosis 2, juvenile |
| GARD:15964 |
Amyotrophic lateral sclerosis 20 |
| GARD:18619 |
Amyotrophic lateral sclerosis 21 |
| GARD:16068 |
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia |
| GARD:16262 |
Amyotrophic lateral sclerosis 23 |
| GARD:16425 |
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia |
| GARD:10501 |
Amyotrophic lateral sclerosis 3 |
| GARD:15343 |
Amyotrophic lateral sclerosis 5, juvenile |
| GARD:9874 |
Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia |
| GARD:10500 |
Amyotrophic lateral sclerosis 7 |
| GARD:10499 |
Amyotrophic lateral sclerosis 8 |
| GARD:10498 |
Amyotrophic lateral sclerosis 9 |
| GARD:10502 |
Amyotrophic lateral sclerosis type 4 |
| GARD:15138 |
Amyotrophic lateral sclerosis with polyglucosan bodies |
| GARD:16265 |
Amyotrophic lateral sclerosis, susceptibility to, 24 |
| GARD:3955 |
Amyotrophy, hereditary neuralgic |
| GARD:20568 |
Anal fistula |
| GARD:5860 |
Anaplastic astrocytoma |
| GARD:10634 |
Anaplastic ependymoma |
| GARD:10639 |
Anaplastic ganglioglioma |
| GARD:3112 |
Anaplastic large cell lymphoma |
| GARD:10637 |
Anaplastic oligoastrocytoma |
| GARD:9472 |
Anaplastic oligodendroglioma |
| GARD:664 |
Anaplastic thyroid carcinoma |
| GARD:20717 |
Anaplastic/large cell medulloblastoma |
| GARD:9657 |
Anauxetic dysplasia |
| GARD:9453 |
Andersen-Tawil syndrome |
| GARD:5803 |
Androgen insensitivity syndrome |
| GARD:15994 |
Anemia, congenital dyserythropoietic, type ib |
| GARD:18381 |
Anemia, sideroblastic, 2, pyridoxine-refractory |
| GARD:18380 |
Anemia, sideroblastic, 4 |
| GARD:670 |
Aneurysm of sinus of Valsalva |
| GARD:18320 |
Aneurysm, intracranial berry, 1 |
| GARD:18328 |
Aneurysm, intracranial berry, 10 |
| GARD:18329 |
Aneurysm, intracranial berry, 11 |
| GARD:18330 |
Aneurysm, intracranial berry, 12 |
| GARD:10033 |
Aneurysm, intracranial berry, 2 |
| GARD:18322 |
Aneurysm, intracranial berry, 3 |
| GARD:18323 |
Aneurysm, intracranial berry, 4 |
| GARD:18321 |
Aneurysm, intracranial berry, 5 |
| GARD:18324 |
Aneurysm, intracranial berry, 6 |
| GARD:18325 |
Aneurysm, intracranial berry, 7 |
| GARD:18326 |
Aneurysm, intracranial berry, 8 |
| GARD:18327 |
Aneurysm, intracranial berry, 9 |
| GARD:10997 |
Aneurysm-osteoarthritis syndrome |
| GARD:21982 |
Aneurysmal bone cyst |
| GARD:671 |
Angel-shaped phalango-epiphyseal dysplasia |
| GARD:5810 |
Angelman syndrome |
| GARD:21732 |
Angelman syndrome due to a point mutation |
| GARD:21733 |
Angelman syndrome due to imprinting defect in 15q11-q13 |
| GARD:19577 |
Angelman syndrome due to maternal 15q11q13 deletion |
| GARD:19578 |
Angelman syndrome due to paternal uniparental disomy of chromosome 15 |
| GARD:20714 |
Angiocentric glioma |
| GARD:18259 |
Angioedema induced by ace inhibitors, susceptibility to |
| GARD:11973 |
Angioimmunoblastic T-cell lymphoma |
| GARD:15021 |
Angioma serpiginosum |
| GARD:10189 |
Angioma serpiginosum, autosomal dominant |
| GARD:10188 |
Angioma serpiginosum, x-linked |
| GARD:22303 |
Angiomatoid fibrous histiocytoma |
| GARD:3122 |
Angioosteohypertrophic syndrome |
| GARD:18927 |
Angioosteohypotrophic syndrome |
| GARD:20900 |
Angiosarcoma |
| GARD:683 |
Angiostrongyliasis |
| GARD:21590 |
Angora hair nevus |
| GARD:16681 |
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome |
| GARD:16200 |
Aniridia 2 |
| GARD:16201 |
Aniridia 3 |
| GARD:685 |
Aniridia-absent patella syndrome |
| GARD:13 |
Aniridia-cerebellar ataxia-intellectual disability syndrome |
| GARD:5530 |
Aniridia-intellectual disability syndrome |
| GARD:689 |
Aniridia-ptosis-intellectual disability-familial obesity syndrome |
| GARD:690 |
Aniridia-renal agenesis-psychomotor retardation syndrome |
| GARD:693 |
Anisakiasis |
| GARD:696 |
Ankyloblepharon filiforme adnatum-cleft palate syndrome |
| GARD:697 |
Ankyloblepharon filiforme adnatum-imperforate anus syndrome |
| GARD:6571 |
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
| GARD:842 |
Ankylosing vertebral hyperostosis with tylosis |
| GARD:9742 |
Ankylostomiasis |
| GARD:12676 |
Annular atrophic lichen planus |
| GARD:17304 |
Annular epidermolytic ichthyosis |
| GARD:12674 |
Annular lichen planus |
| GARD:705 |
Annular pancreas |
| GARD:12536 |
Anoctamin-5-related limb-girdle muscular dystrophy R12 |
| GARD:5818 |
Anodontia |
| GARD:22226 |
Anomalous aortic origin of coronary artery |
| GARD:22224 |
Anomalous aortic origin of the left coronary artery |
| GARD:22225 |
Anomalous aortic origin of the right coronary artery |
| GARD:22227 |
Anomalous origin of coronary artery from the pulmonary artery |
| GARD:20200 |
Anomaly of puberty or/and menstrual cycle |
| GARD:20341 |
Anomaly of puberty or/and menstrual cycle of genetic origin |
| GARD:22230 |
Anomaly of the coronary ostia |
| GARD:19784 |
Anomaly of the mitral subvalvular apparatus |
| GARD:19265 |
Anomaly of the tricuspid subvalvular apparatus |
| GARD:16837 |
Anonychia congenita totalis |
| GARD:16682 |
Anonychia with flexural pigmentation |
| GARD:5123 |
Anonychia-microcephaly syndrome |
| GARD:710 |
Anonychia-onychodystrophy syndrome |
| GARD:719 |
Anophthalmia plus syndrome |
| GARD:717 |
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome |
| GARD:1443 |
Anophthalmia/microphthalmia-esophageal atresia syndrome |
| GARD:19351 |
Anorectal malformation |
| GARD:16835 |
Anotia |
| GARD:4570 |
Antecubital pterygium syndrome |
| GARD:20143 |
Antenatal multiminicore disease with arthrogryposis multiplex congenita |
| GARD:18843 |
Anterior cutaneous nerve entrapment syndrome |
| GARD:17997 |
Anterior maxillary protrusion-strabismus-intellectual disability syndrome |
| GARD:22084 |
Anterior segment developmental abnormality with extraocular manifestations |
| GARD:10025 |
Anterior segment developmental anomaly |
| GARD:22167 |
Anterior segment developmental anomaly of genetic origin |
| GARD:16484 |
Anterior segment developmental anomaly without extraocular manifestations |
| GARD:2978 |
Anterior segment dysgenesis 3 |
| GARD:3026 |
Anterior segment dysgenesis 4 |
| GARD:21805 |
Anterior urethral valve |
| GARD:10941 |
Anterior uveitis |
| GARD:730 |
Anti-HLA hyperimmunization |
| GARD:2551 |
Anti-glomerular basement membrane disease |
| GARD:13011 |
Anti-neutrophil cytoplasmic antibody-associated vasculitis |
| GARD:21892 |
Anti-p200 pemphigoid |
| GARD:5824 |
Antiphospholipid syndrome |
| GARD:735 |
Antisynthetase syndrome |
| GARD:5826 |
Antley-Bixler syndrome |
| GARD:16665 |
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis |
| GARD:22389 |
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis |
| GARD:5828 |
Aorta coarctation |
| GARD:16491 |
Aortic aneurysm, familial abdominal, 1 |
| GARD:16492 |
Aortic aneurysm, familial abdominal, 2 |
| GARD:16493 |
Aortic aneurysm, familial abdominal, 3 |
| GARD:16494 |
Aortic aneurysm, familial abdominal, 4 |
| GARD:15408 |
Aortic aneurysm, familial thoracic 1 |
| GARD:16207 |
Aortic aneurysm, familial thoracic 10 |
| GARD:15409 |
Aortic aneurysm, familial thoracic 2 |
| GARD:9876 |
Aortic aneurysm, familial thoracic 4 |
| GARD:15527 |
Aortic aneurysm, familial thoracic 6 |
| GARD:15706 |
Aortic aneurysm, familial thoracic 7 |
| GARD:15966 |
Aortic aneurysm, familial thoracic 8 |
| GARD:16067 |
Aortic aneurysm, familial thoracic 9 |
| GARD:739 |
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome |
| GARD:741 |
Aortic arch defects |
| GARD:740 |
Aortic arch interruption |
| GARD:19552 |
Aortic malformation |
| GARD:18470 |
Aortic valve disease 1 |
| GARD:18471 |
Aortic valve disease 2 |
| GARD:19633 |
Aorto-left ventricular tunnel |
| GARD:19632 |
Aorto-right ventricular tunnel |
| GARD:18798 |
Aorto-ventricular tunnel |
| GARD:5833 |
Apert syndrome |
| GARD:3051 |
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome |
| GARD:748 |
Aphalangy-syndactyly-microcephaly syndrome |
| GARD:21443 |
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome |
| GARD:5835 |
Aplasia cutis congenita |
| GARD:753 |
Aplasia cutis congenita-intestinal lymphangiectasia syndrome |
| GARD:756 |
Aplasia cutis-myopia syndrome |
| GARD:16759 |
Aplasia of lacrimal and salivary glands |
| GARD:20234 |
Aplastic anemia |
| GARD:18026 |
Aplastic anemia-intellectual disability-dwarfism syndrome |
| GARD:19722 |
Apnea of prematurity |
| GARD:21197 |
Apodia |
| GARD:2872 |
Apolipoprotein A-I deficiency |
| GARD:18076 |
Apolipoprotein c-iii deficiency |
| GARD:433 |
Apparent mineralocorticoid excess |
| GARD:22281 |
Aprosencephaly |
| GARD:4518 |
Aprosencephaly cerebellar dysgenesis |
| GARD:22279 |
Aprosencephaly/atelencephaly spectrum |
| GARD:12991 |
Aquagenic palmoplantar keratoderma |
| GARD:381 |
Arachnodactyly-abnormal ossification-intellectual disability syndrome |
| GARD:764 |
Arachnodactyly-intellectual disability-dysmorphism syndrome |
| GARD:17 |
Arachnoid cyst |
| GARD:5839 |
Arachnoiditis |
| GARD:18690 |
Arbovirus fever |
| GARD:19778 |
Aregenerative anemia |
| GARD:21411 |
Argentine hemorrhagic fever |
| GARD:5840 |
Argininemia |
| GARD:5843 |
Argininosuccinic aciduria |
| GARD:18856 |
Argyria |
| GARD:9233 |
Arnold-Chiari malformation type I |
| GARD:9232 |
Arnold-Chiari malformation type II |
| GARD:365 |
Aromatase deficiency |
| GARD:12494 |
Aromatase excess syndrome |
| GARD:770 |
Aromatic L-amino acid decarboxylase deficiency |
| GARD:8755 |
Arrhinia-choanal atresia-microphthalmia syndrome |
| GARD:5847 |
Arrhythmogenic right ventricular cardiomyopathy |
| GARD:16577 |
Arterial dissection-lentiginosis syndrome |
| GARD:19270 |
Arterial duct anomaly |
| GARD:21535 |
Arterial thoracic outlet syndrome |
| GARD:774 |
Arterial tortuosity syndrome |
| GARD:2084 |
Arthrochalasia Ehlers-Danlos syndrome |
| GARD:777 |
Arthrogryposis multiplex congenita |
| GARD:18566 |
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
| GARD:792 |
Arthrogryposis multiplex congenita-whistling face syndrome |
| GARD:19870 |
Arthrogryposis syndrome |
| GARD:15790 |
Arthrogryposis, distal, type 1b |
| GARD:16421 |
Arthrogryposis, distal, type 1c |
| GARD:9909 |
Arthrogryposis, distal, type 2b1 |
| GARD:16351 |
Arthrogryposis, distal, type 2b2 |
| GARD:15139 |
Arthrogryposis, renal dysfunction, and cholestasis 1 |
| GARD:15658 |
Arthrogryposis, renal dysfunction, and cholestasis 2 |
| GARD:16658 |
Arthrogryposis-anterior horn cell disease syndrome |
| GARD:5029 |
Arthrogryposis-ectodermal dysplasia syndrome |
| GARD:3053 |
Arthrogryposis-hyperkeratosis syndrome, lethal form |
| GARD:784 |
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome |
| GARD:4047 |
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome |
| GARD:794 |
Arthrogryposis-renal dysfunction-cholestasis syndrome |
| GARD:16672 |
Arthrogryposis-severe scoliosis syndrome |
| GARD:5852 |
Asbestos intoxication |
| GARD:19557 |
Ascending aorta anomaly |
| GARD:201 |
Ascher syndrome |
| GARD:5853 |
Asherman syndrome |
| GARD:5854 |
Aspartylglucosaminuria |
| GARD:5856 |
Aspergillosis |
| GARD:15752 |
Aspergillosis, susceptibility to |
| GARD:19050 |
Astley-Kendall dysplasia |
| GARD:10635 |
Astroblastoma |
| GARD:12928 |
Astrocytoma |
| GARD:20759 |
Ataxia neuropathy spectrum |
| GARD:19486 |
Ataxia with dementia |
| GARD:8595 |
Ataxia with vitamin E deficiency |
| GARD:4644 |
Ataxia-deafness-intellectual disability syndrome |
| GARD:944 |
Ataxia-hypogonadism-choroidal dystrophy syndrome |
| GARD:17597 |
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome |
| GARD:13112 |
Ataxia-oculomotor apraxia 3 |
| GARD:9283 |
Ataxia-oculomotor apraxia type 1 |
| GARD:13111 |
Ataxia-oculomotor apraxia type 4 |
| GARD:3865 |
Ataxia-pancytopenia syndrome |
| GARD:2287 |
Ataxia-photosensitivity-short stature syndrome |
| GARD:16559 |
Ataxia-tapetoretinal degeneration syndrome |
| GARD:5862 |
Ataxia-telangiectasia |
| GARD:21597 |
Ataxia-telangiectasia variant |
| GARD:15141 |
Ataxia-telangiectasia with generalized skin pigmentation and early death |
| GARD:17209 |
Ataxia-telangiectasia-like disorder |
| GARD:22280 |
Atelencephaly |
| GARD:9287 |
Atelosteogenesis type I |
| GARD:8329 |
Atelosteogenesis type II |
| GARD:10608 |
Atelosteogenesis type III |
| GARD:8333 |
Athabaskan brainstem dysgenesis syndrome |
| GARD:2279 |
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome |
| GARD:16842 |
Athyreosis |
| GARD:3537 |
Atkin-Flaitz syndrome |
| GARD:20053 |
Atopic keratoconjunctivitis |
| GARD:18274 |
Atresia of external auditory canal and conductive deafness |
| GARD:140 |
Atresia of small intestine |
| GARD:18678 |
Atresia of urethra |
| GARD:19283 |
Atrial appendage anomaly |
| GARD:15745 |
Atrial fibrillation, familial, 10 |
| GARD:15747 |
Atrial fibrillation, familial, 11 |
| GARD:15748 |
Atrial fibrillation, familial, 12 |
| GARD:15954 |
Atrial fibrillation, familial, 13 |
| GARD:15955 |
Atrial fibrillation, familial, 14 |
| GARD:16010 |
Atrial fibrillation, familial, 15 |
| GARD:16219 |
Atrial fibrillation, familial, 18 |
| GARD:15446 |
Atrial fibrillation, familial, 2 |
| GARD:15414 |
Atrial fibrillation, familial, 3 |
| GARD:15516 |
Atrial fibrillation, familial, 4 |
| GARD:15517 |
Atrial fibrillation, familial, 5 |
| GARD:15544 |
Atrial fibrillation, familial, 6 |
| GARD:15545 |
Atrial fibrillation, familial, 7 |
| GARD:15609 |
Atrial fibrillation, familial, 8 |
| GARD:15737 |
Atrial fibrillation, familial, 9 |
| GARD:19651 |
Atrial septal aneurysm |
| GARD:15755 |
Atrial septal defect 3 |
| GARD:15512 |
Atrial septal defect 4 |
| GARD:10697 |
Atrial septal defect, coronary sinus type |
| GARD:10695 |
Atrial septal defect, ostium primum type |
| GARD:5865 |
Atrial septal defect, ostium secundum type |
| GARD:10696 |
Atrial septal defect, sinus venosus type |
| GARD:16566 |
Atrial septal defect-atrioventricular conduction defects syndrome |
| GARD:16564 |
Atrial standstill |
| GARD:18611 |
Atrial standstill 1 |
| GARD:18612 |
Atrial standstill 2 |
| GARD:16762 |
Atrichia with papular lesions |
| GARD:2742 |
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome |
| GARD:802 |
Atrioventricular septal defect |
| GARD:19554 |
Atrioventricular valve anomaly |
| GARD:12675 |
Atrophic lichen planus |
| GARD:9744 |
Atrophoderma vermiculata |
| GARD:21527 |
Attenuated Chédiak-Higashi syndrome |
| GARD:8532 |
Attenuated familial adenomatous polyposis |
| GARD:22238 |
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome |
| GARD:12503 |
Atypical Gaucher disease due to saposin C deficiency |
| GARD:21374 |
Atypical Meigs syndrome |
| GARD:20782 |
Atypical Norrie disease due to Xp11.3 microdeletion |
| GARD:4694 |
Atypical Rett syndrome |
| GARD:22382 |
Atypical Timothy syndrome |
| GARD:11910 |
Atypical Werner syndrome |
| GARD:20336 |
Atypical autism |
| GARD:19583 |
Atypical chronic myeloid leukemia |
| GARD:18723 |
Atypical coarctation of aorta |
| GARD:17433 |
Atypical dentin dysplasia due to SMOC2 deficiency |
| GARD:17334 |
Atypical glycine encephalopathy |
| GARD:8702 |
Atypical hemolytic uremic syndrome |
| GARD:16823 |
Atypical hemolytic uremic syndrome with anti-factor H antibodies |
| GARD:17986 |
Atypical hemolytic uremic syndrome with complement gene abnormality |
| GARD:17175 |
Atypical hypotonia-cystinuria syndrome |
| GARD:17621 |
Atypical juvenile parkinsonism |
| GARD:19066 |
Atypical lichen myxedematosus |
| GARD:17115 |
Atypical pantothenate kinase-associated neurodegeneration |
| GARD:20723 |
Atypical papilloma of choroid plexus |
| GARD:4507 |
Atypical progressive supranuclear palsy syndrome |
| GARD:16926 |
Atypical teratoid rhabdoid tumor |
| GARD:20077 |
Audiogenic seizures |
| GARD:18127 |
Auditory neuropathy, autosomal dominant 1 |
| GARD:17983 |
Auditory neuropathy-optic atrophy syndrome |
| GARD:18275 |
Aural atresia, congenital |
| GARD:18933 |
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome |
| GARD:9798 |
Auriculocondylar syndrome |
| GARD:15346 |
Auriculocondylar syndrome 1 |
| GARD:15831 |
Auriculocondylar syndrome 2 |
| GARD:16003 |
Auriculocondylar syndrome 3 |
| GARD:8663 |
Auriculoosteodysplasia |
| GARD:17520 |
Autism spectrum disorder due to AUTS2 deficiency |
| GARD:17604 |
Autism spectrum disorder-epilepsy-arthrogryposis syndrome |
| GARD:17389 |
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency |
| GARD:10303 |
Autism-facial port-wine stain syndrome |
| GARD:6481 |
Autoerythrocyte sensitization syndrome |
| GARD:19028 |
Autoimmune bullous skin disease |
| GARD:21400 |
Autoimmune disease with skin involvement |
| GARD:11979 |
Autoimmune encephalitis |
| GARD:21749 |
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea |
| GARD:12314 |
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome |
| GARD:5870 |
Autoimmune hemolytic anemia |
| GARD:20590 |
Autoimmune hemolytic anemia, cold type |
| GARD:7876 |
Autoimmune hemolytic anemia, warm type |
| GARD:17766 |
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome |
| GARD:5871 |
Autoimmune hepatitis |
| GARD:22251 |
Autoimmune hepatitis type 1 |
| GARD:22252 |
Autoimmune hepatitis type 2 |
| GARD:18824 |
Autoimmune hypoparathyroidism |
| GARD:17762 |
Autoimmune interstitial lung disease-arthritis syndrome |
| GARD:22492 |
Autoimmune limbic encephalitis |
| GARD:8686 |
Autoimmune lymphoproliferative syndrome |
| GARD:12316 |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency |
| GARD:9796 |
Autoimmune lymphoproliferative syndrome with recurrent viral infections |
| GARD:15361 |
Autoimmune lymphoproliferative syndrome, type iia |
| GARD:15987 |
Autoimmune lymphoproliferative syndrome, type iii |
| GARD:19575 |
Autoimmune neurological channelopathy |
| GARD:10911 |
Autoimmune pancreatitis |
| GARD:21076 |
Autoimmune pancreatitis type 1 |
| GARD:21077 |
Autoimmune pancreatitis type 2 |
| GARD:21116 |
Autoimmune polyendocrinopathy |
| GARD:8466 |
Autoimmune polyendocrinopathy type 1 |
| GARD:7611 |
Autoimmune polyendocrinopathy type 2 |
| GARD:10980 |
Autoimmune polyendocrinopathy type 3 |
| GARD:20567 |
Autoimmune polyendocrinopathy type 4 |
| GARD:7499 |
Autoimmune pulmonary alveolar proteinosis |
| GARD:18906 |
Autoimmune thrombocytopenia |
| GARD:22037 |
Autoimmune/inflammatory optic neuropathy |
| GARD:17486 |
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation |
| GARD:19234 |
Autoinflammatory syndrome |
| GARD:21427 |
Autoinflammatory syndrome of childhood |
| GARD:21161 |
Autoinflammatory syndrome with immune deficiency |
| GARD:17494 |
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis |
| GARD:21162 |
Autoinflammatory syndrome with skin involvement |
| GARD:9640 |
Autosomal agammaglobulinemia |
| GARD:19417 |
Autosomal anomaly |
| GARD:624 |
Autosomal dominant Alport syndrome |
| GARD:12431 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 |
| GARD:21999 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation |
| GARD:21447 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation |
| GARD:21815 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation |
| GARD:12447 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons |
| GARD:1248 |
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 |
| GARD:16925 |
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 |
| GARD:9192 |
Autosomal dominant Charcot-Marie-Tooth disease type 2B |
| GARD:1250 |
Autosomal dominant Charcot-Marie-Tooth disease type 2C |
| GARD:1251 |
Autosomal dominant Charcot-Marie-Tooth disease type 2D |
| GARD:17959 |
Autosomal dominant Charcot-Marie-Tooth disease type 2DD |
| GARD:9193 |
Autosomal dominant Charcot-Marie-Tooth disease type 2E |
| GARD:9194 |
Autosomal dominant Charcot-Marie-Tooth disease type 2F |
| GARD:9195 |
Autosomal dominant Charcot-Marie-Tooth disease type 2G |
| GARD:9197 |
Autosomal dominant Charcot-Marie-Tooth disease type 2I |
| GARD:9198 |
Autosomal dominant Charcot-Marie-Tooth disease type 2J |
| GARD:9199 |
Autosomal dominant Charcot-Marie-Tooth disease type 2K |
| GARD:12432 |
Autosomal dominant Charcot-Marie-Tooth disease type 2L |
| GARD:17147 |
Autosomal dominant Charcot-Marie-Tooth disease type 2M |
| GARD:12429 |
Autosomal dominant Charcot-Marie-Tooth disease type 2N |
| GARD:12434 |
Autosomal dominant Charcot-Marie-Tooth disease type 2O |
| GARD:12446 |
Autosomal dominant Charcot-Marie-Tooth disease type 2Q |
| GARD:17638 |
Autosomal dominant Charcot-Marie-Tooth disease type 2U |
| GARD:17777 |
Autosomal dominant Charcot-Marie-Tooth disease type 2V |
| GARD:17891 |
Autosomal dominant Charcot-Marie-Tooth disease type 2W |
| GARD:17714 |
Autosomal dominant Charcot-Marie-Tooth disease type 2Y |
| GARD:17829 |
Autosomal dominant Charcot-Marie-Tooth disease type 2Z |
| GARD:16865 |
Autosomal dominant Emery-Dreifuss muscular dystrophy |
| GARD:83 |
Autosomal dominant Kenny-Caffey syndrome |
| GARD:16620 |
Autosomal dominant Robinow syndrome |
| GARD:17102 |
Autosomal dominant adult-onset proximal spinal muscular atrophy |
| GARD:17420 |
Autosomal dominant aplasia and myelodysplasia |
| GARD:10429 |
Autosomal dominant brachyolmia |
| GARD:12719 |
Autosomal dominant centronuclear myopathy |
| GARD:4346 |
Autosomal dominant cerebellar ataxia |
| GARD:19252 |
Autosomal dominant cerebellar ataxia type I |
| GARD:20405 |
Autosomal dominant cerebellar ataxia type II |
| GARD:19253 |
Autosomal dominant cerebellar ataxia type III |
| GARD:19254 |
Autosomal dominant cerebellar ataxia type IV |
| GARD:12372 |
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome |
| GARD:17559 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy |
| GARD:18722 |
Autosomal dominant coarctation of aorta |
| GARD:19770 |
Autosomal dominant complex spastic paraplegia |
| GARD:1474 |
Autosomal dominant congenital benign spinal muscular atrophy |
| GARD:1639 |
Autosomal dominant cutis laxa |
| GARD:4732 |
Autosomal dominant deafness-onychodystrophy syndrome |
| GARD:21292 |
Autosomal dominant diffuse mutilating palmoplantar keratoderma |
| GARD:19449 |
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature |
| GARD:21301 |
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature |
| GARD:19448 |
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature |
| GARD:21949 |
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome |
| GARD:19926 |
Autosomal dominant distal hereditary motor neuropathy |
| GARD:20361 |
Autosomal dominant distal myopathy |
| GARD:4668 |
Autosomal dominant distal renal tubular acidosis |
| GARD:9817 |
Autosomal dominant dopa-responsive dystonia |
| GARD:1039 |
Autosomal dominant epidermolytic ichthyosis |
| GARD:2257 |
Autosomal dominant epilepsy with auditory features |
| GARD:10667 |
Autosomal dominant focal dystonia, DYT25 type |
| GARD:17669 |
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering |
| GARD:2139 |
Autosomal dominant generalized dystrophic epidermolysis bullosa |
| GARD:2147 |
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form |
| GARD:2141 |
Autosomal dominant generalized epidermolysis bullosa simplex, severe form |
| GARD:19924 |
Autosomal dominant hereditary axonal motor and sensory neuropathy |
| GARD:19923 |
Autosomal dominant hereditary demyelinating motor and sensory neuropathy |
| GARD:19928 |
Autosomal dominant hereditary sensory and autonomic neuropathy |
| GARD:6800 |
Autosomal dominant hyper-IgE syndrome |
| GARD:17284 |
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency |
| GARD:17283 |
Autosomal dominant hyperinsulinism due to SUR1 deficiency |
| GARD:2877 |
Autosomal dominant hypocalcemia |
| GARD:2048 |
Autosomal dominant hypohidrotic ectodermal dysplasia |
| GARD:16781 |
Autosomal dominant hypophosphatemic rickets |
| GARD:17797 |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| GARD:12436 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease |
| GARD:12437 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A |
| GARD:12438 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B |
| GARD:12439 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C |
| GARD:9207 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D |
| GARD:12011 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E |
| GARD:9206 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F |
| GARD:21446 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain |
| GARD:19447 |
Autosomal dominant isolated diffuse palmoplantar keratoderma |
| GARD:3089 |
Autosomal dominant keratitis |
| GARD:19824 |
Autosomal dominant limb-girdle muscular dystrophy |
| GARD:10229 |
Autosomal dominant limb-girdle muscular dystrophy type 1A |
| GARD:12532 |
Autosomal dominant limb-girdle muscular dystrophy type 1H |
| GARD:16965 |
Autosomal dominant macrothrombocytopenia |
| GARD:21424 |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency |
| GARD:17461 |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency |
| GARD:21425 |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency |
| GARD:17794 |
Autosomal dominant mitochondrial myopathy with exercise intolerance |
| GARD:13058 |
Autosomal dominant multiple pterygium syndrome |
| GARD:16917 |
Autosomal dominant myoglobinuria |
| GARD:21838 |
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome |
| GARD:17497 |
Autosomal dominant neovascular inflammatory vitreoretinopathy |
| GARD:11918 |
Autosomal dominant nocturnal frontal lobe epilepsy |
| GARD:12107 |
Autosomal dominant non-syndromic intellectual disability |
| GARD:16791 |
Autosomal dominant non-syndromic sensorineural deafness type DFNA |
| GARD:3643 |
Autosomal dominant omodysplasia |
| GARD:11972 |
Autosomal dominant optic atrophy |
| GARD:10203 |
Autosomal dominant optic atrophy and cataract |
| GARD:20686 |
Autosomal dominant optic atrophy and peripheral neuropathy |
| GARD:5243 |
Autosomal dominant optic atrophy plus syndrome |
| GARD:9890 |
Autosomal dominant optic atrophy, classic form |
| GARD:4151 |
Autosomal dominant osteopetrosis type 1 |
| GARD:5021 |
Autosomal dominant otospondylomegaepiphyseal dysplasia |
| GARD:604 |
Autosomal dominant palmoplantar keratoderma and congenital alopecia |
| GARD:10413 |
Autosomal dominant polycystic kidney disease |
| GARD:9481 |
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis |
| GARD:3242 |
Autosomal dominant popliteal pterygium syndrome |
| GARD:21953 |
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome |
| GARD:3350 |
Autosomal dominant primary hypomagnesemia with hypocalciuria |
| GARD:3605 |
Autosomal dominant primary microcephaly |
| GARD:10319 |
Autosomal dominant prognathism |
| GARD:16486 |
Autosomal dominant progressive external ophthalmoplegia |
| GARD:16772 |
Autosomal dominant progressive nephropathy with hypertension |
| GARD:21394 |
Autosomal dominant proximal renal tubular acidosis |
| GARD:20454 |
Autosomal dominant proximal spinal muscular atrophy |
| GARD:19771 |
Autosomal dominant pure spastic paraplegia |
| GARD:17104 |
Autosomal dominant rhegmatogenous retinal detachment |
| GARD:17189 |
Autosomal dominant secondary polycythemia |
| GARD:9558 |
Autosomal dominant severe congenital neutropenia |
| GARD:16962 |
Autosomal dominant slowed nerve conduction velocity |
| GARD:21402 |
Autosomal dominant spastic ataxia |
| GARD:17206 |
Autosomal dominant spastic ataxia type 1 |
| GARD:9590 |
Autosomal dominant spastic paraplegia type 10 |
| GARD:9586 |
Autosomal dominant spastic paraplegia type 12 |
| GARD:9616 |
Autosomal dominant spastic paraplegia type 13 |
| GARD:4219 |
Autosomal dominant spastic paraplegia type 17 |
| GARD:9588 |
Autosomal dominant spastic paraplegia type 19 |
| GARD:9729 |
Autosomal dominant spastic paraplegia type 29 |
| GARD:5041 |
Autosomal dominant spastic paraplegia type 3 |
| GARD:10817 |
Autosomal dominant spastic paraplegia type 31 |
| GARD:17472 |
Autosomal dominant spastic paraplegia type 36 |
| GARD:17064 |
Autosomal dominant spastic paraplegia type 37 |
| GARD:17065 |
Autosomal dominant spastic paraplegia type 38 |
| GARD:4925 |
Autosomal dominant spastic paraplegia type 4 |
| GARD:17471 |
Autosomal dominant spastic paraplegia type 41 |
| GARD:17073 |
Autosomal dominant spastic paraplegia type 42 |
| GARD:4928 |
Autosomal dominant spastic paraplegia type 6 |
| GARD:17763 |
Autosomal dominant spastic paraplegia type 73 |
| GARD:9591 |
Autosomal dominant spastic paraplegia type 8 |
| GARD:9583 |
Autosomal dominant spastic paraplegia type 9A |
| GARD:21866 |
Autosomal dominant spastic paraplegia type 9B |
| GARD:12806 |
Autosomal dominant spondylocostal dysostosis |
| GARD:17146 |
Autosomal dominant striatal neurodegeneration |
| GARD:17835 |
Autosomal dominant thrombocytopenia with platelet secretion defect |
| GARD:10801 |
Autosomal dominant tubulointerstitial kidney disease |
| GARD:5507 |
Autosomal dominant vitreoretinochoroidopathy |
| GARD:4527 |
Autosomal erythropoietic protoporphyria |
| GARD:21110 |
Autosomal ichthyosis syndrome |
| GARD:21113 |
Autosomal ichthyosis syndrome with fatal disease course |
| GARD:21114 |
Autosomal ichthyosis syndrome with other associated signs |
| GARD:21111 |
Autosomal ichthyosis syndrome with prominent hair abnormalities |
| GARD:21112 |
Autosomal ichthyosis syndrome with prominent neurologic signs |
| GARD:19826 |
Autosomal monosomy |
| GARD:625 |
Autosomal recessive Alport syndrome |
| GARD:17830 |
Autosomal recessive Charcot-Marie-Tooth disease type 2X |
| GARD:12448 |
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness |
| GARD:16866 |
Autosomal recessive Emery-Dreifuss muscular dystrophy |
| GARD:8367 |
Autosomal recessive Kenny-Caffey syndrome |
| GARD:16568 |
Autosomal recessive Robinow syndrome |
| GARD:17203 |
Autosomal recessive Stickler syndrome |
| GARD:16554 |
Autosomal recessive amelia |
| GARD:17954 |
Autosomal recessive anterior segment dysgenesis |
| GARD:20666 |
Autosomal recessive ataxia due to PEX10 deficiency |
| GARD:10294 |
Autosomal recessive ataxia due to ubiquinone deficiency |
| GARD:12234 |
Autosomal recessive ataxia, Beauce type |
| GARD:22143 |
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect |
| GARD:12449 |
Autosomal recessive axonal hereditary motor and sensory neuropathy |
| GARD:12353 |
Autosomal recessive axonal neuropathy with neuromyotonia |
| GARD:10301 |
Autosomal recessive bestrophinopathy |
| GARD:13171 |
Autosomal recessive brachyolmia |
| GARD:12718 |
Autosomal recessive centronuclear myopathy |
| GARD:18718 |
Autosomal recessive cerebellar ataxia |
| GARD:17786 |
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
| GARD:17689 |
Autosomal recessive cerebellar ataxia due to STUB1 deficiency |
| GARD:19414 |
Autosomal recessive cerebellar ataxia due to a DNA repair defect |
| GARD:21525 |
Autosomal recessive cerebellar ataxia with late-onset spasticity |
| GARD:21719 |
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome |
| GARD:17678 |
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency |
| GARD:17677 |
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency |
| GARD:17313 |
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency |
| GARD:4952 |
Autosomal recessive cerebellar ataxia-movement disorder syndrome |
| GARD:17312 |
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome |
| GARD:17556 |
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome |
| GARD:1199 |
Autosomal recessive cerebelloparenchymal disorder type 3 |
| GARD:21560 |
Autosomal recessive cerebral atrophy |
| GARD:16603 |
Autosomal recessive chorioretinopathy-microcephaly syndrome |
| GARD:19772 |
Autosomal recessive complex spastic paraplegia |
| GARD:17946 |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
| GARD:19412 |
Autosomal recessive congenital cerebellar ataxia |
| GARD:17557 |
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency |
| GARD:17481 |
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency |
| GARD:21106 |
Autosomal recessive congenital ichthyosis |
| GARD:8480 |
Autosomal recessive cutis laxa type 1 |
| GARD:19134 |
Autosomal recessive cutis laxa type 2 |
| GARD:17546 |
Autosomal recessive cutis laxa type 2, classic type |
| GARD:1638 |
Autosomal recessive cutis laxa type 2A |
| GARD:1641 |
Autosomal recessive cutis laxa type 2B |
| GARD:19415 |
Autosomal recessive degenerative and progressive cerebellar ataxia |
| GARD:21302 |
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature |
| GARD:21293 |
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature |
| GARD:19451 |
Autosomal recessive disease with focal palmoplantar keratoderma as a major feature |
| GARD:19927 |
Autosomal recessive distal hereditary motor neuropathy |
| GARD:20362 |
Autosomal recessive distal myopathy |
| GARD:4299 |
Autosomal recessive distal osteolysis syndrome |
| GARD:4666 |
Autosomal recessive distal renal tubular acidosis |
| GARD:1902 |
Autosomal recessive dopa-responsive dystonia |
| GARD:22074 |
Autosomal recessive epidermolytic ichthyosis |
| GARD:17996 |
Autosomal recessive extra-oral halitosis |
| GARD:5124 |
Autosomal recessive faciodigitogenital syndrome |
| GARD:21489 |
Autosomal recessive frontotemporal pachygyria |
| GARD:12794 |
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form |
| GARD:6308 |
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form |
| GARD:16778 |
Autosomal recessive generalized epidermolysis bullosa simplex |
| GARD:19925 |
Autosomal recessive hereditary demyelinating motor and sensory neuropathy |
| GARD:19929 |
Autosomal recessive hereditary sensory and autonomic neuropathy |
| GARD:16727 |
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency |
| GARD:16726 |
Autosomal recessive hyperinsulinism due to SUR1 deficiency |
| GARD:2057 |
Autosomal recessive hypohidrotic ectodermal dysplasia |
| GARD:17320 |
Autosomal recessive hypophosphatemic rickets |
| GARD:17374 |
Autosomal recessive infantile hypercalcemia |
| GARD:12452 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease |
| GARD:12453 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A |
| GARD:12454 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B |
| GARD:17587 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C |
| GARD:17723 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D |
| GARD:19450 |
Autosomal recessive isolated diffuse palmoplantar keratoderma |
| GARD:16860 |
Autosomal recessive isolated optic atrophy |
| GARD:17976 |
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy |
| GARD:21378 |
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome |
| GARD:19825 |
Autosomal recessive limb-girdle muscular dystrophy |
| GARD:17101 |
Autosomal recessive lower motor neuron disease with childhood onset |
| GARD:15012 |
Autosomal recessive malignant osteopetrosis |
| GARD:21422 |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency |
| GARD:21423 |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency |
| GARD:17861 |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
| GARD:17459 |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency |
| GARD:17460 |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency |
| GARD:22319 |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency |
| GARD:19413 |
Autosomal recessive metabolic cerebellar ataxia |
| GARD:7111 |
Autosomal recessive multiple pterygium syndrome |
| GARD:17447 |
Autosomal recessive myogenic arthrogryposis multiplex congenita |
| GARD:18650 |
Autosomal recessive nail dysplasia |
| GARD:18643 |
Autosomal recessive non-syndromic intellectual disability |
| GARD:18644 |
Autosomal recessive non-syndromic sensorineural deafness type DFNB |
| GARD:4076 |
Autosomal recessive omodysplasia |
| GARD:17143 |
Autosomal recessive optic atrophy, OPA7 type |
| GARD:1139 |
Autosomal recessive palmoplantar keratoderma and congenital alopecia |
| GARD:8378 |
Autosomal recessive polycystic kidney disease |
| GARD:17732 |
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity |
| GARD:12117 |
Autosomal recessive primary microcephaly |
| GARD:1191 |
Autosomal recessive progressive external ophthalmoplegia |
| GARD:16826 |
Autosomal recessive proximal renal tubular acidosis |
| GARD:19773 |
Autosomal recessive pure spastic paraplegia |
| GARD:20658 |
Autosomal recessive secondary polycythemia not associated with VHL gene |
| GARD:21834 |
Autosomal recessive severe congenital neutropenia |
| GARD:17698 |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| GARD:21747 |
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency |
| GARD:17511 |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| GARD:17702 |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency |
| GARD:17240 |
Autosomal recessive sideroblastic anemia |
| GARD:21403 |
Autosomal recessive spastic ataxia |
| GARD:4910 |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay |
| GARD:17425 |
Autosomal recessive spastic ataxia with leukoencephalopathy |
| GARD:10992 |
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome |
| GARD:4919 |
Autosomal recessive spastic paraplegia type 11 |
| GARD:9589 |
Autosomal recessive spastic paraplegia type 14 |
| GARD:9581 |
Autosomal recessive spastic paraplegia type 15 |
| GARD:4922 |
Autosomal recessive spastic paraplegia type 18 |
| GARD:5372 |
Autosomal recessive spastic paraplegia type 20 |
| GARD:16939 |
Autosomal recessive spastic paraplegia type 21 |
| GARD:336 |
Autosomal recessive spastic paraplegia type 23 |
| GARD:9296 |
Autosomal recessive spastic paraplegia type 24 |
| GARD:9582 |
Autosomal recessive spastic paraplegia type 25 |
| GARD:9587 |
Autosomal recessive spastic paraplegia type 26 |
| GARD:16940 |
Autosomal recessive spastic paraplegia type 27 |
| GARD:16941 |
Autosomal recessive spastic paraplegia type 28 |
| GARD:12749 |
Autosomal recessive spastic paraplegia type 32 |
| GARD:10538 |
Autosomal recessive spastic paraplegia type 35 |
| GARD:4924 |
Autosomal recessive spastic paraplegia type 39 |
| GARD:17473 |
Autosomal recessive spastic paraplegia type 43 |
| GARD:17478 |
Autosomal recessive spastic paraplegia type 44 |
| GARD:17477 |
Autosomal recessive spastic paraplegia type 45 |
| GARD:17476 |
Autosomal recessive spastic paraplegia type 46 |
| GARD:17378 |
Autosomal recessive spastic paraplegia type 48 |
| GARD:17445 |
Autosomal recessive spastic paraplegia type 53 |
| GARD:17475 |
Autosomal recessive spastic paraplegia type 54 |
| GARD:17474 |
Autosomal recessive spastic paraplegia type 55 |
| GARD:17480 |
Autosomal recessive spastic paraplegia type 56 |
| GARD:17712 |
Autosomal recessive spastic paraplegia type 57 |
| GARD:21695 |
Autosomal recessive spastic paraplegia type 59 |
| GARD:4926 |
Autosomal recessive spastic paraplegia type 5A |
| GARD:21696 |
Autosomal recessive spastic paraplegia type 60 |
| GARD:17656 |
Autosomal recessive spastic paraplegia type 61 |
| GARD:17657 |
Autosomal recessive spastic paraplegia type 62 |
| GARD:17658 |
Autosomal recessive spastic paraplegia type 63 |
| GARD:17659 |
Autosomal recessive spastic paraplegia type 64 |
| GARD:21697 |
Autosomal recessive spastic paraplegia type 66 |
| GARD:21698 |
Autosomal recessive spastic paraplegia type 67 |
| GARD:21699 |
Autosomal recessive spastic paraplegia type 69 |
| GARD:21700 |
Autosomal recessive spastic paraplegia type 70 |
| GARD:21701 |
Autosomal recessive spastic paraplegia type 71 |
| GARD:17842 |
Autosomal recessive spastic paraplegia type 74 |
| GARD:17813 |
Autosomal recessive spastic paraplegia type 75 |
| GARD:17892 |
Autosomal recessive spastic paraplegia type 76 |
| GARD:17827 |
Autosomal recessive spastic paraplegia type 77 |
| GARD:17952 |
Autosomal recessive spastic paraplegia type 78 |
| GARD:17770 |
Autosomal recessive spastic paraplegia type 9B |
| GARD:9971 |
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome |
| GARD:6798 |
Autosomal recessive spondylocostal dysostosis |
| GARD:17667 |
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type |
| GARD:19416 |
Autosomal recessive syndromic cerebellar ataxia |
| GARD:21080 |
Autosomal semi-dominant severe lipodystrophic laminopathy |
| GARD:16942 |
Autosomal spastic paraplegia type 30 |
| GARD:17644 |
Autosomal spastic paraplegia type 58 |
| GARD:17660 |
Autosomal spastic paraplegia type 72 |
| GARD:17368 |
Autosomal systemic lupus erythematosus |
| GARD:17041 |
Autosomal thrombocytopenia with normal platelets |
| GARD:19418 |
Autosomal trisomy |
| GARD:19423 |
Autosomal uniparental disomy |
| GARD:21658 |
Avascular necrosis |
| GARD:21668 |
Avascular necrosis of genetic origin |
| GARD:21897 |
Avian influenza |
| GARD:16485 |
Axenfeld anomaly |
| GARD:5701 |
Axenfeld-Rieger syndrome |
| GARD:10281 |
Axenfeld-rieger syndrome, type 1 |
| GARD:10517 |
Axenfeld-rieger syndrome, type 2 |
| GARD:9626 |
Axenfeld-rieger syndrome, type 3 |
| GARD:213 |
Axial mesodermal dysplasia spectrum |
| GARD:8720 |
Axial spondylometaphyseal dysplasia |
| GARD:21951 |
Axonal hereditary motor and sensory neuropathy |
| GARD:20415 |
Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy |
| GARD:958 |
Aymé-Gripp syndrome |
| GARD:19662 |
Azygos continuation of the inferior vena cava |
| GARD:6104 |
B-cell chronic lymphocytic leukemia |
| GARD:22284 |
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome |
| GARD:20132 |
B-cell non-Hodgkin lymphoma |
| GARD:8223 |
B-cell prolymphocytic leukemia |
| GARD:22345 |
B-lymphoblastic leukemia/lymphoma with hyperdiploidy |
| GARD:22346 |
B-lymphoblastic leukemia/lymphoma with hypodiploidy |
| GARD:22341 |
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality |
| GARD:22344 |
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) |
| GARD:22348 |
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) |
| GARD:22347 |
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) |
| GARD:22342 |
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) |
| GARD:22343 |
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) |
| GARD:17974 |
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome |
| GARD:9841 |
B4GALT1-CDG |
| GARD:9991 |
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome |
| GARD:13219 |
BAP1-related tumor predisposition syndrome |
| GARD:13339 |
BENTA disease |
| GARD:13222 |
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy |
| GARD:10595 |
BNAR syndrome |
| GARD:10147 |
BOR syndrome |
| GARD:16746 |
BRESEK syndrome |
| GARD:17847 |
BVES-related limb-girdle muscular dystrophy |
| GARD:5878 |
Babesiosis |
| GARD:20378 |
Bacterial myositis |
| GARD:12638 |
Bacterial susceptibility due to TLR signaling pathway deficiency |
| GARD:9560 |
Bacterial toxic-shock syndrome |
| GARD:13259 |
Bainbridge-Ropers syndrome |
| GARD:809 |
Balantidiasis |
| GARD:21558 |
Balint syndrome |
| GARD:1602 |
Baller-Gerold syndrome |
| GARD:5885 |
Baló concentric sclerosis |
| GARD:414 |
Bamforth-Lazarus syndrome |
| GARD:2250 |
Band heterotopia |
| GARD:812 |
Bangstad syndrome |
| GARD:813 |
Banki syndrome |
| GARD:5887 |
Bannayan-Riley-Ruvalcaba syndrome |
| GARD:5279 |
Baraitser-Winter cerebrofrontofacial syndrome |
| GARD:15189 |
Baraitser-winter syndrome 1 |
| GARD:15817 |
Baraitser-winter syndrome 2 |
| GARD:819 |
Barber-Say syndrome |
| GARD:6866 |
Bardet-Biedl syndrome |
| GARD:820 |
Bardet-biedl syndrome 1 |
| GARD:10209 |
Bardet-biedl syndrome 10 |
| GARD:10210 |
Bardet-biedl syndrome 11 |
| GARD:10211 |
Bardet-biedl syndrome 12 |
| GARD:16037 |
Bardet-biedl syndrome 13 |
| GARD:16038 |
Bardet-biedl syndrome 14 |
| GARD:16039 |
Bardet-biedl syndrome 15 |
| GARD:16040 |
Bardet-biedl syndrome 16 |
| GARD:16041 |
Bardet-biedl syndrome 17 |
| GARD:16042 |
Bardet-biedl syndrome 18 |
| GARD:16043 |
Bardet-biedl syndrome 19 |
| GARD:821 |
Bardet-biedl syndrome 2 |
| GARD:16226 |
Bardet-biedl syndrome 21 |
| GARD:16193 |
Bardet-biedl syndrome 22 |
| GARD:822 |
Bardet-biedl syndrome 3 |
| GARD:823 |
Bardet-biedl syndrome 4 |
| GARD:10204 |
Bardet-biedl syndrome 5 |
| GARD:10205 |
Bardet-biedl syndrome 6 |
| GARD:10206 |
Bardet-biedl syndrome 7 |
| GARD:10207 |
Bardet-biedl syndrome 8 |
| GARD:10208 |
Bardet-biedl syndrome 9 |
| GARD:10664 |
Baroreflex failure |
| GARD:5890 |
Barth syndrome |
| GARD:4436 |
Bartsocas-Papas syndrome |
| GARD:10570 |
Bartsocas-papas syndrome 1 |
| GARD:16444 |
Bartsocas-papas syndrome 2 |
| GARD:5893 |
Bartter syndrome |
| GARD:22482 |
Bartter syndrome type 1 |
| GARD:22483 |
Bartter syndrome type 2 |
| GARD:9659 |
Bartter syndrome type 3 |
| GARD:10508 |
Bartter syndrome type 4 |
| GARD:22308 |
Bartter syndrome type 5 |
| GARD:15348 |
Bartter syndrome, type 4a, neonatal, with sensorineural deafness |
| GARD:15612 |
Bartter syndrome, type 4b, neonatal, with sensorineural deafness |
| GARD:20971 |
Basal encephalocele |
| GARD:15893 |
Basal ganglia calcification, idiopathic, 4 |
| GARD:15973 |
Basal ganglia calcification, idiopathic, 5 |
| GARD:16107 |
Basal ganglia calcification, idiopathic, 6 |
| GARD:16384 |
Basal ganglia calcification, idiopathic, 8, autosomal recessive |
| GARD:9598 |
Basal ganglia calcification, idiopathic, childhood-onset |
| GARD:15060 |
Basal laminar drusen |
| GARD:17821 |
Basel-Vanagaite-Smirin-Yosef syndrome |
| GARD:16938 |
Bathing suit ichthyosis |
| GARD:20069 |
Bazex syndrome |
| GARD:838 |
Bazex-Dupré-Christol syndrome |
| GARD:5900 |
Becker muscular dystrophy |
| GARD:3856 |
Becker nevus syndrome |
| GARD:3343 |
Beckwith-Wiedemann syndrome |
| GARD:20601 |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion |
| GARD:19308 |
Beckwith-Wiedemann syndrome due to 11p15 microduplication |
| GARD:20602 |
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion |
| GARD:17160 |
Beckwith-Wiedemann syndrome due to CDKN1C mutation |
| GARD:17178 |
Beckwith-Wiedemann syndrome due to NSD1 mutation |
| GARD:20600 |
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 |
| GARD:19342 |
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 |
| GARD:846 |
Beemer-Ertbruggen syndrome |
| GARD:7392 |
Behavioral variant of frontotemporal dementia |
| GARD:848 |
Behçet disease |
| GARD:2633 |
Bencze syndrome |
| GARD:21445 |
Benign Samaritan congenital myopathy |
| GARD:16758 |
Benign adult familial myoclonic epilepsy |
| GARD:20019 |
Benign cephalic histiocytosis |
| GARD:19582 |
Benign childhood occipital epilepsy, Gastaut type |
| GARD:19581 |
Benign childhood occipital epilepsy, Panayiotopoulos type |
| GARD:9887 |
Benign concentric annular macular dystrophy |
| GARD:17274 |
Benign epithelial tumor of salivary glands |
| GARD:857 |
Benign familial infantile epilepsy |
| GARD:17001 |
Benign familial mesial temporal lobe epilepsy |
| GARD:1519 |
Benign familial neonatal epilepsy |
| GARD:1518 |
Benign familial neonatal-infantile seizures |
| GARD:18728 |
Benign focal seizures of adolescence |
| GARD:1305 |
Benign hereditary chorea |
| GARD:18860 |
Benign idiopathic neonatal seizures |
| GARD:20075 |
Benign infantile focal epilepsy with midline spikes and waves during sleep |
| GARD:20074 |
Benign infantile seizures associated with mild gastroenteritis |
| GARD:21928 |
Benign metanephric tumor |
| GARD:20445 |
Benign nocturnal alternating hemiplegia of childhood |
| GARD:20071 |
Benign non-familial infantile seizures |
| GARD:2170 |
Benign occipital epilepsy |
| GARD:4176 |
Benign paroxysmal tonic upgaze of childhood with ataxia |
| GARD:18913 |
Benign paroxysmal torticollis of infancy |
| GARD:20072 |
Benign partial epilepsy of infancy with complex partial seizures |
| GARD:20073 |
Benign partial epilepsy with secondarily generalized seizures in infancy |
| GARD:20076 |
Benign partial infantile seizures |
| GARD:7180 |
Benign peripheral nerve sheath tumor |
| GARD:12185 |
Benign recurrent intrahepatic cholestasis |
| GARD:10028 |
Benign recurrent intrahepatic cholestasis type 1 |
| GARD:10029 |
Benign recurrent intrahepatic cholestasis type 2 |
| GARD:4767 |
Benign schwannoma |
| GARD:20203 |
Benign tumor of fallopian tubes |
| GARD:2470 |
Bernard-Soulier syndrome |
| GARD:15082 |
Bernard-soulier syndrome, type a2, autosomal dominant |
| GARD:182 |
Best vitelliform macular dystrophy |
| GARD:872 |
Beta-ketothiolase deficiency |
| GARD:869 |
Beta-mannosidosis |
| GARD:654 |
Beta-mercaptolactate cysteine disulfiduria |
| GARD:12570 |
Beta-propeller protein-associated neurodegeneration |
| GARD:3851 |
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 |
| GARD:871 |
Beta-thalassemia |
| GARD:21023 |
Beta-thalassemia and related diseases |
| GARD:20607 |
Beta-thalassemia associated with another hemoglobin anomaly |
| GARD:17163 |
Beta-thalassemia intermedia |
| GARD:17162 |
Beta-thalassemia major |
| GARD:20610 |
Beta-thalassemia with other manifestations |
| GARD:17166 |
Beta-thalassemia-X-linked thrombocytopenia syndrome |
| GARD:16669 |
Beta-ureidopropionase deficiency |
| GARD:873 |
Bethlem myopathy |
| GARD:16121 |
Bethlem myopathy 2 |
| GARD:20177 |
Bicervical bicornuate uterus and blind hemivagina |
| GARD:20178 |
Bicervical bicornuate uterus with patent cervix and vagina |
| GARD:18944 |
Bickerstaff brainstem encephalitis |
| GARD:20183 |
Bicornuate uterus |
| GARD:882 |
Biemond syndrome type 2 |
| GARD:10050 |
Bietti crystalline dystrophy |
| GARD:884 |
Bifid nose |
| GARD:15044 |
Bifid nose, autosomal dominant |
| GARD:15142 |
Bifid nose, autosomal recessive |
| GARD:19687 |
Bifid uvula |
| GARD:4539 |
Bifunctional enzyme deficiency |
| GARD:18897 |
Bilateral acute depigmentation of the iris |
| GARD:10783 |
Bilateral frontal polymicrogyria |
| GARD:10784 |
Bilateral frontoparietal polymicrogyria |
| GARD:10786 |
Bilateral generalized polymicrogyria |
| GARD:21409 |
Bilateral massive adrenal hemorrhage |
| GARD:16966 |
Bilateral microtia-deafness-cleft palate syndrome |
| GARD:9517 |
Bilateral multicystic dysplastic kidney |
| GARD:10785 |
Bilateral parasagittal parieto-occipital polymicrogyria |
| GARD:6011 |
Bilateral perisylvian polymicrogyria |
| GARD:17269 |
Bilateral polymicrogyria |
| GARD:6406 |
Bilateral striopallidodentate calcinosis |
| GARD:21041 |
Bile acid CoA ligase deficiency and defective amidation |
| GARD:20048 |
Bile acid synthesis defect with cholestasis and malabsorption |
| GARD:22018 |
Biliary atresia and associated disorders |
| GARD:20652 |
Biliary atresia with splenic malformation syndrome |
| GARD:15043 |
Biliary cirrhosis, primary, 1 |
| GARD:15601 |
Biliary cirrhosis, primary, 2 |
| GARD:15602 |
Biliary cirrhosis, primary, 3 |
| GARD:15776 |
Biliary cirrhosis, primary, 4 |
| GARD:15777 |
Biliary cirrhosis, primary, 5 |
| GARD:21790 |
Biliary cystadenocarcinoma |
| GARD:6830 |
Bilirubin encephalopathy |
| GARD:21873 |
Biological anomaly without phenotypic characterization |
| GARD:10237 |
Biotin-thiamine-responsive basal ganglia disease |
| GARD:894 |
Biotinidase deficiency |
| GARD:21566 |
Bipartite talus |
| GARD:5926 |
Birdshot chorioretinopathy |
| GARD:2322 |
Birt-Hogg-Dubé syndrome |
| GARD:22 |
Björnstad syndrome |
| GARD:6274 |
Blackfan-Diamond anemia |
| GARD:6398 |
Bladder exstrophy |
| GARD:19603 |
Blake pouch cyst |
| GARD:304 |
Blau syndrome |
| GARD:16691 |
Bleeding diathesis due to a collagen receptor defect |
| GARD:13293 |
Bleeding diathesis due to glycoprotein VI deficiency |
| GARD:16868 |
Bleeding diathesis due to integrin alpha2-beta1 deficiency |
| GARD:17132 |
Bleeding diathesis due to thromboxane synthesis deficiency |
| GARD:17695 |
Bleeding disorder due to CalDAG-GEFI deficiency |
| GARD:12478 |
Bleeding disorder due to P2Y12 defect |
| GARD:17076 |
Bleeding disorder in hemophilia A carriers |
| GARD:17077 |
Bleeding disorder in hemophilia B carriers |
| GARD:18272 |
Bleeding disorder, platelet-type, 15 |
| GARD:15117 |
Bleeding disorder, platelet-type, 17 |
| GARD:18491 |
Bleeding disorder, platelet-type, 20 |
| GARD:16230 |
Bleeding disorder, platelet-type, 21 |
| GARD:18273 |
Bleeding disorder, platelet-type, 24 |
| GARD:2071 |
Blepharo-cheilo-odontic syndrome |
| GARD:16244 |
Blepharocheilodontic syndrome 2 |
| GARD:4238 |
Blepharonasofacial malformation syndrome |
| GARD:10892 |
Blepharophimosis-intellectual disability syndrome |
| GARD:17341 |
Blepharophimosis-intellectual disability syndrome, MKB type |
| GARD:3348 |
Blepharophimosis-intellectual disability syndrome, Ohdo type |
| GARD:16618 |
Blepharophimosis-intellectual disability syndrome, SBBYS type |
| GARD:17342 |
Blepharophimosis-intellectual disability syndrome, Verloes type |
| GARD:22398 |
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome |
| GARD:23 |
Blepharophimosis-ptosis-epicanthus inversus syndrome |
| GARD:22312 |
Blepharophimosis-ptosis-epicanthus inversus syndrome plus |
| GARD:18008 |
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 |
| GARD:10213 |
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 |
| GARD:905 |
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome |
| GARD:912 |
Blepharoptosis-myopia-ectopia lentis syndrome |
| GARD:7008 |
Blepharospasm-oromandibular dystonia syndrome |
| GARD:17070 |
Blindness-scoliosis-arachnodactyly syndrome |
| GARD:914 |
Blomstrand lethal chondrodysplasia |
| GARD:915 |
Bloom syndrome |
| GARD:916 |
Blount disease |
| GARD:15217 |
Blount disease, adolescent |
| GARD:15120 |
Blount disease, infantile |
| GARD:917 |
Blue cone monochromatism |
| GARD:5939 |
Blue diaper syndrome |
| GARD:5940 |
Blue rubber bleb nevus |
| GARD:13063 |
Bockenheimer syndrome |
| GARD:22496 |
Body integrity dysphoria |
| GARD:16796 |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |
| GARD:10140 |
Bohring-Opitz syndrome |
| GARD:21412 |
Bolivian hemorrhagic fever |
| GARD:922 |
Bone dysplasia, lethal Holmgren type |
| GARD:15920 |
Bone mineral density quantitative trait locus 16 |
| GARD:20547 |
Bone sarcoma |
| GARD:2113 |
Bonnemann-Meinecke-Reich syndrome |
| GARD:933 |
Boomerang dysplasia |
| GARD:9363 |
Borderline epithelial tumor of ovary |
| GARD:936 |
Borjeson-Forssman-Lehmann syndrome |
| GARD:16684 |
Bosley-Salih-Alorainy syndrome |
| GARD:16734 |
Bothnia retinal dystrophy |
| GARD:943 |
Botulism |
| GARD:19031 |
Boutonneuse fever |
| GARD:5950 |
Bowen-Conradi syndrome |
| GARD:960 |
Brachydactylous dwarfism, Mseleni type |
| GARD:978 |
Brachydactyly type A1 |
| GARD:979 |
Brachydactyly type A2 |
| GARD:990 |
Brachydactyly type A4 |
| GARD:983 |
Brachydactyly type A6 |
| GARD:984 |
Brachydactyly type A7 |
| GARD:985 |
Brachydactyly type B |
| GARD:18009 |
Brachydactyly type B1 |
| GARD:16963 |
Brachydactyly type B2 |
| GARD:986 |
Brachydactyly type C |
| GARD:987 |
Brachydactyly type E |
| GARD:15407 |
Brachydactyly, type a1, b |
| GARD:15903 |
Brachydactyly, type a1, c |
| GARD:16164 |
Brachydactyly, type a1, d |
| GARD:15654 |
Brachydactyly, type e2 |
| GARD:967 |
Brachydactyly-arterial hypertension syndrome |
| GARD:966 |
Brachydactyly-elbow wrist dysplasia syndrome |
| GARD:968 |
Brachydactyly-long thumb syndrome |
| GARD:5036 |
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome |
| GARD:971 |
Brachydactyly-nystagmus-cerebellar ataxia syndrome |
| GARD:972 |
Brachydactyly-preaxial hallux varus syndrome |
| GARD:17017 |
Brachydactyly-short stature-retinitis pigmentosa syndrome |
| GARD:16821 |
Brachydactyly-syndactyly, Zhao type |
| GARD:918 |
Brachymorphism-onychodysplasia-dysphalangism syndrome |
| GARD:10903 |
Brachyolmia |
| GARD:995 |
Brachyolmia type 1, hobaek type |
| GARD:4977 |
Brachyolmia type 1, toledo type |
| GARD:16816 |
Brachyolmia, Maroteaux type |
| GARD:5478 |
Brachyolmia-amelogenesis imperfecta syndrome |
| GARD:1296 |
Brachytelephalangic chondrodysplasia punctata |
| GARD:16562 |
Brachytelephalangy-dysmorphism-Kallmann syndrome |
| GARD:16652 |
Braddock syndrome |
| GARD:12299 |
Bradyopsia |
| GARD:17082 |
Brain calcification, Rajab type |
| GARD:8397 |
Brain demyelination due to methionine adenosyltransferase deficiency |
| GARD:13594 |
Brain dopamine-serotonin vesicular transport disease |
| GARD:19818 |
Brain inflammatory disease |
| GARD:18926 |
Brain malformation-congenital heart disease-postaxial polydactyly syndrome |
| GARD:13489 |
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome |
| GARD:15107 |
Brain small vessel disease 1 with or without ocular anomalies |
| GARD:15808 |
Brain small vessel disease 2 |
| GARD:12163 |
Brain-lung-thyroid syndrome |
| GARD:19907 |
Branchial arch or oral-acral syndrome |
| GARD:3212 |
Branchio-oculo-facial syndrome |
| GARD:16648 |
Branchiogenic deafness syndrome |
| GARD:10148 |
Branchiootic syndrome |
| GARD:15053 |
Branchiootic syndrome 2 |
| GARD:15430 |
Branchiootic syndrome 3 |
| GARD:15503 |
Branchiootorenal syndrome 2 |
| GARD:955 |
Branchioskeletogenital syndrome |
| GARD:21414 |
Brazilian hemorrhagic fever |
| GARD:12351 |
Breast-ovarian cancer, familial, susceptibility to, 1 |
| GARD:12352 |
Breast-ovarian cancer, familial, susceptibility to, 2 |
| GARD:15657 |
Breast-ovarian cancer, familial, susceptibility to, 3 |
| GARD:15785 |
Breast-ovarian cancer, familial, susceptibility to, 4 |
| GARD:15045 |
Breasts and/or nipples, aplasia or hypoplasia of, 1 |
| GARD:16044 |
Breasts and/or nipples, aplasia or hypoplasia of, 2 |
| GARD:19725 |
Brill-Zinsser disease |
| GARD:1019 |
Brittle cornea syndrome |
| GARD:15764 |
Brittle cornea syndrome 2 |
| GARD:9158 |
Brody myopathy |
| GARD:19360 |
Bronchial neuroendocrine tumor |
| GARD:18054 |
Bronchiectasis with or without elevated sweat chloride 1 |
| GARD:18055 |
Bronchiectasis with or without elevated sweat chloride 2 |
| GARD:18056 |
Bronchiectasis with or without elevated sweat chloride 3 |
| GARD:5961 |
Bronchiolitis obliterans with obstructive pulmonary disease |
| GARD:1025 |
Bronchogenic cyst |
| GARD:5962 |
Bronchopulmonary dysplasia |
| GARD:10179 |
Brooke-Spiegler syndrome |
| GARD:5966 |
Brucellosis |
| GARD:1029 |
Bruck syndrome |
| GARD:10023 |
Bruck syndrome 2 |
| GARD:1030 |
Brugada syndrome |
| GARD:15526 |
Brugada syndrome 2 |
| GARD:10361 |
Brugada syndrome 3 |
| GARD:10362 |
Brugada syndrome 4 |
| GARD:15584 |
Brugada syndrome 5 |
| GARD:15619 |
Brugada syndrome 6 |
| GARD:15620 |
Brugada syndrome 7 |
| GARD:15622 |
Brugada syndrome 8 |
| GARD:16104 |
Brugada syndrome 9 |
| GARD:5968 |
Budd-Chiari syndrome |
| GARD:5969 |
Buerger disease |
| GARD:20365 |
Bulbospinal muscular atrophy |
| GARD:20367 |
Bulbospinal muscular atrophy of adult |
| GARD:20366 |
Bulbospinal muscular atrophy of childhood |
| GARD:21088 |
Bullous diffuse cutaneous mastocytosis |
| GARD:18820 |
Bullous impetigo |
| GARD:18808 |
Bullous lichen planus |
| GARD:5972 |
Bullous pemphigoid |
| GARD:22222 |
Bullous pyoderma gangrenosum |
| GARD:18546 |
Buratti-harel syndrome |
| GARD:5973 |
Burkitt lymphoma |
| GARD:10041 |
Burn-McKeown syndrome |
| GARD:5974 |
Burning mouth syndrome |
| GARD:1044 |
Buschke-Ollendorff syndrome |
| GARD:16890 |
Butterfly-shaped pigment dystrophy |
| GARD:7482 |
Butyrylcholinesterase deficiency |
| GARD:932 |
Böök syndrome |
| GARD:5978 |
C syndrome |
| GARD:17910 |
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy |
| GARD:22015 |
C12ORF65-related combined oxidative phosphorylation defect |
| GARD:12958 |
C1q deficiency |
| GARD:16487 |
C3 glomerulonephritis |
| GARD:17507 |
C3 glomerulopathy |
| GARD:231 |
CACH syndrome |
| GARD:13621 |
CAD-CDG |
| GARD:12472 |
CADDS |
| GARD:22467 |
CADINS disease |
| GARD:9977 |
CAMOS syndrome |
| GARD:9778 |
CANOMAD syndrome |
| GARD:22228 |
CAR T cell therapy-associated cytokine release syndrome |
| GARD:17845 |
CCDC115-CDG |
| GARD:22417 |
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome |
| GARD:10556 |
CD4+/CD56+ hematodermic neoplasm |
| GARD:12173 |
CDKL5-deficiency disorder |
| GARD:22273 |
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome |
| GARD:9940 |
CEDNIK syndrome |
| GARD:22306 |
CELSR1-related late-onset primary lymphedema |
| GARD:1233 |
CHAND syndrome |
| GARD:29 |
CHARGE syndrome |
| GARD:13806 |
CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome |
| GARD:6039 |
CHILD syndrome |
| GARD:310 |
CHIME syndrome |
| GARD:13169 |
CHST3-related skeletal dysplasia |
| GARD:13125 |
CIDEC-related familial partial lipodystrophy |
| GARD:1356 |
CINCA syndrome |
| GARD:17210 |
CK syndrome |
| GARD:17044 |
CLAPO syndrome |
| GARD:17880 |
CLCN4-related X-linked intellectual disability syndrome |
| GARD:18023 |
CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome |
| GARD:10779 |
CLIPPERS |
| GARD:1219 |
CLN1 disease |
| GARD:1218 |
CLN10 disease |
| GARD:17426 |
CLN11 disease |
| GARD:17527 |
CLN13 disease |
| GARD:3045 |
CLN2 disease |
| GARD:5897 |
CLN3 disease |
| GARD:6845 |
CLN4A disease |
| GARD:1222 |
CLN4B disease |
| GARD:1223 |
CLN5 disease |
| GARD:1224 |
CLN6 disease |
| GARD:1220 |
CLN7 disease |
| GARD:17152 |
CLN8 disease |
| GARD:6618 |
CLN9 disease |
| GARD:10939 |
CLOVES syndrome |
| GARD:16997 |
CNTNAP2-related developmental and epileptic encephalopathy |
| GARD:12571 |
COASY protein-associated neurodegeneration |
| GARD:1418 |
CODAS syndrome |
| GARD:6027 |
COFS syndrome |
| GARD:10226 |
COG1-CDG |
| GARD:17720 |
COG2-CDG |
| GARD:12412 |
COG4-CDG |
| GARD:12348 |
COG5-CDG |
| GARD:10944 |
COG6-CGD |
| GARD:9842 |
COG7-CDG |
| GARD:12411 |
COG8-CDG |
| GARD:21961 |
COL4A1 or COL4A2-related cerebral small vessel disease |
| GARD:21963 |
COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy |
| GARD:21962 |
COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy |
| GARD:12264 |
COL4A1-related familial vascular leukoencephalopathy |
| GARD:17566 |
CTCF-related neurodevelopmental disorder |
| GARD:1051 |
Caffey disease |
| GARD:20329 |
Calcifying aponeurotic fibroma |
| GARD:5980 |
Calciphylaxis |
| GARD:21070 |
Calciphylaxis cutis |
| GARD:22272 |
Calpain-3-related limb-girdle muscular dystrophy D4 |
| GARD:1057 |
Calpain-3-related limb-girdle muscular dystrophy R1 |
| GARD:16739 |
Calvarial doughnut lesions-bone fragility syndrome |
| GARD:1061 |
Campomelia, Cumming type |
| GARD:10027 |
Campomelic dysplasia |
| GARD:19196 |
Campomelic dysplasia and related disorders |
| GARD:1062 |
Camptobrachydactyly |
| GARD:9448 |
Camptodactyly of fingers |
| GARD:1067 |
Camptodactyly syndrome, Guadalajara type 1 |
| GARD:1068 |
Camptodactyly syndrome, Guadalajara type 2 |
| GARD:10573 |
Camptodactyly syndrome, Guadalajara type 3 |
| GARD:306 |
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome |
| GARD:1064 |
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome |
| GARD:216 |
Camptodactyly-joint contractures-facial skeletal defects syndrome |
| GARD:10012 |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
| GARD:1069 |
Camptodactyly-taurinuria syndrome |
| GARD:1071 |
Camptomelic syndrome, long-limb type |
| GARD:1072 |
Camurati-Engelmann disease |
| GARD:5984 |
Canavan disease |
| GARD:18912 |
Cancer-associated retinopathy |
| GARD:15418 |
Candidiasis, familial, 3 |
| GARD:15617 |
Candidiasis, familial, 4 |
| GARD:15093 |
Candidiasis, familial, 6 |
| GARD:15981 |
Candidiasis, familial, 8 |
| GARD:16114 |
Candidiasis, familial, 9 |
| GARD:8585 |
Cantú syndrome |
| GARD:11915 |
Cap myopathy |
| GARD:20038 |
Cap polyposis |
| GARD:11904 |
Capillary malformation-arteriovenous malformation |
| GARD:16307 |
Capillary malformation-arteriovenous malformation 2 |
| GARD:7269 |
Carbamoyl-phosphate synthetase 1 deficiency |
| GARD:20474 |
Carcinofibroma of the corpus uteri |
| GARD:5994 |
Carcinoid syndrome |
| GARD:6383 |
Carcinoma of esophagus |
| GARD:21741 |
Carcinoma of esophagus, salivary gland type |
| GARD:18850 |
Carcinoma of gallbladder and extrahepatic biliary tract |
| GARD:21786 |
Carcinoma of liver and intrahepatic biliary tract |
| GARD:21237 |
Carcinoma of the ampulla of Vater |
| GARD:21772 |
Carcinoma of the anal canal |
| GARD:20491 |
Carcinosarcoma of the cervix uteri |
| GARD:12335 |
Carcinosarcoma of the corpus uteri |
| GARD:19883 |
Cardiac anomalies-heterotaxy syndrome |
| GARD:15967 |
Cardiac arrhythmia syndrome, with or without skeletal muscle weakness |
| GARD:10432 |
Cardiac arrhythmia, ankyrin-b-related |
| GARD:1094 |
Cardiac diverticulum |
| GARD:15148 |
Cardiac lipidosis, familial |
| GARD:12613 |
Cardiac-valvular Ehlers-Danlos syndrome |
| GARD:8586 |
Cardiocranial syndrome, Pfeiffer type |
| GARD:9146 |
Cardiofaciocutaneous syndrome |
| GARD:15935 |
Cardiofaciocutaneous syndrome 2 |
| GARD:15936 |
Cardiofaciocutaneous syndrome 3 |
| GARD:15937 |
Cardiofaciocutaneous syndrome 4 |
| GARD:19362 |
Cardiogenic shock |
| GARD:1104 |
Cardiomyopathy, dilated, 1a |
| GARD:15543 |
Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction |
| GARD:15323 |
Cardiomyopathy, dilated, 1b |
| GARD:15588 |
Cardiomyopathy, dilated, 1bb |
| GARD:15331 |
Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction |
| GARD:15621 |
Cardiomyopathy, dilated, 1cc |
| GARD:15332 |
Cardiomyopathy, dilated, 1d |
| GARD:15627 |
Cardiomyopathy, dilated, 1dd |
| GARD:5644 |
Cardiomyopathy, dilated, 1e |
| GARD:15639 |
Cardiomyopathy, dilated, 1ee |
| GARD:15643 |
Cardiomyopathy, dilated, 1ff |
| GARD:15363 |
Cardiomyopathy, dilated, 1g |
| GARD:15684 |
Cardiomyopathy, dilated, 1gg |
| GARD:15365 |
Cardiomyopathy, dilated, 1h |
| GARD:15726 |
Cardiomyopathy, dilated, 1hh |
| GARD:15372 |
Cardiomyopathy, dilated, 1i |
| GARD:15916 |
Cardiomyopathy, dilated, 1ii |
| GARD:15924 |
Cardiomyopathy, dilated, 1jj |
| GARD:15382 |
Cardiomyopathy, dilated, 1k |
| GARD:15926 |
Cardiomyopathy, dilated, 1kk |
| GARD:15397 |
Cardiomyopathy, dilated, 1l |
| GARD:15413 |
Cardiomyopathy, dilated, 1m |
| GARD:16031 |
Cardiomyopathy, dilated, 1nn |
| GARD:15434 |
Cardiomyopathy, dilated, 1o |
| GARD:15469 |
Cardiomyopathy, dilated, 1p |
| GARD:15470 |
Cardiomyopathy, dilated, 1q |
| GARD:15661 |
Cardiomyopathy, dilated, 1r |
| GARD:12832 |
Cardiomyopathy, dilated, 1s |
| GARD:15689 |
Cardiomyopathy, dilated, 1u |
| GARD:15690 |
Cardiomyopathy, dilated, 1v |
| GARD:15515 |
Cardiomyopathy, dilated, 1w |
| GARD:15522 |
Cardiomyopathy, dilated, 1x |
| GARD:15530 |
Cardiomyopathy, dilated, 1y |
| GARD:15531 |
Cardiomyopathy, dilated, 1z |
| GARD:15532 |
Cardiomyopathy, dilated, 2a |
| GARD:15832 |
Cardiomyopathy, dilated, 2b |
| GARD:16305 |
Cardiomyopathy, dilated, 2c |
| GARD:15287 |
Cardiomyopathy, dilated, 3b |
| GARD:16014 |
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis |
| GARD:18070 |
Cardiomyopathy, familial restrictive, 1 |
| GARD:18071 |
Cardiomyopathy, familial restrictive, 2 |
| GARD:18072 |
Cardiomyopathy, familial restrictive, 3 |
| GARD:1102 |
Cardiomyopathy-cataract-hip spine disease syndrome |
| GARD:16795 |
Cardiomyopathy-hypotonia-lactic acidosis syndrome |
| GARD:2362 |
Cardiospondylocarpofacial syndrome |
| GARD:3889 |
Carey-Fineman-Ziter syndrome |
| GARD:19372 |
Caribbean parkinsonism |
| GARD:1119 |
Carney complex |
| GARD:15090 |
Carney complex, type 1 |
| GARD:15377 |
Carney complex, type 2 |
| GARD:17448 |
Carney complex-trismus-pseudocamptodactyly syndrome |
| GARD:10924 |
Carney triad |
| GARD:10643 |
Carney-Stratakis syndrome |
| GARD:1120 |
Carnitine palmitoyl transferase 1A deficiency |
| GARD:17149 |
Carnitine palmitoyl transferase II deficiency, myopathic form |
| GARD:17151 |
Carnitine palmitoyl transferase II deficiency, neonatal form |
| GARD:17150 |
Carnitine palmitoyl transferase II deficiency, severe infantile form |
| GARD:1121 |
Carnitine palmitoyltransferase II deficiency |
| GARD:1123 |
Carnitine-acylcarnitine translocase deficiency |
| GARD:6001 |
Carnosinase deficiency |
| GARD:6002 |
Caroli disease |
| GARD:21976 |
Caroli syndrome |
| GARD:6003 |
Carpenter syndrome |
| GARD:15128 |
Carpenter syndrome 1 |
| GARD:15889 |
Carpenter syndrome 2 |
| GARD:1128 |
Carpotarsal osteochondromatosis |
| GARD:6996 |
Cartilage-hair hypoplasia |
| GARD:5595 |
Carvajal syndrome |
| GARD:12656 |
Castleman disease |
| GARD:26 |
Cat-eye syndrome |
| GARD:27 |
Cat-scratch disease |
| GARD:15047 |
Cataract 1, multiple types |
| GARD:9892 |
Cataract 18 |
| GARD:15327 |
Cataract 24 |
| GARD:18232 |
Cataract 25 |
| GARD:18235 |
Cataract 27 |
| GARD:18233 |
Cataract 29 |
| GARD:15335 |
Cataract 3, multiple types |
| GARD:18236 |
Cataract 33, multiple types |
| GARD:15599 |
Cataract 34, multiple types |
| GARD:9492 |
Cataract 35 |
| GARD:15800 |
Cataract 37 |
| GARD:1144 |
Cataract 4, multiple types |
| GARD:18234 |
Cataract 41 |
| GARD:16127 |
Cataract 44 |
| GARD:16350 |
Cataract 48 |
| GARD:15046 |
Cataract 7 |
| GARD:15364 |
Cataract 9, multiple types |
| GARD:5554 |
Cataract-aberrant oral frenula-growth delay syndrome |
| GARD:1141 |
Cataract-ataxia-deafness syndrome |
| GARD:17440 |
Cataract-congenital heart disease-neural tube defect syndrome |
| GARD:248 |
Cataract-deafness-hypogonadism syndrome |
| GARD:1160 |
Cataract-glaucoma syndrome |
| GARD:17727 |
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome |
| GARD:1052 |
Cataract-hypertrichosis-intellectual disability syndrome |
| GARD:192 |
Cataract-intellectual disability-anal atresia-urinary defects syndrome |
| GARD:3406 |
Cataract-intellectual disability-hypogonadism syndrome |
| GARD:1155 |
Cataract-microcornea syndrome |
| GARD:1614 |
Cataract-nephropathy-encephalopathy syndrome |
| GARD:9820 |
Catastrophic antiphospholipid syndrome |
| GARD:4421 |
Catecholaminergic polymorphic ventricular tachycardia |
| GARD:28 |
Catel-Manzke syndrome |
| GARD:22320 |
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy |
| GARD:1163 |
Caudal appendage-deafness syndrome |
| GARD:1164 |
Caudal duplication |
| GARD:6007 |
Caudal regression syndrome |
| GARD:21862 |
Caudal regression-sirenomelia spectrum |
| GARD:20066 |
Cavitary myiasis |
| GARD:12308 |
Celiac artery compression syndrome |
| GARD:2166 |
Celiac disease-epilepsy-cerebral calcification syndrome |
| GARD:5084 |
Cenani-Lenz syndrome |
| GARD:10049 |
Central areolar choroidal dystrophy |
| GARD:16881 |
Central cloudy dystrophy of François |
| GARD:12280 |
Central congenital hypothyroidism |
| GARD:6014 |
Central core disease |
| GARD:6015 |
Central diabetes insipidus |
| GARD:18789 |
Central nervous system calcification-deafness-tubular acidosis-anemia syndrome |
| GARD:20988 |
Central nervous system cystic malformation |
| GARD:20718 |
Central nervous system embryonal tumor |
| GARD:19394 |
Central nervous system malformation |
| GARD:10641 |
Central neurocytoma |
| GARD:21200 |
Central polydactyly |
| GARD:16546 |
Central precocious puberty |
| GARD:21734 |
Central retinal vein occlusion |
| GARD:200 |
Central serous chorioretinopathy |
| GARD:19125 |
Centrifugal lipodystrophy |
| GARD:101 |
Centronuclear myopathy |
| GARD:20967 |
Cephalocele |
| GARD:15384 |
Cerebellar ataxia and hypergonadotropic hypogonadism |
| GARD:17937 |
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome |
| GARD:20385 |
Cerebellar ataxia with peripheral neuropathy |
| GARD:16836 |
Cerebellar ataxia, Cayman type |
| GARD:15473 |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 |
| GARD:15634 |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 |
| GARD:15930 |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 |
| GARD:1188 |
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome |
| GARD:1189 |
Cerebellar ataxia-ectodermal dysplasia syndrome |
| GARD:3314 |
Cerebellar ataxia-hypogonadism syndrome |
| GARD:18020 |
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome |
| GARD:1196 |
Cerebellar hypoplasia-tapetoretinal degeneration syndrome |
| GARD:10642 |
Cerebellar liponeurocytoma |
| GARD:20238 |
Cerebellar malformation |
| GARD:17761 |
Cerebellar-facial-dental syndrome |
| GARD:3020 |
Cerebral arteriovenous malformation |
| GARD:1049 |
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy |
| GARD:10424 |
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy |
| GARD:18313 |
Cerebral cavernous malformations 2 |
| GARD:18314 |
Cerebral cavernous malformations 3 |
| GARD:20982 |
Cerebral cortical dysplasia |
| GARD:20091 |
Cerebral diseases of vascular origin with epilepsy |
| GARD:19491 |
Cerebral lipidosis with dementia |
| GARD:20088 |
Cerebral malformation with epilepsy |
| GARD:18945 |
Cerebral organic aciduria |
| GARD:18309 |
Cerebral palsy, spastic quadriplegic, 2 |
| GARD:18310 |
Cerebral palsy, spastic quadriplegic, 3 |
| GARD:21485 |
Cerebral sinovenous thrombosis |
| GARD:21871 |
Cerebral visual impairment |
| GARD:6026 |
Cerebrocostomandibular syndrome |
| GARD:12662 |
Cerebrofacial arteriovenous metameric syndrome |
| GARD:19959 |
Cerebrofacial arteriovenous metameric syndrome type 1 |
| GARD:19960 |
Cerebrofacial arteriovenous metameric syndrome type 3 |
| GARD:5456 |
Cerebrofacioarticular syndrome |
| GARD:1210 |
Cerebrofaciothoracic dysplasia |
| GARD:15150 |
Cerebrooculofacioskeletal syndrome 1 |
| GARD:15497 |
Cerebrooculofacioskeletal syndrome 2 |
| GARD:16140 |
Cerebrooculofacioskeletal syndrome 3 |
| GARD:15498 |
Cerebrooculofacioskeletal syndrome 4 |
| GARD:3480 |
Cerebrooculonasal syndrome |
| GARD:15458 |
Cerebrorenodigital syndrome with limb malformations and triradiate acetabula |
| GARD:18441 |
Cerebroretinal microangiopathy with calcifications and cysts 1 |
| GARD:18442 |
Cerebroretinal microangiopathy with calcifications and cysts 2 |
| GARD:5622 |
Cerebrotendinous xanthomatosis |
| GARD:17045 |
Cernunnos-XLF deficiency |
| GARD:9508 |
Cerulean cataract |
| GARD:19639 |
Cervical aortic arch |
| GARD:19937 |
Cervical dermoid cyst |
| GARD:1226 |
Cervical hypertrichosis-peripheral neuropathy syndrome |
| GARD:20955 |
Cervical spina bifida aperta |
| GARD:20962 |
Cervical spina bifida cystica |
| GARD:19941 |
Cervicofacial fibrochondroma |
| GARD:20956 |
Cervicothoracic spina bifida aperta |
| GARD:20963 |
Cervicothoracic spina bifida cystica |
| GARD:6033 |
Chandler syndrome |
| GARD:20242 |
Channelopathy with epilepsy |
| GARD:21415 |
Chapare hemorrhagic fever |
| GARD:1237 |
Char syndrome |
| GARD:12433 |
Charcot-Marie-Tooth disease type 1 |
| GARD:1245 |
Charcot-Marie-Tooth disease type 1A |
| GARD:1246 |
Charcot-Marie-Tooth disease type 1B |
| GARD:1247 |
Charcot-Marie-Tooth disease type 1C |
| GARD:9189 |
Charcot-Marie-Tooth disease type 1D |
| GARD:9190 |
Charcot-Marie-Tooth disease type 1E |
| GARD:9191 |
Charcot-Marie-Tooth disease type 1F |
| GARD:8548 |
Charcot-Marie-Tooth disease type 2B1 |
| GARD:1249 |
Charcot-Marie-Tooth disease type 2B2 |
| GARD:17153 |
Charcot-Marie-Tooth disease type 2B5 |
| GARD:9196 |
Charcot-Marie-Tooth disease type 2H |
| GARD:12435 |
Charcot-Marie-Tooth disease type 2P |
| GARD:12451 |
Charcot-Marie-Tooth disease type 2R |
| GARD:17751 |
Charcot-Marie-Tooth disease type 2S |
| GARD:17909 |
Charcot-Marie-Tooth disease type 2T |
| GARD:12440 |
Charcot-Marie-Tooth disease type 4 |
| GARD:1252 |
Charcot-Marie-Tooth disease type 4A |
| GARD:1253 |
Charcot-Marie-Tooth disease type 4B1 |
| GARD:9200 |
Charcot-Marie-Tooth disease type 4B2 |
| GARD:17578 |
Charcot-Marie-Tooth disease type 4B3 |
| GARD:9201 |
Charcot-Marie-Tooth disease type 4C |
| GARD:3973 |
Charcot-Marie-Tooth disease type 4D |
| GARD:9203 |
Charcot-Marie-Tooth disease type 4E |
| GARD:12441 |
Charcot-Marie-Tooth disease type 4F |
| GARD:10132 |
Charcot-Marie-Tooth disease type 4G |
| GARD:12442 |
Charcot-Marie-Tooth disease type 4H |
| GARD:12443 |
Charcot-Marie-Tooth disease type 4J |
| GARD:16786 |
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome |
| GARD:6034 |
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy |
| GARD:1261 |
Charlie M syndrome |
| GARD:412 |
Cheilitis glandularis |
| GARD:19682 |
Cheirospondyloenchondromatosis |
| GARD:6036 |
Cherubism |
| GARD:6038 |
Chikungunya |
| GARD:19130 |
Chilblain lupus |
| GARD:18493 |
Chilblain lupus 1 |
| GARD:18494 |
Chilblain lupus 2 |
| GARD:16667 |
Childhood absence epilepsy |
| GARD:6040 |
Childhood disintegrative disorder |
| GARD:13571 |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| GARD:22362 |
Childhood-onset Steinert myotonic dystrophy |
| GARD:17568 |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
| GARD:12232 |
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia |
| GARD:17918 |
Childhood-onset basal ganglia degeneration syndrome |
| GARD:17906 |
Childhood-onset benign chorea with striatal involvement |
| GARD:19437 |
Childhood-onset epilepsy syndrome |
| GARD:8735 |
Childhood-onset hypophosphatasia |
| GARD:13658 |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
| GARD:7171 |
Childhood-onset nemaline myopathy |
| GARD:21942 |
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome |
| GARD:12681 |
Childhood-onset spasticity with hyperglycinemia |
| GARD:16951 |
Choanal atresia |
| GARD:19890 |
Choanal atresia, bilateral |
| GARD:19889 |
Choanal atresia, unilateral |
| GARD:22366 |
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
| GARD:9304 |
Cholangiocarcinoma |
| GARD:15992 |
Cholangiocarcinoma, susceptibility to |
| GARD:21973 |
Choledochal cyst |
| GARD:6043 |
Cholera |
| GARD:15888 |
Cholestasis, intrahepatic, of pregnancy 3 |
| GARD:15079 |
Cholestasis, intrahepatic, of pregnancy, 1 |
| GARD:18621 |
Cholestasis, progressive familial intrahepatic, 4 |
| GARD:370 |
Cholestasis-lymphedema syndrome |
| GARD:9280 |
Cholestasis-pigmentary retinopathy-cleft palate syndrome |
| GARD:16724 |
Cholesterol-ester transfer protein deficiency |
| GARD:12099 |
Cholesteryl ester storage disease |
| GARD:6048 |
Chondrocalcinosis 1 |
| GARD:8542 |
Chondrodysplasia punctata |
| GARD:16716 |
Chondrodysplasia punctata, Toriello type |
| GARD:15347 |
Chondrodysplasia punctata, brachytelephalangic, autosomal |
| GARD:16715 |
Chondrodysplasia punctata, tibial-metacarpal type |
| GARD:11009 |
Chondrodysplasia with joint dislocations, gPAPP type |
| GARD:16565 |
Chondrodysplasia-disorder of sex development syndrome |
| GARD:21408 |
Chondroectodermal dysplasia with night blindness |
| GARD:21720 |
Chondromyxoid fibroma |
| GARD:6055 |
Chondrosarcoma |
| GARD:20715 |
Chordoid glioma |
| GARD:1303 |
Chordoma |
| GARD:15152 |
Chorea, benign familial |
| GARD:3956 |
Choreoacanthocytosis |
| GARD:20734 |
Choriocarcinoma of the central nervous system |
| GARD:8238 |
Choroid plexus carcinoma |
| GARD:20722 |
Choroid plexus tumor |
| GARD:3704 |
Choroidal atrophy-alopecia syndrome |
| GARD:15615 |
Choroidal dystrophy, central areolar 2 |
| GARD:15623 |
Choroidal dystrophy, central areolar, 3 |
| GARD:6061 |
Choroideremia |
| GARD:10572 |
Christianson syndrome |
| GARD:1319 |
Chromomycosis |
| GARD:6064 |
Chromophobe renal cell carcinoma |
| GARD:19528 |
Chromosomal anomaly with cataract |
| GARD:20085 |
Chromosomal anomaly with epilepsy as a major feature |
| GARD:19214 |
Chromosomal disease with overgrowth |
| GARD:15572 |
Chromosome 17p13.3, telomeric, duplication syndrome |
| GARD:16461 |
Chromosome 20q11-q12 deletion syndrome |
| GARD:15688 |
Chromosome 2q31.1 duplication syndrome |
| GARD:15589 |
Chromosome 5q14.3 deletion syndrome, distal |
| GARD:19430 |
Chromosome X structural anomaly |
| GARD:19429 |
Chromosome Y structural anomaly |
| GARD:22683 |
Chromosome xp11.22 duplication syndrome |
| GARD:18433 |
Chromosome xq26.3 duplication syndrome |
| GARD:15266 |
Chromosome xq28 duplication syndrome |
| GARD:9534 |
Chronic Epstein-Barr virus infection syndrome |
| GARD:20409 |
Chronic acquired demyelinating polyneuropathy |
| GARD:21506 |
Chronic actinic dermatitis |
| GARD:12281 |
Chronic atrial and intestinal dysrhythmia syndrome |
| GARD:867 |
Chronic beryllium disease |
| GARD:22198 |
Chronic bilirubin encephalopathy |
| GARD:20043 |
Chronic cutaneous lupus erythematosus |
| GARD:19838 |
Chronic diarrhea due to glucoamylase deficiency |
| GARD:16576 |
Chronic diarrhea with villous atrophy |
| GARD:19434 |
Chronic encephalitis |
| GARD:21060 |
Chronic endophthalmitis |
| GARD:21946 |
Chronic enteropathy associated with SLCO2A1 gene |
| GARD:20104 |
Chronic eosinophilic leukemia |
| GARD:10964 |
Chronic graft versus host disease |
| GARD:6100 |
Chronic granulomatous disease |
| GARD:19256 |
Chronic hepatic porphyria |
| GARD:6657 |
Chronic hiccup |
| GARD:17417 |
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity |
| GARD:6102 |
Chronic inflammatory demyelinating polyneuropathy |
| GARD:22443 |
Chronic intervillositis of unknown etiology |
| GARD:21178 |
Chronic intestinal failure |
| GARD:12744 |
Chronic intestinal pseudoobstruction |
| GARD:22072 |
Chronic lymphoproliferative disorder of natural killer cells |
| GARD:22277 |
Chronic mast cell leukemia |
| GARD:1077 |
Chronic mucocutaneous candidiasis |
| GARD:6105 |
Chronic myeloid leukemia |
| GARD:8225 |
Chronic myelomonocytic leukemia |
| GARD:16764 |
Chronic myeloproliferative disease, unclassifiable |
| GARD:22456 |
Chronic neurovisceral acid sphingomyelinase deficiency |
| GARD:10585 |
Chronic neutrophilic leukemia |
| GARD:6108 |
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis |
| GARD:19166 |
Chronic pneumonitis of infancy |
| GARD:20410 |
Chronic polyradiculoneuropathy |
| GARD:19803 |
Chronic primary adrenal insufficiency |
| GARD:22038 |
Chronic relapsing inflammatory optic neuropathy |
| GARD:17127 |
Chronic respiratory distress with surfactant metabolism deficiency |
| GARD:13124 |
Chronic thromboembolic pulmonary hypertension |
| GARD:10729 |
Chronic visceral acid sphingomyelinase deficiency |
| GARD:86 |
Chudley-McCullough syndrome |
| GARD:17176 |
Chuvash erythrocytosis |
| GARD:9683 |
Chylomicron retention disease |
| GARD:1359 |
Chylous ascites |
| GARD:6035 |
Chédiak-Higashi syndrome |
| GARD:1360 |
Ciliary discoordination due to random ciliary orientation |
| GARD:2981 |
Ciliary dyskinesia with defective radial spokes |
| GARD:2982 |
Ciliary dyskinesia with excessively long cilia |
| GARD:1361 |
Ciliary dyskinesia with transposition of ciliary microtubules |
| GARD:15560 |
Ciliary dyskinesia, primary, 10 |
| GARD:15574 |
Ciliary dyskinesia, primary, 11 |
| GARD:15575 |
Ciliary dyskinesia, primary, 12 |
| GARD:15628 |
Ciliary dyskinesia, primary, 13 |
| GARD:15713 |
Ciliary dyskinesia, primary, 14 |
| GARD:15714 |
Ciliary dyskinesia, primary, 15 |
| GARD:15743 |
Ciliary dyskinesia, primary, 16 |
| GARD:15835 |
Ciliary dyskinesia, primary, 17 |
| GARD:15868 |
Ciliary dyskinesia, primary, 18 |
| GARD:15883 |
Ciliary dyskinesia, primary, 19 |
| GARD:15400 |
Ciliary dyskinesia, primary, 2 |
| GARD:15902 |
Ciliary dyskinesia, primary, 20 |
| GARD:15940 |
Ciliary dyskinesia, primary, 21 |
| GARD:15968 |
Ciliary dyskinesia, primary, 22 |
| GARD:15969 |
Ciliary dyskinesia, primary, 23 |
| GARD:15971 |
Ciliary dyskinesia, primary, 24 |
| GARD:15972 |
Ciliary dyskinesia, primary, 25 |
| GARD:15974 |
Ciliary dyskinesia, primary, 26 |
| GARD:15976 |
Ciliary dyskinesia, primary, 27 |
| GARD:15977 |
Ciliary dyskinesia, primary, 28 |
| GARD:16025 |
Ciliary dyskinesia, primary, 29 |
| GARD:15436 |
Ciliary dyskinesia, primary, 3 |
| GARD:16052 |
Ciliary dyskinesia, primary, 30 |
| GARD:16122 |
Ciliary dyskinesia, primary, 32 |
| GARD:16154 |
Ciliary dyskinesia, primary, 33 |
| GARD:16187 |
Ciliary dyskinesia, primary, 34 |
| GARD:16188 |
Ciliary dyskinesia, primary, 35 |
| GARD:15280 |
Ciliary dyskinesia, primary, 36, x-linked |
| GARD:16239 |
Ciliary dyskinesia, primary, 37 |
| GARD:16288 |
Ciliary dyskinesia, primary, 38 |
| GARD:15437 |
Ciliary dyskinesia, primary, 4 |
| GARD:16353 |
Ciliary dyskinesia, primary, 41 |
| GARD:16373 |
Ciliary dyskinesia, primary, 42 |
| GARD:16380 |
Ciliary dyskinesia, primary, 44 |
| GARD:16383 |
Ciliary dyskinesia, primary, 45 |
| GARD:15438 |
Ciliary dyskinesia, primary, 5 |
| GARD:15502 |
Ciliary dyskinesia, primary, 6 |
| GARD:15533 |
Ciliary dyskinesia, primary, 7 |
| GARD:15546 |
Ciliary dyskinesia, primary, 8 |
| GARD:15558 |
Ciliary dyskinesia, primary, 9 |
| GARD:16822 |
Ciliopathies with major skeletal involvement |
| GARD:21544 |
Ciliopathy |
| GARD:18898 |
Circumscribed palmoplantar hypokeratosis |
| GARD:10706 |
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome |
| GARD:18852 |
Cirrhotic cardiomyopathy |
| GARD:20661 |
Citrin deficiency |
| GARD:16522 |
Citrullinemia |
| GARD:6114 |
Citrullinemia type I |
| GARD:10215 |
Citrullinemia type II |
| GARD:9994 |
Clark-Baraitser syndrome |
| GARD:6520 |
Class I glucose-6-phosphate dehydrogenase deficiency |
| GARD:16529 |
Classic Hodgkin lymphoma |
| GARD:19594 |
Classic Hodgkin lymphoma, lymphocyte-depleted type |
| GARD:19593 |
Classic Hodgkin lymphoma, lymphocyte-rich type |
| GARD:19592 |
Classic Hodgkin lymphoma, mixed cellularity type |
| GARD:19591 |
Classic Hodgkin lymphoma, nodular sclerosis type |
| GARD:12665 |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
| GARD:21398 |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form |
| GARD:21399 |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form |
| GARD:21473 |
Classic congenital lipoid adrenal hyperplasia due to STAR deficency |
| GARD:22452 |
Classic eosinophilic pustular folliculitis |
| GARD:13639 |
Classic galactosemia |
| GARD:9265 |
Classic glucose transporter type 1 deficiency syndrome |
| GARD:6560 |
Classic hairy cell leukemia |
| GARD:6667 |
Classic homocystinuria |
| GARD:5049 |
Classic lissencephaly |
| GARD:17263 |
Classic maple syrup urine disease |
| GARD:17216 |
Classic medulloblastoma |
| GARD:13661 |
Classic multiminicore myopathy |
| GARD:3863 |
Classic mycosis fungoides |
| GARD:21500 |
Classic neuroendocrine tumor of appendix |
| GARD:18947 |
Classic organic aciduria |
| GARD:17114 |
Classic pantothenate kinase-associated neurodegeneration |
| GARD:18982 |
Classic phenylketonuria |
| GARD:17182 |
Classic progressive supranuclear palsy syndrome |
| GARD:22220 |
Classic pyoderma gangrenosum |
| GARD:17754 |
Classic stiff person syndrome |
| GARD:2088 |
Classical Ehlers-Danlos syndrome |
| GARD:8507 |
Classical-like Ehlers-Danlos syndrome type 1 |
| GARD:17975 |
Classical-like Ehlers-Danlos syndrome type 2 |
| GARD:21652 |
Clear cell adenocarcinoma of the ovary |
| GARD:21721 |
Clear cell papillary renal cell carcinoma |
| GARD:9574 |
Clear cell renal carcinoma |
| GARD:21905 |
Clear cell sarcoma of kidney |
| GARD:19774 |
Cleft hard palate |
| GARD:16976 |
Cleft lip and alveolus |
| GARD:22068 |
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome |
| GARD:18754 |
Cleft lip with or without cleft palate |
| GARD:435 |
Cleft lip-retinopathy syndrome |
| GARD:17092 |
Cleft lip/palate |
| GARD:18755 |
Cleft lip/palate-deafness-sacral lipoma syndrome |
| GARD:375 |
Cleft lip/palate-ectodermal dysplasia syndrome |
| GARD:3430 |
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome |
| GARD:19267 |
Cleft mitral valve |
| GARD:1896 |
Cleft palate |
| GARD:162 |
Cleft palate-large ears-small head syndrome |
| GARD:1391 |
Cleft palate-lateral synechia syndrome |
| GARD:1392 |
Cleft palate-short stature-vertebral anomalies syndrome |
| GARD:1393 |
Cleft palate-stapes fixation-oligodontia syndrome |
| GARD:18243 |
Cleft soft palate |
| GARD:16907 |
Cleft velum |
| GARD:6118 |
Cleidocranial dysplasia |
| GARD:19206 |
Cleidocranial dysplasia and isolated cranial ossification defect |
| GARD:10623 |
Cleidocranial dysplasia, recessive form |
| GARD:5532 |
Cleidorhizomelic syndrome |
| GARD:19609 |
Climatic droplet keratopathy |
| GARD:4080 |
Cloacal exstrophy |
| GARD:20950 |
Closed iniencephaly |
| GARD:853 |
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome |
| GARD:16811 |
Cloverleaf skull-multiple congenital anomalies syndrome |
| GARD:15153 |
Coach syndrome 1 |
| GARD:16422 |
Coach syndrome 2 |
| GARD:16423 |
Coach syndrome 3 |
| GARD:6121 |
Coats disease |
| GARD:17412 |
Coats plus syndrome |
| GARD:3277 |
Cobblestone lissencephaly |
| GARD:17526 |
Cobblestone lissencephaly without muscular or ocular involvement |
| GARD:1413 |
Cocaine embryofetopathy |
| GARD:19115 |
Cocaine intoxication |
| GARD:9525 |
Coccidioidomycosis |
| GARD:22045 |
Cochlear nerve deficiency |
| GARD:9418 |
Cochleosaccular degeneration-cataract syndrome |
| GARD:22044 |
Cochleovestibular malformation |
| GARD:6122 |
Cockayne syndrome |
| GARD:15154 |
Cockayne syndrome a |
| GARD:15067 |
Cockayne syndrome b |
| GARD:1415 |
Cockayne syndrome type 1 |
| GARD:1420 |
Cockayne syndrome type 2 |
| GARD:1417 |
Cockayne syndrome type 3 |
| GARD:10423 |
Coenzyme Q10 deficiency |
| GARD:18378 |
Coenzyme q10 deficiency, primary, 1 |
| GARD:18379 |
Coenzyme q10 deficiency, primary, 3 |
| GARD:15539 |
Coenzyme q10 deficiency, primary, 4 |
| GARD:16403 |
Coenzyme q10 deficiency, primary, 9 |
| GARD:6123 |
Coffin-Lowry syndrome |
| GARD:6124 |
Coffin-Siris syndrome |
| GARD:15072 |
Coffin-siris syndrome 1 |
| GARD:16358 |
Coffin-siris syndrome 10 |
| GARD:16379 |
Coffin-siris syndrome 11 |
| GARD:16443 |
Coffin-siris syndrome 12 |
| GARD:15820 |
Coffin-siris syndrome 2 |
| GARD:15821 |
Coffin-siris syndrome 3 |
| GARD:15822 |
Coffin-siris syndrome 4 |
| GARD:16170 |
Coffin-siris syndrome 5 |
| GARD:16254 |
Coffin-siris syndrome 6 |
| GARD:16287 |
Coffin-siris syndrome 7 |
| GARD:16347 |
Coffin-siris syndrome 8 |
| GARD:16023 |
Coffin-siris syndrome 9 |
| GARD:1421 |
Cogan syndrome |
| GARD:6125 |
Cogan-Reese syndrome |
| GARD:12845 |
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome |
| GARD:6126 |
Cohen syndrome |
| GARD:16235 |
Cohen-gibson syndrome |
| GARD:18803 |
Colchicine poisoning |
| GARD:6130 |
Cold agglutinin disease |
| GARD:16983 |
Cold-induced sweating syndrome |
| GARD:21708 |
Cold-induced sweating syndrome-hyperthermia spectrum |
| GARD:1425 |
Cole-Carpenter syndrome |
| GARD:16077 |
Cole-carpenter syndrome 2 |
| GARD:19048 |
Collagen type III glomerulopathy |
| GARD:22237 |
Collagen-related glomerular basement membrane disease |
| GARD:9573 |
Collecting duct carcinoma |
| GARD:16875 |
Coloboma of choroid and retina |
| GARD:1433 |
Coloboma of eye lens |
| GARD:19605 |
Coloboma of eyelid |
| GARD:19978 |
Coloboma of inferior eyelid |
| GARD:1434 |
Coloboma of iris |
| GARD:1436 |
Coloboma of macula |
| GARD:1437 |
Coloboma of macula-brachydactyly type B syndrome |
| GARD:1438 |
Coloboma of optic disc |
| GARD:19977 |
Coloboma of superior eyelid |
| GARD:18021 |
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome |
| GARD:17844 |
Colobomatous macrophthalmia-microcornea syndrome |
| GARD:3644 |
Colobomatous microphthalmia |
| GARD:17575 |
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome |
| GARD:17707 |
Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
| GARD:17719 |
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome |
| GARD:1446 |
Colonic atresia |
| GARD:19537 |
Color-vision disease |
| GARD:19042 |
Colorado tick fever |
| GARD:15457 |
Colorectal cancer, hereditary nonpolyposis, type 2 |
| GARD:15791 |
Colorectal cancer, hereditary nonpolyposis, type 4 |
| GARD:15792 |
Colorectal cancer, hereditary nonpolyposis, type 5 |
| GARD:15789 |
Colorectal cancer, hereditary nonpolyposis, type 6 |
| GARD:15799 |
Colorectal cancer, hereditary nonpolyposis, type 7 |
| GARD:15638 |
Colorectal cancer, hereditary nonpolyposis, type 8 |
| GARD:18485 |
Colorectal cancer, susceptibility to, 10 |
| GARD:18486 |
Colorectal cancer, susceptibility to, 12 |
| GARD:19806 |
Combined T and B cell immunodeficiency |
| GARD:16639 |
Combined deficiency of factor V and factor VIII |
| GARD:22418 |
Combined deficiency of factor VII and factor X |
| GARD:19432 |
Combined dystonia |
| GARD:21843 |
Combined hamartoma of the retina and retinal pigment epithelium |
| GARD:22200 |
Combined hepatocellular carcinoma and cholangiocarcinoma |
| GARD:20541 |
Combined hyperactive dysfunction syndrome of the cranial nerves |
| GARD:17981 |
Combined immunodeficiency due to CARMIL2 deficiency |
| GARD:17174 |
Combined immunodeficiency due to CD27 deficiency |
| GARD:17046 |
Combined immunodeficiency due to CD3gamma deficiency |
| GARD:17978 |
Combined immunodeficiency due to CD70 deficiency |
| GARD:17048 |
Combined immunodeficiency due to CRAC channel dysfunction |
| GARD:2816 |
Combined immunodeficiency due to DOCK8 deficiency |
| GARD:17941 |
Combined immunodeficiency due to GINS1 deficiency |
| GARD:17550 |
Combined immunodeficiency due to IL21R deficiency |
| GARD:17979 |
Combined immunodeficiency due to ITK deficiency |
| GARD:13565 |
Combined immunodeficiency due to LRBA deficiency |
| GARD:17647 |
Combined immunodeficiency due to MALT1 deficiency |
| GARD:17939 |
Combined immunodeficiency due to Moesin deficiency |
| GARD:10524 |
Combined immunodeficiency due to ORAI1 deficiency |
| GARD:17710 |
Combined immunodeficiency due to OX40 deficiency |
| GARD:22392 |
Combined immunodeficiency due to RELA haploinsufficiency |
| GARD:10523 |
Combined immunodeficiency due to STIM1 deficiency |
| GARD:17430 |
Combined immunodeficiency due to STK4 deficiency |
| GARD:17849 |
Combined immunodeficiency due to TFRC deficiency |
| GARD:387 |
Combined immunodeficiency due to ZAP70 deficiency |
| GARD:13712 |
Combined immunodeficiency due to partial RAG1 deficiency |
| GARD:17139 |
Combined immunodeficiency with faciooculoskeletal anomalies |
| GARD:13587 |
Combined immunodeficiency with granulomatosis |
| GARD:17731 |
Combined immunodeficiency-enteropathy spectrum |
| GARD:10818 |
Combined malonic and methylmalonic acidemia |
| GARD:18316 |
Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 |
| GARD:18317 |
Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 |
| GARD:17487 |
Combined oxidative phosphorylation defect type 11 |
| GARD:17454 |
Combined oxidative phosphorylation defect type 13 |
| GARD:17455 |
Combined oxidative phosphorylation defect type 14 |
| GARD:17456 |
Combined oxidative phosphorylation defect type 15 |
| GARD:17589 |
Combined oxidative phosphorylation defect type 17 |
| GARD:17232 |
Combined oxidative phosphorylation defect type 2 |
| GARD:17699 |
Combined oxidative phosphorylation defect type 20 |
| GARD:17700 |
Combined oxidative phosphorylation defect type 21 |
| GARD:17759 |
Combined oxidative phosphorylation defect type 23 |
| GARD:17765 |
Combined oxidative phosphorylation defect type 24 |
| GARD:17775 |
Combined oxidative phosphorylation defect type 25 |
| GARD:17854 |
Combined oxidative phosphorylation defect type 26 |
| GARD:17856 |
Combined oxidative phosphorylation defect type 27 |
| GARD:17863 |
Combined oxidative phosphorylation defect type 29 |
| GARD:17864 |
Combined oxidative phosphorylation defect type 30 |
| GARD:17999 |
Combined oxidative phosphorylation defect type 39 |
| GARD:17233 |
Combined oxidative phosphorylation defect type 4 |
| GARD:17234 |
Combined oxidative phosphorylation defect type 7 |
| GARD:17452 |
Combined oxidative phosphorylation defect type 8 |
| GARD:17453 |
Combined oxidative phosphorylation defect type 9 |
| GARD:18466 |
Combined oxidative phosphorylation deficiency 19 |
| GARD:17403 |
Combined pancreatic lipase-colipase deficiency |
| GARD:10602 |
Combined pituitary hormone deficiencies, genetic forms |
| GARD:21238 |
Combined pulmonary fibrosis-emphysema syndrome |
| GARD:19939 |
Commissural lip fistula |
| GARD:21915 |
Common cystic lymphatic malformation |
| GARD:6140 |
Common variable immunodeficiency |
| GARD:21092 |
Communicating congenital bronchopulmonary-foregut malformation |
| GARD:1452 |
Complement component 2 deficiency |
| GARD:16489 |
Complement component 3 deficiency |
| GARD:15798 |
Complement component 4a deficiency |
| GARD:15797 |
Complement component 4b deficiency |
| GARD:2191 |
Complement component 5 deficiency |
| GARD:18291 |
Complement component 6 deficiency |
| GARD:18290 |
Complement component 7 deficiency |
| GARD:10626 |
Complement component 8 deficiency, type i |
| GARD:10625 |
Complement component 8 deficiency, type ii |
| GARD:18292 |
Complement component 9 deficiency |
| GARD:15155 |
Complement component c1r/c1s deficiency |
| GARD:15707 |
Complement component c1s deficiency |
| GARD:18551 |
Complement factor h deficiency |
| GARD:15003 |
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
| GARD:10597 |
Complete androgen insensitivity syndrome |
| GARD:1454 |
Complete atrioventricular septal defect |
| GARD:16893 |
Complete atrioventricular septal defect with ventricular hypoplasia |
| GARD:22322 |
Complete atrioventricular septal defect without ventricular hypoplasia |
| GARD:16894 |
Complete atrioventricular septal defect-tetralogy of Fallot |
| GARD:16876 |
Complete cryptophthalmia |
| GARD:22033 |
Complete hemimelia |
| GARD:17224 |
Complete hydatidiform mole |
| GARD:20181 |
Complete septate uterus |
| GARD:20906 |
Complex chromosomal rearrangement |
| GARD:19823 |
Complex hereditary spastic paraplegia |
| GARD:17807 |
Complex lethal osteochondrodysplasia |
| GARD:4647 |
Complex regional pain syndrome |
| GARD:16928 |
Complex regional pain syndrome type 1 |
| GARD:19727 |
Complex regional pain syndrome type 2 |
| GARD:20465 |
Complex vascular malformation with associated anomalies |
| GARD:21259 |
Complication after organ transplantation |
| GARD:20948 |
Complication in hemodialysis |
| GARD:19107 |
Complications after hematopoietic stem cell transplantation |
| GARD:21907 |
Composite hemangioendothelioma |
| GARD:20109 |
Composite lymphoma |
| GARD:1460 |
Conductive deafness-malformed external ear syndrome |
| GARD:305 |
Conductive deafness-ptosis-skeletal anomalies syndrome |
| GARD:15342 |
Cone dystrophy 3 |
| GARD:16449 |
Cone dystrophy 4 |
| GARD:10649 |
Cone dystrophy with supernormal rod response |
| GARD:10119 |
Cone dystrophy, x-linked, with tapetal-like sheen |
| GARD:10790 |
Cone rod dystrophy |
| GARD:10651 |
Cone-rod dystrophy 1 |
| GARD:15477 |
Cone-rod dystrophy 10 |
| GARD:15484 |
Cone-rod dystrophy 11 |
| GARD:15577 |
Cone-rod dystrophy 12 |
| GARD:15426 |
Cone-rod dystrophy 13 |
| GARD:15686 |
Cone-rod dystrophy 15 |
| GARD:15812 |
Cone-rod dystrophy 16 |
| GARD:15914 |
Cone-rod dystrophy 17 |
| GARD:15953 |
Cone-rod dystrophy 18 |
| GARD:16022 |
Cone-rod dystrophy 19 |
| GARD:6145 |
Cone-rod dystrophy 2 |
| GARD:16036 |
Cone-rod dystrophy 20 |
| GARD:16125 |
Cone-rod dystrophy 21 |
| GARD:10653 |
Cone-rod dystrophy 3 |
| GARD:10655 |
Cone-rod dystrophy 5 |
| GARD:10656 |
Cone-rod dystrophy 6 |
| GARD:15356 |
Cone-rod dystrophy 7 |
| GARD:15381 |
Cone-rod dystrophy 8 |
| GARD:15582 |
Cone-rod dystrophy 9 |
| GARD:10652 |
Cone-rod dystrophy, x-linked, 1 |
| GARD:1462 |
Cone-rod dystrophy, x-linked, 2 |
| GARD:10654 |
Cone-rod dystrophy, x-linked, 3 |
| GARD:15485 |
Cone-rod synaptic disorder, congenital nonprogressive |
| GARD:20544 |
Confetti-like macular atrophy |
| GARD:18903 |
Congenital Epstein-Barr virus infection |
| GARD:19647 |
Congenital Gerbode defect |
| GARD:6670 |
Congenital Horner syndrome |
| GARD:21837 |
Congenital abducens nerve palsy |
| GARD:21194 |
Congenital absence of both forearm and hand |
| GARD:21195 |
Congenital absence of both lower leg and foot |
| GARD:21193 |
Congenital absence of thigh and lower leg with foot present |
| GARD:12123 |
Congenital absence of upper arm and forearm with hand present |
| GARD:377 |
Congenital absence/hypoplasia of fingers excluding thumb, unilateral |
| GARD:21438 |
Congenital achiasma |
| GARD:1467 |
Congenital adrenal hyperplasia |
| GARD:5658 |
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency |
| GARD:1469 |
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency |
| GARD:9152 |
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency |
| GARD:12664 |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| GARD:22011 |
Congenital agenesis of the scrotum |
| GARD:19510 |
Congenital alacrima |
| GARD:731 |
Congenital alpha2-antiplasmin deficiency |
| GARD:8644 |
Congenital alveolar capillary dysplasia |
| GARD:640 |
Congenital amegakaryocytic thrombocytopenia |
| GARD:22002 |
Congenital amyoplasia |
| GARD:13056 |
Congenital analbuminemia |
| GARD:19282 |
Congenital anomaly of hepatic vein |
| GARD:19275 |
Congenital anomaly of superior vena cava |
| GARD:19277 |
Congenital anomaly of the coronary sinus |
| GARD:19556 |
Congenital anomaly of the great arteries |
| GARD:21541 |
Congenital anomaly of the great veins |
| GARD:19276 |
Congenital anomaly of the inferior vena cava |
| GARD:19623 |
Congenital anomaly of the tricuspid valve chordae |
| GARD:19260 |
Congenital aortic valve atresia |
| GARD:19776 |
Congenital aortic valve dysplasia |
| GARD:18786 |
Congenital aortic valve stenosis |
| GARD:738 |
Congenital aortopulmonary window |
| GARD:22453 |
Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome |
| GARD:19560 |
Congenital arteriovenous fistula |
| GARD:9595 |
Congenital atransferrinemia |
| GARD:22274 |
Congenital autosomal recessive small-platelet thrombocytopenia |
| GARD:22218 |
Congenital axonal neuropathy with encephalopathy |
| GARD:5461 |
Congenital bilateral absence of vas deferens |
| GARD:19180 |
Congenital bilateral megacalycosis |
| GARD:21996 |
Congenital bile acid synthesis defect |
| GARD:9813 |
Congenital bile acid synthesis defect type 1 |
| GARD:10045 |
Congenital bile acid synthesis defect type 2 |
| GARD:16713 |
Congenital bile acid synthesis defect type 3 |
| GARD:10046 |
Congenital bile acid synthesis defect type 4 |
| GARD:953 |
Congenital bowing of long bones |
| GARD:22076 |
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome |
| GARD:9848 |
Congenital brain dysgenesis due to glutamine synthetase deficiency |
| GARD:17327 |
Congenital cataract microcornea with corneal opacity |
| GARD:17365 |
Congenital cataract-hearing loss-severe developmental delay syndrome |
| GARD:1142 |
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome |
| GARD:10522 |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |
| GARD:22144 |
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome |
| GARD:16645 |
Congenital cataracts-facial dysmorphism-neuropathy syndrome |
| GARD:8535 |
Congenital central hypoventilation syndrome |
| GARD:22075 |
Congenital cerebellar ataxia due to RNU12 mutation |
| GARD:18706 |
Congenital cervical spinal stenosis |
| GARD:10001 |
Congenital chloride diarrhea |
| GARD:17500 |
Congenital chronic diarrhea with protein-losing enteropathy |
| GARD:10156 |
Congenital chylothorax |
| GARD:20998 |
Congenital communicating hydrocephalus |
| GARD:19666 |
Congenital complete agenesis of pericardium |
| GARD:5899 |
Congenital contractural arachnodactyly |
| GARD:18622 |
Congenital contractures of the limbs and face, hypotonia, and developmental delay |
| GARD:16657 |
Congenital cornea plana |
| GARD:19273 |
Congenital coronary artery aneurysm |
| GARD:10617 |
Congenital cystic eye |
| GARD:17040 |
Congenital deficiency in alpha-fetoprotein |
| GARD:21182 |
Congenital deformities of fingers |
| GARD:21181 |
Congenital deformities of limbs |
| GARD:1481 |
Congenital diaphragmatic hernia |
| GARD:10307 |
Congenital disorder of glycosylation |
| GARD:21607 |
Congenital disorder of glycosylation with cardiac malformation as a major feature |
| GARD:21612 |
Congenital disorder of glycosylation with deafness as a major feature |
| GARD:12782 |
Congenital disorder of glycosylation with developmental anomaly |
| GARD:21606 |
Congenital disorder of glycosylation with dilated cardiomyopathy |
| GARD:21604 |
Congenital disorder of glycosylation with epilepsy as a major feature |
| GARD:21605 |
Congenital disorder of glycosylation with hepatic involvement |
| GARD:21608 |
Congenital disorder of glycosylation with intestinal involvement |
| GARD:21611 |
Congenital disorder of glycosylation with nephropathy as a major feature |
| GARD:21603 |
Congenital disorder of glycosylation with neurological involvement |
| GARD:21610 |
Congenital disorder of glycosylation with skin involvement |
| GARD:21609 |
Congenital disorder of glycosylation-related bone disorder |
| GARD:1999 |
Congenital dyserythropoietic anemia |
| GARD:2000 |
Congenital dyserythropoietic anemia type I |
| GARD:2001 |
Congenital dyserythropoietic anemia type II |
| GARD:2002 |
Congenital dyserythropoietic anemia type III |
| GARD:17344 |
Congenital dyserythropoietic anemia type IV |
| GARD:19502 |
Congenital ectropion |
| GARD:19169 |
Congenital ectropion uveae |
| GARD:21224 |
Congenital elbow dislocation, bilateral |
| GARD:21223 |
Congenital elbow dislocation, unilateral |
| GARD:19839 |
Congenital enterocyte heparan sulfate deficiency |
| GARD:17038 |
Congenital enteropathy due to enteropeptidase deficiency |
| GARD:19845 |
Congenital enteropathy involving intestinal mucosa development |
| GARD:2130 |
Congenital enterovirus infection |
| GARD:20016 |
Congenital epulis |
| GARD:20619 |
Congenital erosive and vesicular dermatosis |
| GARD:4446 |
Congenital erythropoietic porphyria |
| GARD:19165 |
Congenital esophageal diverticulum |
| GARD:19675 |
Congenital eyelid retraction |
| GARD:2926 |
Congenital factor II deficiency |
| GARD:2237 |
Congenital factor V deficiency |
| GARD:2238 |
Congenital factor VII deficiency |
| GARD:6404 |
Congenital factor X deficiency |
| GARD:9670 |
Congenital factor XI deficiency |
| GARD:6558 |
Congenital factor XII deficiency |
| GARD:10766 |
Congenital factor XIII deficiency |
| GARD:6161 |
Congenital fiber-type disproportion myopathy |
| GARD:2320 |
Congenital fibrinogen deficiency |
| GARD:12590 |
Congenital fibrosis of extraocular muscles |
| GARD:21956 |
Congenital generalized hypercontractile muscle stiffness syndrome |
| GARD:8206 |
Congenital generalized hypertrichosis, Ambras type |
| GARD:13388 |
Congenital generalized lipodystrophy |
| GARD:21226 |
Congenital genu flexum |
| GARD:21225 |
Congenital genu recurvatum |
| GARD:2485 |
Congenital glaucoma |
| GARD:6164 |
Congenital heart block |
| GARD:4905 |
Congenital heart defect-round face-developmental delay syndrome |
| GARD:21910 |
Congenital hemangioma |
| GARD:19610 |
Congenital hereditary endothelial dystrophy type I |
| GARD:6196 |
Congenital hereditary endothelial dystrophy type II |
| GARD:17379 |
Congenital hereditary facial paralysis-variable hearing loss syndrome |
| GARD:18687 |
Congenital herpes simplex virus infection |
| GARD:2684 |
Congenital high-molecular-weight kininogen deficiency |
| GARD:6682 |
Congenital hydrocephalus |
| GARD:20135 |
Congenital hypogonadotropic hypogonadism |
| GARD:21198 |
Congenital hypoplasia of thumb |
| GARD:1487 |
Congenital hypothyroidism |
| GARD:19295 |
Congenital hypothyroidism due to developmental anomaly |
| GARD:20563 |
Congenital hypothyroidism due to maternal intake of antithyroid drugs |
| GARD:19297 |
Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies |
| GARD:17515 |
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |
| GARD:1489 |
Congenital ichthyosis-microcephalus-tetraplegia syndrome |
| GARD:22333 |
Congenital infiltrating lipomatosis of the face |
| GARD:21890 |
Congenital insensitivity to pain with severe intellectual disability |
| GARD:12267 |
Congenital insensitivity to pain-anosmia-neuropathic arthropathy |
| GARD:20514 |
Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation |
| GARD:19844 |
Congenital intestinal disease due to an enzymatic defect |
| GARD:19841 |
Congenital intestinal transport defect |
| GARD:12426 |
Congenital intrauterine infection-like syndrome |
| GARD:3024 |
Congenital intrinsic factor deficiency |
| GARD:5727 |
Congenital isolated ACTH deficiency |
| GARD:3947 |
Congenital isolated hyperinsulinism |
| GARD:21184 |
Congenital joint dislocations |
| GARD:21211 |
Congenital knee dislocation |
| GARD:22010 |
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome |
| GARD:12311 |
Congenital lactase deficiency |
| GARD:8370 |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| GARD:19953 |
Congenital laryngeal cyst |
| GARD:12713 |
Congenital laryngeal palsy |
| GARD:16596 |
Congenital laryngeal web |
| GARD:6865 |
Congenital laryngomalacia |
| GARD:2305 |
Congenital left ventricular aneurysm |
| GARD:2192 |
Congenital lethal erythroderma |
| GARD:17111 |
Congenital lethal myopathy, Compton-North type |
| GARD:18886 |
Congenital limb malformation |
| GARD:16075 |
Congenital limbs-face contractures-hypotonia-developmental delay syndrome |
| GARD:1465 |
Congenital lipoid adrenal hyperplasia due to STAR deficency |
| GARD:2104 |
Congenital lobar emphysema |
| GARD:16599 |
Congenital macroglossia |
| GARD:19522 |
Congenital malformation of the eye with glaucoma as a major feature |
| GARD:19496 |
Congenital malformation of the eyelid |
| GARD:19174 |
Congenital megacalycosis |
| GARD:18896 |
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization |
| GARD:1493 |
Congenital mesoblastic nephroma |
| GARD:17617 |
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome |
| GARD:3635 |
Congenital microcoria |
| GARD:20330 |
Congenital microgastria |
| GARD:1495 |
Congenital mitral malformation |
| GARD:1496 |
Congenital mitral stenosis |
| GARD:19266 |
Congenital mitral valve insufficiency and/or stenosis |
| GARD:10316 |
Congenital multicore myopathy with external ophthalmoplegia |
| GARD:12588 |
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies |
| GARD:9138 |
Congenital muscular dystrophy |
| GARD:12585 |
Congenital muscular dystrophy due to LMNA mutation |
| GARD:12584 |
Congenital muscular dystrophy due to dystroglycanopathy |
| GARD:12586 |
Congenital muscular dystrophy type 1B |
| GARD:17605 |
Congenital muscular dystrophy with cerebellar involvement |
| GARD:21600 |
Congenital muscular dystrophy with hyperlaxity |
| GARD:12587 |
Congenital muscular dystrophy with integrin alpha-7 deficiency |
| GARD:17606 |
Congenital muscular dystrophy with intellectual disability |
| GARD:12416 |
Congenital muscular dystrophy with intellectual disability and severe epilepsy |
| GARD:17607 |
Congenital muscular dystrophy without intellectual disability |
| GARD:6475 |
Congenital muscular dystrophy, Fukuyama type |
| GARD:4769 |
Congenital muscular dystrophy, Ullrich type |
| GARD:835 |
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome |
| GARD:17883 |
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome |
| GARD:11902 |
Congenital myasthenic syndrome |
| GARD:17539 |
Congenital myasthenic syndromes with glycosylation defect |
| GARD:5898 |
Congenital myopathy |
| GARD:20134 |
Congenital myopathy with cores |
| GARD:16869 |
Congenital myopathy with excess of thin filaments |
| GARD:17443 |
Congenital myopathy with internal nuclei and atypical cores |
| GARD:21783 |
Congenital myopathy with myasthenic-like onset |
| GARD:17989 |
Congenital myopathy with reduced type 2 muscle fibers |
| GARD:20335 |
Congenital myopathy, Paradas type |
| GARD:20373 |
Congenital myotonia |
| GARD:21901 |
Congenital nemaline myopathy |
| GARD:1500 |
Congenital nephrotic syndrome, Finnish type |
| GARD:17031 |
Congenital neuronal ceroid lipofuscinosis |
| GARD:17585 |
Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| GARD:9736 |
Congenital non-bullous ichthyosiform erythroderma |
| GARD:17272 |
Congenital non-communicating hydrocephalus |
| GARD:21836 |
Congenital oculomotor nerve palsy |
| GARD:22112 |
Congenital optic disc excavation |
| GARD:22154 |
Congenital optic disc excavation of genetic origin |
| GARD:16978 |
Congenital or early infantile CACH syndrome |
| GARD:4139 |
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome |
| GARD:21361 |
Congenital pancreatic cyst |
| GARD:19912 |
Congenital panfollicular nevus |
| GARD:19667 |
Congenital partial agenesis of pericardium |
| GARD:19665 |
Congenital partial pulmonary venous return anomaly |
| GARD:9692 |
Congenital patella dislocation |
| GARD:19634 |
Congenital patent ductus arteriosus aneurysm |
| GARD:18779 |
Congenital pericardium anomaly |
| GARD:4381 |
Congenital plasminogen activator inhibitor type 1 deficiency |
| GARD:21979 |
Congenital portosystemic shunt |
| GARD:4477 |
Congenital prekallikrein deficiency |
| GARD:9952 |
Congenital primary aphakia |
| GARD:22307 |
Congenital primary lymphedema of Gordon |
| GARD:18769 |
Congenital primary lymphedema without systemic or visceral involvement |
| GARD:18700 |
Congenital primary megaureter |
| GARD:20642 |
Congenital primary megaureter, nonrefluxing and unobstructed form |
| GARD:20640 |
Congenital primary megaureter, obstructed form |
| GARD:22236 |
Congenital primary megaureter, refluxing and obstructed form |
| GARD:20641 |
Congenital primary megaureter, refluxing form |
| GARD:22071 |
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome |
| GARD:16673 |
Congenital pseudoarthrosis of the clavicle |
| GARD:21204 |
Congenital pseudoarthrosis of the femur |
| GARD:21205 |
Congenital pseudoarthrosis of the fibula |
| GARD:20015 |
Congenital pseudoarthrosis of the limbs |
| GARD:21206 |
Congenital pseudoarthrosis of the radius |
| GARD:21203 |
Congenital pseudoarthrosis of the tibia |
| GARD:21207 |
Congenital pseudoarthrosis of the ulna |
| GARD:16798 |
Congenital ptosis |
| GARD:18772 |
Congenital pulmonary airway malformation |
| GARD:21093 |
Congenital pulmonary airway malformation type 0 |
| GARD:21094 |
Congenital pulmonary airway malformation type 1 |
| GARD:21095 |
Congenital pulmonary airway malformation type 2 |
| GARD:21096 |
Congenital pulmonary airway malformation type 3 |
| GARD:21097 |
Congenital pulmonary airway malformation type 4 |
| GARD:9900 |
Congenital pulmonary lymphangiectasia |
| GARD:4593 |
Congenital pulmonary sequestration |
| GARD:16623 |
Congenital pulmonary valvar stenosis |
| GARD:19559 |
Congenital pulmonary veins anomaly |
| GARD:4598 |
Congenital pulmonary veins atresia or stenosis |
| GARD:4599 |
Congenital pulmonary venous return anomaly |
| GARD:10876 |
Congenital radioulnar synostosis |
| GARD:19381 |
Congenital renal artery stenosis |
| GARD:1475 |
Congenital respiratory-biliary fistula |
| GARD:17305 |
Congenital reticular ichthyosiform erythroderma |
| GARD:21530 |
Congenital retinal arteriovenous communication |
| GARD:4744 |
Congenital rubella syndrome |
| GARD:20635 |
Congenital secondary polycythemia |
| GARD:16592 |
Congenital short bowel syndrome |
| GARD:18585 |
Congenital short bowel syndrome |
| GARD:19184 |
Congenital sialidosis type 2 |
| GARD:17586 |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| GARD:20902 |
Congenital smooth muscle hamartoma |
| GARD:16945 |
Congenital sodium diarrhea |
| GARD:3995 |
Congenital stationary night blindness |
| GARD:19663 |
Congenital stenosis of the inferior vena cava |
| GARD:16943 |
Congenital stromal corneal dystrophy |
| GARD:19952 |
Congenital subglottic stenosis |
| GARD:7710 |
Congenital sucrase-isomaltase deficiency |
| GARD:19626 |
Congenital supravalvular mitral ring |
| GARD:19606 |
Congenital symblepharon |
| GARD:22036 |
Congenital syphilis |
| GARD:18758 |
Congenital systemic arteriovenous fistula |
| GARD:18785 |
Congenital systemic veins anomaly |
| GARD:20450 |
Congenital temporomandibular joint ankylosis |
| GARD:9430 |
Congenital thrombotic thrombocytopenic purpura |
| GARD:19299 |
Congenital thyroid malformation without hypothyroidism |
| GARD:16896 |
Congenital total pulmonary venous return anomaly |
| GARD:18708 |
Congenital toxoplasmosis |
| GARD:12008 |
Congenital tracheal stenosis |
| GARD:10515 |
Congenital tracheomalacia |
| GARD:19555 |
Congenital tricuspid malformation |
| GARD:19262 |
Congenital tricuspid stenosis |
| GARD:22241 |
Congenital tricuspid valve dysplasia |
| GARD:10034 |
Congenital trigeminal anesthesia |
| GARD:19545 |
Congenital trochlear nerve palsy |
| GARD:10630 |
Congenital tufting enteropathy |
| GARD:19627 |
Congenital unguarded mitral orifice |
| GARD:16557 |
Congenital unilateral hypoplasia of depressor anguli oris |
| GARD:21814 |
Congenital urachal anomaly |
| GARD:45 |
Congenital varicella syndrome |
| GARD:20629 |
Congenital vascular bone syndrome |
| GARD:5470 |
Congenital velopharyngeal incompetence |
| GARD:17961 |
Congenital vertebral-cardiac-renal anomalies syndrome |
| GARD:5488 |
Congenital vertical talus |
| GARD:21218 |
Congenital vertical talus, bilateral |
| GARD:21217 |
Congenital vertical talus, unilateral |
| GARD:20121 |
Congenital vitamin K-dependent coagulation factors deficiency |
| GARD:22361 |
Congenital-onset Steinert myotonic dystrophy |
| GARD:1544 |
Congenitally corrected transposition of the great arteries |
| GARD:1551 |
Congenitally short costocoracoid ligament |
| GARD:5476 |
Congenitally uncorrected transposition of the great arteries |
| GARD:20503 |
Congenitally uncorrected transposition of the great arteries with cardiac malformation |
| GARD:19614 |
Congenitally uncorrected transposition of the great arteries with coarctation |
| GARD:10744 |
Conjunctival malignant melanoma |
| GARD:17362 |
Connective tissue disorder due to lysyl hydroxylase-3 deficiency |
| GARD:21750 |
Cono-spondylar dysplasia |
| GARD:8189 |
Conotruncal heart malformations |
| GARD:19452 |
Constitutional anemia due to iron metabolism disorder |
| GARD:20669 |
Constitutional deficiency anemia |
| GARD:21172 |
Constitutional dyserythropoietic anemia |
| GARD:19457 |
Constitutional hemolytic anemia due to acanthocytosis |
| GARD:19463 |
Constitutional megaloblastic anemia due to folate metabolism disorder |
| GARD:19462 |
Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder |
| GARD:11000 |
Constitutional megaloblastic anemia with severe neurologic disease |
| GARD:17217 |
Constitutional mismatch repair deficiency syndrome |
| GARD:19809 |
Constitutional neutropenia |
| GARD:21508 |
Constitutional neutropenia with extra-hematopoietic manifestations |
| GARD:19453 |
Constitutional sideroblastic anemia |
| GARD:429 |
Constriction rings syndrome |
| GARD:1513 |
Continuous spikes and waves during sleep |
| GARD:21816 |
Contractures-developmental delay-Pierre Robin syndrome |
| GARD:1515 |
Contractures-ectodermal dysplasia-cleft lip/palate syndrome |
| GARD:21364 |
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome |
| GARD:4083 |
Cooks syndrome |
| GARD:16567 |
Cooper-Jabs syndrome |
| GARD:12483 |
Cor triatriatum dexter |
| GARD:12484 |
Cor triatriatum sinister |
| GARD:16886 |
Coralliform cataract |
| GARD:18049 |
Cornea plana 1, autosomal dominant |
| GARD:18050 |
Cornea plana 2, autosomal recessive |
| GARD:18810 |
Corneal dystrophy |
| GARD:18216 |
Corneal dystrophy, fuchs endothelial, 1 |
| GARD:18217 |
Corneal dystrophy, fuchs endothelial, 2 |
| GARD:18218 |
Corneal dystrophy, fuchs endothelial, 3 |
| GARD:18219 |
Corneal dystrophy, fuchs endothelial, 4 |
| GARD:18220 |
Corneal dystrophy, fuchs endothelial, 5 |
| GARD:18221 |
Corneal dystrophy, fuchs endothelial, 6 |
| GARD:18222 |
Corneal dystrophy, fuchs endothelial, 7 |
| GARD:18223 |
Corneal dystrophy, fuchs endothelial, 8 |
| GARD:10320 |
Corneal dystrophy, lattice type iiia |
| GARD:18212 |
Corneal dystrophy, posterior polymorphous, 1 |
| GARD:18213 |
Corneal dystrophy, posterior polymorphous, 2 |
| GARD:18214 |
Corneal dystrophy, posterior polymorphous, 3 |
| GARD:18215 |
Corneal dystrophy, posterior polymorphous, 4 |
| GARD:1529 |
Corneal dystrophy-perceptive deafness syndrome |
| GARD:19880 |
Corneal endotheliitis |
| GARD:17525 |
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome |
| GARD:10109 |
Cornelia de Lange syndrome |
| GARD:15259 |
Cornelia de lange syndrome 2 |
| GARD:15499 |
Cornelia de lange syndrome 3 with or without midline brain defects |
| GARD:15837 |
Cornelia de lange syndrome 4 with or without midline brain defects |
| GARD:15271 |
Cornelia de lange syndrome 5 |
| GARD:1531 |
Corneodermatoosseous syndrome |
| GARD:19523 |
Corneodysgenesis |
| GARD:1533 |
Coronary arterial fistula |
| GARD:1534 |
Coronary artery congenital malformation |
| GARD:19643 |
Coronary ostial stenosis or atresia |
| GARD:19659 |
Coronary sinus atresia |
| GARD:19658 |
Coronary sinus stenosis |
| GARD:4528 |
Corpus callosum agenesis-abnormal genitalia syndrome |
| GARD:12486 |
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |
| GARD:21918 |
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome |
| GARD:1537 |
Corpus callosum agenesis-neuronopathy syndrome |
| GARD:1548 |
Cortical blindness-intellectual disability-polydactyly syndrome |
| GARD:13032 |
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation |
| GARD:13168 |
Corticobasal syndrome |
| GARD:13101 |
Corticosteroid-binding globulin deficiency |
| GARD:10946 |
Corticosteroid-sensitive aseptic abscess syndrome |
| GARD:15375 |
Cortisone reductase deficiency 1 |
| GARD:15830 |
Cortisone reductase deficiency 2 |
| GARD:1550 |
Costello syndrome |
| GARD:6202 |
Cowden syndrome |
| GARD:16450 |
Cowden syndrome 1 |
| GARD:16463 |
Cowden syndrome 4 |
| GARD:16464 |
Cowden syndrome 5 |
| GARD:16465 |
Cowden syndrome 6 |
| GARD:16470 |
Cowden syndrome 7 |
| GARD:1558 |
Coxoauricular syndrome |
| GARD:3030 |
Coxopodopatellar syndrome |
| GARD:6205 |
Cramp-fasciculation syndrome |
| GARD:1561 |
Crandall syndrome |
| GARD:8428 |
Crane-Heise syndrome |
| GARD:19390 |
Cranial malformation |
| GARD:20968 |
Cranial meningocele |
| GARD:19482 |
Cranial nerve and nuclear aplasia |
| GARD:20542 |
Cranial neuralgia |
| GARD:17693 |
Cranio-cervical dystonia with laryngeal and upper-limb involvement |
| GARD:1564 |
Cranio-osteoarthropathy |
| GARD:15156 |
Craniodiaphyseal dysplasia |
| GARD:1567 |
Craniodiaphyseal dysplasia |
| GARD:249 |
Craniodiaphyseal dysplasia, autosomal dominant |
| GARD:4776 |
Craniodigital-intellectual disability syndrome |
| GARD:359 |
Cranioectodermal dysplasia |
| GARD:15680 |
Cranioectodermal dysplasia 2 |
| GARD:15757 |
Cranioectodermal dysplasia 3 |
| GARD:15796 |
Cranioectodermal dysplasia 4 |
| GARD:19533 |
Craniofacial anomaly with cataract |
| GARD:19049 |
Craniofacial conodysplasia |
| GARD:17814 |
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome |
| GARD:1571 |
Craniofacial-deafness-hand syndrome |
| GARD:17571 |
Craniofaciofrontodigital syndrome |
| GARD:1578 |
Craniofrontonasal dysplasia |
| GARD:428 |
Craniofrontonasal dysplasia-Poland anomaly syndrome |
| GARD:16647 |
Craniolenticulosutural dysplasia |
| GARD:16737 |
Craniometadiaphyseal dysplasia, wormian bone type |
| GARD:15013 |
Craniometaphyseal dysplasia |
| GARD:1581 |
Craniometaphyseal dysplasia, autosomal dominant |
| GARD:1582 |
Craniometaphyseal dysplasia, autosomal recessive |
| GARD:1583 |
Craniomicromelic syndrome |
| GARD:10486 |
Craniopharyngioma |
| GARD:10504 |
Craniorachischisis |
| GARD:16984 |
Craniorhiny |
| GARD:19543 |
Craniostenosis with strabismus |
| GARD:6209 |
Craniosynostosis |
| GARD:18045 |
Craniosynostosis 1 |
| GARD:18047 |
Craniosynostosis 3 |
| GARD:18046 |
Craniosynostosis 5, susceptibility to |
| GARD:18048 |
Craniosynostosis 6 |
| GARD:5538 |
Craniosynostosis, Boston type |
| GARD:18762 |
Craniosynostosis, Herrmann-Opitz type |
| GARD:1601 |
Craniosynostosis, Philadelphia type |
| GARD:998 |
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome |
| GARD:9506 |
Craniosynostosis-anal anomalies-porokeratosis syndrome |
| GARD:17309 |
Craniosynostosis-dental anomalies |
| GARD:20127 |
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome |
| GARD:16653 |
Craniosynostosis-intracranial calcifications syndrome |
| GARD:18001 |
Craniosynostosis-microretrognathia-severe intellectual disability syndrome |
| GARD:1605 |
Craniotelencephalic dysplasia |
| GARD:18952 |
Creatine deficiency syndrome |
| GARD:16919 |
Cree leukoencephalopathy |
| GARD:1609 |
Creeping myiasis |
| GARD:16526 |
Crigler-Najjar syndrome |
| GARD:47 |
Crigler-Najjar syndrome type 1 |
| GARD:8683 |
Crigler-Najjar syndrome type 2 |
| GARD:19690 |
Crimean-Congo hemorrhagic fever |
| GARD:1611 |
Crisponi syndrome |
| GARD:18277 |
Crisponi/cold-induced sweating syndrome 2 |
| GARD:18724 |
Criss-cross heart |
| GARD:4427 |
Cronkhite-Canada syndrome |
| GARD:1617 |
Crossed polysyndactyly |
| GARD:6206 |
Crouzon syndrome |
| GARD:16810 |
Crouzon syndrome-acanthosis nigricans syndrome |
| GARD:6386 |
Cryoglobulinemic vasculitis |
| GARD:10927 |
Cryopyrin-associated periodic syndrome |
| GARD:6218 |
Cryptococcosis |
| GARD:20050 |
Cryptogenic late-onset epileptic spasms |
| GARD:21945 |
Cryptogenic multifocal ulcerous stenosing enteritis |
| GARD:1620 |
Cryptogenic organizing pneumonia |
| GARD:8174 |
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome |
| GARD:10505 |
Cryptophthalmia |
| GARD:860 |
Cryptorchidism-arachnodactyly-intellectual disability syndrome |
| GARD:10163 |
Curly hair-acral keratoderma-caries syndrome |
| GARD:1626 |
Currarino syndrome |
| GARD:5584 |
Curry-Jones syndrome |
| GARD:12867 |
Cushing disease |
| GARD:6224 |
Cushing syndrome |
| GARD:19698 |
Cushing syndrome due to ectopic ACTH secretion |
| GARD:10824 |
Cushing syndrome due to macronodular adrenal hyperplasia |
| GARD:12428 |
Cutaneous collagenous vasculopathy |
| GARD:1629 |
Cutaneous larva migrans |
| GARD:12687 |
Cutaneous mastocytoma |
| GARD:7842 |
Cutaneous mastocytosis |
| GARD:19723 |
Cutaneous myiasis |
| GARD:9266 |
Cutaneous neuroendocrine carcinoma |
| GARD:1633 |
Cutaneous photosensitivity-lethal colitis syndrome |
| GARD:7415 |
Cutaneous polyarteritis nodosa |
| GARD:21889 |
Cutaneous pseudolymphoma |
| GARD:7851 |
Cutaneous small vessel vasculitis |
| GARD:332 |
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome |
| GARD:6227 |
Cutis laxa |
| GARD:17140 |
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies |
| GARD:15055 |
Cutis laxa, autosomal dominant 1 |
| GARD:15802 |
Cutis laxa, autosomal dominant 2 |
| GARD:16143 |
Cutis laxa, autosomal dominant 3 |
| GARD:15157 |
Cutis laxa, autosomal recessive, type ia |
| GARD:15804 |
Cutis laxa, autosomal recessive, type ib |
| GARD:17069 |
Cutis laxa-Marfanoid syndrome |
| GARD:6228 |
Cutis marmorata telangiectatica congenita |
| GARD:21938 |
Cyanide poisoning |
| GARD:21266 |
Cyanide-induced parkinsonism-dystonia |
| GARD:6229 |
Cyclic neutropenia |
| GARD:9528 |
Cyclosporosis |
| GARD:11906 |
Cylindrical spirals myopathy |
| GARD:9487 |
Cyprus facial-neuromusculoskeletal syndrome |
| GARD:20346 |
Cystadenoma of childhood |
| GARD:2428 |
Cystathioninuria |
| GARD:2764 |
Cystic echinococcosis |
| GARD:6233 |
Cystic fibrosis |
| GARD:3303 |
Cystic fibrosis-gastritis-megaloblastic anemia syndrome |
| GARD:2557 |
Cystic hamartoma of lung and kidney |
| GARD:13199 |
Cystic leukoencephalopathy without megalencephaly |
| GARD:8194 |
Cysticercosis |
| GARD:6236 |
Cystinosis |
| GARD:6237 |
Cystinuria |
| GARD:16827 |
Cystinuria type A |
| GARD:16828 |
Cystinuria type B |
| GARD:16694 |
Cystoid macular dystrophy |
| GARD:19973 |
Cysts and fistulae of the face and oral cavity |
| GARD:19884 |
Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk |
| GARD:19249 |
Cytophagic histiocytic panniculitis |
| GARD:17857 |
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder |
| GARD:4969 |
Czeizel-Losonci syndrome |
| GARD:17540 |
D,L-2-hydroxyglutaric aciduria |
| GARD:5661 |
D-2-hydroxyglutaric aciduria |
| GARD:15685 |
D-2-hydroxyglutaric aciduria 2 |
| GARD:234 |
D-glyceric aciduria |
| GARD:12398 |
DDOST-CDG |
| GARD:17899 |
DDX41-related hematologic malignancy predisposition syndrome |
| GARD:16701 |
DEND syndrome |
| GARD:17904 |
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome |
| GARD:17679 |
DITRA |
| GARD:12393 |
DK1-CDG |
| GARD:20114 |
DNA repair defect other than combined T-cell and B-cell immunodeficiencies |
| GARD:17518 |
DNA2-related mitochondrial DNA deletion syndrome |
| GARD:18653 |
DNAJB2-related Charcot-Marie-Tooth disease type 2 |
| GARD:12528 |
DNAJB6-related limb-girdle muscular dystrophy D1 |
| GARD:17509 |
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect |
| GARD:12653 |
DOCK2 deficiency |
| GARD:22314 |
DONSON-related microcephaly-short stature-limb abnormalities spectrum |
| GARD:1685 |
DOORS syndrome |
| GARD:9837 |
DPAGT1-CDG |
| GARD:9831 |
DPM1-CDG |
| GARD:12395 |
DPM3-CDG |
| GARD:13519 |
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy |
| GARD:13527 |
DYRK1A-related intellectual disability syndrome |
| GARD:20947 |
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
| GARD:351 |
Dacryocystitis-osteopoikilosis syndrome |
| GARD:237 |
Dahlberg-Borer-Newcomer syndrome |
| GARD:1669 |
Dandy-Walker malformation-postaxial polydactyly syndrome |
| GARD:6243 |
Darier disease |
| GARD:49 |
De Barsy syndrome |
| GARD:20651 |
De novo thrombotic microangiopathy after kidney transplantation |
| GARD:5535 |
Deaf blind hypopigmentation syndrome, Yemenite type |
| GARD:10707 |
Deafness with labyrinthine aplasia, microtia, and microdontia |
| GARD:18161 |
Deafness, aminoglycoside-induced |
| GARD:18103 |
Deafness, autosomal dominant 10 |
| GARD:18104 |
Deafness, autosomal dominant 11 |
| GARD:18107 |
Deafness, autosomal dominant 12 |
| GARD:18108 |
Deafness, autosomal dominant 13 |
| GARD:18109 |
Deafness, autosomal dominant 15 |
| GARD:18110 |
Deafness, autosomal dominant 16 |
| GARD:9726 |
Deafness, autosomal dominant 17 |
| GARD:18113 |
Deafness, autosomal dominant 18 |
| GARD:18111 |
Deafness, autosomal dominant 20 |
| GARD:18116 |
Deafness, autosomal dominant 21 |
| GARD:9167 |
Deafness, autosomal dominant 22 |
| GARD:1708 |
Deafness, autosomal dominant 23 |
| GARD:9166 |
Deafness, autosomal dominant 24 |
| GARD:18112 |
Deafness, autosomal dominant 25 |
| GARD:18128 |
Deafness, autosomal dominant 27 |
| GARD:18124 |
Deafness, autosomal dominant 28 |
| GARD:18099 |
Deafness, autosomal dominant 2a |
| GARD:18131 |
Deafness, autosomal dominant 2b |
| GARD:18114 |
Deafness, autosomal dominant 30 |
| GARD:18125 |
Deafness, autosomal dominant 31 |
| GARD:18135 |
Deafness, autosomal dominant 33 |
| GARD:18115 |
Deafness, autosomal dominant 36 |
| GARD:15383 |
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 |
| GARD:9933 |
Deafness, autosomal dominant 3a |
| GARD:18130 |
Deafness, autosomal dominant 3b |
| GARD:18142 |
Deafness, autosomal dominant 40 |
| GARD:18121 |
Deafness, autosomal dominant 41 |
| GARD:18123 |
Deafness, autosomal dominant 43 |
| GARD:18118 |
Deafness, autosomal dominant 44 |
| GARD:18126 |
Deafness, autosomal dominant 47 |
| GARD:18120 |
Deafness, autosomal dominant 48 |
| GARD:18122 |
Deafness, autosomal dominant 49 |
| GARD:18100 |
Deafness, autosomal dominant 4a |
| GARD:18136 |
Deafness, autosomal dominant 4b |
| GARD:18102 |
Deafness, autosomal dominant 5 |
| GARD:18132 |
Deafness, autosomal dominant 50 |
| GARD:18133 |
Deafness, autosomal dominant 51 |
| GARD:18119 |
Deafness, autosomal dominant 52 |
| GARD:9934 |
Deafness, autosomal dominant 53 |
| GARD:18138 |
Deafness, autosomal dominant 54 |
| GARD:18137 |
Deafness, autosomal dominant 56 |
| GARD:18139 |
Deafness, autosomal dominant 58 |
| GARD:18129 |
Deafness, autosomal dominant 59 |
| GARD:18101 |
Deafness, autosomal dominant 6 |
| GARD:18134 |
Deafness, autosomal dominant 64 |
| GARD:18140 |
Deafness, autosomal dominant 65 |
| GARD:18146 |
Deafness, autosomal dominant 66 |
| GARD:18141 |
Deafness, autosomal dominant 67 |
| GARD:18144 |
Deafness, autosomal dominant 68 |
| GARD:18143 |
Deafness, autosomal dominant 69 |
| GARD:18106 |
Deafness, autosomal dominant 7 |
| GARD:18145 |
Deafness, autosomal dominant 70 |
| GARD:18147 |
Deafness, autosomal dominant 71 |
| GARD:18148 |
Deafness, autosomal dominant 72 |
| GARD:18149 |
Deafness, autosomal dominant 73 |
| GARD:18151 |
Deafness, autosomal dominant 74 |
| GARD:18153 |
Deafness, autosomal dominant 75 |
| GARD:18154 |
Deafness, autosomal dominant 76 |
| GARD:18155 |
Deafness, autosomal dominant 77 |
| GARD:18156 |
Deafness, autosomal dominant 78 |
| GARD:18157 |
Deafness, autosomal dominant 79 |
| GARD:18158 |
Deafness, autosomal dominant 80 |
| GARD:18105 |
Deafness, autosomal dominant 9 |
| GARD:18117 |
Deafness, autosomal recessive |
| GARD:22660 |
Deafness, autosomal recessive 100 |
| GARD:22651 |
Deafness, autosomal recessive 101 |
| GARD:22652 |
Deafness, autosomal recessive 102 |
| GARD:22653 |
Deafness, autosomal recessive 103 |
| GARD:22654 |
Deafness, autosomal recessive 104 |
| GARD:22656 |
Deafness, autosomal recessive 106 |
| GARD:22657 |
Deafness, autosomal recessive 107 |
| GARD:22658 |
Deafness, autosomal recessive 108 |
| GARD:18150 |
Deafness, autosomal recessive 110 |
| GARD:22659 |
Deafness, autosomal recessive 111 |
| GARD:18377 |
Deafness, autosomal recessive 112 |
| GARD:18152 |
Deafness, autosomal recessive 113 |
| GARD:22662 |
Deafness, autosomal recessive 114 |
| GARD:22664 |
Deafness, autosomal recessive 116 |
| GARD:22665 |
Deafness, autosomal recessive 117 |
| GARD:22590 |
Deafness, autosomal recessive 12 |
| GARD:22594 |
Deafness, autosomal recessive 13 |
| GARD:22596 |
Deafness, autosomal recessive 14 |
| GARD:22591 |
Deafness, autosomal recessive 15 |
| GARD:22597 |
Deafness, autosomal recessive 16 |
| GARD:22593 |
Deafness, autosomal recessive 17 |
| GARD:22592 |
Deafness, autosomal recessive 18a |
| GARD:22648 |
Deafness, autosomal recessive 18b |
| GARD:1697 |
Deafness, autosomal recessive 1a |
| GARD:22629 |
Deafness, autosomal recessive 1b |
| GARD:22582 |
Deafness, autosomal recessive 2 |
| GARD:22598 |
Deafness, autosomal recessive 20 |
| GARD:22595 |
Deafness, autosomal recessive 21 |
| GARD:22601 |
Deafness, autosomal recessive 22 |
| GARD:22613 |
Deafness, autosomal recessive 23 |
| GARD:22626 |
Deafness, autosomal recessive 24 |
| GARD:22632 |
Deafness, autosomal recessive 25 |
| GARD:22599 |
Deafness, autosomal recessive 26 |
| GARD:22600 |
Deafness, autosomal recessive 27 |
| GARD:22617 |
Deafness, autosomal recessive 28 |
| GARD:22641 |
Deafness, autosomal recessive 29 |
| GARD:22583 |
Deafness, autosomal recessive 3 |
| GARD:22603 |
Deafness, autosomal recessive 30 |
| GARD:22602 |
Deafness, autosomal recessive 31 |
| GARD:22610 |
Deafness, autosomal recessive 32, with or without immotile sperm |
| GARD:22604 |
Deafness, autosomal recessive 33 |
| GARD:22609 |
Deafness, autosomal recessive 35 |
| GARD:22611 |
Deafness, autosomal recessive 36, with or without vestibular involvement |
| GARD:22605 |
Deafness, autosomal recessive 37 |
| GARD:22606 |
Deafness, autosomal recessive 38 |
| GARD:22608 |
Deafness, autosomal recessive 39 |
| GARD:22584 |
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct |
| GARD:22607 |
Deafness, autosomal recessive 40 |
| GARD:22614 |
Deafness, autosomal recessive 42 |
| GARD:22620 |
Deafness, autosomal recessive 44 |
| GARD:22628 |
Deafness, autosomal recessive 45 |
| GARD:22615 |
Deafness, autosomal recessive 46 |
| GARD:9935 |
Deafness, autosomal recessive 47 |
| GARD:22612 |
Deafness, autosomal recessive 48 |
| GARD:22619 |
Deafness, autosomal recessive 49 |
| GARD:22585 |
Deafness, autosomal recessive 5 |
| GARD:9918 |
Deafness, autosomal recessive 51 |
| GARD:22616 |
Deafness, autosomal recessive 53 |
| GARD:9919 |
Deafness, autosomal recessive 55 |
| GARD:22622 |
Deafness, autosomal recessive 59 |
| GARD:22586 |
Deafness, autosomal recessive 6 |
| GARD:22639 |
Deafness, autosomal recessive 61 |
| GARD:22618 |
Deafness, autosomal recessive 62 |
| GARD:22627 |
Deafness, autosomal recessive 63 |
| GARD:22623 |
Deafness, autosomal recessive 65 |
| GARD:22621 |
Deafness, autosomal recessive 66 |
| GARD:22624 |
Deafness, autosomal recessive 67 |
| GARD:22625 |
Deafness, autosomal recessive 68 |
| GARD:22587 |
Deafness, autosomal recessive 7 |
| GARD:22646 |
Deafness, autosomal recessive 70 |
| GARD:22630 |
Deafness, autosomal recessive 71 |
| GARD:22638 |
Deafness, autosomal recessive 74 |
| GARD:22650 |
Deafness, autosomal recessive 76 |
| GARD:22631 |
Deafness, autosomal recessive 77 |
| GARD:22633 |
Deafness, autosomal recessive 79 |
| GARD:22589 |
Deafness, autosomal recessive 8 |
| GARD:22637 |
Deafness, autosomal recessive 83 |
| GARD:22634 |
Deafness, autosomal recessive 84a |
| GARD:22647 |
Deafness, autosomal recessive 84b |
| GARD:22635 |
Deafness, autosomal recessive 85 |
| GARD:22643 |
Deafness, autosomal recessive 86 |
| GARD:22649 |
Deafness, autosomal recessive 88 |
| GARD:22640 |
Deafness, autosomal recessive 89 |
| GARD:22588 |
Deafness, autosomal recessive 9 |
| GARD:22636 |
Deafness, autosomal recessive 91 |
| GARD:22645 |
Deafness, autosomal recessive 93 |
| GARD:22661 |
Deafness, autosomal recessive 94 |
| GARD:22642 |
Deafness, autosomal recessive 96 |
| GARD:22655 |
Deafness, autosomal recessive 97 |
| GARD:22644 |
Deafness, autosomal recessive 98 |
| GARD:22663 |
Deafness, autosomal recessive 99 |
| GARD:18160 |
Deafness, nonsyndromic sensorineural, mitochondrial |
| GARD:18159 |
Deafness, sensorineural, autosomal-mitochondrial type |
| GARD:18098 |
Deafness, x-linked 1 |
| GARD:4504 |
Deafness, x-linked 2 |
| GARD:18095 |
Deafness, x-linked 3 |
| GARD:18096 |
Deafness, x-linked 4 |
| GARD:18097 |
Deafness, x-linked 6 |
| GARD:1686 |
Deafness-craniofacial syndrome |
| GARD:1684 |
Deafness-ear malformation-facial palsy syndrome |
| GARD:1687 |
Deafness-enamel hypoplasia-nail defects syndrome |
| GARD:17230 |
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| GARD:1688 |
Deafness-epiphyseal dysplasia-short stature syndrome |
| GARD:4303 |
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome |
| GARD:1691 |
Deafness-hypogonadism syndrome |
| GARD:11911 |
Deafness-infertility syndrome |
| GARD:16750 |
Deafness-intellectual disability syndrome, Martin-Probst type |
| GARD:13030 |
Deafness-lymphedema-leukemia syndrome |
| GARD:1698 |
Deafness-oligodontia syndrome |
| GARD:16624 |
Deafness-onychodystrophy syndrome |
| GARD:2568 |
Deafness-small bowel diverticulosis-neuropathy syndrome |
| GARD:1705 |
Deafness-vitiligo-achalasia syndrome |
| GARD:19720 |
Dedifferentiated liposarcoma |
| GARD:21631 |
Deep dermatophytosis |
| GARD:21345 |
Defect in V-ATPase |
| GARD:21344 |
Defect in conserved oligomeric Golgi complex |
| GARD:17353 |
Deficiency in anterior pituitary function-variable immunodeficiency syndrome |
| GARD:20194 |
Deficient breast volume or number |
| GARD:5623 |
Dehydrated hereditary stomatocytosis |
| GARD:15126 |
Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema |
| GARD:16152 |
Dehydrated hereditary stomatocytosis 2 |
| GARD:9204 |
Dejerine-Sottas syndrome |
| GARD:21265 |
Delayed encephalopathy due to carbon monoxide poisoning |
| GARD:1727 |
Delayed membranous cranial ossification |
| GARD:3449 |
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome |
| GARD:18730 |
Deletion 5q35 |
| GARD:18533 |
Delpire-mcneill syndrome |
| GARD:17165 |
Delta-beta-thalassemia |
| GARD:8573 |
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 |
| GARD:19371 |
Dementia pugilistica |
| GARD:1802 |
Demodicidosis |
| GARD:21952 |
Demyelinating hereditary motor and sensory neuropathy |
| GARD:19082 |
Dendritic cell sarcoma not otherwise specified |
| GARD:8317 |
Dendritic cell tumor |
| GARD:6254 |
Dengue fever |
| GARD:8555 |
Dense deposit disease |
| GARD:19470 |
Dense granule disease |
| GARD:13105 |
Dent disease |
| GARD:1804 |
Dent disease type 1 |
| GARD:10645 |
Dent disease type 2 |
| GARD:701 |
Dental ankylosis |
| GARD:5643 |
Dentatorubral pallidoluysian atrophy |
| GARD:16575 |
Dentin dysplasia |
| GARD:1807 |
Dentin dysplasia type I |
| GARD:1806 |
Dentin dysplasia type II |
| GARD:1808 |
Dentin dysplasia-sclerotic bones syndrome |
| GARD:6258 |
Dentinogenesis imperfecta |
| GARD:12796 |
Dentinogenesis imperfecta type 2 |
| GARD:10144 |
Dentinogenesis imperfecta type 3 |
| GARD:18909 |
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome |
| GARD:19532 |
Dentocutaneous disease with cataract |
| GARD:5576 |
Denys-Drash syndrome |
| GARD:1917 |
Dermatitis herpetiformis |
| GARD:10075 |
Dermatitis herpetiformis, familial |
| GARD:9569 |
Dermatofibrosarcoma protuberans |
| GARD:1813 |
Dermatoleukodystrophy |
| GARD:6263 |
Dermatomyositis |
| GARD:1814 |
Dermatoosteolysis, Kirghizian type |
| GARD:8550 |
Dermatopathia pigmentosa reticularis |
| GARD:2089 |
Dermatosparaxis Ehlers-Danlos syndrome |
| GARD:19006 |
Dermis disorder |
| GARD:19007 |
Dermis elastic tissue disorder |
| GARD:1815 |
Dermochondrocorneal dystrophy |
| GARD:22206 |
Dermoid or epidermoid cyst of the central nervous system |
| GARD:1816 |
Dermoodontodysplasia |
| GARD:19683 |
Dermotrichic syndrome |
| GARD:16451 |
Desbuquois dysplasia 1 |
| GARD:16466 |
Desbuquois dysplasia 2 |
| GARD:1818 |
Desbuquois syndrome |
| GARD:16732 |
Desmin-related myopathy with Mallory body-like inclusions |
| GARD:16870 |
Desminopathy |
| GARD:15070 |
Desmoid disease, hereditary |
| GARD:1820 |
Desmoid tumor |
| GARD:20729 |
Desmoplastic infantile astrocytoma/ganglioglioma |
| GARD:6265 |
Desmoplastic small round cell tumor |
| GARD:17215 |
Desmoplastic/nodular medulloblastoma |
| GARD:10283 |
Desmosterolosis |
| GARD:16864 |
Desquamative interstitial pneumonia |
| GARD:15298 |
Developmental and epileptic encephalopathy 1 |
| GARD:15699 |
Developmental and epileptic encephalopathy 11 |
| GARD:13318 |
Developmental and epileptic encephalopathy 12 |
| GARD:13085 |
Developmental and epileptic encephalopathy 13 |
| GARD:15886 |
Developmental and epileptic encephalopathy 14 |
| GARD:15892 |
Developmental and epileptic encephalopathy 15 |
| GARD:15945 |
Developmental and epileptic encephalopathy 16 |
| GARD:13378 |
Developmental and epileptic encephalopathy 17 |
| GARD:13676 |
Developmental and epileptic encephalopathy 18 |
| GARD:16008 |
Developmental and epileptic encephalopathy 19 |
| GARD:18617 |
Developmental and epileptic encephalopathy 2 |
| GARD:16017 |
Developmental and epileptic encephalopathy 21 |
| GARD:16024 |
Developmental and epileptic encephalopathy 24 |
| GARD:12901 |
Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta |
| GARD:12391 |
Developmental and epileptic encephalopathy 26 |
| GARD:16063 |
Developmental and epileptic encephalopathy 27 |
| GARD:16069 |
Developmental and epileptic encephalopathy 28 |
| GARD:16092 |
Developmental and epileptic encephalopathy 29 |
| GARD:15456 |
Developmental and epileptic encephalopathy 3 |
| GARD:16093 |
Developmental and epileptic encephalopathy 30 |
| GARD:16094 |
Developmental and epileptic encephalopathy 31 |
| GARD:16096 |
Developmental and epileptic encephalopathy 32 |
| GARD:16106 |
Developmental and epileptic encephalopathy 33 |
| GARD:16147 |
Developmental and epileptic encephalopathy 34 |
| GARD:16175 |
Developmental and epileptic encephalopathy 38 |
| GARD:12900 |
Developmental and epileptic encephalopathy 4 |
| GARD:16182 |
Developmental and epileptic encephalopathy 40 |
| GARD:16190 |
Developmental and epileptic encephalopathy 41 |
| GARD:16191 |
Developmental and epileptic encephalopathy 42 |
| GARD:16192 |
Developmental and epileptic encephalopathy 43 |
| GARD:16198 |
Developmental and epileptic encephalopathy 44 |
| GARD:16203 |
Developmental and epileptic encephalopathy 45 |
| GARD:16205 |
Developmental and epileptic encephalopathy 46 |
| GARD:16206 |
Developmental and epileptic encephalopathy 47 |
| GARD:16218 |
Developmental and epileptic encephalopathy 48 |
| GARD:12949 |
Developmental and epileptic encephalopathy 5 |
| GARD:16223 |
Developmental and epileptic encephalopathy 52 |
| GARD:16224 |
Developmental and epileptic encephalopathy 53 |
| GARD:16225 |
Developmental and epileptic encephalopathy 54 |
| GARD:16241 |
Developmental and epileptic encephalopathy 55 |
| GARD:16259 |
Developmental and epileptic encephalopathy 58 |
| GARD:16270 |
Developmental and epileptic encephalopathy 60 |
| GARD:16271 |
Developmental and epileptic encephalopathy 62 |
| GARD:16283 |
Developmental and epileptic encephalopathy 65 |
| GARD:16295 |
Developmental and epileptic encephalopathy 67 |
| GARD:16310 |
Developmental and epileptic encephalopathy 68 |
| GARD:16336 |
Developmental and epileptic encephalopathy 70 |
| GARD:16349 |
Developmental and epileptic encephalopathy 74 |
| GARD:16352 |
Developmental and epileptic encephalopathy 75 |
| GARD:16355 |
Developmental and epileptic encephalopathy 76 |
| GARD:16365 |
Developmental and epileptic encephalopathy 78 |
| GARD:16366 |
Developmental and epileptic encephalopathy 79 |
| GARD:16391 |
Developmental and epileptic encephalopathy 86 |
| GARD:16393 |
Developmental and epileptic encephalopathy 87 |
| GARD:16398 |
Developmental and epileptic encephalopathy 88 |
| GARD:16424 |
Developmental and epileptic encephalopathy 89 |
| GARD:15286 |
Developmental and epileptic encephalopathy 90 |
| GARD:16258 |
Developmental and epileptic encephalopathy 92 |
| GARD:16285 |
Developmental and epileptic encephalopathy 93 |
| GARD:13197 |
Developmental and epileptic encephalopathy 94 |
| GARD:16445 |
Developmental and epileptic encephalopathy 96 |
| GARD:17415 |
Developmental and speech delay due to SOX5 deficiency |
| GARD:19900 |
Developmental anomaly of metabolic origin |
| GARD:16857 |
Developmental defect of the eye |
| GARD:16261 |
Developmental delay and seizures with or without movement abnormalities |
| GARD:17322 |
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency |
| GARD:17496 |
Developmental delay with autism spectrum disorder and gait instability |
| GARD:18517 |
Developmental delay with variable intellectual impairment and behavioral abnormalities |
| GARD:17588 |
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency |
| GARD:22468 |
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome |
| GARD:9818 |
Developmental malformations-deafness-dystonia syndrome |
| GARD:1827 |
Dextrocardia |
| GARD:15289 |
Diabetes insipidus, nephrogenic, 1, x-linked |
| GARD:15058 |
Diabetes insipidus, nephrogenic, 2, autosomal |
| GARD:18602 |
Diabetes insipidus, neurohypophyseal |
| GARD:18603 |
Diabetes insipidus, neurohypophyseal, x-linked |
| GARD:16388 |
Diabetes mellitus, permanent neonatal, 2 |
| GARD:16389 |
Diabetes mellitus, permanent neonatal, 3 |
| GARD:16390 |
Diabetes mellitus, permanent neonatal, 4 |
| GARD:15482 |
Diabetes mellitus, transient neonatal, 2 |
| GARD:15490 |
Diabetes mellitus, transient neonatal, 3 |
| GARD:16580 |
Diabetic embryopathy |
| GARD:15039 |
Diamond-blackfan anemia 1 |
| GARD:15645 |
Diamond-blackfan anemia 10 |
| GARD:15879 |
Diamond-blackfan anemia 11 |
| GARD:15985 |
Diamond-blackfan anemia 12 |
| GARD:16030 |
Diamond-blackfan anemia 13 |
| GARD:15275 |
Diamond-blackfan anemia 14 with mandibulofacial dysostosis |
| GARD:15390 |
Diamond-blackfan anemia 15 with mandibulofacial dysostosis |
| GARD:16227 |
Diamond-blackfan anemia 16 |
| GARD:16228 |
Diamond-blackfan anemia 17 |
| GARD:16338 |
Diamond-blackfan anemia 18 |
| GARD:16339 |
Diamond-blackfan anemia 19 |
| GARD:8283 |
Diamond-blackfan anemia 2 |
| GARD:16340 |
Diamond-blackfan anemia 20 |
| GARD:10241 |
Diamond-blackfan anemia 3 |
| GARD:15561 |
Diamond-blackfan anemia 4 |
| GARD:15562 |
Diamond-blackfan anemia 5 |
| GARD:15568 |
Diamond-blackfan anemia 6 |
| GARD:15569 |
Diamond-blackfan anemia 7 |
| GARD:15570 |
Diamond-blackfan anemia 8 |
| GARD:15644 |
Diamond-blackfan anemia 9 |
| GARD:9797 |
Dianzani autoimmune lymphoproliferative disease |
| GARD:16674 |
Diaphanospondylodysostosis |
| GARD:2397 |
Diaphragmatic defect-limb deficiency-skull defect syndrome |
| GARD:15161 |
Diaphragmatic hernia 2 |
| GARD:15474 |
Diaphragmatic hernia 3 |
| GARD:22193 |
Diaphragmatic hernia-short bowel-asplenia syndrome |
| GARD:19393 |
Diaphragmatic or abdominal wall malformation |
| GARD:10072 |
Diaphyseal medullary stenosis-bone malignancy syndrome |
| GARD:18260 |
Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies |
| GARD:18261 |
Diarrhea 8, secretory sodium, congenital |
| GARD:6275 |
Diastrophic dysplasia |
| GARD:20068 |
Diazoxide-resistant diffuse hyperinsulinism |
| GARD:18983 |
Diazoxide-resistant focal hyperinsulinism |
| GARD:17286 |
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency |
| GARD:17285 |
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency |
| GARD:21055 |
Diazoxide-resistant hyperinsulinism |
| GARD:20067 |
Diazoxide-sensitive diffuse hyperinsulinism |
| GARD:1855 |
Dicarboxylic aminoaciduria |
| GARD:20176 |
Didelphys uterus |
| GARD:21591 |
Didymosis aplasticosebacea |
| GARD:6276 |
Diencephalic syndrome |
| GARD:21407 |
Diencephalic-mesencephalic junction dysplasia |
| GARD:1859 |
Diethylstilbestrol syndrome |
| GARD:12027 |
Differentiated thyroid carcinoma |
| GARD:19110 |
Diffuse alveolar hemorrhage |
| GARD:5907 |
Diffuse astrocytoma |
| GARD:17672 |
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome |
| GARD:12686 |
Diffuse cutaneous mastocytosis |
| GARD:9751 |
Diffuse cutaneous systemic sclerosis |
| GARD:10780 |
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia |
| GARD:13075 |
Diffuse intrinsic pontine glioma |
| GARD:3178 |
Diffuse large B-cell lymphoma |
| GARD:21246 |
Diffuse large B-cell lymphoma of the central nervous system |
| GARD:21250 |
Diffuse large B-cell lymphoma with chronic inflammation |
| GARD:20739 |
Diffuse leptomeningeal melanocytosis |
| GARD:19961 |
Diffuse lymphatic malformation |
| GARD:1861 |
Diffuse neonatal hemangiomatosis |
| GARD:21289 |
Diffuse palmoplantar keratoderma |
| GARD:17595 |
Diffuse palmoplantar keratoderma with painful fissures |
| GARD:19089 |
Diffuse palmoplantar keratoderma-acrocyanosis syndrome |
| GARD:8526 |
Diffuse panbronchiolitis |
| GARD:15118 |
Digeorge syndrome |
| GARD:18684 |
Digestive duplication |
| GARD:19942 |
Digestive duplication cyst of the tongue |
| GARD:19391 |
Digestive tract malformation |
| GARD:2589 |
Digital extensor muscle aplasia-polyneuropathy |
| GARD:18807 |
Digitalis poisoning |
| GARD:15059 |
Digitotalar dysmorphism |
| GARD:4319 |
Dihydropteridine reductase deficiency |
| GARD:19 |
Dihydropyrimidine dehydrogenase deficiency |
| GARD:12347 |
Dihydropyrimidinuria |
| GARD:221 |
Dilated cardiomyopathy |
| GARD:12964 |
Dilated cardiomyopathy with ataxia |
| GARD:3373 |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome |
| GARD:17185 |
Dimethylglycine dehydrogenase deficiency |
| GARD:1872 |
Diphallia |
| GARD:1875 |
Diphtheria |
| GARD:942 |
Diphyllobothriasis |
| GARD:1876 |
Diprosopus |
| GARD:11908 |
Dirofilariasis |
| GARD:19131 |
Discoid lupus erythematosus |
| GARD:19620 |
Discrete fibromuscular subaortic stenosis |
| GARD:16892 |
Discrete fixed membranous subaortic stenosis |
| GARD:19138 |
Discrete papular lichen myxedematosus |
| GARD:19274 |
Disease associated with non-acquired combined pituitary hormone deficiency |
| GARD:21291 |
Disease with diffuse palmoplantar keratoderma as a major feature |
| GARD:21296 |
Disease with focal palmoplantar keratoderma as a major feature |
| GARD:21300 |
Disease with punctate palmoplantar keratoderma as a major feature |
| GARD:1428 |
Dislocation of the hip-dysmorphism syndrome |
| GARD:21338 |
Disorder of O-N-acetylgalactosaminylglycan synthesis |
| GARD:21340 |
Disorder of O-mannosylglycan synthesis |
| GARD:21339 |
Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis |
| GARD:21337 |
Disorder of O-xylosylglycan synthesis |
| GARD:18948 |
Disorder of amino acid absorption and transport |
| GARD:18937 |
Disorder of amino acid and other organic acid metabolism |
| GARD:21622 |
Disorder of asparagine metabolism |
| GARD:21303 |
Disorder of beta and omega amino acid metabolism |
| GARD:18949 |
Disorder of bile acid synthesis |
| GARD:21347 |
Disorder of bilirubin metabolism and excretion |
| GARD:18976 |
Disorder of biogenic amine metabolism and transport |
| GARD:18971 |
Disorder of branched-chain amino acid metabolism |
| GARD:21313 |
Disorder of carbohydrate absorption and transport |
| GARD:18946 |
Disorder of carbohydrate metabolism |
| GARD:21320 |
Disorder of carnitine cycle and carnitine transport |
| GARD:21351 |
Disorder of catecholamine synthesis |
| GARD:18951 |
Disorder of cobalamin metabolism and transport |
| GARD:21354 |
Disorder of copper metabolism |
| GARD:18972 |
Disorder of energy metabolism |
| GARD:21317 |
Disorder of fatty acid oxidation and ketogenesis |
| GARD:18954 |
Disorder of fatty acid oxidation and ketone body metabolism |
| GARD:21131 |
Disorder of folate metabolism and transport |
| GARD:21307 |
Disorder of fructose metabolism |
| GARD:21341 |
Disorder of fucoglycosan synthesis |
| GARD:21308 |
Disorder of galactose metabolism |
| GARD:18955 |
Disorder of gamma-aminobutyric acid metabolism |
| GARD:21156 |
Disorder of glutamine metabolism |
| GARD:18958 |
Disorder of glycerol metabolism |
| GARD:21306 |
Disorder of glycolysis |
| GARD:21342 |
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation |
| GARD:21312 |
Disorder of glyoxylate metabolism |
| GARD:18959 |
Disorder of histidine metabolism |
| GARD:21355 |
Disorder of iron metabolism and transport |
| GARD:18960 |
Disorder of ketolysis |
| GARD:21821 |
Disorder of keton body transport |
| GARD:21316 |
Disorder of lipid absorption and transport |
| GARD:21314 |
Disorder of lipid metabolism |
| GARD:21155 |
Disorder of lysine and hydroxylysine metabolism |
| GARD:18974 |
Disorder of lysosomal amino acid transport |
| GARD:21334 |
Disorder of lysosomal-related organelles |
| GARD:21357 |
Disorder of magnesium transport |
| GARD:21358 |
Disorder of manganese transport |
| GARD:21528 |
Disorder of melanin metabolism |
| GARD:21349 |
Disorder of metabolite absorption and transport |
| GARD:18953 |
Disorder of methionine cycle and sulfur amino acid metabolism |
| GARD:21353 |
Disorder of mineral absorption and transport |
| GARD:21343 |
Disorder of multiple glycosylation |
| GARD:18950 |
Disorder of neurotransmitter metabolism and transport |
| GARD:21305 |
Disorder of neutral amino acid transport |
| GARD:21158 |
Disorder of ornithine metabolism |
| GARD:18961 |
Disorder of ornithine or proline metabolism |
| GARD:21352 |
Disorder of other vitamins and cofactors metabolism and transport |
| GARD:18962 |
Disorder of pentose phosphate metabolism |
| GARD:18963 |
Disorder of peptide metabolism |
| GARD:12476 |
Disorder of peroxisomal alpha-, beta- and omega-oxidation |
| GARD:18964 |
Disorder of phenylalanin or tyrosine metabolism |
| GARD:21126 |
Disorder of phenylalanine metabolism |
| GARD:21516 |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis |
| GARD:21517 |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement |
| GARD:21518 |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement |
| GARD:21519 |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement |
| GARD:18790 |
Disorder of plasmalogens biosynthesis |
| GARD:21346 |
Disorder of porphyrin and heme metabolism |
| GARD:21157 |
Disorder of proline metabolism |
| GARD:21335 |
Disorder of protein N-glycosylation |
| GARD:21336 |
Disorder of protein O-glycosylation |
| GARD:21348 |
Disorder of pterin metabolism |
| GARD:18965 |
Disorder of purine metabolism |
| GARD:18980 |
Disorder of purine or pyrimidine metabolism |
| GARD:18966 |
Disorder of pyridoxine metabolism |
| GARD:18967 |
Disorder of pyrimidine metabolism |
| GARD:18968 |
Disorder of serine or glycine metabolism |
| GARD:19147 |
Disorder of sex development |
| GARD:21477 |
Disorder of sex development of gynecological interest |
| GARD:4550 |
Disorder of sex development-intellectual disability syndrome |
| GARD:21332 |
Disorder of sialic acid metabolism |
| GARD:18970 |
Disorder of the gamma-glutamyl cycle |
| GARD:21231 |
Disorder of thiamine metabolism and transport |
| GARD:21154 |
Disorder of tryptophan metabolism |
| GARD:21127 |
Disorder of tyrosine metabolism |
| GARD:7837 |
Disorder of urea cycle metabolism and ammonia detoxification |
| GARD:21350 |
Disorder of vitamin and non-protein cofactor absorption and transport |
| GARD:21356 |
Disorder of zinc metabolism and transport |
| GARD:22293 |
Disorder with multisystemic involvement and glomerulopathy |
| GARD:22298 |
Disorder with multisystemic involvement and primary lymphedema |
| GARD:22113 |
Disorder with optic nerve compression |
| GARD:21841 |
Disorders of pentose/polyol metabolism |
| GARD:21132 |
Disorders of vitamin D metabolism |
| GARD:1883 |
Dissecting cellulitis of the scalp |
| GARD:12843 |
Disseminated peritoneal leiomyomatosis |
| GARD:10983 |
Disseminated superficial actinic porokeratosis |
| GARD:17244 |
Distal 16p11.2 microdeletion syndrome |
| GARD:10996 |
Distal 17p13.1 microdeletion syndrome |
| GARD:20776 |
Distal 17p13.3 microdeletion syndrome |
| GARD:17245 |
Distal 22q11.2 microdeletion syndrome |
| GARD:20780 |
Distal 22q11.2 microduplication syndrome |
| GARD:17218 |
Distal 7q11.23 microdeletion syndrome |
| GARD:20770 |
Distal 7q11.23 microduplication syndrome |
| GARD:17350 |
Distal Xq28 microduplication syndrome |
| GARD:17653 |
Distal anoctaminopathy |
| GARD:786 |
Distal arthrogryposis |
| GARD:787 |
Distal arthrogryposis type 1 |
| GARD:17212 |
Distal arthrogryposis type 10 |
| GARD:13059 |
Distal arthrogryposis type 5D |
| GARD:12683 |
Distal hereditary motor neuropathy |
| GARD:16953 |
Distal hereditary motor neuropathy type 1 |
| GARD:16954 |
Distal hereditary motor neuropathy type 2 |
| GARD:16955 |
Distal hereditary motor neuropathy type 5 |
| GARD:16960 |
Distal hereditary motor neuropathy type 7 |
| GARD:10133 |
Distal hereditary motor neuropathy, Jerash type |
| GARD:3252 |
Distal limb deficiencies-micrognathia syndrome |
| GARD:1323 |
Distal monosomy 10p |
| GARD:3711 |
Distal monosomy 10q |
| GARD:21078 |
Distal monosomy 12p |
| GARD:19328 |
Distal monosomy 12q |
| GARD:16571 |
Distal monosomy 13q |
| GARD:19329 |
Distal monosomy 14q |
| GARD:16572 |
Distal monosomy 15q |
| GARD:10972 |
Distal monosomy 17q |
| GARD:19326 |
Distal monosomy 19p13.3 |
| GARD:16640 |
Distal monosomy 1q |
| GARD:3750 |
Distal monosomy 3p |
| GARD:19327 |
Distal monosomy 4q |
| GARD:16845 |
Distal monosomy 6p |
| GARD:19325 |
Distal monosomy 7p |
| GARD:18731 |
Distal monosomy 7q36 |
| GARD:18732 |
Distal monosomy 9p |
| GARD:18699 |
Distal myopathy |
| GARD:17080 |
Distal myopathy with anterior tibial onset |
| GARD:16666 |
Distal myopathy with posterior leg and anterior hand involvement |
| GARD:17900 |
Distal myopathy, Tateyama type |
| GARD:5552 |
Distal myopathy, Welander type |
| GARD:16871 |
Distal myotilinopathy |
| GARD:21656 |
Distal nebulin myopathy |
| GARD:4667 |
Distal renal tubular acidosis |
| GARD:12354 |
Distal renal tubular acidosis with anemia |
| GARD:16956 |
Distal spinal muscular atrophy type 3 |
| GARD:5074 |
Distal symphalangism |
| GARD:17424 |
Distal tetrasomy 15q |
| GARD:19317 |
Distal trisomy 10q |
| GARD:19318 |
Distal trisomy 11q |
| GARD:19319 |
Distal trisomy 13q |
| GARD:18739 |
Distal trisomy 14q |
| GARD:18740 |
Distal trisomy 15q |
| GARD:19320 |
Distal trisomy 16q |
| GARD:18794 |
Distal trisomy 17q |
| GARD:18742 |
Distal trisomy 18q |
| GARD:18743 |
Distal trisomy 19q |
| GARD:19303 |
Distal trisomy 1p36 |
| GARD:19321 |
Distal trisomy 20q |
| GARD:19322 |
Distal trisomy 22q |
| GARD:19304 |
Distal trisomy 2p |
| GARD:19310 |
Distal trisomy 2q |
| GARD:19305 |
Distal trisomy 3p |
| GARD:19312 |
Distal trisomy 4q |
| GARD:19313 |
Distal trisomy 5q |
| GARD:18745 |
Distal trisomy 6p |
| GARD:19314 |
Distal trisomy 6q |
| GARD:19307 |
Distal trisomy 7p |
| GARD:19315 |
Distal trisomy 8q |
| GARD:19316 |
Distal trisomy 9q |
| GARD:1891 |
Distomatosis |
| GARD:5092 |
Dobrow syndrome |
| GARD:17164 |
Dominant beta-thalassemia |
| GARD:17186 |
Dominant hypophosphatemia with nephrolithiasis or osteoporosis |
| GARD:1899 |
Donnai-Barrow syndrome |
| GARD:12144 |
Dopa-responsive dystonia |
| GARD:10365 |
Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| GARD:1903 |
Dopamine beta-hydroxylase deficiency |
| GARD:1907 |
Double outlet left ventricle |
| GARD:1908 |
Double outlet right ventricle |
| GARD:21756 |
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy |
| GARD:19617 |
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect |
| GARD:21755 |
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect |
| GARD:19615 |
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis |
| GARD:19616 |
Double outlet right ventricle with subpulmonary ventricular septal defect |
| GARD:1910 |
Double uterus-hemivagina-renal agenesis syndrome |
| GARD:19268 |
Double-orifice mitral valve |
| GARD:9775 |
Dowling-Degos disease |
| GARD:15944 |
Dowling-degos disease 2 |
| GARD:16001 |
Dowling-degos disease 3 |
| GARD:16002 |
Dowling-degos disease 4 |
| GARD:10247 |
Down syndrome |
| GARD:6286 |
Dracunculiasis |
| GARD:10430 |
Dravet syndrome |
| GARD:20942 |
Drug or radiation exposure-related interstitial lung disease |
| GARD:13629 |
Drug reaction with eosinophilia and systemic symptoms |
| GARD:21026 |
Drug- or toxin-induced pulmonary arterial hypertension |
| GARD:19102 |
Drug-induced autoimmune hemolytic anemia |
| GARD:19126 |
Drug-induced localized lipodystrophy |
| GARD:20599 |
Drug-induced lupus erythematosus |
| GARD:20697 |
Drug-induced vasculitis |
| GARD:19378 |
Drug-related renal tubular dysgenesis |
| GARD:18842 |
Duane anomaly-myopathy-scoliosis syndrome |
| GARD:6288 |
Duane retraction syndrome |
| GARD:10763 |
Duane retraction syndrome 1 |
| GARD:9966 |
Duane retraction syndrome 2 |
| GARD:10691 |
Duane retraction syndrome 3 with or without deafness |
| GARD:17968 |
Duane retraction syndrome with congenital deafness |
| GARD:2793 |
Dubin-Johnson syndrome |
| GARD:6290 |
Dubowitz syndrome |
| GARD:18686 |
Duchenne and Becker muscular dystrophy |
| GARD:6291 |
Duchenne muscular dystrophy |
| GARD:54 |
Duodenal atresia |
| GARD:19751 |
Duodenal neuroendocrine tumor |
| GARD:19164 |
Duplication of the esophagus |
| GARD:21381 |
Duplication of the pituitary gland |
| GARD:1975 |
Duplication of urethra |
| GARD:19368 |
Dural sinus malformation |
| GARD:6295 |
Dyggve-Melchior-Clausen disease |
| GARD:15290 |
Dyggve-melchior-clausen syndrome, x-linked |
| GARD:6703 |
Dysbetalipoproteinemia |
| GARD:1994 |
Dyschondrosteosis-nephritis syndrome |
| GARD:334 |
Dyschromatosis symmetrica hereditaria |
| GARD:1996 |
Dyschromatosis universalis hereditaria |
| GARD:15581 |
Dyschromatosis universalis hereditaria 2 |
| GARD:15959 |
Dyschromatosis universalis hereditaria 3 |
| GARD:10640 |
Dysembryoplastic neuroepithelial tumor |
| GARD:1998 |
Dysequilibrium syndrome |
| GARD:8574 |
Dysferlin-related limb-girdle muscular dystrophy R2 |
| GARD:10905 |
Dyskeratosis congenita |
| GARD:6299 |
Dyskeratosis congenita, autosomal dominant 1 |
| GARD:15741 |
Dyskeratosis congenita, autosomal dominant 2 |
| GARD:15742 |
Dyskeratosis congenita, autosomal dominant 3 |
| GARD:16136 |
Dyskeratosis congenita, autosomal dominant 6 |
| GARD:6300 |
Dyskeratosis congenita, autosomal recessive 1 |
| GARD:15739 |
Dyskeratosis congenita, autosomal recessive 2 |
| GARD:15740 |
Dyskeratosis congenita, autosomal recessive 3 |
| GARD:15917 |
Dyskeratosis congenita, autosomal recessive 5 |
| GARD:16095 |
Dyskeratosis congenita, autosomal recessive 6 |
| GARD:2007 |
Dyskeratosis congenita, x-linked |
| GARD:2009 |
Dysmorphism-cleft palate-loose skin syndrome |
| GARD:17328 |
Dysmorphism-conductive hearing loss-heart defect syndrome |
| GARD:18760 |
Dysmorphism-pectus carinatum-joint laxity syndrome |
| GARD:18764 |
Dysmorphism-short stature-deafness-disorder of sex development syndrome |
| GARD:2012 |
Dysosteosclerosis |
| GARD:21571 |
Dysostosis |
| GARD:21725 |
Dysostosis of genetic origin |
| GARD:21726 |
Dysostosis of genetic origin with limb anomaly as a major feature |
| GARD:18895 |
Dysostosis with brachydactyly |
| GARD:22023 |
Dysostosis with brachydactyly with extraskeletal manifestations |
| GARD:22022 |
Dysostosis with brachydactyly without extraskeletal manifestations |
| GARD:21187 |
Dysostosis with combined reduction defects of upper and lower limbs |
| GARD:21573 |
Dysostosis with limb and face anomalies as a major feature |
| GARD:21572 |
Dysostosis with limb anomaly as a major feature |
| GARD:19207 |
Dysostosis with predominant craniofacial involvement |
| GARD:19208 |
Dysostosis with predominant vertebral and costal involvement |
| GARD:2016 |
Dysostosis, Stanescu type |
| GARD:19641 |
Dysphagia lusoria |
| GARD:2019 |
Dysplasia epiphysealis hemimelica |
| GARD:20098 |
Dysplasia of head of femur, Meyer type |
| GARD:2022 |
Dysplastic cortical hyperostosis |
| GARD:3438 |
Dysraphism-cleft lip/palate-limb reduction defects syndrome |
| GARD:9810 |
Dyssegmental dysplasia, Rolland-Desbuquois type |
| GARD:2026 |
Dyssegmental dysplasia, Silverman-Handmaker type |
| GARD:19051 |
Dysspondyloenchondromatosis |
| GARD:15061 |
Dystonia 1, torsion, autosomal dominant |
| GARD:18616 |
Dystonia 11, myoclonic |
| GARD:10539 |
Dystonia 16 |
| GARD:16103 |
Dystonia 26, myoclonic |
| GARD:22359 |
Dystonia 28 |
| GARD:21739 |
Dystonia-aphonia syndrome |
| GARD:17958 |
Dystonia-parkinsonism-hypermanganesemia syndrome |
| GARD:2150 |
Dystrophic epidermolysis bullosa |
| GARD:16779 |
Dystrophic epidermolysis bullosa pruriginosa |
| GARD:10514 |
EAST syndrome |
| GARD:17349 |
EDICT syndrome |
| GARD:2076 |
EEC syndrome |
| GARD:19512 |
EEC syndrome and related disorders |
| GARD:2078 |
EEM syndrome |
| GARD:22485 |
EGF-related primary hypomagnesemia with intellectual disability |
| GARD:21994 |
EMILIN-1-related connective tissue disease |
| GARD:18027 |
EN1-related dorsoventral syndrome |
| GARD:22302 |
EPHB4-related lymphatic-related hydrops fetalis |
| GARD:17913 |
EVEN-plus syndrome |
| GARD:6309 |
Eales disease |
| GARD:2033 |
Ear-patella-short stature syndrome |
| GARD:9255 |
Early infantile epileptic encephalopathy |
| GARD:16581 |
Early myoclonic encephalopathy |
| GARD:17482 |
Early-onset Lafora body disease |
| GARD:10199 |
Early-onset X-linked optic atrophy |
| GARD:1140 |
Early-onset anterior polar cataract |
| GARD:19487 |
Early-onset ataxia with dementia |
| GARD:22465 |
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome |
| GARD:12798 |
Early-onset autosomal dominant Alzheimer disease |
| GARD:22246 |
Early-onset calcifying leukoencephalopathy-skeletal dysplasia |
| GARD:2600 |
Early-onset cerebellar ataxia with retained tendon reflexes |
| GARD:17897 |
Early-onset epilepsy-intellectual disability-brain anomalies syndrome |
| GARD:21134 |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation |
| GARD:17687 |
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome |
| GARD:22243 |
Early-onset familial hypoaldosteronism |
| GARD:2027 |
Early-onset generalized limb-onset dystonia |
| GARD:13155 |
Early-onset lamellar cataract |
| GARD:17324 |
Early-onset myopathy with fatal cardiomyopathy |
| GARD:12199 |
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome |
| GARD:16801 |
Early-onset non-syndromic cataract |
| GARD:16887 |
Early-onset nuclear cataract |
| GARD:19685 |
Early-onset obesity-hyperphagia-severe developmental delay syndrome |
| GARD:3203 |
Early-onset parkinsonism-intellectual disability syndrome |
| GARD:16888 |
Early-onset partial cataract |
| GARD:16889 |
Early-onset posterior polar cataract |
| GARD:21846 |
Early-onset posterior subcapsular cataract |
| GARD:17911 |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| GARD:2995 |
Early-onset progressive encephalopathy with migrant continuous myoclonus |
| GARD:17923 |
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| GARD:17914 |
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome |
| GARD:17523 |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome |
| GARD:19352 |
Early-onset schizophrenia |
| GARD:17942 |
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome |
| GARD:17409 |
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome |
| GARD:16885 |
Early-onset sutural cataract |
| GARD:1898 |
Early-onset zonular cataract |
| GARD:17613 |
East Texas bleeding disorder |
| GARD:10821 |
Eastern equine encephalitis |
| GARD:20078 |
Eating reflex epilepsy |
| GARD:2035 |
Ebola hemorrhagic fever |
| GARD:6313 |
Ebstein malformation of the tricuspid valve |
| GARD:19650 |
Ectasia of the left atrial appendage |
| GARD:19649 |
Ectasia of the right atrial appendage |
| GARD:18591 |
Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant |
| GARD:15163 |
Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive |
| GARD:18592 |
Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant |
| GARD:15885 |
Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive |
| GARD:18593 |
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type |
| GARD:16361 |
Ectodermal dysplasia 15, hypohidrotic/hair type |
| GARD:18062 |
Ectodermal dysplasia 4, hair/nail type |
| GARD:18063 |
Ectodermal dysplasia 5, hair/nail type |
| GARD:18064 |
Ectodermal dysplasia 6, hair/nail type |
| GARD:18065 |
Ectodermal dysplasia 7, hair/nail type |
| GARD:18066 |
Ectodermal dysplasia 9, hair/nail type |
| GARD:15542 |
Ectodermal dysplasia and immunodeficiency 2 |
| GARD:6317 |
Ectodermal dysplasia syndrome |
| GARD:10526 |
Ectodermal dysplasia with natal teeth, Turnpenny type |
| GARD:2055 |
Ectodermal dysplasia, trichoodontoonychial type |
| GARD:2045 |
Ectodermal dysplasia-blindness syndrome |
| GARD:17199 |
Ectodermal dysplasia-cutaneous syndactyly syndrome |
| GARD:16578 |
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome |
| GARD:9723 |
Ectodermal dysplasia-sensorineural deafness syndrome |
| GARD:9705 |
Ectodermal dysplasia-skin fragility syndrome |
| GARD:17198 |
Ectodermal dysplasia-syndactyly syndrome |
| GARD:21877 |
Ectopia cordis |
| GARD:15062 |
Ectopia lentis 1, isolated, autosomal dominant |
| GARD:2060 |
Ectopia lentis 2, isolated, autosomal recessive |
| GARD:15164 |
Ectopia lentis et pupillae |
| GARD:3999 |
Ectopia lentis-chorioretinal dystrophy-myopia syndrome |
| GARD:20622 |
Ectopic aldosterone-producing tumor |
| GARD:22030 |
Ectrodactyly with and without other manifestations |
| GARD:15063 |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 |
| GARD:2068 |
Ectrodactyly-polydactyly syndrome |
| GARD:2074 |
Edinburgh malformation syndrome |
| GARD:6322 |
Ehlers-Danlos syndrome |
| GARD:17156 |
Ehlers-Danlos/osteogenesis imperfecta syndrome |
| GARD:16256 |
Ehlers-danlos syndrome, arthrochalasia type, 2 |
| GARD:15982 |
Ehlers-danlos syndrome, musculocontractural type, 2 |
| GARD:16209 |
Ehlers-danlos syndrome, periodontal type, 2 |
| GARD:15947 |
Ehlers-danlos syndrome, spondylodysplastic type, 2 |
| GARD:2092 |
Ehrlichiosis |
| GARD:16698 |
Eiken syndrome |
| GARD:6323 |
Eisenmenger syndrome |
| GARD:12716 |
Elastoderma |
| GARD:20580 |
Elastofibroma dorsi |
| GARD:20582 |
Elastoma |
| GARD:10103 |
Elastosis perforans serpiginosa |
| GARD:15528 |
Elliptocytosis 1 |
| GARD:15064 |
Elliptocytosis 2 |
| GARD:16273 |
Elliptocytosis 3 |
| GARD:1301 |
Ellis Van Creveld syndrome |
| GARD:9835 |
Emanuel syndrome |
| GARD:5140 |
Embryonal carcinoma |
| GARD:18836 |
Embryonal carcinoma of the central nervous system |
| GARD:4702 |
Embryonal rhabdomyosarcoma |
| GARD:20716 |
Embryonal tumor of neuroepithelial tissue |
| GARD:6329 |
Emery-Dreifuss muscular dystrophy |
| GARD:2593 |
Emery-Nelson syndrome |
| GARD:10230 |
Emery-dreifuss muscular dystrophy 2, autosomal dominant |
| GARD:18209 |
Emery-dreifuss muscular dystrophy 3, autosomal recessive |
| GARD:18206 |
Emery-dreifuss muscular dystrophy 4, autosomal dominant |
| GARD:18207 |
Emery-dreifuss muscular dystrophy 5, autosomal dominant |
| GARD:18208 |
Emery-dreifuss muscular dystrophy 7, autosomal dominant |
| GARD:646 |
Enamel-renal syndrome |
| GARD:19357 |
Encephalitis |
| GARD:6332 |
Encephalitis lethargica |
| GARD:20987 |
Encephaloclastic disorder |
| GARD:2108 |
Encephalocraniocutaneous lipomatosis |
| GARD:22192 |
Encephalopathy due to mitochondrial and peroxisomal fission defect |
| GARD:12505 |
Encephalopathy due to prosaposin deficiency |
| GARD:16549 |
Encephalopathy due to sulfite oxidase deficiency |
| GARD:15853 |
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 |
| GARD:15854 |
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 |
| GARD:16131 |
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 |
| GARD:16267 |
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 |
| GARD:18384 |
Encephalopathy, acute, infection-induced, susceptibility to, 4 |
| GARD:17470 |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| GARD:19635 |
Encircling double aortic arch |
| GARD:6336 |
Endocardial fibroelastosis |
| GARD:17094 |
Endocrine-cerebro-osteodysplasia syndrome |
| GARD:20220 |
Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature |
| GARD:6339 |
Endometrial stromal sarcoma |
| GARD:21893 |
Endometrioid carcinoma of ovary |
| GARD:20333 |
Endophthalmitis |
| GARD:390 |
Endosteal hyperostosis, Worth type |
| GARD:1195 |
Endosteal sclerosis-cerebellar hypoplasia syndrome |
| GARD:18561 |
Endove syndrome, limb-brain type |
| GARD:18560 |
Endove syndrome, limb-only type |
| GARD:20554 |
Energy metabolism disorder with epilepsy |
| GARD:2123 |
Eng-Strom syndrome |
| GARD:16662 |
Enlarged parietal foramina |
| GARD:16729 |
Enteric anendocrinosis |
| GARD:9809 |
Enteropathy-associated T-cell lymphoma |
| GARD:10969 |
Enthesitis-related juvenile idiopathic arthritis |
| GARD:21886 |
Eosinophilic angiocentric fibrosis |
| GARD:21715 |
Eosinophilic colitis |
| GARD:6351 |
Eosinophilic fasciitis |
| GARD:9142 |
Eosinophilic gastroenteritis |
| GARD:6111 |
Eosinophilic granulomatosis with polyangiitis |
| GARD:16527 |
Ependymal tumor |
| GARD:20720 |
Ependymoblastoma |
| GARD:6353 |
Ependymoma |
| GARD:19671 |
Epiblepharon |
| GARD:20625 |
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome |
| GARD:19032 |
Epidemic typhus |
| GARD:18993 |
Epidermal appendage anomaly |
| GARD:18984 |
Epidermal disease |
| GARD:18813 |
Epidermal nevus syndrome |
| GARD:6357 |
Epidermodysplasia verruciformis |
| GARD:16334 |
Epidermodysplasia verruciformis, susceptibility to, 3 |
| GARD:16337 |
Epidermodysplasia verruciformis, susceptibility to, 5 |
| GARD:15291 |
Epidermodysplasia verruciformis, x-linked |
| GARD:6360 |
Epidermolysis bullosa acquisita |
| GARD:10752 |
Epidermolysis bullosa simplex |
| GARD:17690 |
Epidermolysis bullosa simplex due to BP230 deficiency |
| GARD:17691 |
Epidermolysis bullosa simplex due to exophilin 5 deficiency |
| GARD:18766 |
Epidermolysis bullosa simplex with anodontia/hypodontia |
| GARD:16990 |
Epidermolysis bullosa simplex with circinate migratory erythema |
| GARD:22387 |
Epidermolysis bullosa simplex with extracutaneous involvement |
| GARD:9737 |
Epidermolysis bullosa simplex with mottled pigmentation |
| GARD:2137 |
Epidermolysis bullosa simplex with muscular dystrophy |
| GARD:16991 |
Epidermolysis bullosa simplex with pyloric atresia |
| GARD:22386 |
Epidermolysis bullosa simplex without extracutaneous involvement |
| GARD:22016 |
Epidermolytic nevus |
| GARD:2826 |
Epidermolytic palmoplantar keratoderma |
| GARD:19943 |
Epignathus |
| GARD:21277 |
Epilepsy and/or ataxia with myoclonus as a major feature |
| GARD:20083 |
Epilepsy syndrome |
| GARD:19087 |
Epilepsy with myoclonic absences |
| GARD:18057 |
Epilepsy, childhood absence, susceptibility to, 1 |
| GARD:18061 |
Epilepsy, childhood absence, susceptibility to, 5 |
| GARD:18060 |
Epilepsy, childhood absence, susceptibility to, 6 |
| GARD:18082 |
Epilepsy, familial adult myoclonic, 1 |
| GARD:18083 |
Epilepsy, familial adult myoclonic, 2 |
| GARD:18084 |
Epilepsy, familial adult myoclonic, 3 |
| GARD:18085 |
Epilepsy, familial adult myoclonic, 4 |
| GARD:18086 |
Epilepsy, familial adult myoclonic, 5 |
| GARD:18202 |
Epilepsy, familial focal, with variable foci 1 |
| GARD:18203 |
Epilepsy, familial focal, with variable foci 2 |
| GARD:18204 |
Epilepsy, familial focal, with variable foci 3 |
| GARD:18279 |
Epilepsy, familial temporal lobe, 3 |
| GARD:15523 |
Epilepsy, familial temporal lobe, 4 |
| GARD:18280 |
Epilepsy, familial temporal lobe, 5 |
| GARD:18281 |
Epilepsy, familial temporal lobe, 6 |
| GARD:16112 |
Epilepsy, familial temporal lobe, 7 |
| GARD:16116 |
Epilepsy, familial temporal lobe, 8 |
| GARD:18286 |
Epilepsy, hot water, 1 |
| GARD:18287 |
Epilepsy, hot water, 2 |
| GARD:18059 |
Epilepsy, idiopathic generalized, susceptibility to, 13 |
| GARD:16269 |
Epilepsy, juvenile myoclonic, susceptibility to, 10 |
| GARD:15784 |
Epilepsy, juvenile myoclonic, susceptibility to, 9 |
| GARD:15319 |
Epilepsy, nocturnal frontal lobe, 1 |
| GARD:15352 |
Epilepsy, nocturnal frontal lobe, 2 |
| GARD:15380 |
Epilepsy, nocturnal frontal lobe, 3 |
| GARD:15481 |
Epilepsy, nocturnal frontal lobe, 4 |
| GARD:15891 |
Epilepsy, nocturnal frontal lobe, 5 |
| GARD:15556 |
Epilepsy, progressive myoclonic, 1b |
| GARD:836 |
Epilepsy-microcephaly-skeletal dysplasia syndrome |
| GARD:2168 |
Epilepsy-telangiectasia syndrome |
| GARD:17532 |
Epileptic encephalopathy with global cerebral demyelination |
| GARD:9791 |
Epiphyseal dysplasia, multiple, 2 |
| GARD:9792 |
Epiphyseal dysplasia, multiple, 3 |
| GARD:13376 |
Epiphyseal dysplasia, multiple, 6 |
| GARD:2178 |
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome |
| GARD:4189 |
Epiphyseal stippling-osteoclastic hyperplasia syndrome |
| GARD:21666 |
Epiphysiolysis of the hip |
| GARD:16641 |
Episodic ataxia type 1 |
| GARD:16702 |
Episodic ataxia type 3 |
| GARD:16703 |
Episodic ataxia type 4 |
| GARD:17113 |
Episodic ataxia type 5 |
| GARD:17107 |
Episodic ataxia type 6 |
| GARD:17108 |
Episodic ataxia type 7 |
| GARD:17665 |
Episodic ataxia with slurred speech |
| GARD:15506 |
Episodic kinesigenic dyskinesia 2 |
| GARD:18440 |
Episodic pain syndrome, familial, 2 |
| GARD:9732 |
Epithelial basement membrane dystrophy |
| GARD:17338 |
Epithelial recurrent erosion dystrophy |
| GARD:21771 |
Epithelial tumor of anal canal |
| GARD:21766 |
Epithelial tumor of the appendix |
| GARD:20014 |
Epithelioid hemangioendothelioma |
| GARD:10181 |
Epithelioid sarcoma |
| GARD:20750 |
Epithelioid trophoblastic tumor |
| GARD:21148 |
Epstein-Barr Virus-associated carcinoma |
| GARD:21149 |
Epstein-Barr Virus-associated mesenchymal tumor |
| GARD:21146 |
Epstein-Barr Virus-related tumor |
| GARD:21362 |
Epstein-Barr virus-associated gastric carcinoma |
| GARD:21147 |
Epstein-Barr virus-associated malignant lymphoproliferative disorder |
| GARD:21150 |
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly |
| GARD:6369 |
Erdheim-Chester disease |
| GARD:407 |
Ermine phenotype |
| GARD:2188 |
Erosive pustular dermatosis of the scalp |
| GARD:8653 |
Erythema elevatum diutinum |
| GARD:22049 |
Erythema multiforme major |
| GARD:17157 |
Erythema palmare hereditarium |
| GARD:17392 |
Erythrocyte galactose epimerase deficiency |
| GARD:18355 |
Erythrocytosis, familial, 3 |
| GARD:18356 |
Erythrocytosis, familial, 4 |
| GARD:6878 |
Erythroderma desquamativum |
| GARD:18986 |
Erythrokeratoderma |
| GARD:1722 |
Erythrokeratoderma ''en cocardes'' |
| GARD:10923 |
Erythrokeratoderma variabilis progressiva |
| GARD:16528 |
Erythrokeratodermia variabilis |
| GARD:18588 |
Erythrokeratodermia variabilis et progressiva 2 |
| GARD:18589 |
Erythrokeratodermia variabilis et progressiva 3 |
| GARD:18590 |
Erythrokeratodermia variabilis et progressiva 4 |
| GARD:18669 |
Erythrokeratodermia variabilis et progressiva 5 |
| GARD:18672 |
Erythrokeratodermia variabilis et progressiva 6 |
| GARD:18674 |
Erythrokeratodermia variabilis et progressiva 7 |
| GARD:21950 |
Erythrokeratodermia-cardiomyopathy syndrome |
| GARD:15066 |
Erythroleukemia, familial, susceptibility to |
| GARD:10948 |
Erythropoietic uroporphyria associated with myeloid malignancy |
| GARD:6381 |
Esophageal atresia |
| GARD:19744 |
Esophageal duplication cyst |
| GARD:19095 |
Esophageal malformation |
| GARD:6471 |
Essential fructosuria |
| GARD:19611 |
Essential iris atrophy |
| GARD:6594 |
Essential thrombocythemia |
| GARD:2197 |
Esthesioneuroblastoma |
| GARD:16548 |
Estrogen resistance syndrome |
| GARD:18805 |
Ethylene glycol poisoning |
| GARD:2198 |
Ethylmalonic encephalopathy |
| GARD:19674 |
Euryblepharon |
| GARD:21940 |
Euthyroid Graves orbitopathy |
| GARD:22401 |
Euthyroid dysprealbuminemic hyperthyroxinemia |
| GARD:6389 |
Evans syndrome |
| GARD:20193 |
Excess breast volume or number |
| GARD:20765 |
Exercise intolerance with lactic acidosis |
| GARD:9932 |
Exercise-induced hyperinsulinism |
| GARD:21936 |
Exercise-induced malignant hyperthermia |
| GARD:17329 |
Exfoliative ichthyosis |
| GARD:2204 |
Exostoses, multiple, type i |
| GARD:2205 |
Exostoses, multiple, type ii |
| GARD:2206 |
Exostoses, multiple, type iii |
| GARD:2202 |
Exostoses-anetodermia-brachydactyly type E syndrome |
| GARD:20943 |
Exposure-related interstitial lung disease |
| GARD:2207 |
Exstrophy-epispadias complex |
| GARD:21842 |
Extensive peripapillary myelinated nerve fibers |
| GARD:2597 |
Extensor tendons of finger anomalies |
| GARD:16969 |
External auditory canal aplasia/hypoplasia |
| GARD:4638 |
External auditory canal atresia-vertical talus-hypertelorism syndrome |
| GARD:22003 |
Extracranial carotid artery aneurysm |
| GARD:18871 |
Extracutaneous mastocytoma |
| GARD:9325 |
Extragonadal germ cell tumor |
| GARD:2005 |
Extragonadal germinoma |
| GARD:19706 |
Extragonadal non-dysgerminomatous germ cell tumor |
| GARD:18711 |
Extragonadal teratoma |
| GARD:21091 |
Extralobar congenital pulmonary sequestration |
| GARD:4192 |
Extramammary Paget disease |
| GARD:19740 |
Extramedullary soft tissue plasmacytoma |
| GARD:19730 |
Extraneural perineurioma |
| GARD:7041 |
Extranodal nasal NK/T cell lymphoma |
| GARD:19886 |
Extrapelvic endometriosis |
| GARD:17600 |
Extraskeletal Ewing sarcoma |
| GARD:17105 |
Extraskeletal myxoid chondrosarcoma |
| GARD:2213 |
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome |
| GARD:20727 |
Extraventricular neurocytoma |
| GARD:15068 |
Exudative vitreoretinopathy 1 |
| GARD:15292 |
Exudative vitreoretinopathy 2, x-linked |
| GARD:15386 |
Exudative vitreoretinopathy 3 |
| GARD:15337 |
Exudative vitreoretinopathy 4 |
| GARD:15646 |
Exudative vitreoretinopathy 5 |
| GARD:16118 |
Exudative vitreoretinopathy 6 |
| GARD:16238 |
Exudative vitreoretinopathy 7 |
| GARD:10054 |
Eye defects-arachnodactyly-cardiopathy syndrome |
| GARD:2216 |
Eyebrow duplication-syndactyly syndrome |
| GARD:19498 |
Eyelid border anomaly |
| GARD:22454 |
F12-associated cold autoinflammatory syndrome |
| GARD:16935 |
F12-related hereditary angioedema with normal C1Inh |
| GARD:15004 |
FADD-related immunodeficiency |
| GARD:17026 |
FASTKD2-related infantile mitochondrial encephalomyopathy |
| GARD:2622 |
FATCO syndrome |
| GARD:21717 |
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome |
| GARD:2317 |
FG syndrome type 1 |
| GARD:10965 |
FGFR2-related bent bone dysplasia |
| GARD:19185 |
FGFR3-related chondrodysplasia |
| GARD:12533 |
FKRP-related limb-girdle muscular dystrophy R9 |
| GARD:1096 |
FLNA-related X-linked myxomatous valvular dysplasia |
| GARD:2346 |
FLOTCH syndrome |
| GARD:12825 |
FOXG1 syndrome |
| GARD:20771 |
FOXG1 syndrome due to 14q12 microdeletion |
| GARD:22402 |
FOXG1 syndrome due to intragenic alteration |
| GARD:2378 |
FRAXE intellectual disability |
| GARD:19769 |
FRAXF syndrome |
| GARD:13472 |
FTH1-related iron overload |
| GARD:6400 |
Fabry disease |
| GARD:12663 |
Facial arteriovenous malformation |
| GARD:19964 |
Facial cleft |
| GARD:19938 |
Facial dermoid cyst |
| GARD:21984 |
Facial diplegia with paresthesias |
| GARD:2221 |
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome |
| GARD:17311 |
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
| GARD:17839 |
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation |
| GARD:18019 |
Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome |
| GARD:17528 |
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome |
| GARD:17688 |
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome |
| GARD:2222 |
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome |
| GARD:17422 |
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome |
| GARD:4778 |
Facial dysmorphism-shawl scrotum-joint laxity syndrome |
| GARD:12036 |
Facial onset sensory and motor neuronopathy |
| GARD:18436 |
Facial paresis, hereditary congenital, 2 |
| GARD:18437 |
Facial paresis, hereditary congenital, 3 |
| GARD:2230 |
Faciocardiorenal syndrome |
| GARD:9941 |
Facioscapulohumeral dystrophy |
| GARD:15087 |
Facioscapulohumeral muscular dystrophy 1 |
| GARD:15088 |
Facioscapulohumeral muscular dystrophy 2, digenic |
| GARD:22414 |
Factor V Amsterdam bleeding disorder |
| GARD:22415 |
Factor V Atlanta bleeding disorder |
| GARD:22413 |
Factor V short isoforms-related bleeding disorder |
| GARD:18630 |
Factor v and factor viii, combined deficiency of, 1 |
| GARD:18632 |
Factor v and factor viii, combined deficiency of, 2 |
| GARD:18631 |
Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor |
| GARD:15633 |
Factor xiii, a subunit, deficiency of |
| GARD:15635 |
Factor xiii, b subunit, deficiency of |
| GARD:893 |
Fallot complex-intellectual disability-growth delay syndrome |
| GARD:21084 |
Familial Alzheimer-like prion disease |
| GARD:17874 |
Familial Chilblain lupus |
| GARD:17973 |
Familial GPIHBP1 deficiency |
| GARD:4011 |
Familial LCAT deficiency |
| GARD:6421 |
Familial Mediterranean fever |
| GARD:7610 |
Familial Scheuermann disease |
| GARD:9181 |
Familial abdominal aortic aneurysm |
| GARD:13232 |
Familial acute necrotizing encephalopathy |
| GARD:6408 |
Familial adenomatous polyposis |
| GARD:20786 |
Familial adenomatous polyposis due to 5q22.2 microdeletion |
| GARD:16839 |
Familial adrenal hypoplasia with absent pituitary luteinizing hormone |
| GARD:9242 |
Familial advanced sleep-phase syndrome |
| GARD:5761 |
Familial afibrinogenemia |
| GARD:20585 |
Familial anetoderma |
| GARD:17089 |
Familial angiolipomatosis |
| GARD:1654 |
Familial aortic dissection |
| GARD:6704 |
Familial apolipoprotein A5 deficiency |
| GARD:759 |
Familial apolipoprotein C-II deficiency |
| GARD:3054 |
Familial articular hypermobility syndrome |
| GARD:9740 |
Familial atrial fibrillation |
| GARD:139 |
Familial atrial myxoma |
| GARD:17729 |
Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease |
| GARD:9281 |
Familial atypical multiple mole melanoma syndrome |
| GARD:10914 |
Familial avascular necrosis of femoral head |
| GARD:6559 |
Familial benign chronic pemphigus |
| GARD:1522 |
Familial benign copper deficiency |
| GARD:18651 |
Familial benign flecked retina |
| GARD:17670 |
Familial bicuspid aortic valve |
| GARD:1292 |
Familial calcium pyrophosphate deposition |
| GARD:215 |
Familial caudal dysgenesis |
| GARD:17822 |
Familial cavitary optic disc anomaly |
| GARD:13641 |
Familial cerebral cavernous malformation |
| GARD:17161 |
Familial cerebral saccular aneurysm |
| GARD:18823 |
Familial cervical artery dissection |
| GARD:6414 |
Familial chylomicronemia syndrome |
| GARD:17177 |
Familial clubfoot due to 17q23.1q23.2 microduplication |
| GARD:17336 |
Familial clubfoot due to 5q31 microdeletion |
| GARD:17337 |
Familial clubfoot due to PITX1 point mutation |
| GARD:17093 |
Familial clubfoot with or without associated lower limb anomalies |
| GARD:15051 |
Familial cold autoinflammatory syndrome 1 |
| GARD:16061 |
Familial cold autoinflammatory syndrome 4 |
| GARD:9535 |
Familial cold urticaria |
| GARD:21840 |
Familial colorectal cancer Type X |
| GARD:12551 |
Familial congenital mirror movements |
| GARD:17784 |
Familial congenital nasolacrimal duct obstruction |
| GARD:10355 |
Familial congenital palsy of trochlear nerve |
| GARD:17444 |
Familial cortical myoclonus |
| GARD:9799 |
Familial cutaneous collagenoma |
| GARD:17413 |
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome |
| GARD:9707 |
Familial cylindromatosis |
| GARD:1823 |
Familial developmental dysphasia |
| GARD:16735 |
Familial digital arthropathy-brachydactyly |
| GARD:20525 |
Familial dilated cardiomyopathy |
| GARD:18615 |
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation |
| GARD:1912 |
Familial drusen |
| GARD:7581 |
Familial dysautonomia |
| GARD:2004 |
Familial dysfibrinogenemia |
| GARD:12722 |
Familial dyskinesia and facial myokymia |
| GARD:10037 |
Familial encephalopathy with neuroserpin inclusion bodies |
| GARD:12684 |
Familial episodic pain syndrome |
| GARD:17619 |
Familial episodic pain syndrome with predominantly lower limb involvement |
| GARD:17618 |
Familial episodic pain syndrome with predominantly upper body involvement |
| GARD:9168 |
Familial expansile osteolysis |
| GARD:1613 |
Familial exudative vitreoretinopathy |
| GARD:13295 |
Familial focal epilepsy with variable foci |
| GARD:21932 |
Familial gastric type 1 neuroendocrine tumor |
| GARD:17158 |
Familial generalized lentiginosis |
| GARD:16913 |
Familial gestational hyperthyroidism |
| GARD:2498 |
Familial glucocorticoid deficiency |
| GARD:6589 |
Familial hemophagocytic lymphohistiocytosis |
| GARD:20630 |
Familial hyperaldosteronism |
| GARD:2790 |
Familial hyperaldosteronism type I |
| GARD:2789 |
Familial hyperaldosteronism type II |
| GARD:12362 |
Familial hyperaldosteronism type III |
| GARD:17173 |
Familial hypercholanemia |
| GARD:22466 |
Familial hyperinflammatory lymphoproliferative immunodeficiency |
| GARD:21053 |
Familial hyperinsulinism |
| GARD:10879 |
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome |
| GARD:17634 |
Familial hyperprolactinemia |
| GARD:2858 |
Familial hyperthyroidism due to mutations in TSH receptor |
| GARD:16532 |
Familial hypoaldosteronism |
| GARD:10828 |
Familial hypocalciuric hypercalcemia |
| GARD:2796 |
Familial hypocalciuric hypercalcemia type 1 |
| GARD:9758 |
Familial hypocalciuric hypercalcemia type 2 |
| GARD:2878 |
Familial hypocalciuric hypercalcemia type 3 |
| GARD:17202 |
Familial hypodysfibrinogenemia |
| GARD:2887 |
Familial hypofibrinogenemia |
| GARD:18735 |
Familial idiopathic dilatation of the right atrium |
| GARD:17141 |
Familial infantile bilateral striatal necrosis |
| GARD:17521 |
Familial infantile myoclonic epilepsy |
| GARD:22067 |
Familial intestinal malrotation |
| GARD:21119 |
Familial intrahepatic cholestasis |
| GARD:17129 |
Familial isolated arrhythmogenic right ventricular dysplasia |
| GARD:17346 |
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
| GARD:17345 |
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form |
| GARD:17347 |
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
| GARD:21202 |
Familial isolated clinodactyly of fingers |
| GARD:16944 |
Familial isolated congenital asplenia |
| GARD:2905 |
Familial isolated dilated cardiomyopathy |
| GARD:16923 |
Familial isolated hyperparathyroidism |
| GARD:2910 |
Familial isolated hypoparathyroidism |
| GARD:16589 |
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland |
| GARD:17088 |
Familial isolated hypoparathyroidism due to impaired PTH secretion |
| GARD:10959 |
Familial isolated pituitary adenoma |
| GARD:16692 |
Familial isolated restrictive cardiomyopathy |
| GARD:13167 |
Familial isolated trichomegaly |
| GARD:9450 |
Familial juvenile hypertrophy of the breast |
| GARD:18693 |
Familial keratoacanthoma |
| GARD:10244 |
Familial lipase maturation factor 1 deficiency |
| GARD:12241 |
Familial lipoprotein lipase deficiency |
| GARD:16547 |
Familial long QT syndrome |
| GARD:4475 |
Familial male-limited precocious puberty |
| GARD:17663 |
Familial median cleft of the upper and lower lips |
| GARD:15069 |
Familial mediterranean fever, autosomal dominant |
| GARD:16901 |
Familial medullary thyroid carcinoma |
| GARD:3460 |
Familial melanoma |
| GARD:17011 |
Familial mesial temporal lobe epilepsy with febrile seizures |
| GARD:3687 |
Familial mitral valve prolapse |
| GARD:3765 |
Familial monosomy 7 syndrome |
| GARD:17278 |
Familial multinodular goiter |
| GARD:8479 |
Familial multiple discoid fibromas |
| GARD:12925 |
Familial multiple lipomatosis |
| GARD:17260 |
Familial multiple meningioma |
| GARD:3986 |
Familial multiple nevi flammei |
| GARD:10867 |
Familial multiple trichoepithelioma |
| GARD:2254 |
Familial nasal acilia |
| GARD:21421 |
Familial nonmedullary thyroid carcinoma |
| GARD:10878 |
Familial normophosphatemic tumoral calcinosis |
| GARD:21086 |
Familial omphalocele syndrome with facial dysmorphism |
| GARD:10768 |
Familial or sporadic hemiplegic migraine |
| GARD:17713 |
Familial ossifying fibroma |
| GARD:4133 |
Familial osteochondritis dissecans |
| GARD:4136 |
Familial osteodysplasia, Anderson type |
| GARD:20467 |
Familial ovarian cancer |
| GARD:4206 |
Familial pancreatic carcinoma |
| GARD:8488 |
Familial papillary or follicular thyroid carcinoma |
| GARD:16853 |
Familial papillary thyroid carcinoma with renal papillary neoplasia |
| GARD:9602 |
Familial paroxysmal ataxia |
| GARD:2173 |
Familial partial epilepsy |
| GARD:11962 |
Familial partial lipodystrophy |
| GARD:3126 |
Familial partial lipodystrophy, Dunnigan type |
| GARD:12598 |
Familial partial lipodystrophy, Köbberling type |
| GARD:17828 |
Familial patent arterial duct |
| GARD:10352 |
Familial platelet disorder with associated myeloid malignancy |
| GARD:2258 |
Familial porencephaly |
| GARD:17750 |
Familial porphyria cutanea tarda |
| GARD:2837 |
Familial primary hyperparathyroidism |
| GARD:17533 |
Familial primary localized cutaneous amyloidosis |
| GARD:10005 |
Familial progressive cardiac conduction defect |
| GARD:17298 |
Familial progressive hyper- and hypopigmentation |
| GARD:16706 |
Familial progressive hyperpigmentation |
| GARD:17888 |
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome |
| GARD:4520 |
Familial prostate cancer |
| GARD:16785 |
Familial pseudohyperkalemia |
| GARD:4569 |
Familial pterygium of the conjunctiva |
| GARD:13331 |
Familial reactive perforating collagenosis |
| GARD:16609 |
Familial recurrent peripheral facial palsy |
| GARD:7548 |
Familial renal glucosuria |
| GARD:20532 |
Familial restrictive cardiomyopathy |
| GARD:12779 |
Familial retinal arterial macroaneurysm |
| GARD:17159 |
Familial rhabdoid tumor |
| GARD:20113 |
Familial scaphocephaly syndrome |
| GARD:3426 |
Familial scaphocephaly syndrome, McGillivray type |
| GARD:17876 |
Familial schizencephaly |
| GARD:16650 |
Familial short QT syndrome |
| GARD:13663 |
Familial sick sinus syndrome |
| GARD:4997 |
Familial spontaneous pneumothorax |
| GARD:13818 |
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency |
| GARD:17295 |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| GARD:2259 |
Familial supernumerary nipples |
| GARD:21589 |
Familial syringomyelia |
| GARD:5135 |
Familial temporal lobe epilepsy |
| GARD:2249 |
Familial thoracic aortic aneurysm and aortic dissection |
| GARD:16688 |
Familial thrombocytosis |
| GARD:5195 |
Familial thrombomodulin anomalies |
| GARD:5204 |
Familial thyroglossal duct cyst |
| GARD:16843 |
Familial thyroid dyshormonogenesis |
| GARD:10877 |
Familial tumoral calcinosis |
| GARD:17323 |
Familial vesicoureteral reflux |
| GARD:3443 |
Familial visceral myopathy |
| GARD:6425 |
Fanconi anemia |
| GARD:15170 |
Fanconi anemia, complementation group a |
| GARD:15257 |
Fanconi anemia, complementation group b |
| GARD:15168 |
Fanconi anemia, complementation group c |
| GARD:15169 |
Fanconi anemia, complementation group d2 |
| GARD:15324 |
Fanconi anemia, complementation group e |
| GARD:15355 |
Fanconi anemia, complementation group f |
| GARD:15753 |
Fanconi anemia, complementation group g |
| GARD:15448 |
Fanconi anemia, complementation group i |
| GARD:15449 |
Fanconi anemia, complementation group j |
| GARD:15754 |
Fanconi anemia, complementation group l |
| GARD:15500 |
Fanconi anemia, complementation group n |
| GARD:15656 |
Fanconi anemia, complementation group o |
| GARD:15731 |
Fanconi anemia, complementation group p |
| GARD:15934 |
Fanconi anemia, complementation group q |
| GARD:16214 |
Fanconi anemia, complementation group r |
| GARD:16264 |
Fanconi anemia, complementation group s |
| GARD:16111 |
Fanconi anemia, complementation group t |
| GARD:16215 |
Fanconi anemia, complementation group u |
| GARD:16213 |
Fanconi anemia, complementation group v |
| GARD:15655 |
Fanconi renotubular syndrome 2 |
| GARD:15991 |
Fanconi renotubular syndrome 3 |
| GARD:16048 |
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young |
| GARD:16392 |
Fanconi renotubular syndrome 5 |
| GARD:2268 |
Fanconi-Bickel syndrome |
| GARD:6426 |
Farber disease |
| GARD:6427 |
Farmer's lung disease |
| GARD:15171 |
Fascial dystrophy, congenital |
| GARD:10728 |
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease |
| GARD:6429 |
Fatal familial insomnia |
| GARD:16569 |
Fatal infantile cytochrome C oxidase deficiency |
| GARD:17296 |
Fatal infantile hypertonic myofibrillar myopathy |
| GARD:3163 |
Fatal infantile lactic acidosis with methylmalonic aciduria |
| GARD:17035 |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| GARD:21620 |
Fatal post-viral neurodegenerative disorder |
| GARD:10810 |
Fatty acid hydroxylase-associated neurodegeneration |
| GARD:20528 |
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy |
| GARD:20522 |
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy |
| GARD:13319 |
Fatty acyl-CoA reductase 1 deficiency |
| GARD:11005 |
Febrile infection-related epilepsy syndrome |
| GARD:18283 |
Febrile seizures, familial, 11 |
| GARD:18058 |
Febrile seizures, familial, 8 |
| GARD:8407 |
Feingold syndrome |
| GARD:17624 |
Feingold syndrome type 1 |
| GARD:17625 |
Feingold syndrome type 2 |
| GARD:8234 |
Felty syndrome |
| GARD:21694 |
Female infertility due to an implantation defect of genetic origin |
| GARD:17887 |
Female infertility due to oocyte meiotic arrest |
| GARD:17675 |
Female infertility due to zona pellucida defect |
| GARD:10806 |
Female restricted epilepsy with intellectual disability |
| GARD:1503 |
Femoral agenesis/hypoplasia |
| GARD:61 |
Femoral-facial syndrome |
| GARD:2286 |
Femur-fibula-ulna complex |
| GARD:21637 |
Ferro-cerebro-cutaneous syndrome |
| GARD:10675 |
Fetal Gaucher disease |
| GARD:9634 |
Fetal akinesia deformation sequence |
| GARD:16495 |
Fetal akinesia deformation sequence 2 |
| GARD:16496 |
Fetal akinesia deformation sequence 3 |
| GARD:16497 |
Fetal akinesia deformation sequence 4 |
| GARD:2293 |
Fetal akinesia syndrome, x-linked |
| GARD:17553 |
Fetal akinesia-cerebral and retinal hemorrhage syndrome |
| GARD:599 |
Fetal alcohol syndrome |
| GARD:2295 |
Fetal and neonatal alloimmune thrombocytopenia |
| GARD:21594 |
Fetal anticonvulsant syndrome |
| GARD:21595 |
Fetal carbamazepine syndrome |
| GARD:1480 |
Fetal cytomegalovirus syndrome |
| GARD:17823 |
Fetal encasement syndrome |
| GARD:18656 |
Fetal hemoglobin quantitative trait locus 1 |
| GARD:18657 |
Fetal hemoglobin quantitative trait locus 2 |
| GARD:18658 |
Fetal hemoglobin quantitative trait locus 3 |
| GARD:6435 |
Fetal hydantoin syndrome |
| GARD:2304 |
Fetal iodine syndrome |
| GARD:21804 |
Fetal lower urinary tract obstruction |
| GARD:21118 |
Fetal lung interstitial tumor |
| GARD:3575 |
Fetal methylmercury syndrome |
| GARD:2308 |
Fetal minoxidil syndrome |
| GARD:4236 |
Fetal parvovirus syndrome |
| GARD:18750 |
Fetal trimethadione syndrome |
| GARD:5447 |
Fetal valproate spectrum disorder |
| GARD:17820 |
Fever-associated acute infantile liver failure syndrome |
| GARD:20708 |
Fibrillary astrocytoma |
| GARD:21958 |
Fibroblastic rheumatism |
| GARD:2321 |
Fibrochondrogenesis |
| GARD:15815 |
Fibrochondrogenesis 2 |
| GARD:6445 |
Fibrodysplasia ossificans progressiva |
| GARD:22239 |
Fibrohistiocytic inflammatory pseudotumor of the liver |
| GARD:21704 |
Fibrolamellar hepatocellular carcinoma |
| GARD:6509 |
Fibromatosis, gingival, 1 |
| GARD:2474 |
Fibromatosis, gingival, 2 |
| GARD:9911 |
Fibromatosis, gingival, 3 |
| GARD:2475 |
Fibromatosis, gingival, 4 |
| GARD:18357 |
Fibromatosis, gingival, 5 |
| GARD:15019 |
Fibronectin glomerulopathy |
| GARD:2327 |
Fibrosarcoma |
| GARD:5697 |
Fibrosclerosis, multifocal |
| GARD:15341 |
Fibrosis of extraocular muscles, congenital, 2 |
| GARD:15321 |
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement |
| GARD:15459 |
Fibrosis of extraocular muscles, congenital, 3c |
| GARD:18164 |
Fibrosis of extraocular muscles, congenital, 5 |
| GARD:15466 |
Fibrosis of extraocular muscles, congenital, with synergistic divergence |
| GARD:22487 |
Fibrosis-neurodegeneration-cerebral angiomatosis syndrome |
| GARD:6444 |
Fibrous dysplasia of bone |
| GARD:22384 |
Fibrous dysplasia/McCune-Albright syndrome |
| GARD:9879 |
Fibular aplasia-complex brachydactyly syndrome |
| GARD:2331 |
Fibular aplasia-ectrodactyly syndrome |
| GARD:18746 |
Fibular dimelia-diplopodia syndrome |
| GARD:8659 |
Fibular hemimelia |
| GARD:320 |
Fibulo-ulnar hypoplasia-renal anomalies syndrome |
| GARD:19190 |
Filamin-related bone disorder |
| GARD:18757 |
Filariasis |
| GARD:62 |
Filippi syndrome |
| GARD:21584 |
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome |
| GARD:12720 |
Fingerprint body myopathy |
| GARD:17652 |
Finnish upper limb-onset distal myopathy |
| GARD:19934 |
First branchial cleft anomaly |
| GARD:6450 |
Fish-eye disease |
| GARD:21170 |
Fixed drug eruption |
| GARD:16619 |
Fixed subaortic stenosis |
| GARD:4873 |
Flat face-microstomia-ear anomaly syndrome |
| GARD:16879 |
Fleck corneal dystrophy |
| GARD:6455 |
Floating-Harbor syndrome |
| GARD:10173 |
Florid cemento-osseous dysplasia |
| GARD:2347 |
Flynn-Aird syndrome |
| GARD:21299 |
Focal acral hyperkeratosis |
| GARD:6457 |
Focal dermal hypoplasia |
| GARD:21522 |
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation |
| GARD:8416 |
Focal facial dermal dysplasia |
| GARD:16524 |
Focal facial dermal dysplasia type I |
| GARD:17649 |
Focal facial dermal dysplasia type II |
| GARD:121 |
Focal facial dermal dysplasia type III |
| GARD:17650 |
Focal facial dermal dysplasia type IV |
| GARD:18837 |
Focal myositis |
| GARD:3098 |
Focal palmoplantar and gingival keratoderma |
| GARD:21294 |
Focal palmoplantar keratoderma |
| GARD:17596 |
Focal palmoplantar keratoderma with joint keratoses |
| GARD:15353 |
Focal segmental glomerulosclerosis 1 |
| GARD:15362 |
Focal segmental glomerulosclerosis 2 |
| GARD:15422 |
Focal segmental glomerulosclerosis 3, susceptibility to |
| GARD:15564 |
Focal segmental glomerulosclerosis 4, susceptibility to |
| GARD:15636 |
Focal segmental glomerulosclerosis 5 |
| GARD:15761 |
Focal segmental glomerulosclerosis 6 |
| GARD:16045 |
Focal segmental glomerulosclerosis 7 |
| GARD:16051 |
Focal segmental glomerulosclerosis 8 |
| GARD:16070 |
Focal segmental glomerulosclerosis 9 |
| GARD:17756 |
Focal stiff limb syndrome |
| GARD:18749 |
Focal, segmental or multifocal dystonia |
| GARD:4163 |
Foix-Alajouanine syndrome |
| GARD:2351 |
Foix-Chavany-Marie syndrome |
| GARD:18938 |
Folinic acid-responsive seizures |
| GARD:21236 |
Follicular cholangitis and pancreatitis |
| GARD:19081 |
Follicular dendritic cell sarcoma |
| GARD:2356 |
Follicular lymphoma |
| GARD:15608 |
Follicular lymphoma, susceptibility to, 1 |
| GARD:20154 |
Folliculotropic mycosis fungoides |
| GARD:20591 |
Foodborne botulism |
| GARD:9279 |
Formiminoglutamic aciduria |
| GARD:64 |
Fountain syndrome |
| GARD:19936 |
Fourth branchial cleft anomaly |
| GARD:17632 |
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome |
| GARD:406 |
Foveal hypoplasia-presenile cataract syndrome |
| GARD:2365 |
Fowler urethral sphincter dysfunction syndrome |
| GARD:17138 |
Fowler vasculopaty |
| GARD:6464 |
Fragile X syndrome |
| GARD:16806 |
Fragile X-associated tremor/ataxia syndrome |
| GARD:5138 |
Frank-Ter Haar syndrome |
| GARD:6465 |
Fraser syndrome |
| GARD:2375 |
Frasier syndrome |
| GARD:10870 |
Free sialic acid storage disease |
| GARD:175 |
Free sialic acid storage disease, infantile form |
| GARD:6466 |
Freeman-Sheldon syndrome |
| GARD:16753 |
Fried syndrome |
| GARD:16903 |
Fried's tooth and nail syndrome |
| GARD:6468 |
Friedreich ataxia |
| GARD:15340 |
Friedreich ataxia 2 |
| GARD:18753 |
Frontal encephalocele |
| GARD:10886 |
Frontal fibrosing alopecia |
| GARD:2390 |
Frontofacionasal dysplasia |
| GARD:826 |
Frontometaphyseal dysplasia |
| GARD:15293 |
Frontometaphyseal dysplasia 1 |
| GARD:16199 |
Frontometaphyseal dysplasia 2 |
| GARD:19955 |
Frontonasal arteriovenous malformation |
| GARD:2392 |
Frontonasal dysplasia |
| GARD:12641 |
Frontonasal dysplasia-alopecia-genital anomalies syndrome |
| GARD:22142 |
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome |
| GARD:12640 |
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome |
| GARD:12642 |
Frontorhiny |
| GARD:19485 |
Frontotemporal degeneration with dementia |
| GARD:8436 |
Frontotemporal dementia |
| GARD:18396 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| GARD:18397 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 |
| GARD:16113 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 |
| GARD:18398 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| GARD:16427 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 |
| GARD:15733 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
| GARD:15322 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
| GARD:18395 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 |
| GARD:17273 |
Frontotemporal dementia with motor neuron disease |
| GARD:21268 |
Frontotemporal neurodegeneration with movement disorder |
| GARD:2400 |
Fructose-1,6-bisphosphatase deficiency |
| GARD:3699 |
Fryns syndrome |
| GARD:2409 |
Fryns-Smeets-Thiry syndrome |
| GARD:10018 |
Fuchs endothelial corneal dystrophy |
| GARD:6791 |
Fuchs heterochromic iridocyclitis |
| GARD:6473 |
Fucosidosis |
| GARD:2410 |
Fuhrmann syndrome |
| GARD:12538 |
Fukutin-related limb-girdle muscular dystrophy R13 |
| GARD:18812 |
Fulminant viral hepatitis |
| GARD:6476 |
Fumaric aciduria |
| GARD:20321 |
Functional neutrophil defect |
| GARD:20613 |
Functional variant of Guillain-Barré syndrome |
| GARD:19158 |
Functioning gonadotropic adenoma |
| GARD:22053 |
Functioning neuroendocrine tumor of pancreas |
| GARD:21389 |
Functioning pituitary adenoma |
| GARD:13809 |
Fundus albipunctatus |
| GARD:9633 |
Fundus dystrophy, pseudoinflammatory, recessive form |
| GARD:19613 |
Fundus pulverulentus |
| GARD:22134 |
Fungal keratitis |
| GARD:20380 |
Fungal myositis |
| GARD:2418 |
Furuncular myiasis |
| GARD:22260 |
Furuncular myiasis due to Cordylobia anthropophaga |
| GARD:22261 |
Furuncular myiasis due to Cordylobia rodhaini |
| GARD:22259 |
Furuncular myiasis due to Dermatobia hominis |
| GARD:20570 |
Fusariosis |
| GARD:2419 |
Fused mandibular incisors |
| GARD:400 |
GAPO syndrome |
| GARD:10460 |
GCGR-related hyperglucagonemia |
| GARD:22299 |
GJC2-related late-onset primary lymphedema |
| GARD:10891 |
GM1 gangliosidosis |
| GARD:6479 |
GM1 gangliosidosis type 1 |
| GARD:10126 |
GM1 gangliosidosis type 2 |
| GARD:2431 |
GM1 gangliosidosis type 3 |
| GARD:21323 |
GM2 gangliosidosis |
| GARD:17406 |
GM2 gangliosidosis, AB variant |
| GARD:12059 |
GM3 synthase deficiency |
| GARD:12544 |
GMPPB-related limb-girdle muscular dystrophy R19 |
| GARD:2523 |
GMS syndrome |
| GARD:22369 |
GNAO1-related developmental delay-seizures-movement disorder spectrum |
| GARD:17982 |
GNB5-related intellectual disability-cardiac arrhythmia syndrome |
| GARD:9493 |
GNE myopathy |
| GARD:1 |
GRACILE syndrome |
| GARD:19356 |
GRFoma |
| GARD:22356 |
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder |
| GARD:2844 |
GTP cyclohydrolase I deficiency |
| GARD:17947 |
Gabriele-de Vries syndrome |
| GARD:19104 |
Gaisböck syndrome |
| GARD:2422 |
Galactokinase deficiency |
| GARD:5392 |
Galactose epimerase deficiency |
| GARD:18005 |
Galactose mutarotase deficiency |
| GARD:2424 |
Galactosemia |
| GARD:3953 |
Galactosialidosis |
| GARD:19761 |
Gallbladder neuroendocrine tumor |
| GARD:65 |
Galloway-Mowat syndrome |
| GARD:15199 |
Galloway-mowat syndrome 1 |
| GARD:15281 |
Galloway-mowat syndrome 2, x-linked |
| GARD:16247 |
Galloway-mowat syndrome 3 |
| GARD:16248 |
Galloway-mowat syndrome 4 |
| GARD:16249 |
Galloway-mowat syndrome 5 |
| GARD:16343 |
Galloway-mowat syndrome 6 |
| GARD:16344 |
Galloway-mowat syndrome 7 |
| GARD:16345 |
Galloway-mowat syndrome 8 |
| GARD:194 |
Gamma-aminobutyric acid transaminase deficiency |
| GARD:10099 |
Gamma-glutamyl transpeptidase deficiency |
| GARD:10346 |
Gamma-heavy chain disease |
| GARD:2429 |
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 |
| GARD:10638 |
Gangliocytoma |
| GARD:2430 |
Ganglioglioma |
| GARD:20719 |
Ganglioneuroblastoma |
| GARD:20731 |
Ganglioneuroma |
| GARD:12510 |
Gangliosidosis |
| GARD:6482 |
Gardner syndrome |
| GARD:17416 |
Gastric adenocarcinoma and proximal polyposis of the stomach |
| GARD:18822 |
Gastric linitis plastica |
| GARD:2438 |
Gastrocutaneous syndrome |
| GARD:19383 |
Gastroduodenal malformation |
| GARD:21985 |
Gastroenteric neuroendocrine neoplasm |
| GARD:2437 |
Gastroenteropancreatic neuroendocrine neoplasm |
| GARD:8598 |
Gastrointestinal stromal tumor |
| GARD:8661 |
Gastroschisis |
| GARD:8233 |
Gaucher disease |
| GARD:2441 |
Gaucher disease type 1 |
| GARD:2442 |
Gaucher disease type 2 |
| GARD:2443 |
Gaucher disease type 3 |
| GARD:12504 |
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
| GARD:16234 |
Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development |
| GARD:9647 |
Gelatinous drop-like corneal dystrophy |
| GARD:2449 |
Geleophysic dysplasia |
| GARD:15172 |
Geleophysic dysplasia 1 |
| GARD:15768 |
Geleophysic dysplasia 2 |
| GARD:16255 |
Geleophysic dysplasia 3 |
| GARD:2451 |
Gemignani syndrome |
| GARD:20709 |
Gemistocytic astrocytoma |
| GARD:8380 |
Generalized arterial calcification of infancy |
| GARD:17042 |
Generalized basaloid follicular hamartoma syndrome |
| GARD:20368 |
Generalized bulbospinal muscular atrophy |
| GARD:18659 |
Generalized epilepsy with febrile seizures plus, type 1 |
| GARD:18671 |
Generalized epilepsy with febrile seizures plus, type 10 |
| GARD:18661 |
Generalized epilepsy with febrile seizures plus, type 2 |
| GARD:18662 |
Generalized epilepsy with febrile seizures plus, type 4 |
| GARD:18663 |
Generalized epilepsy with febrile seizures plus, type 6 |
| GARD:18665 |
Generalized epilepsy with febrile seizures plus, type 7 |
| GARD:18664 |
Generalized epilepsy with febrile seizures plus, type 8 |
| GARD:18668 |
Generalized epilepsy with febrile seizures plus, type 9 |
| GARD:18641 |
Generalized epilepsy with febrile seizures-plus |
| GARD:16704 |
Generalized epilepsy-paroxysmal dyskinesia syndrome |
| GARD:20018 |
Generalized eruptive histiocytosis |
| GARD:21736 |
Generalized eruptive keratoacanthoma |
| GARD:21087 |
Generalized essential telangiectasia |
| GARD:17393 |
Generalized galactose epimerase deficiency |
| GARD:2499 |
Generalized glucocorticoid resistance syndrome |
| GARD:21618 |
Generalized isolated dystonia |
| GARD:17508 |
Generalized juvenile polyposis/juvenile polyposis coli |
| GARD:12862 |
Generalized peeling skin syndrome |
| GARD:4552 |
Generalized pseudohypoaldosteronism type 1 |
| GARD:12819 |
Generalized pustular psoriasis |
| GARD:21482 |
Genetic 46,XX disorder of sex development |
| GARD:21483 |
Genetic 46,XY disorder of sex development |
| GARD:21484 |
Genetic 46,XY disorder of sex development of endocrine origin |
| GARD:20263 |
Genetic acrokeratoderma |
| GARD:21987 |
Genetic alopecia |
| GARD:22488 |
Genetic autoinflammatory syndrome with skin involvement |
| GARD:20006 |
Genetic biliary tract disease |
| GARD:20289 |
Genetic bone tumor |
| GARD:20301 |
Genetic branchial arch or oral-acral syndrome |
| GARD:21016 |
Genetic cardiac anomaly |
| GARD:21969 |
Genetic cardiac malformation |
| GARD:19785 |
Genetic cardiac rhythm disease |
| GARD:21013 |
Genetic cardiac tumor |
| GARD:20281 |
Genetic central nervous system and retinal vascular disease |
| GARD:20282 |
Genetic central nervous system malformation |
| GARD:21006 |
Genetic cerebellar malformation |
| GARD:21004 |
Genetic cerebral malformation |
| GARD:21960 |
Genetic cerebral small vessel disease |
| GARD:19804 |
Genetic chronic primary adrenal insufficiency |
| GARD:21922 |
Genetic complex vascular malformation with associated anomalies |
| GARD:20292 |
Genetic congenital limb malformation |
| GARD:22189 |
Genetic congenital malformation of the eye with glaucoma as a major feature |
| GARD:22176 |
Genetic corneal dystrophy |
| GARD:20294 |
Genetic cranial malformation |
| GARD:19228 |
Genetic cystic renal disease |
| GARD:20028 |
Genetic dementia |
| GARD:20272 |
Genetic dermis disorder |
| GARD:20574 |
Genetic dermis elastic tissue disorder |
| GARD:20298 |
Genetic developmental defect of the eye |
| GARD:20295 |
Genetic digestive tract malformation |
| GARD:21012 |
Genetic digestive tract tumor |
| GARD:21481 |
Genetic disorder of sex development |
| GARD:21480 |
Genetic disorder of sex development of gynecological interest |
| GARD:20012 |
Genetic endocrine growth disease |
| GARD:20265 |
Genetic epidermal appendage anomaly |
| GARD:20260 |
Genetic epidermal disorder |
| GARD:20262 |
Genetic erythrokeratoderma |
| GARD:20310 |
Genetic eye tumor |
| GARD:21740 |
Genetic facial cleft |
| GARD:21040 |
Genetic frontotemporal degeneration with dementia |
| GARD:20061 |
Genetic gastro-esophageal disease |
| GARD:20304 |
Genetic glomerular disease |
| GARD:20324 |
Genetic gynecological tumor |
| GARD:20266 |
Genetic hair anomaly |
| GARD:20303 |
Genetic head and neck malformation |
| GARD:21934 |
Genetic hemoglobinopathy |
| GARD:22330 |
Genetic hemolytic uremic syndrome |
| GARD:21617 |
Genetic hyperaldosteronism |
| GARD:20751 |
Genetic hyperferritinemia without iron overload |
| GARD:20408 |
Genetic hyperparathyroidism |
| GARD:20270 |
Genetic hyperpigmentation of the skin |
| GARD:20407 |
Genetic hypoparathyroidism |
| GARD:20271 |
Genetic hypopigmentation of the skin |
| GARD:20278 |
Genetic immune deficiency with skin involvement |
| GARD:21021 |
Genetic infertility |
| GARD:22020 |
Genetic inflammatory or rheumatoid-like osteoarthropathy |
| GARD:20944 |
Genetic interstitial lung disease |
| GARD:20060 |
Genetic intestinal disease |
| GARD:21547 |
Genetic intestinal disease due to fat malabsorption |
| GARD:21548 |
Genetic intestinal polyposis |
| GARD:21546 |
Genetic intractable diarrhea of infancy |
| GARD:21811 |
Genetic larynx anomaly |
| GARD:20308 |
Genetic lens and zonula anomaly |
| GARD:21947 |
Genetic lethal multiple congenital anomalies/dysmorphic syndrome |
| GARD:12597 |
Genetic lipodystrophy |
| GARD:20302 |
Genetic malformation syndrome with odontal and/or periodontal component |
| GARD:20299 |
Genetic malformation syndrome with short stature |
| GARD:20274 |
Genetic mixed dermis disorder |
| GARD:19478 |
Genetic motor neuron disease |
| GARD:20291 |
Genetic multiple congenital anomalies/dysmorphic syndrome |
| GARD:21507 |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability |
| GARD:22441 |
Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability |
| GARD:20267 |
Genetic nail anomaly |
| GARD:22265 |
Genetic nephrotic syndrome |
| GARD:20309 |
Genetic neuro-ophthalmological disease |
| GARD:20280 |
Genetic neurodegenerative disease |
| GARD:21039 |
Genetic neurodegenerative disease with dementia |
| GARD:21015 |
Genetic neuroendocrine tumor |
| GARD:19568 |
Genetic neurological channelopathy of the central nervous system |
| GARD:19562 |
Genetic neurological muscular channelopathy |
| GARD:20279 |
Genetic neuromuscular disease |
| GARD:19475 |
Genetic neuromuscular junction disease |
| GARD:21614 |
Genetic neurovascular malformation |
| GARD:21992 |
Genetic non-acquired premature ovarian failure |
| GARD:21003 |
Genetic non-syndromic central nervous system malformation |
| GARD:19439 |
Genetic non-syndromic obesity |
| GARD:21540 |
Genetic non-syndromic renal or urinary tract malformation |
| GARD:21810 |
Genetic nose and cavum anomaly |
| GARD:18935 |
Genetic obesity |
| GARD:21935 |
Genetic otorhinolaryngologic disease |
| GARD:21809 |
Genetic otorhinolaryngological malformation |
| GARD:20300 |
Genetic overgrowth/obesity syndrome |
| GARD:20062 |
Genetic pancreatic disease |
| GARD:20005 |
Genetic parenchymatous liver disease |
| GARD:21613 |
Genetic periodic paralysis |
| GARD:10711 |
Genetic peripheral neuropathy |
| GARD:20277 |
Genetic photodermatosis |
| GARD:20269 |
Genetic pigmentation anomaly of the skin |
| GARD:20682 |
Genetic polycythemia |
| GARD:20317 |
Genetic polyendocrinopathy |
| GARD:20264 |
Genetic porokeratosis |
| GARD:21005 |
Genetic posterior fossa malformation |
| GARD:21806 |
Genetic precocious puberty |
| GARD:21808 |
Genetic precocious puberty in female |
| GARD:22140 |
Genetic primary orthostatic disorder |
| GARD:21878 |
Genetic primary orthostatic hypotension |
| GARD:21543 |
Genetic progeroid syndrome |
| GARD:16916 |
Genetic recurrent myoglobinuria |
| GARD:20293 |
Genetic renal or urinary tract malformation |
| GARD:20306 |
Genetic renal tubular disease |
| GARD:20307 |
Genetic renal tumor |
| GARD:20311 |
Genetic respiratory malformation |
| GARD:20297 |
Genetic respiratory or mediastinal malformation |
| GARD:20268 |
Genetic sebaceous gland anomaly |
| GARD:20358 |
Genetic skeletal muscle disease |
| GARD:20276 |
Genetic skin tumor or hamartoma |
| GARD:20273 |
Genetic skin vascular disorder |
| GARD:21011 |
Genetic soft tissue tumor |
| GARD:3946 |
Genetic steroid-resistant nephrotic syndrome |
| GARD:20275 |
Genetic subcutaneous tissue disorder |
| GARD:22177 |
Genetic superficial corneal dystrophy |
| GARD:20322 |
Genetic susceptibility to infections due to particular pathogens |
| GARD:21009 |
Genetic syndrome with a Dandy-Walker malformation as a major feature |
| GARD:21007 |
Genetic syndrome with a central nervous system malformation as a major feature |
| GARD:21008 |
Genetic syndrome with a cerebellar malformation as a major feature |
| GARD:21010 |
Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature |
| GARD:21728 |
Genetic syndrome with limb malformations as a major feature |
| GARD:21727 |
Genetic syndrome with limb reduction defects |
| GARD:21545 |
Genetic syndromic Pierre Robin syndrome |
| GARD:21616 |
Genetic syndromic esophageal malformation |
| GARD:22290 |
Genetic systemic disease with glomerulopathy as a major feature |
| GARD:20305 |
Genetic thrombotic microangiopathy |
| GARD:21812 |
Genetic tracheal anomaly |
| GARD:20564 |
Genetic transient congenital hypothyroidism |
| GARD:21434 |
Genetic tumor of hematopoietic and lymphoid tissues |
| GARD:20009 |
Genetic urogenital tract malformation |
| GARD:21014 |
Genetic urogenital tumor |
| GARD:20258 |
Genetic urticaria |
| GARD:20459 |
Genetic vascular anomaly |
| GARD:20296 |
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen |
| GARD:2460 |
Genitopalatocardiac syndrome |
| GARD:10994 |
Genitopatellar syndrome |
| GARD:16741 |
Genochondromatosis type 1 |
| GARD:16820 |
Genochondromatosis type 2 |
| GARD:18797 |
Germ cell tumor |
| GARD:13047 |
Germ cell tumor of testis |
| GARD:2462 |
German syndrome |
| GARD:19162 |
Germinoma of the central nervous system |
| GARD:413 |
Geroderma osteodysplastica |
| GARD:8660 |
Gerstmann syndrome |
| GARD:7690 |
Gerstmann-Straussler-Scheinker syndrome |
| GARD:19712 |
Gestational choriocarcinoma |
| GARD:20748 |
Gestational trophoblastic disease |
| GARD:6498 |
Gestational trophoblastic neoplasm |
| GARD:10297 |
Ghosal hematodiaphyseal dysplasia |
| GARD:20206 |
Giant adenofibroma of the breast |
| GARD:6500 |
Giant axonal neuropathy |
| GARD:9615 |
Giant cell arteritis |
| GARD:20705 |
Giant cell glioblastoma |
| GARD:13046 |
Giant cell tumor of bone |
| GARD:15223 |
Gillessen-kaesbach-nishimura syndrome |
| GARD:10528 |
Gingival fibromatosis-facial dysmorphism syndrome |
| GARD:2324 |
Gingival fibromatosis-hypertrichosis syndrome |
| GARD:3056 |
Gingival fibromatosis-progressive deafness syndrome |
| GARD:15106 |
Gist-plus syndrome |
| GARD:8547 |
Gitelman syndrome |
| GARD:22486 |
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation |
| GARD:2478 |
Glanzmann thrombasthenia |
| GARD:15240 |
Glanzmann thrombasthenia 1 |
| GARD:16439 |
Glanzmann thrombasthenia 2 |
| GARD:20500 |
Glassy cell carcinoma of the cervix uteri |
| GARD:9485 |
Glaucoma 1, open angle, a |
| GARD:18228 |
Glaucoma 1, open angle, j |
| GARD:18229 |
Glaucoma 1, open angle, k |
| GARD:18230 |
Glaucoma 1, open angle, m |
| GARD:18231 |
Glaucoma 1, open angle, n |
| GARD:18224 |
Glaucoma 3, primary congenital, a |
| GARD:18225 |
Glaucoma 3, primary congenital, c |
| GARD:18226 |
Glaucoma 3, primary congenital, d |
| GARD:18227 |
Glaucoma 3, primary congenital, e |
| GARD:2490 |
Glaucoma 3, primary infantile, b |
| GARD:10942 |
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea |
| GARD:2452 |
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome |
| GARD:2483 |
Glaucoma-sleep apnea syndrome |
| GARD:6513 |
Glial tumor |
| GARD:20713 |
Glial tumor of neuroepithelial tissue with unknown origin |
| GARD:2491 |
Glioblastoma |
| GARD:20989 |
Glioependymal/ependymal cyst |
| GARD:6514 |
Gliomatosis cerebri |
| GARD:5653 |
Gliosarcoma |
| GARD:20997 |
Global cerebellar malformation |
| GARD:16477 |
Global developmental delay with or without impaired intellectual development |
| GARD:18541 |
Global developmental delay with speech and behavioral abnormalities |
| GARD:17987 |
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome |
| GARD:17676 |
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome |
| GARD:17893 |
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome |
| GARD:18919 |
Global developmental delay-osteopenia-ectodermal defect syndrome |
| GARD:17871 |
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome |
| GARD:12736 |
Glomerular disease |
| GARD:9268 |
Glomerulopathy with fibronectin deposits 1 |
| GARD:9914 |
Glomerulopathy with fibronectin deposits 2 |
| GARD:21626 |
Glomus tumor |
| GARD:16728 |
Glomuvenous malformation |
| GARD:19954 |
Glossopalatine ankylosis |
| GARD:6519 |
Glossopharyngeal neuralgia |
| GARD:2496 |
Glucagonoma |
| GARD:15412 |
Glucocorticoid deficiency 2 |
| GARD:15450 |
Glucocorticoid deficiency 3 |
| GARD:15840 |
Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency |
| GARD:16257 |
Glucocorticoid deficiency 5 |
| GARD:18956 |
Gluconeogenesis disorder |
| GARD:18957 |
Glucose transport disorder |
| GARD:6521 |
Glucose-galactose malabsorption |
| GARD:16631 |
Glutamate-cysteine ligase deficiency |
| GARD:12469 |
Glutaric acidemia type 3 |
| GARD:6522 |
Glutaryl-CoA dehydrogenase deficiency |
| GARD:10047 |
Glutathione synthetase deficiency |
| GARD:17330 |
Glutathione synthetase deficiency with 5-oxoprolinuria |
| GARD:17331 |
Glutathione synthetase deficiency without 5-oxoprolinuria |
| GARD:21311 |
Glycerol kinase deficiency |
| GARD:17317 |
Glycerol kinase deficiency, adult form |
| GARD:17316 |
Glycerol kinase deficiency, juvenile form |
| GARD:7219 |
Glycine encephalopathy |
| GARD:18973 |
Glycogen storage disease |
| GARD:9730 |
Glycogen storage disease due to LAMP-2 deficiency |
| GARD:5714 |
Glycogen storage disease due to acid maltase deficiency |
| GARD:21310 |
Glycogen storage disease due to acid maltase deficiency, infantile onset |
| GARD:21746 |
Glycogen storage disease due to acid maltase deficiency, late-onset |
| GARD:600 |
Glycogen storage disease due to aldolase A deficiency |
| GARD:16523 |
Glycogen storage disease due to glucose-6-phosphatase deficiency |
| GARD:7864 |
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia |
| GARD:2515 |
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib |
| GARD:2520 |
Glycogen storage disease due to glycogen branching enzyme deficiency |
| GARD:17400 |
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form |
| GARD:17398 |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form |
| GARD:17399 |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form |
| GARD:17397 |
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form |
| GARD:17396 |
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form |
| GARD:17395 |
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form |
| GARD:17394 |
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form |
| GARD:9442 |
Glycogen storage disease due to glycogen debranching enzyme deficiency |
| GARD:21309 |
Glycogen storage disease due to glycogen synthase deficiency |
| GARD:2513 |
Glycogen storage disease due to hepatic glycogen synthase deficiency |
| GARD:3161 |
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency |
| GARD:3160 |
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| GARD:3159 |
Glycogen storage disease due to lactate dehydrogenase deficiency |
| GARD:16711 |
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency |
| GARD:6529 |
Glycogen storage disease due to liver glycogen phosphorylase deficiency |
| GARD:17261 |
Glycogen storage disease due to liver phosphorylase kinase deficiency |
| GARD:10760 |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| GARD:2125 |
Glycogen storage disease due to muscle beta-enolase deficiency |
| GARD:6528 |
Glycogen storage disease due to muscle glycogen phosphorylase deficiency |
| GARD:5686 |
Glycogen storage disease due to muscle phosphofructokinase deficiency |
| GARD:3858 |
Glycogen storage disease due to muscle phosphorylase kinase deficiency |
| GARD:7389 |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency |
| GARD:9964 |
Glycogen storage disease due to phosphoglycerate mutase deficiency |
| GARD:18691 |
Glycogen storage disease due to phosphorylase kinase deficiency |
| GARD:15173 |
Glycogen storage disease ic |
| GARD:18386 |
Glycogen storage disease ixa1 |
| GARD:18387 |
Glycogen storage disease ixc |
| GARD:20519 |
Glycogen storage disease with hypertrophic cardiomyopathy |
| GARD:17254 |
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency |
| GARD:10670 |
Glycoproteinosis |
| GARD:18353 |
Glycosylphosphatidylinositol biosynthesis defect 11 |
| GARD:22577 |
Glycosylphosphatidylinositol biosynthesis defect 16 |
| GARD:8698 |
Gnathodiaphyseal dysplasia |
| GARD:10414 |
Goblet cell carcinoma |
| GARD:9849 |
Goldberg-Shprintzen megacolon syndrome |
| GARD:10781 |
Goldmann-Favre syndrome |
| GARD:2285 |
Gollop-Wolfgang complex |
| GARD:19408 |
Gonadal dysgenesis of gynecological interest |
| GARD:21554 |
Gonadal germ cell tumor |
| GARD:17100 |
Gonadoblastoma |
| GARD:2546 |
Gonococcal conjunctivitis |
| GARD:8622 |
Good syndrome |
| GARD:2549 |
Goodman syndrome |
| GARD:2553 |
Gordon syndrome |
| GARD:6542 |
Gorham-Stout disease |
| GARD:7166 |
Gorlin syndrome |
| GARD:66 |
Gorlin-Chaudhry-Moss syndrome |
| GARD:16642 |
Graft versus host disease |
| GARD:3195 |
Graham Little-Piccardi-Lassueur syndrome |
| GARD:16697 |
Grange syndrome |
| GARD:2559 |
Grant syndrome |
| GARD:9677 |
Granular corneal dystrophy type I |
| GARD:9278 |
Granular corneal dystrophy type II |
| GARD:22442 |
Granuloma faciale |
| GARD:7880 |
Granulomatosis with polyangiitis |
| GARD:21455 |
Granulomatous autoinflammatory syndrome |
| GARD:21460 |
Granulomatous autoinflammatory syndrome of childhood |
| GARD:15176 |
Granulomatous disease, chronic, autosomal recessive, 1 |
| GARD:15177 |
Granulomatous disease, chronic, autosomal recessive, 2 |
| GARD:15736 |
Granulomatous disease, chronic, autosomal recessive, 3 |
| GARD:15175 |
Granulomatous disease, chronic, autosomal recessive, 4 |
| GARD:16395 |
Granulomatous disease, chronic, autosomal recessive, 5 |
| GARD:15294 |
Granulomatous disease, chronic, x-linked |
| GARD:18863 |
Granulomatous mastitis |
| GARD:10986 |
Granulomatous slack skin |
| GARD:2562 |
Gray platelet syndrome |
| GARD:21167 |
Grayson-Wilbrandt corneal dystrophy |
| GARD:8754 |
Greenberg dysplasia |
| GARD:6550 |
Greig cephalopolysyndactyly syndrome |
| GARD:10913 |
Griscelli syndrome |
| GARD:2566 |
Griscelli syndrome type 1 |
| GARD:4483 |
Griscelli syndrome type 2 |
| GARD:9715 |
Griscelli syndrome type 3 |
| GARD:21380 |
Growing teratoma syndrome |
| GARD:17615 |
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
| GARD:10609 |
Growth delay due to insulin-like growth factor I resistance |
| GARD:10627 |
Growth delay due to insulin-like growth factor type 1 deficiency |
| GARD:2427 |
Growth delay-hydrocephaly-lung hypoplasia syndrome |
| GARD:17980 |
Growth delay-intellectual disability-hepatopathy syndrome |
| GARD:3924 |
Growth hormone insensitivity syndrome |
| GARD:18311 |
Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive |
| GARD:18312 |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant |
| GARD:21621 |
Growth retardation-mild developmental delay-chronic hepatitis syndrome |
| GARD:2576 |
Grubben-de Cock-Borghgraef syndrome |
| GARD:2578 |
Guanidinoacetate methyltransferase deficiency |
| GARD:6554 |
Guillain-Barré syndrome |
| GARD:18211 |
Guillain-barre syndrome, familial |
| GARD:4470 |
Guttmacher syndrome |
| GARD:9665 |
Gynandroblastoma |
| GARD:6556 |
Gyrate atrophy of choroid and retina |
| GARD:229 |
Gómez-López-Hernández syndrome |
| GARD:10239 |
H syndrome |
| GARD:10889 |
HANAC syndrome |
| GARD:2620 |
HEC syndrome |
| GARD:8528 |
HELLP syndrome |
| GARD:22310 |
HHV-8-associated multicentric Castleman disease |
| GARD:21857 |
HIV-associated cancer |
| GARD:10221 |
HNF1B-related autosomal dominant tubulointerstitial kidney disease |
| GARD:12531 |
HNRNPDL-related limb-girdle muscular dystrophy D3 |
| GARD:10716 |
HSD10 disease |
| GARD:16749 |
HSD10 disease, atypical type |
| GARD:17622 |
HSD10 disease, infantile type |
| GARD:17623 |
HSD10 disease, neonatal type |
| GARD:17877 |
HTRA1-related autosomal dominant cerebral small vessel disease |
| GARD:21988 |
HTRA1-related cerebral small vessel disease |
| GARD:16909 |
Haddad syndrome |
| GARD:44 |
Haim-Munk syndrome |
| GARD:18994 |
Hair anomaly |
| GARD:21249 |
Hairy cell leukemia variant |
| GARD:508 |
Hajdu-Cheney syndrome |
| GARD:2586 |
Hall-Riggs syndrome |
| GARD:288 |
Hallermann-Streiff syndrome |
| GARD:290 |
Hallermann-Streiff-like syndrome |
| GARD:3118 |
Hallux varus-preaxial polysyndactyly syndrome |
| GARD:19240 |
Hamel cerebro-palato-cardiac syndrome |
| GARD:2594 |
Hand-foot-genital syndrome |
| GARD:69 |
Hantavirus pulmonary syndrome |
| GARD:6568 |
Harlequin ichthyosis |
| GARD:8610 |
Harlequin syndrome |
| GARD:2601 |
Harrod syndrome |
| GARD:6569 |
Hartnup disease |
| GARD:2725 |
Hartsfield syndrome |
| GARD:5668 |
Hawkinsinuria |
| GARD:16992 |
Hb Bart's hydrops fetalis |
| GARD:18788 |
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome |
| GARD:4166 |
Heart defect-tongue hamartoma-polysyndactyly syndrome |
| GARD:2613 |
Heart defects-limb shortening syndrome |
| GARD:19550 |
Heart position anomaly |
| GARD:20573 |
Heart-hand syndrome |
| GARD:9847 |
Heart-hand syndrome type 2 |
| GARD:2614 |
Heart-hand syndrome type 3 |
| GARD:9846 |
Heart-hand syndrome, Slovenian type |
| GARD:19222 |
Heavy chain deposition disease |
| GARD:19074 |
Heavy chain disease |
| GARD:16144 |
Heimler syndrome 2 |
| GARD:19714 |
Heiner syndrome |
| GARD:16757 |
Helicoid peripapillary chorioretinal degeneration |
| GARD:8232 |
Hemangioblastoma |
| GARD:2627 |
Hemangiopericytoma, malignant |
| GARD:20419 |
Hematological disease associated with an acquired peripheral neuropathy |
| GARD:19231 |
Hematological disorder with renal involvement |
| GARD:17995 |
Heme oxygenase-1 deficiency |
| GARD:10795 |
Hemicrania continua |
| GARD:21273 |
Hemidystonia-hemiatrophy syndrome |
| GARD:16971 |
Hemifacial hyperplasia |
| GARD:10084 |
Hemifacial myohyperplasia |
| GARD:17137 |
Hemifacial spasm |
| GARD:21051 |
Hemihyperplasia-multiple lipomatosis syndrome |
| GARD:2637 |
Hemimegalencephaly |
| GARD:18761 |
Hemimelia |
| GARD:21262 |
Hemiparkinsonism-hemiatrophy syndrome |
| GARD:10092 |
Hemochromatosis type 2 |
| GARD:10093 |
Hemochromatosis type 3 |
| GARD:10094 |
Hemochromatosis type 4 |
| GARD:15647 |
Hemochromatosis, type 2b |
| GARD:2640 |
Hemoglobin C disease |
| GARD:20608 |
Hemoglobin C-beta-thalassemia syndrome |
| GARD:19103 |
Hemoglobin D disease |
| GARD:2641 |
Hemoglobin E disease |
| GARD:20609 |
Hemoglobin E-beta-thalassemia syndrome |
| GARD:16829 |
Hemoglobin H disease |
| GARD:21505 |
Hemoglobin Lepore-beta-thalassemia syndrome |
| GARD:13007 |
Hemoglobin M disease |
| GARD:18883 |
Hemoglobinopathy |
| GARD:17297 |
Hemoglobinopathy Toms River |
| GARD:19460 |
Hemolytic anemia due to a disorder of glycolytic enzymes |
| GARD:16760 |
Hemolytic anemia due to adenylate kinase deficiency |
| GARD:19461 |
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder |
| GARD:1874 |
Hemolytic anemia due to diphosphoglycerate mutase deficiency |
| GARD:19669 |
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction |
| GARD:16541 |
Hemolytic anemia due to glucophosphate isomerase deficiency |
| GARD:16784 |
Hemolytic anemia due to glutathione reductase deficiency |
| GARD:18089 |
Hemolytic anemia due to glutathione reductase deficiency |
| GARD:19459 |
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies |
| GARD:16635 |
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| GARD:7514 |
Hemolytic anemia due to red cell pyruvate kinase deficiency |
| GARD:15179 |
Hemolytic anemia with thermal sensitivity of red cells |
| GARD:21037 |
Hemolytic disease due to fetomaternal alloimmunization |
| GARD:21038 |
Hemolytic disease of the newborn with Kell alloimmunization |
| GARD:22233 |
Hemolytic uremic syndrome |
| GARD:17543 |
Hemolytic uremic syndrome with DGKE deficiency |
| GARD:18550 |
Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
| GARD:18552 |
Hemolytic uremic syndrome, atypical, susceptibility to, 2 |
| GARD:18553 |
Hemolytic uremic syndrome, atypical, susceptibility to, 3 |
| GARD:18554 |
Hemolytic uremic syndrome, atypical, susceptibility to, 4 |
| GARD:18555 |
Hemolytic uremic syndrome, atypical, susceptibility to, 5 |
| GARD:18556 |
Hemolytic uremic syndrome, atypical, susceptibility to, 6 |
| GARD:9922 |
Hemophagocytic lymphohistiocytosis, familial, 2 |
| GARD:9928 |
Hemophagocytic lymphohistiocytosis, familial, 3 |
| GARD:9929 |
Hemophagocytic lymphohistiocytosis, familial, 4 |
| GARD:15614 |
Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease |
| GARD:20024 |
Hemophagocytic syndrome |
| GARD:7857 |
Hemophagocytic syndrome associated with an infection |
| GARD:10418 |
Hemophilia |
| GARD:6591 |
Hemophilia A |
| GARD:8732 |
Hemophilia B |
| GARD:22455 |
Hemophilia B Leyden |
| GARD:20148 |
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation |
| GARD:18689 |
Hemorrhagic fever-renal syndrome |
| GARD:15180 |
Hemosiderosis, pulmonary, with deficiency of gamma-a globulin |
| GARD:21448 |
Hendra virus infection |
| GARD:15181 |
Hennekam lymphangiectasia-lymphedema syndrome 1 |
| GARD:16047 |
Hennekam lymphangiectasia-lymphedema syndrome 2 |
| GARD:16296 |
Hennekam lymphangiectasia-lymphedema syndrome 3 |
| GARD:3318 |
Hennekam syndrome |
| GARD:3409 |
Hennekam-Beemer syndrome |
| GARD:2650 |
Heparin-induced thrombocytopenia |
| GARD:2651 |
Hepatic cystic hamartoma |
| GARD:5177 |
Hepatic fibrosis-renal cysts-intellectual disability syndrome |
| GARD:13004 |
Hepatic veno-occlusive disease |
| GARD:10083 |
Hepatic veno-occlusive disease-immunodeficiency syndrome |
| GARD:19117 |
Hepatitis B reinfection following liver transplantation |
| GARD:21716 |
Hepatitis delta |
| GARD:2657 |
Hepatoblastoma |
| GARD:18847 |
Hepatocellular adenoma |
| GARD:16773 |
Hepatocellular carcinoma |
| GARD:16949 |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| GARD:6169 |
Hepatoerythropoietic porphyria |
| GARD:18865 |
Hepatoportal sclerosis |
| GARD:19077 |
Hepatosplenic T-cell lymphoma |
| GARD:21017 |
Hereditary ATTR amyloidosis |
| GARD:17037 |
Hereditary North American Indian childhood cirrhosis |
| GARD:18781 |
Hereditary acrokeratotic poikiloderma |
| GARD:6611 |
Hereditary amyloidosis |
| GARD:8282 |
Hereditary amyloidosis with primary renal involvement |
| GARD:5979 |
Hereditary angioedema |
| GARD:16933 |
Hereditary angioedema type 1 |
| GARD:16934 |
Hereditary angioedema type 2 |
| GARD:22194 |
Hereditary angioedema with C1Inh deficiency |
| GARD:22195 |
Hereditary angioedema with normal C1Inh |
| GARD:22406 |
Hereditary angioedema with normal C1Inh not related to F12 or PLG variant |
| GARD:10762 |
Hereditary arterial and articular multiple calcification syndrome |
| GARD:17524 |
Hereditary benign intraepithelial dyskeratosis |
| GARD:15010 |
Hereditary breast and ovarian cancer syndrome |
| GARD:17142 |
Hereditary breast cancer |
| GARD:1038 |
Hereditary bullous dystrophy, macular type |
| GARD:16629 |
Hereditary central diabetes insipidus |
| GARD:10266 |
Hereditary cerebral hemorrhage with amyloidosis |
| GARD:6632 |
Hereditary chronic pancreatitis |
| GARD:9571 |
Hereditary clear cell renal cell carcinoma |
| GARD:16856 |
Hereditary combined deficiency of vitamin K-dependent clotting factors |
| GARD:1512 |
Hereditary continuous muscle fiber activity |
| GARD:6619 |
Hereditary coproporphyria |
| GARD:10184 |
Hereditary cryohydrocytosis with normal stomatin |
| GARD:17036 |
Hereditary cryohydrocytosis with reduced stomatin |
| GARD:20094 |
Hereditary dentin defect |
| GARD:10900 |
Hereditary diffuse gastric cancer |
| GARD:10981 |
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia |
| GARD:6621 |
Hereditary elliptocytosis |
| GARD:20457 |
Hereditary episodic ataxia |
| GARD:13218 |
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome |
| GARD:12983 |
Hereditary folate malabsorption |
| GARD:6622 |
Hereditary fructose intolerance |
| GARD:21758 |
Hereditary gastric cancer |
| GARD:9501 |
Hereditary geniospasm |
| GARD:16582 |
Hereditary gingival fibromatosis |
| GARD:6626 |
Hereditary hemorrhagic telangiectasia |
| GARD:17090 |
Hereditary hypercarotenemia and vitamin A deficiency |
| GARD:3129 |
Hereditary hyperekplexia |
| GARD:2806 |
Hereditary hyperferritinemia-cataract syndrome |
| GARD:16977 |
Hereditary hypophosphatemic rickets with hypercalciuria |
| GARD:17124 |
Hereditary hypotrichosis with recurrent skin vesicles |
| GARD:21440 |
Hereditary inclusion body myopathy type 4 |
| GARD:9494 |
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome |
| GARD:17635 |
Hereditary isolated aplastic anemia |
| GARD:17684 |
Hereditary late-onset Parkinson disease |
| GARD:10096 |
Hereditary leiomyomatosis and renal cell cancer |
| GARD:2659 |
Hereditary methemoglobinemia |
| GARD:16981 |
Hereditary mixed polyposis syndrome |
| GARD:9208 |
Hereditary motor and sensory neuropathy type 5 |
| GARD:16787 |
Hereditary motor and sensory neuropathy type 6 |
| GARD:19124 |
Hereditary motor and sensory neuropathy with acrodystrophy |
| GARD:10131 |
Hereditary motor and sensory neuropathy, Okinawa type |
| GARD:5427 |
Hereditary mucoepithelial dysplasia |
| GARD:12591 |
Hereditary myopathy with early respiratory failure |
| GARD:16643 |
Hereditary myopathy with lactic acidosis due to ISCU deficiency |
| GARD:676 |
Hereditary neurocutaneous malformation |
| GARD:21899 |
Hereditary neuroendocrine tumor of small intestine |
| GARD:5221 |
Hereditary neuropathy with liability to pressure palsies |
| GARD:17287 |
Hereditary neutrophilia |
| GARD:8533 |
Hereditary nonpolyposis colon cancer |
| GARD:19540 |
Hereditary optic neuropathy |
| GARD:5429 |
Hereditary orotic aciduria |
| GARD:16705 |
Hereditary painful callosities |
| GARD:18988 |
Hereditary palmoplantar keratoderma |
| GARD:16767 |
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type |
| GARD:13157 |
Hereditary papillary renal cell carcinoma |
| GARD:17848 |
Hereditary pediatric Behçet-like disease |
| GARD:21453 |
Hereditary periodic fever syndrome |
| GARD:18647 |
Hereditary persistence of alpha-fetoprotein |
| GARD:18642 |
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome |
| GARD:22458 |
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome |
| GARD:18648 |
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome |
| GARD:11984 |
Hereditary pheochromocytoma-paraganglioma |
| GARD:20545 |
Hereditary poikiloderma |
| GARD:16989 |
Hereditary progressive mucinous histiocytosis |
| GARD:4582 |
Hereditary pulmonary alveolar proteinosis |
| GARD:9496 |
Hereditary renal hypouricemia |
| GARD:17544 |
Hereditary retinoblastoma |
| GARD:17136 |
Hereditary sclerosing poikiloderma, Weary type |
| GARD:11010 |
Hereditary sensorimotor neuropathy with hyperelastic skin |
| GARD:12688 |
Hereditary sensory and autonomic neuropathy |
| GARD:13568 |
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation |
| GARD:6635 |
Hereditary sensory and autonomic neuropathy type 1 |
| GARD:16958 |
Hereditary sensory and autonomic neuropathy type 1B |
| GARD:3976 |
Hereditary sensory and autonomic neuropathy type 2 |
| GARD:3006 |
Hereditary sensory and autonomic neuropathy type 4 |
| GARD:12328 |
Hereditary sensory and autonomic neuropathy type 5 |
| GARD:12987 |
Hereditary sensory and autonomic neuropathy type 6 |
| GARD:12732 |
Hereditary sensory and autonomic neuropathy type 7 |
| GARD:17866 |
Hereditary sensory and autonomic neuropathy type 8 |
| GARD:19920 |
Hereditary sensory and autonomic neuropathy with deafness and global delay |
| GARD:11927 |
Hereditary sensory neuropathy-deafness-dementia syndrome |
| GARD:20468 |
Hereditary site-specific ovarian cancer syndrome |
| GARD:6637 |
Hereditary spastic paraplegia |
| GARD:6639 |
Hereditary spherocytosis |
| GARD:19456 |
Hereditary stomatocytosis |
| GARD:16731 |
Hereditary thermosensitive neuropathy |
| GARD:17870 |
Hereditary thrombocytopenia with early-onset myelofibrosis |
| GARD:17267 |
Hereditary thrombocytopenia with normal platelets |
| GARD:6148 |
Hereditary thrombophilia due to congenital antithrombin deficiency |
| GARD:17125 |
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency |
| GARD:16628 |
Hereditary xanthinuria |
| GARD:11914 |
Heritable pulmonary arterial hypertension |
| GARD:6643 |
Hermansky-Pudlak syndrome |
| GARD:15026 |
Hermansky-Pudlak syndrome due to AP-3 deficiency |
| GARD:17170 |
Hermansky-Pudlak syndrome due to BLOC-1 deficiency |
| GARD:17169 |
Hermansky-Pudlak syndrome due to BLOC-2 deficiency |
| GARD:17168 |
Hermansky-Pudlak syndrome due to BLOC-3 deficiency |
| GARD:18331 |
Hermansky-pudlak syndrome 1 |
| GARD:16180 |
Hermansky-pudlak syndrome 10 |
| GARD:18339 |
Hermansky-pudlak syndrome 11 |
| GARD:9435 |
Hermansky-pudlak syndrome 2 |
| GARD:18333 |
Hermansky-pudlak syndrome 3 |
| GARD:18332 |
Hermansky-pudlak syndrome 4 |
| GARD:18334 |
Hermansky-pudlak syndrome 5 |
| GARD:18335 |
Hermansky-pudlak syndrome 6 |
| GARD:18336 |
Hermansky-pudlak syndrome 7 |
| GARD:18337 |
Hermansky-pudlak syndrome 8 |
| GARD:18338 |
Hermansky-pudlak syndrome 9 |
| GARD:15295 |
Hernia, anterior diaphragmatic |
| GARD:3491 |
Hernández-Aguirre Negrete syndrome |
| GARD:6649 |
Herpes simplex virus encephalitis |
| GARD:19879 |
Herpes simplex virus stromal keratitis |
| GARD:20406 |
Herpetiform pemphigus |
| GARD:10875 |
Heterotaxia |
| GARD:2056 |
Hidrotic ectodermal dysplasia |
| GARD:2682 |
Hidrotic ectodermal dysplasia, Christianson-Fourie type |
| GARD:280 |
Hidrotic ectodermal dysplasia, Halal type |
| GARD:21502 |
High altitude pulmonary edema |
| GARD:21366 |
High bone mass osteogenesis imperfecta |
| GARD:21980 |
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement |
| GARD:12844 |
High myopia-sensorineural deafness syndrome |
| GARD:20704 |
High-grade astrocytoma |
| GARD:20598 |
High-grade dysplasia in patients with Barrett esophagus |
| GARD:20489 |
High-grade neuroendocrine carcinoma of the cervix uteri |
| GARD:20482 |
High-grade neuroendocrine carcinoma of the corpus uteri |
| GARD:19047 |
Hinman syndrome |
| GARD:2690 |
Hip dysplasia, Beukes type |
| GARD:6660 |
Hirschsprung disease |
| GARD:15076 |
Hirschsprung disease, susceptibility to, 1 |
| GARD:15315 |
Hirschsprung disease, susceptibility to, 2 |
| GARD:15696 |
Hirschsprung disease, susceptibility to, 3 |
| GARD:15697 |
Hirschsprung disease, susceptibility to, 4 |
| GARD:15316 |
Hirschsprung disease, susceptibility to, 5 |
| GARD:15402 |
Hirschsprung disease, susceptibility to, 6 |
| GARD:15403 |
Hirschsprung disease, susceptibility to, 7 |
| GARD:15432 |
Hirschsprung disease, susceptibility to, 8 |
| GARD:15525 |
Hirschsprung disease, susceptibility to, 9 |
| GARD:157 |
Hirschsprung disease-deafness-polydactyly syndrome |
| GARD:2695 |
Hirschsprung disease-ganglioneuroblastoma syndrome |
| GARD:584 |
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome |
| GARD:2700 |
Hirschsprung disease-type D brachydactyly syndrome |
| GARD:2706 |
His bundle tachycardia |
| GARD:6661 |
Histidinemia |
| GARD:2708 |
Histidinuria-renal tubular defect syndrome |
| GARD:19441 |
Histiocytic and dendritic cell tumor |
| GARD:19080 |
Histiocytic sarcoma |
| GARD:9511 |
Histiocytoid cardiomyopathy |
| GARD:18692 |
Histoplasmosis |
| GARD:2714 |
Hodgkin lymphoma |
| GARD:5749 |
Holmes-Adie syndrome |
| GARD:2721 |
Holocarboxylase synthetase deficiency |
| GARD:6665 |
Holoprosencephaly |
| GARD:2722 |
Holoprosencephaly-caudal dysgenesis syndrome |
| GARD:2454 |
Holoprosencephaly-craniosynostosis syndrome |
| GARD:344 |
Holoprosencephaly-postaxial polydactyly syndrome |
| GARD:2727 |
Holoprosencephaly-radial heart renal anomalies syndrome |
| GARD:6666 |
Holt-Oram syndrome |
| GARD:2728 |
Holzgreve syndrome |
| GARD:2734 |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| GARD:16537 |
Homocystinuria without methylmalonic aciduria |
| GARD:21582 |
Homozygous 2p21 microdeletion syndrome |
| GARD:10416 |
Homozygous familial hypercholesterolemia |
| GARD:12682 |
Horizontal gaze palsy with progressive scoliosis |
| GARD:17028 |
Hot water reflex epilepsy |
| GARD:19703 |
House allergic alveolitis |
| GARD:346 |
Hoyeraal-Hreidarsson syndrome |
| GARD:20569 |
Hughes-Stovin syndrome |
| GARD:19830 |
Human herpesvirus 8-related disorder |
| GARD:21822 |
Human infection by orthopoxvirus |
| GARD:18851 |
Human prion disease |
| GARD:21192 |
Humeral agenesis/hypoplasia |
| GARD:2748 |
Humero-radial synostosis |
| GARD:2749 |
Humero-radio-ulnar synostosis |
| GARD:19244 |
Humero-ulnar synostosis |
| GARD:21220 |
Humero-ulnar synostosis, bilateral |
| GARD:21219 |
Humero-ulnar synostosis, unilateral |
| GARD:2750 |
Humerus trochlea aplasia |
| GARD:2754 |
Hunter-McAlpine syndrome |
| GARD:6677 |
Huntington disease |
| GARD:16985 |
Huntington disease-like 1 |
| GARD:16874 |
Huntington disease-like 2 |
| GARD:16986 |
Huntington disease-like 3 |
| GARD:20029 |
Huntington disease-like syndrome |
| GARD:21702 |
Huntington disease-like syndrome due to C9ORF72 expansions |
| GARD:8517 |
Huriez syndrome |
| GARD:12559 |
Hurler syndrome |
| GARD:12560 |
Hurler-Scheie syndrome |
| GARD:7467 |
Hutchinson-Gilford progeria syndrome |
| GARD:7148 |
Hyaline body myopathy |
| GARD:22029 |
Hyaline fibromatosis syndrome |
| GARD:16675 |
Hyaluronidase deficiency |
| GARD:10263 |
Hydatidiform mole |
| GARD:18365 |
Hydatidiform mole, recurrent, 1 |
| GARD:18366 |
Hydatidiform mole, recurrent, 2 |
| GARD:18367 |
Hydatidiform mole, recurrent, 3 |
| GARD:18368 |
Hydatidiform mole, recurrent, 4 |
| GARD:6681 |
Hydranencephaly |
| GARD:9654 |
Hydroa vacciniforme |
| GARD:21563 |
Hydroa vacciniforme-like lymphoma |
| GARD:434 |
Hydrocephalus with stenosis of the aqueduct of Sylvius |
| GARD:18090 |
Hydrocephalus, congenital communicating, 1 |
| GARD:236 |
Hydrocephalus-blue sclerae-nephropathy syndrome |
| GARD:5518 |
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome |
| GARD:2775 |
Hydrocephalus-obesity-hypogonadism syndrome |
| GARD:1200 |
Hydrocephaly-cerebellar agenesis syndrome |
| GARD:4199 |
Hydrocephaly-low insertion umbilicus syndrome |
| GARD:1666 |
Hydrocephaly-tall stature-joint laxity syndrome |
| GARD:6683 |
Hydrolethalus |
| GARD:15182 |
Hydrolethalus syndrome 1 |
| GARD:15759 |
Hydrolethalus syndrome 2 |
| GARD:2783 |
Hydrops fetalis |
| GARD:17966 |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome |
| GARD:10039 |
Hydroxykynureninuria |
| GARD:2787 |
Hymenolepiasis |
| GARD:10956 |
Hyper-IgE syndrome |
| GARD:10578 |
Hyper-IgM syndrome type 2 |
| GARD:10579 |
Hyper-IgM syndrome type 3 |
| GARD:10580 |
Hyper-IgM syndrome type 4 |
| GARD:10581 |
Hyper-IgM syndrome type 5 |
| GARD:17084 |
Hyper-IgM syndrome with susceptibility to opportunistic infections |
| GARD:17085 |
Hyper-IgM syndrome without susceptibility to opportunistic infections |
| GARD:10267 |
Hyper-beta-alaninemia |
| GARD:20230 |
Hyperalphalipoproteinemia |
| GARD:18075 |
Hyperalphalipoproteinemia 1 |
| GARD:7158 |
Hyperammonemia due to N-acetylglutamate synthase deficiency |
| GARD:13201 |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| GARD:9882 |
Hyperandrogenism due to cortisone reductase deficiency |
| GARD:17279 |
Hyperbiliverdinemia |
| GARD:18434 |
Hypercalcemia, infantile, 1 |
| GARD:18435 |
Hypercalcemia, infantile, 2 |
| GARD:18584 |
Hypercalciuria, absorptive, 1 |
| GARD:18583 |
Hypercalciuria, absorptive, 2 |
| GARD:18301 |
Hypercarotenemia and vitamin a deficiency, autosomal dominant |
| GARD:18302 |
Hypercarotenemia and vitamin a deficiency, autosomal recessive |
| GARD:18340 |
Hypercholanemia, familial 1 |
| GARD:18341 |
Hypercholanemia, familial, 2 |
| GARD:20441 |
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency |
| GARD:8588 |
Hypercholesterolemia, familial, 2 |
| GARD:18614 |
Hypercholesterolemia, familial, 4 |
| GARD:9965 |
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency |
| GARD:21955 |
Hypercontractile muscle stiffness syndrome |
| GARD:21281 |
Hyperekplexia |
| GARD:15826 |
Hyperekplexia 2 |
| GARD:15825 |
Hyperekplexia 3 |
| GARD:16284 |
Hyperekplexia 4 |
| GARD:17010 |
Hyperekplexia-epilepsy syndrome |
| GARD:2804 |
Hypereosinophilic syndrome |
| GARD:298 |
Hypergonadotropic hypogonadism-cataract syndrome |
| GARD:2788 |
Hyperimmunoglobulinemia D with periodic fever |
| GARD:21849 |
Hyperinsulinemic hypoglycaemia |
| GARD:21444 |
Hyperinsulinism due to HNF1A deficiency |
| GARD:20903 |
Hyperinsulinism due to HNF4A deficiency |
| GARD:17256 |
Hyperinsulinism due to INSR deficiency |
| GARD:21054 |
Hyperinsulinism due to UCP2 deficiency |
| GARD:2818 |
Hyperinsulinism due to glucokinase deficiency |
| GARD:9870 |
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency |
| GARD:9931 |
Hyperinsulinism-hyperammonemia syndrome |
| GARD:195 |
Hyperkalemic periodic paralysis |
| GARD:2824 |
Hyperkeratosis lenticularis perstans |
| GARD:16563 |
Hyperkeratosis-hyperpigmentation syndrome |
| GARD:12864 |
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency |
| GARD:15077 |
Hyperlipidemia, familial combined, 3 |
| GARD:2828 |
Hyperlysinemia |
| GARD:15183 |
Hyperlysinemia due to defect in lysine transport into mitochondria |
| GARD:10764 |
Hypermethioninemia due to glycine N-methyltransferase deficiency |
| GARD:17321 |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency |
| GARD:2081 |
Hypermobile Ehlers-Danlos syndrome |
| GARD:2830 |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| GARD:2833 |
Hyperostosis corticalis generalisata |
| GARD:17753 |
Hyperostosis cranialis interna |
| GARD:18253 |
Hyperparathyroidism 1 |
| GARD:18255 |
Hyperparathyroidism 3 |
| GARD:18256 |
Hyperparathyroidism 4 |
| GARD:18254 |
Hyperparathyroidism, primary, caused by water clear cell hyperplasia |
| GARD:16304 |
Hyperparathyroidism, transient neonatal |
| GARD:10829 |
Hyperparathyroidism-jaw tumor syndrome |
| GARD:21199 |
Hyperphalangy |
| GARD:17950 |
Hyperphenylalaninemia due to DNAJC12 deficiency |
| GARD:7751 |
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency |
| GARD:18349 |
Hyperphosphatasia with mental retardation syndrome 1 |
| GARD:18351 |
Hyperphosphatasia with mental retardation syndrome 2 |
| GARD:18350 |
Hyperphosphatasia with mental retardation syndrome 3 |
| GARD:18352 |
Hyperphosphatasia with mental retardation syndrome 4 |
| GARD:18354 |
Hyperphosphatasia with mental retardation syndrome 6 |
| GARD:17188 |
Hyperphosphatasia-intellectual disability syndrome |
| GARD:19004 |
Hyperpigmentation of the skin |
| GARD:18073 |
Hyperpigmentation with or without hypopigmentation, familial progressive |
| GARD:18074 |
Hyperpigmentation, familial progressive, 1 |
| GARD:2847 |
Hyperprolinemia type 1 |
| GARD:6710 |
Hyperprolinemia type 2 |
| GARD:12 |
Hypersensitivity pneumonitis |
| GARD:8240 |
Hypersensitivity pneumonitis, familial |
| GARD:287 |
Hypertelorism-hypospadias-polysyndactyly syndrome |
| GARD:897 |
Hypertelorism-microtia-facial clefting syndrome |
| GARD:17351 |
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome |
| GARD:19093 |
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor |
| GARD:143 |
Hypertrichosis cubiti |
| GARD:2865 |
Hypertrichosis lanuginosa congenita |
| GARD:21442 |
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation |
| GARD:19132 |
Hypertrophic or verrucous lupus erythematosus |
| GARD:15101 |
Hypertrophic osteoarthropathy, primary, autosomal dominant |
| GARD:15216 |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 |
| GARD:15805 |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 |
| GARD:2871 |
Hypertryptophanemia |
| GARD:17569 |
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome |
| GARD:17213 |
Hyperzincemia and hypercalprotectinemia |
| GARD:10796 |
Hypnic headache |
| GARD:3347 |
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome |
| GARD:18801 |
Hypoalphalipoproteinemia |
| GARD:18802 |
Hypobetalipoproteinemia |
| GARD:2876 |
Hypobetalipoproteinemia, familial, 1 |
| GARD:15376 |
Hypobetalipoproteinemia, familial, 2 |
| GARD:15951 |
Hypocalcemia, autosomal dominant 2 |
| GARD:21133 |
Hypocalcemic rickets |
| GARD:17319 |
Hypocalcemic vitamin D-dependent rickets |
| GARD:16805 |
Hypocalcemic vitamin D-resistant rickets |
| GARD:16931 |
Hypocalcified amelogenesis imperfecta |
| GARD:16815 |
Hypochondrogenesis |
| GARD:6724 |
Hypochondroplasia |
| GARD:6725 |
Hypocomplementemic urticarial vasculitis |
| GARD:5587 |
Hypodontia-dysplasia of nails syndrome |
| GARD:68 |
Hypoglossia-hypodactyly syndrome |
| GARD:19995 |
Hypoglossia/aglossia |
| GARD:1078 |
Hypogonadism-mitral valve prolapse-intellectual disability syndrome |
| GARD:3071 |
Hypogonadotropic hypogonadism 1 with or without anosmia |
| GARD:18600 |
Hypogonadotropic hypogonadism 10 with or without anosmia |
| GARD:15851 |
Hypogonadotropic hypogonadism 11 with or without anosmia |
| GARD:276 |
Hypogonadotropic hypogonadism 12 with or without anosmia |
| GARD:18601 |
Hypogonadotropic hypogonadism 13 with or without anosmia |
| GARD:15857 |
Hypogonadotropic hypogonadism 14 with or without anosmia |
| GARD:15872 |
Hypogonadotropic hypogonadism 15 with or without anosmia |
| GARD:15878 |
Hypogonadotropic hypogonadism 16 with or without anosmia |
| GARD:15928 |
Hypogonadotropic hypogonadism 17 with or without anosmia |
| GARD:15929 |
Hypogonadotropic hypogonadism 18 with or without anosmia |
| GARD:15931 |
Hypogonadotropic hypogonadism 19 with or without anosmia |
| GARD:3070 |
Hypogonadotropic hypogonadism 2 with or without anosmia |
| GARD:15932 |
Hypogonadotropic hypogonadism 20 with or without anosmia |
| GARD:15933 |
Hypogonadotropic hypogonadism 21 with or without anosmia |
| GARD:16050 |
Hypogonadotropic hypogonadism 22 with or without anosmia |
| GARD:16387 |
Hypogonadotropic hypogonadism 25 with anosmia |
| GARD:3073 |
Hypogonadotropic hypogonadism 3 with or without anosmia |
| GARD:10772 |
Hypogonadotropic hypogonadism 4 with or without anosmia |
| GARD:10773 |
Hypogonadotropic hypogonadism 5 with or without anosmia |
| GARD:10774 |
Hypogonadotropic hypogonadism 6 with or without anosmia |
| GARD:2897 |
Hypogonadotropic hypogonadism 7 with or without anosmia |
| GARD:15849 |
Hypogonadotropic hypogonadism 8 with or without anosmia |
| GARD:15850 |
Hypogonadotropic hypogonadism 9 with or without anosmia |
| GARD:324 |
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome |
| GARD:1234 |
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome |
| GARD:21174 |
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome |
| GARD:17967 |
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome |
| GARD:17562 |
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome |
| GARD:76 |
Hypohidrotic ectodermal dysplasia |
| GARD:9936 |
Hypohidrotic ectodermal dysplasia with immunodeficiency |
| GARD:2049 |
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome |
| GARD:17352 |
Hypoinsulinemic hypoglycemia and body hemihypertrophy |
| GARD:6729 |
Hypokalemic periodic paralysis |
| GARD:15649 |
Hypokalemic periodic paralysis, type 2 |
| GARD:2907 |
Hypomandibular faciocranial dysostosis |
| GARD:8349 |
Hypomaturation amelogenesis imperfecta |
| GARD:16932 |
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism |
| GARD:16948 |
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome |
| GARD:16604 |
Hypomyelination neuropathy-arthrogryposis syndrome |
| GARD:22405 |
Hypomyelination of early myelinating structures |
| GARD:10917 |
Hypomyelination with atrophy of basal ganglia and cerebellum |
| GARD:17554 |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity |
| GARD:17773 |
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome |
| GARD:11980 |
Hypomyelination-congenital cataract syndrome |
| GARD:16771 |
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome |
| GARD:18257 |
Hypoparathyroidism, familial isolated, 2 |
| GARD:2914 |
Hypoparathyroidism, x-linked |
| GARD:2911 |
Hypoparathyroidism-sensorineural deafness-renal disease syndrome |
| GARD:6734 |
Hypophosphatasia |
| GARD:6735 |
Hypophosphatemic rickets |
| GARD:18416 |
Hypophosphatemic rickets, autosomal recessive, 1 |
| GARD:18417 |
Hypophosphatemic rickets, autosomal recessive, 2 |
| GARD:15011 |
Hypophosphatemic rickets, x-linked recessive |
| GARD:19005 |
Hypopigmentation of the skin |
| GARD:12384 |
Hypopigmentation-punctate palmoplantar keratoderma syndrome |
| GARD:19625 |
Hypoplasia of the mitral valve annulus |
| GARD:4380 |
Hypoplasminogenemia |
| GARD:645 |
Hypoplastic amelogenesis imperfecta |
| GARD:6739 |
Hypoplastic left heart syndrome |
| GARD:15803 |
Hypoplastic left heart syndrome 2 |
| GARD:5237 |
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome |
| GARD:2922 |
Hypoplastic right heart syndrome |
| GARD:16590 |
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome |
| GARD:18185 |
Hypospadias 1, x-linked |
| GARD:18186 |
Hypospadias 2, x-linked |
| GARD:18184 |
Hypospadias 3, autosomal |
| GARD:18187 |
Hypospadias 4, x-linked, susceptibility to |
| GARD:2928 |
Hypospadias-intellectual disability, Goldblatt type syndrome |
| GARD:21850 |
Hypothalamic adipsic hypernatraemia syndrome |
| GARD:19084 |
Hypothalamic hamartomas with gelastic seizures |
| GARD:16793 |
Hypothyroidism due to TSH receptor mutations |
| GARD:20562 |
Hypothyroidism due to deficient transcription factors involved in pituitary development or function |
| GARD:15165 |
Hypothyroidism, congenital, nongoitrous, 5 |
| GARD:16950 |
Hypotonia with lactic acidemia and hyperammonemia |
| GARD:18457 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 |
| GARD:18458 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| GARD:16998 |
Hypotonia-cystinuria syndrome |
| GARD:20634 |
Hypotonia-cystinuria type 1 syndrome |
| GARD:16725 |
Hypotonia-failure to thrive-microcephaly syndrome |
| GARD:17609 |
Hypotonia-speech impairment-severe cognitive delay syndrome |
| GARD:15782 |
Hypotrichosis 10 |
| GARD:15900 |
Hypotrichosis 11 |
| GARD:16027 |
Hypotrichosis 12 |
| GARD:16029 |
Hypotrichosis 13 |
| GARD:16335 |
Hypotrichosis 14 |
| GARD:18093 |
Hypotrichosis 2 |
| GARD:18094 |
Hypotrichosis 3 |
| GARD:15078 |
Hypotrichosis 4 |
| GARD:15585 |
Hypotrichosis 5 |
| GARD:15423 |
Hypotrichosis 6 |
| GARD:8178 |
Hypotrichosis 7 |
| GARD:15247 |
Hypotrichosis 8 |
| GARD:15781 |
Hypotrichosis 9 |
| GARD:9170 |
Hypotrichosis simplex |
| GARD:16789 |
Hypotrichosis simplex of the scalp |
| GARD:3066 |
Hypotrichosis with juvenile macular degeneration |
| GARD:21504 |
Hypotrichosis-deafness syndrome |
| GARD:18763 |
Hypotrichosis-intellectual disability, Lopes type |
| GARD:15420 |
Hypotrichosis-lymphedema-telangiectasia syndrome |
| GARD:12827 |
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
| GARD:2492 |
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
| GARD:17384 |
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome |
| GARD:15296 |
Hypouricemia, familial renal, due to tubular hypersecretion |
| GARD:15186 |
Hypouricemia, hypercalcinuria, and decreased bone density |
| GARD:15541 |
Hypouricemia, renal, 2 |
| GARD:16710 |
Hypoxanthine guanine phosphoribosyltransferase partial deficiency |
| GARD:2943 |
Hypoxanthine-guanine phosphoribosyltransferase deficiency |
| GARD:2945 |
ICF syndrome |
| GARD:17852 |
IL21-related infantile inflammatory bowel disease |
| GARD:12312 |
IMAGe syndrome |
| GARD:22396 |
IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome |
| GARD:10957 |
IRIDA syndrome |
| GARD:12868 |
IRVAN syndrome |
| GARD:17519 |
ISPD-related limb-girdle muscular dystrophy R20 |
| GARD:17741 |
ITM2B amyloidosis |
| GARD:17806 |
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement |
| GARD:269 |
IVIC syndrome |
| GARD:22329 |
Iatrogenic Creutzfeldt-Jakob disease |
| GARD:20747 |
Iatrogenic botulism |
| GARD:18985 |
Ichthyosis |
| GARD:2952 |
Ichthyosis follicularis-alopecia-photophobia syndrome |
| GARD:2954 |
Ichthyosis hystrix of Curth-Macklin |
| GARD:3170 |
Ichthyosis, congenital, autosomal recessive 1 |
| GARD:15897 |
Ichthyosis, congenital, autosomal recessive 10 |
| GARD:16471 |
Ichthyosis, congenital, autosomal recessive 14 |
| GARD:15187 |
Ichthyosis, congenital, autosomal recessive 2 |
| GARD:15393 |
Ichthyosis, congenital, autosomal recessive 3 |
| GARD:9733 |
Ichthyosis, congenital, autosomal recessive 4a |
| GARD:9734 |
Ichthyosis, congenital, autosomal recessive 5 |
| GARD:15547 |
Ichthyosis, congenital, autosomal recessive 6 |
| GARD:15895 |
Ichthyosis, congenital, autosomal recessive 7 |
| GARD:16457 |
Ichthyosis, congenital, autosomal recessive 8 |
| GARD:15896 |
Ichthyosis, congenital, autosomal recessive 9 |
| GARD:15417 |
Ichthyosis, cyclic, with epidermolytic hyperkeratosis |
| GARD:15349 |
Ichthyosis, hystrix-like, with deafness |
| GARD:15250 |
Ichthyosis, x-linked, without steroid sulfatase deficiency |
| GARD:292 |
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome |
| GARD:1993 |
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome |
| GARD:10116 |
Ichthyosis-hypotrichosis syndrome |
| GARD:4641 |
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome |
| GARD:2960 |
Ichthyosis-oral and digital anomalies syndrome |
| GARD:9886 |
Ichthyosis-prematurity syndrome |
| GARD:17579 |
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome |
| GARD:12375 |
Idiopathic CD4 lymphocytopenia |
| GARD:5708 |
Idiopathic achalasia |
| GARD:519 |
Idiopathic acute eosinophilic pneumonia |
| GARD:19914 |
Idiopathic acute transverse myelitis |
| GARD:21098 |
Idiopathic anterior uveitis |
| GARD:5836 |
Idiopathic aplastic anemia |
| GARD:21665 |
Idiopathic avascular necrosis |
| GARD:20124 |
Idiopathic bilateral vestibulopathy |
| GARD:16664 |
Idiopathic bronchiectasis |
| GARD:1063 |
Idiopathic camptocormia |
| GARD:20119 |
Idiopathic central precocious puberty |
| GARD:1130 |
Idiopathic chronic eosinophilic pneumonia |
| GARD:19298 |
Idiopathic congenital hypothyroidism |
| GARD:17106 |
Idiopathic copper-associated cirrhosis |
| GARD:21874 |
Idiopathic dropped head syndrome |
| GARD:21975 |
Idiopathic ductopenia |
| GARD:20664 |
Idiopathic eosinophilic myositis |
| GARD:20246 |
Idiopathic eosinophilic pneumonia |
| GARD:22249 |
Idiopathic gastroparesis |
| GARD:21494 |
Idiopathic giant cell myocarditis |
| GARD:19085 |
Idiopathic hemiconvulsion-hemiplegia syndrome |
| GARD:16587 |
Idiopathic hypercalciuria |
| GARD:16625 |
Idiopathic hypereosinophilic syndrome |
| GARD:8737 |
Idiopathic hypersomnia |
| GARD:9128 |
Idiopathic inflammatory myopathy |
| GARD:13337 |
Idiopathic interstitial pneumonia |
| GARD:4561 |
Idiopathic intracranial hypertension |
| GARD:19292 |
Idiopathic isolated micropenis |
| GARD:6760 |
Idiopathic juvenile osteoporosis |
| GARD:21365 |
Idiopathic linear interstitial keratitis |
| GARD:19127 |
Idiopathic localized lipodystrophy |
| GARD:21531 |
Idiopathic macular telangiectasia type 1 |
| GARD:21532 |
Idiopathic macular telangiectasia type 3 |
| GARD:19046 |
Idiopathic malabsorption due to bile acid synthesis defects |
| GARD:22309 |
Idiopathic multicentric Castleman disease |
| GARD:22287 |
Idiopathic multidrug-resistant nephrotic syndrome |
| GARD:18831 |
Idiopathic neonatal atrial flutter |
| GARD:21539 |
Idiopathic nephrotic syndrome |
| GARD:22285 |
Idiopathic non-lupus full-house nephropathy |
| GARD:22041 |
Idiopathic optic perineuritis |
| GARD:20087 |
Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes |
| GARD:21100 |
Idiopathic panuveitis |
| GARD:21977 |
Idiopathic peliosis hepatis |
| GARD:21860 |
Idiopathic phalangeal acro-osteolysis |
| GARD:22004 |
Idiopathic pleuroparenchymal fibroelastosis |
| GARD:21099 |
Idiopathic posterior uveitis |
| GARD:21025 |
Idiopathic pulmonary arterial hypertension |
| GARD:6757 |
Idiopathic pulmonary artery dilatation |
| GARD:8609 |
Idiopathic pulmonary fibrosis |
| GARD:6763 |
Idiopathic pulmonary hemosiderosis |
| GARD:20695 |
Idiopathic recurrent pericarditis |
| GARD:21045 |
Idiopathic recurrent stupor |
| GARD:10822 |
Idiopathic spontaneous coronary artery dissection |
| GARD:18003 |
Idiopathic steroid-resistant nephrotic syndrome |
| GARD:22288 |
Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy |
| GARD:16678 |
Idiopathic steroid-sensitive nephrotic syndrome |
| GARD:22286 |
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance |
| GARD:19693 |
Idiopathic syringomyelia |
| GARD:10363 |
Idiopathic trachyonychia |
| GARD:20442 |
Idiopathic uveal effusion syndrome |
| GARD:4227 |
Idiopathic ventricular fibrillation, non Brugada type |
| GARD:16531 |
Idiopathic/heritable pulmonary arterial hypertension |
| GARD:15297 |
Ifap syndrome 1, with or without bresheck syndrome |
| GARD:16402 |
Ifap syndrome 2 |
| GARD:22242 |
IgA pemphigus |
| GARD:21883 |
IgG4-related aortitis |
| GARD:7043 |
IgG4-related dacryoadenitis and sialadenitis |
| GARD:12521 |
IgG4-related disease |
| GARD:21882 |
IgG4-related kidney disease |
| GARD:8337 |
IgG4-related mediastinitis |
| GARD:8169 |
IgG4-related mesenteritis |
| GARD:21885 |
IgG4-related ophthalmic disease |
| GARD:13256 |
IgG4-related pachymeningitis |
| GARD:9568 |
IgG4-related retroperitoneal fibrosis |
| GARD:21867 |
IgG4-related sclerosing cholangitis |
| GARD:21884 |
IgG4-related submandibular gland disease |
| GARD:22391 |
IgG4-related systemic disease |
| GARD:18866 |
IgG4-related thyroid disease |
| GARD:19753 |
Ileal neuroendocrine tumor |
| GARD:20637 |
Ileal pouch anal anastomosis related faecal incontinence |
| GARD:16381 |
Imagawa-matsumoto syndrome |
| GARD:7006 |
Imerslund-Gräsbeck syndrome |
| GARD:8424 |
Iminoglycinuria |
| GARD:19984 |
Immune complex mediated vasculitis |
| GARD:22464 |
Immune deficiency due to impaired neutrophil phagocytosis and migration |
| GARD:19019 |
Immune deficiency with skin involvement |
| GARD:2984 |
Immune deficiency, familial variable |
| GARD:16400 |
Immune dysregulation and systemic hyperinflammation syndrome |
| GARD:20117 |
Immune dysregulation disease with immunodeficiency |
| GARD:22203 |
Immune dysregulation with inflammatory bowel disease |
| GARD:13016 |
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome |
| GARD:22204 |
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome |
| GARD:1850 |
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome |
| GARD:21561 |
Immune hydrops fetalis |
| GARD:5194 |
Immune thrombocytopenia |
| GARD:21933 |
Immune-mediated acquired neuromuscular junction disease |
| GARD:22494 |
Immune-mediated cerebellar ataxia |
| GARD:20351 |
Immune-mediated necrotizing myopathy |
| GARD:4607 |
Immune-mediated thrombotic thrombocytopenic purpura |
| GARD:20115 |
Immuno-osseous dysplasia |
| GARD:18293 |
Immunodeficiency 104 |
| GARD:15979 |
Immunodeficiency 14a, autosomal dominant |
| GARD:18469 |
Immunodeficiency 15a |
| GARD:18468 |
Immunodeficiency 15b |
| GARD:18295 |
Immunodeficiency 18 |
| GARD:18296 |
Immunodeficiency 19 |
| GARD:18294 |
Immunodeficiency 25 |
| GARD:16046 |
Immunodeficiency 36 |
| GARD:15185 |
Immunodeficiency 43 |
| GARD:15732 |
Immunodeficiency 51 |
| GARD:10007 |
Immunodeficiency 61 |
| GARD:16360 |
Immunodeficiency 64 |
| GARD:18299 |
Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis |
| GARD:18300 |
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia |
| GARD:18194 |
Immunodeficiency 75 |
| GARD:15600 |
Immunodeficiency 83, susceptibility to viral infections |
| GARD:8427 |
Immunodeficiency by defective expression of MHC class I |
| GARD:824 |
Immunodeficiency by defective expression of MHC class II |
| GARD:17049 |
Immunodeficiency due to CD25 deficiency |
| GARD:17512 |
Immunodeficiency due to MASP-2 deficiency |
| GARD:15025 |
Immunodeficiency due to a classical component pathway complement deficiency |
| GARD:21919 |
Immunodeficiency due to a complement cascade component deficiency |
| GARD:19811 |
Immunodeficiency due to a complement cascade protein anomaly |
| GARD:21920 |
Immunodeficiency due to a complement regulatory deficiency |
| GARD:17050 |
Immunodeficiency due to a late component of complement deficiency |
| GARD:21511 |
Immunodeficiency due to absence of thymus |
| GARD:17513 |
Immunodeficiency due to ficolin3 deficiency |
| GARD:10311 |
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency |
| GARD:11903 |
Immunodeficiency due to selective anti-polysaccharide antibody deficiency |
| GARD:19807 |
Immunodeficiency predominantly affecting antibody production |
| GARD:20116 |
Immunodeficiency syndrome with autoimmunity |
| GARD:21515 |
Immunodeficiency syndrome with hypopigmentation |
| GARD:17099 |
Immunodeficiency with factor H anomaly |
| GARD:17098 |
Immunodeficiency with factor I anomaly |
| GARD:21512 |
Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells |
| GARD:21513 |
Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells |
| GARD:15990 |
Immunodeficiency, common variable, 10 |
| GARD:16141 |
Immunodeficiency, common variable, 12, with autoimmunity |
| GARD:15184 |
Immunodeficiency, common variable, 2 |
| GARD:15668 |
Immunodeficiency, common variable, 3 |
| GARD:15669 |
Immunodeficiency, common variable, 4 |
| GARD:15670 |
Immunodeficiency, common variable, 5 |
| GARD:15671 |
Immunodeficiency, common variable, 6 |
| GARD:15836 |
Immunodeficiency, common variable, 7 |
| GARD:19443 |
Immunodeficiency-associated lymphoproliferative disease |
| GARD:15188 |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| GARD:15751 |
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| GARD:16168 |
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 |
| GARD:16169 |
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
| GARD:8204 |
Immunoglobulin A vasculitis |
| GARD:20111 |
Immunoglobulin heavy chain deficiency |
| GARD:17506 |
Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| GARD:12048 |
Immunotactoid glomerulopathy |
| GARD:12741 |
Immunotactoid or fibrillary glomerulopathy |
| GARD:2989 |
Imperforate oropharynx-costovertebral anomalies syndrome |
| GARD:18832 |
Incessant infant ventricular tachycardia |
| GARD:10899 |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
| GARD:15962 |
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 |
| GARD:15963 |
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 |
| GARD:3896 |
Inclusion body myositis |
| GARD:20364 |
Inclusion myopathy |
| GARD:22394 |
Incomplete septal cirrhosis |
| GARD:6778 |
Incontinentia pigmenti |
| GARD:20022 |
Indeterminate cell histiocytosis |
| GARD:21244 |
Indolent B-cell non-Hodgkin lymphoma |
| GARD:20164 |
Indolent primary cutaneous B-cell lymphoma |
| GARD:20161 |
Indolent primary cutaneous T-cell lymphoma |
| GARD:19595 |
Indolent systemic mastocytosis |
| GARD:2303 |
Indomethacin embryofetopathy |
| GARD:112 |
Infant acute respiratory distress syndrome |
| GARD:20150 |
Infant botulism |
| GARD:20343 |
Infantile Krabbe disease |
| GARD:4648 |
Infantile Refsum disease |
| GARD:6779 |
Infantile apnea |
| GARD:5040 |
Infantile bilateral striatal necrosis |
| GARD:13264 |
Infantile cerebellar-retinal degeneration |
| GARD:10995 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| GARD:1313 |
Infantile choroidocerebral calcification syndrome |
| GARD:8553 |
Infantile convulsions and choreoathetosis |
| GARD:8487 |
Infantile digital fibromatosis |
| GARD:10484 |
Infantile dystonia-parkinsonism |
| GARD:19436 |
Infantile epilepsy syndrome |
| GARD:17582 |
Infantile epileptic-dyskinetic encephalopathy |
| GARD:17333 |
Infantile glycine encephalopathy |
| GARD:20453 |
Infantile hemangioma of rare localization |
| GARD:12892 |
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency |
| GARD:17192 |
Infantile hypophosphatasia |
| GARD:17962 |
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
| GARD:18000 |
Infantile inflammatory bowel disease with neurological involvement |
| GARD:13113 |
Infantile liver failure syndrome 2 |
| GARD:16483 |
Infantile liver failure syndrome 3 |
| GARD:20653 |
Infantile mercury poisoning |
| GARD:17791 |
Infantile multisystem neurologic-endocrine-pancreatic disease |
| GARD:2998 |
Infantile myofibromatosis |
| GARD:16825 |
Infantile nephronophthisis |
| GARD:9755 |
Infantile nephropathic cystinosis |
| GARD:3957 |
Infantile neuroaxonal dystrophy |
| GARD:9447 |
Infantile neuronal ceroid lipofuscinosis |
| GARD:7206 |
Infantile neurovisceral acid sphingomyelinase deficiency |
| GARD:20694 |
Infantile onset panniculitis with uveitis and systemic granulomatosis |
| GARD:10082 |
Infantile osteopetrosis with neuroaxonal dysplasia |
| GARD:7887 |
Infantile spasms syndrome |
| GARD:3002 |
Infantile spasms-broad thumbs syndrome |
| GARD:20899 |
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome |
| GARD:6807 |
Infantile systemic hyalinosis |
| GARD:8521 |
Infantile-onset X-linked spinal muscular atrophy |
| GARD:4914 |
Infantile-onset ascending hereditary spastic paralysis |
| GARD:4954 |
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia |
| GARD:21904 |
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome |
| GARD:17905 |
Infantile-onset generalized dyskinesia with orofacial involvement |
| GARD:21619 |
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression |
| GARD:13198 |
Infantile-onset periodic fever-panniculitis-dermatosis syndrome |
| GARD:22313 |
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia |
| GARD:4062 |
Infantile-onset spinocerebellar ataxia |
| GARD:22234 |
Infection-related hemolytic uremic syndrome |
| GARD:21067 |
Infectious anterior uveitis |
| GARD:19386 |
Infectious disease of the nervous system |
| GARD:19489 |
Infectious disease with dementia |
| GARD:20092 |
Infectious disease with epilepsy |
| GARD:20357 |
Infectious disease with peripheral neuropathy |
| GARD:20626 |
Infectious embryofetopathy |
| GARD:19433 |
Infectious encephalitis |
| GARD:19877 |
Infectious epithelial keratitis |
| GARD:21068 |
Infectious panuveitis |
| GARD:21066 |
Infectious posterior uveitis |
| GARD:20376 |
Infectious, fungal or parasitic myopathy |
| GARD:21135 |
Infective dermatitis associated with HTLV-1 |
| GARD:6337 |
Infective endocarditis |
| GARD:22085 |
Infective keratitis |
| GARD:19664 |
Inferior vena cava interruption without azygos continuation |
| GARD:20090 |
Inflammatory and autoimmune disease with epilepsy |
| GARD:18342 |
Inflammatory bowel disease 25, autosomal recessive |
| GARD:18343 |
Inflammatory bowel disease 28, autosomal recessive |
| GARD:22205 |
Inflammatory bowel disease-recurrent sinopulmonary infections syndrome |
| GARD:5484 |
Inflammatory linear verrucous epidermal nevus |
| GARD:7146 |
Inflammatory myofibroblastic tumor |
| GARD:20663 |
Inflammatory myopathy with abundant macrophages |
| GARD:19098 |
Inflammatory pseudotumor of the liver |
| GARD:18429 |
Inflammatory skin and bowel disease, neonatal, 1 |
| GARD:18430 |
Inflammatory skin and bowel disease, neonatal, 2 |
| GARD:22078 |
Inflammatory/autoimmune disorder involving the lacrimal system |
| GARD:20632 |
Infundibulo-neurohypophysitis |
| GARD:20657 |
Inhalational anthrax |
| GARD:20746 |
Inhalational botulism |
| GARD:17307 |
Inherited Creutzfeldt-Jakob disease |
| GARD:17450 |
Inherited acute myeloid leukemia |
| GARD:19921 |
Inherited cancer-predisposing syndrome |
| GARD:17449 |
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations |
| GARD:17109 |
Inherited congenital spastic tetraplegia |
| GARD:21793 |
Inherited digestive cancer-predisposing syndrome |
| GARD:18992 |
Inherited epidermolysis bullosa |
| GARD:22360 |
Inherited gynecological cancer-predisposing syndrome |
| GARD:22461 |
Inherited hematologic cancer-predisposing syndrome |
| GARD:21085 |
Inherited human prion disease |
| GARD:20261 |
Inherited ichthyosis |
| GARD:21105 |
Inherited ichthyosis syndromic form |
| GARD:21143 |
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency |
| GARD:20742 |
Inherited nervous system cancer-predisposing syndrome |
| GARD:21104 |
Inherited non-syndromic ichthyosis |
| GARD:21420 |
Inherited renal cancer-predisposing syndrome |
| GARD:18916 |
Inherited retinal disorder |
| GARD:10506 |
Iniencephaly |
| GARD:10808 |
Insulin autoimmune syndrome |
| GARD:3008 |
Insulin-resistance syndrome type A |
| GARD:3009 |
Insulin-resistance syndrome type B |
| GARD:3010 |
Insulinoma |
| GARD:16306 |
Intellectual developmental disorder and retinitis pigmentosa |
| GARD:18516 |
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| GARD:18512 |
Intellectual developmental disorder with autism and speech delay |
| GARD:18522 |
Intellectual developmental disorder with autistic features and language delay, with or without seizures |
| GARD:18529 |
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies |
| GARD:18520 |
Intellectual developmental disorder with impaired language and dysmorphic facies |
| GARD:18527 |
Intellectual developmental disorder with seizures and language delay |
| GARD:18518 |
Intellectual developmental disorder with severe speech and ambulation defects |
| GARD:22581 |
Intellectual developmental disorder with short stature and behavioral abnormalities |
| GARD:18536 |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
| GARD:18623 |
Intellectual developmental disorder, autosomal dominant 1 |
| GARD:16460 |
Intellectual developmental disorder, autosomal dominant 10 |
| GARD:16462 |
Intellectual developmental disorder, autosomal dominant 13 |
| GARD:16458 |
Intellectual developmental disorder, autosomal dominant 2 |
| GARD:13379 |
Intellectual developmental disorder, autosomal dominant 29 |
| GARD:16454 |
Intellectual developmental disorder, autosomal dominant 3 |
| GARD:13136 |
Intellectual developmental disorder, autosomal dominant 30 |
| GARD:16082 |
Intellectual developmental disorder, autosomal dominant 33 |
| GARD:16469 |
Intellectual developmental disorder, autosomal dominant 38 |
| GARD:16455 |
Intellectual developmental disorder, autosomal dominant 4 |
| GARD:18501 |
Intellectual developmental disorder, autosomal dominant 42 |
| GARD:13179 |
Intellectual developmental disorder, autosomal dominant 43 |
| GARD:12558 |
Intellectual developmental disorder, autosomal dominant 5 |
| GARD:16472 |
Intellectual developmental disorder, autosomal dominant 52 |
| GARD:16473 |
Intellectual developmental disorder, autosomal dominant 53 |
| GARD:16474 |
Intellectual developmental disorder, autosomal dominant 54 |
| GARD:16260 |
Intellectual developmental disorder, autosomal dominant 55, with seizures |
| GARD:13524 |
Intellectual developmental disorder, autosomal dominant 56 |
| GARD:16476 |
Intellectual developmental disorder, autosomal dominant 58 |
| GARD:12851 |
Intellectual developmental disorder, autosomal dominant 6, with or without seizures |
| GARD:16367 |
Intellectual developmental disorder, autosomal dominant 60, with seizures |
| GARD:18514 |
Intellectual developmental disorder, autosomal dominant 61 |
| GARD:16478 |
Intellectual developmental disorder, autosomal dominant 64 |
| GARD:18547 |
Intellectual developmental disorder, autosomal dominant 65 |
| GARD:22537 |
Intellectual developmental disorder, autosomal recessive 1 |
| GARD:22545 |
Intellectual developmental disorder, autosomal recessive 10 |
| GARD:22546 |
Intellectual developmental disorder, autosomal recessive 11 |
| GARD:22540 |
Intellectual developmental disorder, autosomal recessive 12 |
| GARD:22548 |
Intellectual developmental disorder, autosomal recessive 13 |
| GARD:22549 |
Intellectual developmental disorder, autosomal recessive 14 |
| GARD:22551 |
Intellectual developmental disorder, autosomal recessive 16 |
| GARD:22552 |
Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy |
| GARD:22558 |
Intellectual developmental disorder, autosomal recessive 19 |
| GARD:22538 |
Intellectual developmental disorder, autosomal recessive 2 |
| GARD:22559 |
Intellectual developmental disorder, autosomal recessive 23 |
| GARD:22560 |
Intellectual developmental disorder, autosomal recessive 24 |
| GARD:22561 |
Intellectual developmental disorder, autosomal recessive 25 |
| GARD:22555 |
Intellectual developmental disorder, autosomal recessive 27 |
| GARD:22562 |
Intellectual developmental disorder, autosomal recessive 28 |
| GARD:22554 |
Intellectual developmental disorder, autosomal recessive 29 |
| GARD:22539 |
Intellectual developmental disorder, autosomal recessive 3 |
| GARD:22557 |
Intellectual developmental disorder, autosomal recessive 30 |
| GARD:22553 |
Intellectual developmental disorder, autosomal recessive 31 |
| GARD:22556 |
Intellectual developmental disorder, autosomal recessive 33 |
| GARD:22563 |
Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly |
| GARD:22547 |
Intellectual developmental disorder, autosomal recessive 4 |
| GARD:22565 |
Intellectual developmental disorder, autosomal recessive 43 |
| GARD:22566 |
Intellectual developmental disorder, autosomal recessive 44 |
| GARD:22567 |
Intellectual developmental disorder, autosomal recessive 45 |
| GARD:22568 |
Intellectual developmental disorder, autosomal recessive 46 |
| GARD:22569 |
Intellectual developmental disorder, autosomal recessive 47 |
| GARD:22541 |
Intellectual developmental disorder, autosomal recessive 5 |
| GARD:22570 |
Intellectual developmental disorder, autosomal recessive 50 |
| GARD:22571 |
Intellectual developmental disorder, autosomal recessive 51 |
| GARD:22572 |
Intellectual developmental disorder, autosomal recessive 52 |
| GARD:22573 |
Intellectual developmental disorder, autosomal recessive 54 |
| GARD:22574 |
Intellectual developmental disorder, autosomal recessive 56 |
| GARD:22575 |
Intellectual developmental disorder, autosomal recessive 57 |
| GARD:22542 |
Intellectual developmental disorder, autosomal recessive 6 |
| GARD:16475 |
Intellectual developmental disorder, autosomal recessive 63 |
| GARD:22578 |
Intellectual developmental disorder, autosomal recessive 65 |
| GARD:22579 |
Intellectual developmental disorder, autosomal recessive 66 |
| GARD:22543 |
Intellectual developmental disorder, autosomal recessive 7 |
| GARD:22580 |
Intellectual developmental disorder, autosomal recessive 70 |
| GARD:16208 |
Intellectual developmental disorder, autosomal recessive 74 |
| GARD:22544 |
Intellectual developmental disorder, autosomal recessive 9 |
| GARD:22699 |
Intellectual developmental disorder, x-linked 1 |
| GARD:22694 |
Intellectual developmental disorder, x-linked 101 |
| GARD:22696 |
Intellectual developmental disorder, x-linked 104 |
| GARD:22697 |
Intellectual developmental disorder, x-linked 105 |
| GARD:22698 |
Intellectual developmental disorder, x-linked 107 |
| GARD:8557 |
Intellectual developmental disorder, x-linked 14 |
| GARD:22687 |
Intellectual developmental disorder, x-linked 19 |
| GARD:22675 |
Intellectual developmental disorder, x-linked 2 |
| GARD:22667 |
Intellectual developmental disorder, x-linked 20 |
| GARD:22669 |
Intellectual developmental disorder, x-linked 21 |
| GARD:22666 |
Intellectual developmental disorder, x-linked 23 |
| GARD:5614 |
Intellectual developmental disorder, x-linked 29 |
| GARD:22682 |
Intellectual developmental disorder, x-linked 30 |
| GARD:22689 |
Intellectual developmental disorder, x-linked 41 |
| GARD:22674 |
Intellectual developmental disorder, x-linked 42 |
| GARD:22679 |
Intellectual developmental disorder, x-linked 45 |
| GARD:22677 |
Intellectual developmental disorder, x-linked 46 |
| GARD:22668 |
Intellectual developmental disorder, x-linked 50 |
| GARD:22672 |
Intellectual developmental disorder, x-linked 53 |
| GARD:22670 |
Intellectual developmental disorder, x-linked 58 |
| GARD:5613 |
Intellectual developmental disorder, x-linked 63 |
| GARD:22671 |
Intellectual developmental disorder, x-linked 72 |
| GARD:22673 |
Intellectual developmental disorder, x-linked 73 |
| GARD:22678 |
Intellectual developmental disorder, x-linked 77 |
| GARD:22676 |
Intellectual developmental disorder, x-linked 81 |
| GARD:22680 |
Intellectual developmental disorder, x-linked 84 |
| GARD:22700 |
Intellectual developmental disorder, x-linked 9 |
| GARD:22690 |
Intellectual developmental disorder, x-linked 90 |
| GARD:22684 |
Intellectual developmental disorder, x-linked 95 |
| GARD:22685 |
Intellectual developmental disorder, x-linked 96 |
| GARD:22686 |
Intellectual developmental disorder, x-linked 97 |
| GARD:22693 |
Intellectual developmental disorder, x-linked 99 |
| GARD:15282 |
Intellectual developmental disorder, x-linked, syndromic, houge type |
| GARD:15254 |
Intellectual developmental disorder, x-linked, syndromic, lubs type |
| GARD:15264 |
Intellectual developmental disorder, x-linked, syndromic, raymond type |
| GARD:81 |
Intellectual developmental disorder, x-linked, syndromic, turner type |
| GARD:21926 |
Intellectual disability syndrome due to a DYRK1A point mutation |
| GARD:10358 |
Intellectual disability, Birk-Barel type |
| GARD:3485 |
Intellectual disability, Buenos-Aires type |
| GARD:3530 |
Intellectual disability, Wolff type |
| GARD:17326 |
Intellectual disability-alacrima-achalasia syndrome |
| GARD:17970 |
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome |
| GARD:257 |
Intellectual disability-balding-patella luxation-acromicria syndrome |
| GARD:17583 |
Intellectual disability-brachydactyly-Pierre Robin syndrome |
| GARD:17948 |
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome |
| GARD:4488 |
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome |
| GARD:20128 |
Intellectual disability-cataracts-kyphosis syndrome |
| GARD:17636 |
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome |
| GARD:13043 |
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome |
| GARD:7890 |
Intellectual disability-developmental delay-contractures syndrome |
| GARD:9811 |
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome |
| GARD:13474 |
Intellectual disability-epilepsy-extrapyramidal syndrome |
| GARD:17724 |
Intellectual disability-expressive aphasia-facial dysmorphism syndrome |
| GARD:17673 |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| GARD:21585 |
Intellectual disability-facial dysmorphism-hand anomalies syndrome |
| GARD:21579 |
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome |
| GARD:12487 |
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome |
| GARD:21379 |
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome |
| GARD:3521 |
Intellectual disability-hypotonic facies syndrome, x-linked, 1 |
| GARD:17802 |
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome |
| GARD:21906 |
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome |
| GARD:1358 |
Intellectual disability-myopathy-short stature-endocrine defect syndrome |
| GARD:21521 |
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome |
| GARD:17648 |
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome |
| GARD:3141 |
Intellectual disability-polydactyly-uncombable hair syndrome |
| GARD:17953 |
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome |
| GARD:17584 |
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome |
| GARD:21583 |
Intellectual disability-seizures-macrocephaly-obesity syndrome |
| GARD:12501 |
Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| GARD:3514 |
Intellectual disability-short stature-hypertelorism syndrome |
| GARD:3523 |
Intellectual disability-spasticity-ectrodactyly syndrome |
| GARD:17563 |
Intellectual disability-strabismus syndrome |
| GARD:15018 |
Interatrial communication |
| GARD:21180 |
Intercalary limb defects |
| GARD:16765 |
Interdigitating dendritic cell sarcoma |
| GARD:21954 |
Intermediate Charcot-Marie-Tooth disease |
| GARD:19724 |
Intermediate DEND syndrome |
| GARD:22325 |
Intermediate atrioventricular septal defect |
| GARD:17951 |
Intermediate epidermolysis bullosa simplex with cardiomyopathy |
| GARD:12922 |
Intermediate generalized junctional epidermolysis bullosa |
| GARD:17264 |
Intermediate maple syrup urine disease |
| GARD:12823 |
Intermediate nemaline myopathy |
| GARD:4156 |
Intermediate osteopetrosis |
| GARD:10871 |
Intermediate severe Salla disease |
| GARD:21065 |
Intermediate uveitis |
| GARD:21499 |
Intermittent hydrarthrosis |
| GARD:17265 |
Intermittent maple syrup urine disease |
| GARD:3012 |
Internal carotid absence |
| GARD:18825 |
Interstitial cystitis |
| GARD:18940 |
Interstitial granulomatous dermatitis with arthritis |
| GARD:20244 |
Interstitial lung disease |
| GARD:17745 |
Interstitial lung disease due to ABCA3 deficiency |
| GARD:17744 |
Interstitial lung disease due to SP-C deficiency |
| GARD:20934 |
Interstitial lung disease in childhood and adulthood |
| GARD:20931 |
Interstitial lung disease specific to adulthood |
| GARD:20921 |
Interstitial lung disease specific to childhood |
| GARD:20925 |
Interstitial lung disease specific to infancy |
| GARD:17377 |
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome |
| GARD:18205 |
Interstitial pneumonitis, desquamative, familial |
| GARD:16895 |
Interventricular septum aneurysm |
| GARD:20151 |
Intestinal botulism |
| GARD:19843 |
Intestinal disease due to fat malabsorption |
| GARD:19842 |
Intestinal disease due to vitamin absorption anomaly |
| GARD:12331 |
Intestinal lymphangiectasia |
| GARD:19384 |
Intestinal malformation |
| GARD:17418 |
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency |
| GARD:19847 |
Intestinal polyposis syndrome |
| GARD:3017 |
Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked |
| GARD:18918 |
Intractable diarrhea of infancy |
| GARD:19882 |
Intractable diarrhea-choanal atresia-eye anomalies syndrome |
| GARD:21779 |
Intraductal papillary mucinous carcinoma of pancreas |
| GARD:22331 |
Intraductal tubulopapillary neoplasm of pancreas |
| GARD:9804 |
Intrahepatic cholestasis of pregnancy |
| GARD:21090 |
Intralobar congenital pulmonary sequestration |
| GARD:10921 |
Intraneural perineurioma |
| GARD:20945 |
Intraocular medulloepithelioma |
| GARD:17949 |
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome |
| GARD:21818 |
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome |
| GARD:5593 |
Intrauterine growth retardation with increased mitomycin c sensitivity |
| GARD:19590 |
Intravascular large B-cell lymphoma |
| GARD:15190 |
Intrinsic factor and r binder, combined congenital deficiency of |
| GARD:19120 |
Invasive infections due to vancomycin-resistant enterococci |
| GARD:19711 |
Invasive mole |
| GARD:21449 |
Invasive non-typhoidal salmonellosis |
| GARD:21488 |
Inverse Klippel-Trénaunay syndrome |
| GARD:19608 |
Inverse Marcus-Gunn phenomenon |
| GARD:5153 |
Inverted duplicated chromosome 15 syndrome |
| GARD:60 |
Iridocorneal endothelial syndrome |
| GARD:6793 |
Isaacs syndrome |
| GARD:19052 |
Ischiovertebral syndrome |
| GARD:10223 |
Isobutyryl-CoA dehydrogenase deficiency |
| GARD:19349 |
Isochromosome Y |
| GARD:19579 |
Isochromosomy Yp |
| GARD:19580 |
Isochromosomy Yq |
| GARD:18649 |
Isolated ATP synthase deficiency |
| GARD:6242 |
Isolated Dandy-Walker malformation |
| GARD:20993 |
Isolated Dandy-Walker malformation with hydrocephalus |
| GARD:20994 |
Isolated Dandy-Walker malformation without hydrocephalus |
| GARD:10280 |
Isolated Klippel-Feil syndrome |
| GARD:4347 |
Isolated Pierre Robin syndrome |
| GARD:17155 |
Isolated agammaglobulinemia |
| GARD:21844 |
Isolated agenesis of gallbladder |
| GARD:20976 |
Isolated amyelia |
| GARD:22254 |
Isolated anencephaly |
| GARD:5808 |
Isolated anencephaly/exencephaly |
| GARD:5816 |
Isolated aniridia |
| GARD:19168 |
Isolated ankyloblepharon filiforme adnatum |
| GARD:8438 |
Isolated anterior cervical hypertrichosis |
| GARD:20979 |
Isolated arhinencephaly |
| GARD:364 |
Isolated arrhinia |
| GARD:20356 |
Isolated asymptomatic elevation of creatine phosphokinase |
| GARD:20334 |
Isolated autosomal dominant hypomagnesemia, Glaudemans type |
| GARD:20996 |
Isolated bilateral hemispheric cerebellar hypoplasia |
| GARD:12010 |
Isolated biliary atresia |
| GARD:22124 |
Isolated blepharochalasis |
| GARD:20037 |
Isolated bone marrow mastocytosis |
| GARD:18720 |
Isolated cerebellar agenesis |
| GARD:20990 |
Isolated cerebellar vermis agenesis |
| GARD:20337 |
Isolated cerebellar vermis hypoplasia |
| GARD:12889 |
Isolated childhood apraxia of speech |
| GARD:22096 |
Isolated chorioretinal dystrophy |
| GARD:17091 |
Isolated cleft lip |
| GARD:3908 |
Isolated complex I deficiency |
| GARD:8295 |
Isolated complex III deficiency |
| GARD:12550 |
Isolated congenital adermatoglyphia |
| GARD:22263 |
Isolated congenital aglossia |
| GARD:16799 |
Isolated congenital alacrima |
| GARD:10048 |
Isolated congenital anonychia |
| GARD:9486 |
Isolated congenital anosmia |
| GARD:20040 |
Isolated congenital auditory ossicle malformation |
| GARD:9489 |
Isolated congenital breast hypoplasia/aplasia |
| GARD:17117 |
Isolated congenital digital clubbing |
| GARD:19673 |
Isolated congenital ectropion |
| GARD:22123 |
Isolated congenital entropion |
| GARD:21995 |
Isolated congenital hepatic fibrosis |
| GARD:22264 |
Isolated congenital hypoglossia |
| GARD:16972 |
Isolated congenital hypoglossia/aglossia |
| GARD:20643 |
Isolated congenital hypogonadotropic hypogonadism |
| GARD:12648 |
Isolated congenital megalocornea |
| GARD:3603 |
Isolated congenital microcephaly |
| GARD:20039 |
Isolated congenital nasal pyriform aperture stenosis |
| GARD:9761 |
Isolated congenital onychodysplasia |
| GARD:21210 |
Isolated congenital radial head dislocation |
| GARD:16800 |
Isolated congenital sclerocornea |
| GARD:19962 |
Isolated congenital syngnathia |
| GARD:20502 |
Isolated congenitally uncorrected transposition of the great arteries |
| GARD:21968 |
Isolated constitutional thrombocytopenia |
| GARD:18681 |
Isolated corpus callosum agenesis |
| GARD:16797 |
Isolated cryptophthalmia |
| GARD:48 |
Isolated cytochrome C oxidase deficiency |
| GARD:20674 |
Isolated delta-storage pool disease |
| GARD:21290 |
Isolated diffuse palmoplantar keratoderma |
| GARD:16899 |
Isolated distichiasis |
| GARD:19985 |
Isolated dystonia |
| GARD:12251 |
Isolated ectopia lentis |
| GARD:6333 |
Isolated encephalocele |
| GARD:19235 |
Isolated epispadias |
| GARD:22255 |
Isolated exencephaly |
| GARD:22434 |
Isolated female hypospadias |
| GARD:16671 |
Isolated focal cortical dysplasia |
| GARD:20983 |
Isolated focal cortical dysplasia type I |
| GARD:10190 |
Isolated focal cortical dysplasia type II |
| GARD:17270 |
Isolated focal cortical dysplasia type IIa |
| GARD:17271 |
Isolated focal cortical dysplasia type IIb |
| GARD:20984 |
Isolated focal cortical dysplasia type Ia |
| GARD:20985 |
Isolated focal cortical dysplasia type Ib |
| GARD:20986 |
Isolated focal cortical dysplasia type Ic |
| GARD:17781 |
Isolated focal non-epidermolytic palmoplantar keratoderma |
| GARD:21295 |
Isolated focal palmoplantar keratoderma |
| GARD:10128 |
Isolated follicle stimulating hormone deficiency |
| GARD:22127 |
Isolated foveal hypoplasia |
| GARD:17843 |
Isolated generalized anhidrosis with normal sweat glands |
| GARD:2807 |
Isolated glycerol kinase deficiency |
| GARD:7399 |
Isolated growth hormone deficiency type IA |
| GARD:3919 |
Isolated growth hormone deficiency type IB |
| GARD:1696 |
Isolated growth hormone deficiency type II |
| GARD:3921 |
Isolated growth hormone deficiency type III |
| GARD:18997 |
Isolated hair shaft abnormality |
| GARD:2630 |
Isolated hemihyperplasia |
| GARD:8583 |
Isolated hereditary congenital facial paralysis |
| GARD:20539 |
Isolated hereditary giant platelet disorder |
| GARD:17984 |
Isolated hyperchlorhidrosis |
| GARD:22136 |
Isolated inherited retinal disorder |
| GARD:22125 |
Isolated iridoschisis |
| GARD:18715 |
Isolated lissencephaly type 1 without known genetic defects |
| GARD:22097 |
Isolated macular dystrophy |
| GARD:20977 |
Isolated megalencephaly |
| GARD:22129 |
Isolated megalopapilla |
| GARD:22368 |
Isolated melanotic schwannoma |
| GARD:22339 |
Isolated mesenteric vein thrombosis |
| GARD:12085 |
Isolated microphthalmia-anophthalmia-coloboma |
| GARD:22126 |
Isolated microspherophakia |
| GARD:19000 |
Isolated nail anomaly |
| GARD:21983 |
Isolated neonatal sclerosing cholangitis |
| GARD:8419 |
Isolated optic nerve hypoplasia/aplasia |
| GARD:22039 |
Isolated optic neuritis |
| GARD:22377 |
Isolated optic neuritis with anti-MOG antibodies |
| GARD:22376 |
Isolated optic neuritis without anti-MOG antibodies |
| GARD:17027 |
Isolated osteopoikilosis |
| GARD:20766 |
Isolated oxidative phosphorylation complex disorder |
| GARD:20992 |
Isolated partial cerebellar vermis agenesis |
| GARD:19347 |
Isolated partial vaginal agenesis |
| GARD:10457 |
Isolated permanent neonatal diabetes mellitus |
| GARD:9457 |
Isolated polycystic liver disease |
| GARD:22099 |
Isolated progressive inherited retinal disorder |
| GARD:20924 |
Isolated pulmonary capillaritis |
| GARD:18768 |
Isolated punctate palmoplantar keratoderma |
| GARD:4721 |
Isolated right ventricular hypoplasia |
| GARD:18652 |
Isolated sedoheptulokinase deficiency |
| GARD:7673 |
Isolated spina bifida |
| GARD:22338 |
Isolated splenic vein thrombosis |
| GARD:21903 |
Isolated splenogonadal fusion |
| GARD:6319 |
Isolated split hand-split foot malformation |
| GARD:22105 |
Isolated stationary inherited retinal disorder |
| GARD:20144 |
Isolated sternocostoclavicular hyperostosis |
| GARD:5053 |
Isolated succinate-CoQ reductase deficiency |
| GARD:5062 |
Isolated sulfite oxidase deficiency |
| GARD:10129 |
Isolated thyroid-stimulating hormone deficiency |
| GARD:17179 |
Isolated thyrotropin-releasing hormone deficiency |
| GARD:20991 |
Isolated total cerebellar vermis agenesis |
| GARD:21895 |
Isolated tracheoesophageal fistula |
| GARD:20995 |
Isolated unilateral hemispheric cerebellar hypoplasia |
| GARD:22098 |
Isolated vitreoretinopathy |
| GARD:3033 |
Isosporiasis |
| GARD:18765 |
Isotretinoin syndrome |
| GARD:9675 |
Isotretinoin-like syndrome |
| GARD:465 |
Isovaleric acidemia |
| GARD:6796 |
Jackson-Weiss syndrome |
| GARD:307 |
Jacobsen syndrome |
| GARD:1463 |
Jalili syndrome |
| GARD:6797 |
Japanese encephalitis |
| GARD:17410 |
Jawad syndrome |
| GARD:19916 |
Jeavons syndrome |
| GARD:19752 |
Jejunal neuroendocrine tumor |
| GARD:3048 |
Jervell and Lange-Nielsen syndrome |
| GARD:10364 |
Jervell and lange-nielsen syndrome 2 |
| GARD:6940 |
Jessner lymphocytic infiltration of the skin |
| GARD:3049 |
Jeune syndrome |
| GARD:80 |
Johanson-Blizzard syndrome |
| GARD:378 |
Johnson neuroectodermal syndrome |
| GARD:21183 |
Joint formation defects |
| GARD:6802 |
Joubert syndrome |
| GARD:15265 |
Joubert syndrome 10 |
| GARD:15765 |
Joubert syndrome 13 |
| GARD:15801 |
Joubert syndrome 14 |
| GARD:15806 |
Joubert syndrome 15 |
| GARD:15807 |
Joubert syndrome 16 |
| GARD:15824 |
Joubert syndrome 17 |
| GARD:15843 |
Joubert syndrome 18 |
| GARD:10167 |
Joubert syndrome 2 |
| GARD:15887 |
Joubert syndrome 20 |
| GARD:15997 |
Joubert syndrome 21 |
| GARD:15999 |
Joubert syndrome 22 |
| GARD:16124 |
Joubert syndrome 23 |
| GARD:16150 |
Joubert syndrome 24 |
| GARD:16159 |
Joubert syndrome 25 |
| GARD:16160 |
Joubert syndrome 26 |
| GARD:16194 |
Joubert syndrome 27 |
| GARD:16195 |
Joubert syndrome 28 |
| GARD:15435 |
Joubert syndrome 3 |
| GARD:16243 |
Joubert syndrome 30 |
| GARD:16251 |
Joubert syndrome 31 |
| GARD:16297 |
Joubert syndrome 35 |
| GARD:16376 |
Joubert syndrome 36 |
| GARD:16434 |
Joubert syndrome 37 |
| GARD:15465 |
Joubert syndrome 4 |
| GARD:15475 |
Joubert syndrome 5 |
| GARD:15494 |
Joubert syndrome 6 |
| GARD:15519 |
Joubert syndrome 7 |
| GARD:15550 |
Joubert syndrome 8 |
| GARD:15549 |
Joubert syndrome 9 |
| GARD:19931 |
Joubert syndrome and related disorders |
| GARD:17637 |
Joubert syndrome with Jeune asphyxiating thoracic dystrophy |
| GARD:1410 |
Joubert syndrome with hepatic defect |
| GARD:10168 |
Joubert syndrome with ocular defect |
| GARD:9455 |
Joubert syndrome with oculorenal defect |
| GARD:10169 |
Joubert syndrome with renal defect |
| GARD:3060 |
Juberg-Hayward syndrome |
| GARD:2152 |
Junctional epidermolysis bullosa |
| GARD:2143 |
Junctional epidermolysis bullosa inversa |
| GARD:9694 |
Junctional epidermolysis bullosa with pyloric atresia |
| GARD:3062 |
Jung syndrome |
| GARD:10510 |
Juvenile Huntington disease |
| GARD:2831 |
Juvenile Paget disease |
| GARD:2162 |
Juvenile absence epilepsy |
| GARD:11901 |
Juvenile amyotrophic lateral sclerosis |
| GARD:16382 |
Juvenile arthritis |
| GARD:17196 |
Juvenile cataract-microcornea-renal glucosuria syndrome |
| GARD:6805 |
Juvenile dermatomyositis |
| GARD:16883 |
Juvenile glaucoma |
| GARD:16583 |
Juvenile hyaline fibromatosis |
| GARD:18677 |
Juvenile idiopathic arthritis |
| GARD:21496 |
Juvenile idiopathic inflammatory myopathy |
| GARD:21624 |
Juvenile myasthenia gravis |
| GARD:9884 |
Juvenile myelomonocytic leukemia |
| GARD:6808 |
Juvenile myoclonic epilepsy |
| GARD:21144 |
Juvenile nasopharyngeal angiofibroma |
| GARD:18645 |
Juvenile nephronophthisis |
| GARD:17685 |
Juvenile nephropathic cystinosis |
| GARD:4938 |
Juvenile neuronal ceroid lipofuscinosis |
| GARD:16980 |
Juvenile or adult CACH syndrome |
| GARD:21497 |
Juvenile overlap myositis |
| GARD:12742 |
Juvenile polymyositis |
| GARD:16696 |
Juvenile polyposis of infancy |
| GARD:3065 |
Juvenile polyposis syndrome |
| GARD:4485 |
Juvenile primary lateral sclerosis |
| GARD:19183 |
Juvenile sialidosis type 2 |
| GARD:3068 |
Juvenile temporal arteritis |
| GARD:20020 |
Juvenile xanthogranuloma |
| GARD:22363 |
Juvenile-onset Steinert myotonic dystrophy |
| GARD:17768 |
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
| GARD:19648 |
Juxtaposition of the atrial appendages |
| GARD:22399 |
KAT6B-related multiple congenital anomalies syndrome |
| GARD:82 |
KBG syndrome |
| GARD:13060 |
KCNQ2-related epileptic encephalopathy |
| GARD:16744 |
KDM5C-related syndromic X-linked intellectual disability |
| GARD:18022 |
KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome |
| GARD:3113 |
KID syndrome |
| GARD:22436 |
KLHL7-related Bohring-Opitz-like syndrome |
| GARD:22435 |
KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome |
| GARD:22437 |
KLHL7-related cold-induced sweating-like syndrome |
| GARD:22438 |
KLHL7-related disorder |
| GARD:21655 |
KLHL9-related early-onset distal myopathy |
| GARD:5186 |
KRT1-related diffuse nonepidermolytic keratoderma |
| GARD:6810 |
Kabuki syndrome |
| GARD:15270 |
Kabuki syndrome 2 |
| GARD:17219 |
Kagami-Ogata syndrome |
| GARD:17223 |
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation |
| GARD:17221 |
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion |
| GARD:5409 |
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 |
| GARD:10771 |
Kallmann syndrome |
| GARD:18767 |
Kallmann syndrome-heart disease syndrome |
| GARD:16900 |
Kandori fleck retina |
| GARD:6814 |
Kaposi sarcoma |
| GARD:15080 |
Kaposi sarcoma, susceptibility to |
| GARD:3077 |
Kaposiform hemangioendothelioma |
| GARD:13451 |
Kaposiform lymphangiomatosis |
| GARD:3078 |
Kapur-Toriello syndrome |
| GARD:4967 |
Karsch-Neugebauer syndrome |
| GARD:11003 |
Karyomegalic interstitial nephritis |
| GARD:70 |
Kasabach-Merritt syndrome |
| GARD:6816 |
Kawasaki disease |
| GARD:18537 |
Kaya-barakat-masson syndrome |
| GARD:6817 |
Kearns-Sayre syndrome |
| GARD:267 |
Keipert syndrome |
| GARD:6818 |
Kennedy disease |
| GARD:16594 |
Kenny-Caffey syndrome |
| GARD:17716 |
Keppen-Lubinsky syndrome |
| GARD:21107 |
Keratinopathic ichthyosis |
| GARD:2946 |
Keratitis-ichthyosis-deafness syndrome, autosomal recessive |
| GARD:21870 |
Keratocystic odontogenic tumor |
| GARD:3092 |
Keratoderma hereditarium mutilans |
| GARD:16719 |
Keratoderma hereditarium mutilans with ichthyosis |
| GARD:8275 |
Keratolytic winter erythema |
| GARD:6829 |
Keratosis follicularis spinulosa decalvans |
| GARD:15586 |
Keratosis follicularis spinulosa decalvans, autosomal dominant |
| GARD:15299 |
Keratosis follicularis spinulosa decalvans, x-linked |
| GARD:3099 |
Keratosis follicularis-dwarfism-cerebral atrophy syndrome |
| GARD:17306 |
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome |
| GARD:16766 |
Keratosis palmaris et plantaris-clinodactyly syndrome |
| GARD:15590 |
Keratosis palmoplantaris striata ii |
| GARD:9173 |
Keratosis palmoplantaris striata iii |
| GARD:18694 |
Keratosis pilaris atrophicans |
| GARD:3109 |
Kerion celsi |
| GARD:21169 |
Ketamine-induced biliary dilatation |
| GARD:17733 |
Ketoacidosis due to monocarboxylate transporter-1 deficiency |
| GARD:8449 |
Keutel syndrome |
| GARD:18920 |
Kidney tubulopathy-dilated cardiomyopathy syndrome |
| GARD:9690 |
Kienbock disease |
| GARD:6834 |
Kikuchi-Fujimoto disease |
| GARD:6835 |
Kimura disease |
| GARD:4391 |
Kindler epidermolysis bullosa |
| GARD:8433 |
King-Denborough syndrome |
| GARD:10175 |
Klatskin tumor |
| GARD:8672 |
Kleefstra syndrome |
| GARD:18382 |
Kleefstra syndrome 2 |
| GARD:16846 |
Kleefstra syndrome due to 9q34 microdeletion |
| GARD:17253 |
Kleefstra syndrome due to a point mutation |
| GARD:3117 |
Kleine-Levin syndrome |
| GARD:17778 |
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| GARD:16788 |
Klippel-Trénaunay syndrome |
| GARD:15049 |
Klippel-feil syndrome 1, autosomal dominant |
| GARD:15151 |
Klippel-feil syndrome 2, autosomal recessive |
| GARD:15691 |
Klippel-feil syndrome 3, autosomal dominant |
| GARD:6840 |
Klüver-Bucy syndrome |
| GARD:6841 |
Kniest dysplasia |
| GARD:380 |
Knobloch syndrome |
| GARD:3125 |
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome |
| GARD:19637 |
Kommerell diverticulum |
| GARD:10727 |
Koolen-De Vries syndrome |
| GARD:21559 |
Koolen-De Vries syndrome due to a point mutation |
| GARD:17860 |
Kosaki overgrowth syndrome |
| GARD:302 |
Kostmann syndrome |
| GARD:4752 |
Kousseff syndrome |
| GARD:6844 |
Krabbe disease |
| GARD:9174 |
Kufor-Rakeb syndrome |
| GARD:7617 |
Kuru |
| GARD:15191 |
Kuru, susceptibility to |
| GARD:3150 |
Kuskokwim syndrome |
| GARD:8257 |
Kyasanur forest disease |
| GARD:10149 |
Kyphomelic dysplasia |
| GARD:22012 |
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome |
| GARD:2083 |
Kyphoscoliotic Ehlers-Danlos syndrome |
| GARD:17361 |
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency |
| GARD:22216 |
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency |
| GARD:17912 |
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome |
| GARD:10472 |
L-2-hydroxyglutaric aciduria |
| GARD:10323 |
L-Arginine:glycine amidinotransferase deficiency |
| GARD:17748 |
L-ferritin deficiency |
| GARD:12524 |
L1 syndrome |
| GARD:22146 |
LAMA5-related multisystemic syndrome |
| GARD:16539 |
LCAT deficiency |
| GARD:15000 |
LIG4 syndrome |
| GARD:17834 |
LIMS2-related limb-girdle muscular dystrophy |
| GARD:13126 |
LIPE-related familial partial lipodystrophy |
| GARD:21555 |
LMNA-related cardiocutaneous progeria syndrome |
| GARD:22031 |
LRP5-related primary osteoporosis |
| GARD:19045 |
LUMBAR syndrome |
| GARD:10925 |
La Crosse encephalitis |
| GARD:19511 |
Lacrimal drainage system anomaly |
| GARD:22164 |
Lacrimal drainage system anomaly of genetic origin |
| GARD:6848 |
Lacrimoauriculodentodigital syndrome |
| GARD:8214 |
Lafora disease |
| GARD:10769 |
Laing early-onset distal myopathy |
| GARD:22211 |
Lamb-Shaffer syndrome |
| GARD:3169 |
Lambert syndrome |
| GARD:6851 |
Lambert-Eaton myasthenic syndrome |
| GARD:10803 |
Lamellar ichthyosis |
| GARD:3843 |
Laminin subunit alpha 2-related congenital muscular dystrophy |
| GARD:22270 |
Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 |
| GARD:20396 |
Laminin subunit alpha 2-related muscular dystrophy |
| GARD:19444 |
Laminopathy |
| GARD:21242 |
Laminopathy with lipodystrophy |
| GARD:21241 |
Laminopathy with peripheral neuropathy |
| GARD:21243 |
Laminopathy with premature aging |
| GARD:21240 |
Laminopathy with striated muscle involvement |
| GARD:6855 |
Landau-Kleffner syndrome |
| GARD:3553 |
Langer mesomelic dysplasia |
| GARD:6858 |
Langerhans cell histiocytosis |
| GARD:10491 |
Langerhans cell sarcoma |
| GARD:2469 |
Large congenital melanocytic nevus |
| GARD:22073 |
Large granular lymphocyte leukemia |
| GARD:6859 |
Laron syndrome |
| GARD:17133 |
Laron syndrome with immunodeficiency |
| GARD:6860 |
Larsen syndrome |
| GARD:16595 |
Larsen-like osseous dysplasia-short stature syndrome |
| GARD:17308 |
Larsen-like syndrome, B3GAT3 type |
| GARD:5509 |
Laryngeal abductor paralysis |
| GARD:16597 |
Laryngeal abductor paralysis-intellectual disability syndrome |
| GARD:19758 |
Laryngeal neuroendocrine tumor |
| GARD:368 |
Laryngo-onycho-cutaneous syndrome |
| GARD:3191 |
Laryngocele |
| GARD:19893 |
Laryngotracheal angioma |
| GARD:3188 |
Laryngotracheoesophageal cleft |
| GARD:21072 |
Laryngotracheoesophageal cleft type 0 |
| GARD:19236 |
Laryngotracheoesophageal cleft type 1 |
| GARD:19237 |
Laryngotracheoesophageal cleft type 2 |
| GARD:16833 |
Laryngotracheoesophageal cleft type 3 |
| GARD:19238 |
Laryngotracheoesophageal cleft type 4 |
| GARD:20001 |
Larynx anomaly |
| GARD:3194 |
Larynx atresia |
| GARD:19688 |
Lassa fever |
| GARD:16979 |
Late infantile CACH syndrome |
| GARD:17032 |
Late infantile neuronal ceroid lipofuscinosis |
| GARD:20344 |
Late-infantile/juvenile Krabbe disease |
| GARD:22365 |
Late-onset Steinert myotonic dystrophy |
| GARD:19488 |
Late-onset ataxia with dementia |
| GARD:1886 |
Late-onset distal myopathy, Markesbery-Griggs type |
| GARD:22244 |
Late-onset familial hypoaldosteronism |
| GARD:20578 |
Late-onset focal dermal elastosis |
| GARD:20331 |
Late-onset isolated ACTH deficiency |
| GARD:12921 |
Late-onset junctional epidermolysis bullosa |
| GARD:299 |
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome |
| GARD:16824 |
Late-onset nephronophthisis |
| GARD:21153 |
Late-onset primary lymphedema without systemic or visceral involvement |
| GARD:4357 |
Late-onset retinal degeneration |
| GARD:21796 |
Late-onset scapuloperoneal muscular dystrophy with hyaline bodies |
| GARD:19970 |
Lateral facial cleft |
| GARD:9873 |
Lateral meningocele syndrome |
| GARD:9711 |
Lathosterolosis |
| GARD:9678 |
Lattice corneal dystrophy type I |
| GARD:19646 |
Laubry-Pezzi syndrome |
| GARD:12635 |
Laurence-Moon syndrome |
| GARD:155 |
Laurin-Sandrow syndrome |
| GARD:21503 |
Lead poisoning |
| GARD:634 |
Leber congenital amaurosis |
| GARD:635 |
Leber congenital amaurosis 1 |
| GARD:10487 |
Leber congenital amaurosis 10 |
| GARD:10488 |
Leber congenital amaurosis 11 |
| GARD:10489 |
Leber congenital amaurosis 12 |
| GARD:10882 |
Leber congenital amaurosis 13 |
| GARD:10883 |
Leber congenital amaurosis 14 |
| GARD:10884 |
Leber congenital amaurosis 15 |
| GARD:10885 |
Leber congenital amaurosis 16 |
| GARD:15950 |
Leber congenital amaurosis 17 |
| GARD:16359 |
Leber congenital amaurosis 19 |
| GARD:636 |
Leber congenital amaurosis 2 |
| GARD:9661 |
Leber congenital amaurosis 3 |
| GARD:9662 |
Leber congenital amaurosis 4 |
| GARD:9983 |
Leber congenital amaurosis 5 |
| GARD:10490 |
Leber congenital amaurosis 6 |
| GARD:10880 |
Leber congenital amaurosis 7 |
| GARD:10881 |
Leber congenital amaurosis 8 |
| GARD:9491 |
Leber congenital amaurosis 9 |
| GARD:6870 |
Leber hereditary optic neuropathy |
| GARD:15300 |
Leber hereditary optic neuropathy, modifier of |
| GARD:15311 |
Leber optic atrophy and dystonia |
| GARD:8476 |
Leber plus disease |
| GARD:6873 |
Ledderhose disease |
| GARD:22282 |
Left sided atrial isomerism |
| GARD:10985 |
Left ventricular noncompaction |
| GARD:15956 |
Left ventricular noncompaction 10 |
| GARD:15460 |
Left ventricular noncompaction 2 |
| GARD:15906 |
Left ventricular noncompaction 7 |
| GARD:15952 |
Left ventricular noncompaction 8 |
| GARD:6874 |
Legg-Calvé-Perthes disease |
| GARD:22419 |
Legionellosis |
| GARD:6876 |
Legionnaires disease |
| GARD:10714 |
Legius syndrome |
| GARD:6877 |
Leigh syndrome |
| GARD:16685 |
Leigh syndrome with cardiomyopathy |
| GARD:17238 |
Leigh syndrome with leukodystrophy |
| GARD:17239 |
Leigh syndrome with nephrotic syndrome |
| GARD:10097 |
Leiomyoma of vulva and esophagus |
| GARD:6880 |
Leiomyosarcoma |
| GARD:19852 |
Leiomyosarcoma of small intestine |
| GARD:20495 |
Leiomyosarcoma of the cervix uteri |
| GARD:20477 |
Leiomyosarcoma of the corpus uteri |
| GARD:6881 |
Leishmaniasis |
| GARD:10367 |
Lelis syndrome |
| GARD:6882 |
Lemierre syndrome |
| GARD:9912 |
Lennox-Gastaut syndrome |
| GARD:19535 |
Lens position anomaly |
| GARD:22172 |
Lens position anomaly of genetic origin |
| GARD:19536 |
Lens shape anomaly |
| GARD:19534 |
Lens size anomaly |
| GARD:22171 |
Lens size anomaly of genetic origin |
| GARD:3223 |
Lenz-Majewski hyperostotic dwarfism |
| GARD:15518 |
Leopard syndrome 2 |
| GARD:15694 |
Leopard syndrome 3 |
| GARD:6885 |
Leprechaunism |
| GARD:6886 |
Leprosy |
| GARD:15415 |
Leprosy, susceptibility to, 2 |
| GARD:15192 |
Leprosy, susceptibility to, 3 |
| GARD:15504 |
Leprosy, susceptibility to, 4 |
| GARD:15632 |
Leprosy, susceptibility to, 5 |
| GARD:15659 |
Leprosy, susceptibility to, 6 |
| GARD:20973 |
Leptomyelolipoma |
| GARD:7881 |
Leptospirosis |
| GARD:88 |
Leri pleonosteosis |
| GARD:7226 |
Lesch-Nyhan syndrome |
| GARD:18538 |
Lessel-kreienkamp syndrome |
| GARD:3124 |
Lethal Kniest-like dysplasia |
| GARD:3181 |
Lethal Larsen-like syndrome |
| GARD:9910 |
Lethal acantholytic erosive disorder |
| GARD:17432 |
Lethal arteriopathy syndrome due to fibulin-4 deficiency |
| GARD:8756 |
Lethal ataxia with deafness and optic atrophy |
| GARD:22332 |
Lethal brain and heart developmental defects |
| GARD:19215 |
Lethal chondrodysplasia |
| GARD:12643 |
Lethal congenital contracture syndrome |
| GARD:12645 |
Lethal congenital contracture syndrome 4 |
| GARD:18564 |
Lethal congenital contracture syndrome 7 |
| GARD:18565 |
Lethal congenital contracture syndrome 8 |
| GARD:3227 |
Lethal congenital contracture syndrome type 1 |
| GARD:9177 |
Lethal congenital contracture syndrome type 2 |
| GARD:12644 |
Lethal congenital contracture syndrome type 3 |
| GARD:2229 |
Lethal faciocardiomelic dysplasia |
| GARD:18654 |
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |
| GARD:17743 |
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome |
| GARD:2642 |
Lethal hemolytic anemia-genital anomalies syndrome |
| GARD:21978 |
Lethal hydranencephaly-diaphragmatic hernia syndrome |
| GARD:17226 |
Lethal infantile mitochondrial myopathy |
| GARD:3788 |
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome |
| GARD:17865 |
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| GARD:21925 |
Lethal multiple congenital anomalies/dysmorphic syndrome |
| GARD:3834 |
Lethal multiple pterygium syndrome |
| GARD:17718 |
Lethal neonatal spasticity-epileptic encephalopathy syndrome |
| GARD:17348 |
Lethal occipital encephalocele-skeletal dysplasia syndrome |
| GARD:4079 |
Lethal omphalocele-cleft palate syndrome |
| GARD:282 |
Lethal osteosclerotic bone dysplasia |
| GARD:17110 |
Lethal polymalformative syndrome, Boissel type |
| GARD:18034 |
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome |
| GARD:18036 |
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation |
| GARD:18037 |
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster |
| GARD:3399 |
Lethal recessive chondrodysplasia |
| GARD:22199 |
Letrozole toxicity |
| GARD:15467 |
Leukemia, chronic lymphocytic, susceptibility to, 1 |
| GARD:15042 |
Leukemia, chronic lymphocytic, susceptibility to, 2 |
| GARD:15565 |
Leukemia, chronic lymphocytic, susceptibility to, 3 |
| GARD:15566 |
Leukemia, chronic lymphocytic, susceptibility to, 4 |
| GARD:15567 |
Leukemia, chronic lymphocytic, susceptibility to, 5 |
| GARD:16616 |
Leukocyte adhesion deficiency |
| GARD:6893 |
Leukocyte adhesion deficiency type I |
| GARD:4634 |
Leukocyte adhesion deficiency type II |
| GARD:16915 |
Leukocyte adhesion deficiency type III |
| GARD:6895 |
Leukodystrophy |
| GARD:18088 |
Leukodystrophy, hypomyelinating, 11 |
| GARD:16266 |
Leukodystrophy, hypomyelinating, 14 |
| GARD:15557 |
Leukodystrophy, hypomyelinating, 6 |
| GARD:18087 |
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism |
| GARD:18624 |
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism |
| GARD:19917 |
Leukoencephalopathy with bilateral anterior temporal lobe cysts |
| GARD:12652 |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| GARD:10732 |
Leukoencephalopathy with calcifications and cysts |
| GARD:17565 |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
| GARD:18252 |
Leukoencephalopathy, progressive, with ovarian failure |
| GARD:12471 |
Leukoencephalopathy-dystonia-motor neuropathy syndrome |
| GARD:3232 |
Leukoencephalopathy-palmoplantar keratoderma syndrome |
| GARD:4891 |
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome |
| GARD:12893 |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
| GARD:2044 |
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome |
| GARD:9759 |
Leukonychia totalis |
| GARD:20448 |
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome |
| GARD:12032 |
Levocardia |
| GARD:13070 |
Lewis-Sumner syndrome |
| GARD:3244 |
Leydig cell hypoplasia |
| GARD:10127 |
Leydig cell hypoplasia due to LHB deficiency |
| GARD:16851 |
Leydig cell hypoplasia due to complete LH resistance |
| GARD:16852 |
Leydig cell hypoplasia due to partial LH resistance |
| GARD:6901 |
Lhermitte-Duclos disease |
| GARD:6902 |
Li-Fraumeni syndrome |
| GARD:16263 |
Li-fraumeni syndrome 2 |
| GARD:18526 |
Li-ghorbani-weisz-hubshman syndrome |
| GARD:18839 |
Lichen amyloidosis |
| GARD:21709 |
Lichen myxedematosus |
| GARD:3247 |
Lichen planopilaris |
| GARD:12677 |
Lichen planus pemphigoides |
| GARD:10816 |
Lichen planus pigmentosus |
| GARD:3248 |
Lichtenstein syndrome |
| GARD:7381 |
Liddle syndrome |
| GARD:19223 |
Light and heavy chain deposition disease |
| GARD:6906 |
Light chain deposition disease |
| GARD:3251 |
Limb body wall complex |
| GARD:6907 |
Limb-girdle muscular dystrophy |
| GARD:17769 |
Limb-girdle muscular dystrophy due to POMK deficiency |
| GARD:10051 |
Limb-mammary syndrome |
| GARD:20123 |
Limbal stem cell deficiency |
| GARD:1053 |
Limited cutaneous systemic sclerosis |
| GARD:9749 |
Limited systemic sclerosis |
| GARD:18834 |
Linear IgA dermatosis |
| GARD:11004 |
Linear and whorled nevoid hypermelanosis |
| GARD:19932 |
Linear atrophoderma of Moulin |
| GARD:20579 |
Linear focal elastosis |
| GARD:22358 |
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
| GARD:11898 |
Linear lichen planus |
| GARD:10291 |
Linear nevus sebaceus syndrome |
| GARD:15272 |
Linear skin defects with multiple congenital anomalies 2 |
| GARD:15276 |
Linear skin defects with multiple congenital anomalies 3 |
| GARD:3259 |
Linear verrucous nevus syndrome |
| GARD:12511 |
Lipid storage disease |
| GARD:12015 |
Lipoblastoma |
| GARD:12604 |
Lipodystrophy due to peptidic growth factors deficiency |
| GARD:84 |
Lipodystrophy, congenital generalized, type 1 |
| GARD:10212 |
Lipodystrophy, congenital generalized, type 2 |
| GARD:13389 |
Lipodystrophy, congenital generalized, type 3 |
| GARD:10937 |
Lipodystrophy, congenital generalized, type 4 |
| GARD:18038 |
Lipodystrophy, familial partial, type 7 |
| GARD:16646 |
Lipodystrophy-intellectual disability-deafness syndrome |
| GARD:12679 |
Lipoic acid biosynthesis defect |
| GARD:12678 |
Lipoic acid synthetase deficiency |
| GARD:3268 |
Lipoid proteinosis |
| GARD:20972 |
Lipoma associated with neurospinal dysraphism |
| GARD:10053 |
Lipomyelomeningocele |
| GARD:17504 |
Lipoprotein glomerulopathy |
| GARD:6913 |
Liposarcoma |
| GARD:12680 |
Lipoyl transferase 1 deficiency |
| GARD:21872 |
Lipoyl transferase 2 deficiency |
| GARD:16877 |
Lisch epithelial corneal dystrophy |
| GARD:12291 |
Lissencephaly |
| GARD:16838 |
Lissencephaly due to LIS1 mutation |
| GARD:17066 |
Lissencephaly due to TUBA1A mutation |
| GARD:16780 |
Lissencephaly syndrome, Norman-Roberts type |
| GARD:6914 |
Lissencephaly type 1 due to doublecortin gene mutation |
| GARD:19821 |
Lissencephaly type 3 |
| GARD:19067 |
Lissencephaly type 3-familial fetal akinesia sequence syndrome |
| GARD:16763 |
Lissencephaly type 3-metacarpal bone dysplasia syndrome |
| GARD:19068 |
Lissencephaly with cerebellar hypoplasia |
| GARD:19731 |
Lissencephaly with cerebellar hypoplasia type A |
| GARD:19732 |
Lissencephaly with cerebellar hypoplasia type B |
| GARD:19733 |
Lissencephaly with cerebellar hypoplasia type C |
| GARD:19734 |
Lissencephaly with cerebellar hypoplasia type D |
| GARD:19735 |
Lissencephaly with cerebellar hypoplasia type E |
| GARD:19736 |
Lissencephaly with cerebellar hypoplasia type F |
| GARD:6915 |
Listeriosis |
| GARD:12784 |
Livedoid vasculopathy |
| GARD:22278 |
Liver adenomatosis |
| GARD:16830 |
Lobar holoprosencephaly |
| GARD:22388 |
Localized dystrophic epidermolysis bullosa |
| GARD:20031 |
Localized dystrophic epidermolysis bullosa, acral form |
| GARD:20032 |
Localized dystrophic epidermolysis bullosa, nails only |
| GARD:2155 |
Localized dystrophic epidermolysis bullosa, pretibial form |
| GARD:2146 |
Localized epidermolysis bullosa simplex |
| GARD:12923 |
Localized junctional epidermolysis bullosa |
| GARD:7321 |
Localized lichen myxedematosus |
| GARD:19142 |
Localized lichen myxedematosus with mixed features of different subtypes |
| GARD:19143 |
Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms |
| GARD:5867 |
Localized lipodystrophy |
| GARD:20155 |
Localized pagetoid reticulosis |
| GARD:7058 |
Localized scleroderma |
| GARD:6919 |
Locked-in syndrome |
| GARD:18929 |
Loeffler endocarditis |
| GARD:10788 |
Loeys-Dietz syndrome |
| GARD:9458 |
Loeys-dietz syndrome 1 |
| GARD:10586 |
Loeys-dietz syndrome 2 |
| GARD:10588 |
Loeys-dietz syndrome 4 |
| GARD:12356 |
Loeys-dietz syndrome 5 |
| GARD:10791 |
Logopenic progressive aphasia |
| GARD:3283 |
Loiasis |
| GARD:6867 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| GARD:10436 |
Long qt syndrome 10 |
| GARD:10437 |
Long qt syndrome 11 |
| GARD:15595 |
Long qt syndrome 12 |
| GARD:15666 |
Long qt syndrome 13 |
| GARD:16073 |
Long qt syndrome 14 |
| GARD:16074 |
Long qt syndrome 15 |
| GARD:3285 |
Long qt syndrome 2 |
| GARD:3286 |
Long qt syndrome 3 |
| GARD:10433 |
Long qt syndrome 5 |
| GARD:10434 |
Long qt syndrome 6 |
| GARD:10435 |
Long qt syndrome 9 |
| GARD:22024 |
Longitudinal limb defect |
| GARD:20190 |
Longitudinal vaginal septum |
| GARD:3287 |
Loose anagen syndrome |
| GARD:16683 |
Low phospholipid-associated cholelithiasis |
| GARD:19933 |
Low-flow priapism |
| GARD:20706 |
Low-grade astrocytoma |
| GARD:20483 |
Low-grade neuroendocrine tumor of the corpus uteri |
| GARD:1695 |
Lowe-Kohn-Cohen syndrome |
| GARD:21213 |
Lower limb hypertrophy |
| GARD:18773 |
Lower limb malformation-hypospadias syndrome |
| GARD:19940 |
Lower lip fistula |
| GARD:17282 |
Lower motor neuron syndrome with late-adult onset |
| GARD:16550 |
Lown-Ganong-Levine syndrome |
| GARD:3300 |
Lowry-MacLean syndrome |
| GARD:264 |
Lowry-Wood syndrome |
| GARD:3307 |
Lujan-Fryns syndrome |
| GARD:21410 |
Lujo hemorrhagic fever |
| GARD:20954 |
Lumbosacral spina bifida aperta |
| GARD:20961 |
Lumbosacral spina bifida cystica |
| GARD:3378 |
Lung agenesis-heart defect-thumb anomalies syndrome |
| GARD:16947 |
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome |
| GARD:19133 |
Lupus erythematosus panniculitis |
| GARD:13003 |
Lupus erythematosus tumidus |
| GARD:13789 |
Luscan-Lumish syndrome |
| GARD:19170 |
Lyme disease |
| GARD:3319 |
Lymphangioleiomyomatosis |
| GARD:3321 |
Lymphatic filariasis |
| GARD:3328 |
Lymphatic malformation 1 |
| GARD:16453 |
Lymphatic malformation 2 |
| GARD:16456 |
Lymphatic malformation 3 |
| GARD:16468 |
Lymphatic malformation 4 |
| GARD:284 |
Lymphedema-atrial septal defects-facial changes syndrome |
| GARD:9217 |
Lymphedema-cerebral arteriovenous anomaly syndrome |
| GARD:333 |
Lymphedema-distichiasis syndrome |
| GARD:16898 |
Lymphedema-posterior choanal atresia syndrome |
| GARD:21397 |
Lymphocytic hypereosinophilic syndrome |
| GARD:21151 |
Lymphoepithelial-like carcinoma |
| GARD:20131 |
Lymphoid hemopathy |
| GARD:16700 |
Lymphoid interstitial pneumonia |
| GARD:15194 |
Lymphokine deficiency |
| GARD:20548 |
Lymphoma |
| GARD:6943 |
Lymphomatoid granulomatosis |
| GARD:6944 |
Lymphomatoid papulosis |
| GARD:22240 |
Lymphoplasmacytic inflammatory pseudotumor of the liver |
| GARD:21851 |
Lymphoplasmacytic lymphoma without IgM production |
| GARD:16855 |
Lymphoproliferative disease associated with primary immune disease |
| GARD:20633 |
Lymphoproliferative syndrome |
| GARD:9905 |
Lynch syndrome |
| GARD:15052 |
Lynch syndrome i |
| GARD:3335 |
Lysinuric protein intolerance |
| GARD:12097 |
Lysosomal acid lipase deficiency |
| GARD:16636 |
Lysosomal acid phosphatase deficiency |
| GARD:18884 |
Lysosomal disease |
| GARD:20550 |
Lysosomal disease with epilepsy |
| GARD:20520 |
Lysosomal disease with hypertrophic cardiomyopathy |
| GARD:20533 |
Lysosomal disease with restrictive cardiomyopathy |
| GARD:21333 |
Lysosomal glycogen storage disease |
| GARD:19203 |
Lysosomal storage disease with skeletal involvement |
| GARD:3224 |
Léri-Weill dyschondrosteosis |
| GARD:13316 |
MAGEL2-related Prader-Willi-like syndrome |
| GARD:13371 |
MAGIC syndrome |
| GARD:6485 |
MALT lymphoma |
| GARD:12417 |
MAN1B1-CDG |
| GARD:6986 |
MASA syndrome |
| GARD:17072 |
MEDNIK syndrome |
| GARD:12963 |
MEGDEL syndrome |
| GARD:9178 |
MEHMO syndrome |
| GARD:7009 |
MELAS |
| GARD:17666 |
MEND syndrome |
| GARD:13488 |
MEPAN syndrome |
| GARD:7144 |
MERRF |
| GARD:17881 |
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect |
| GARD:9828 |
MGAT2-CDG |
| GARD:22495 |
MIR140-related spondyloepiphyseal dysplasia |
| GARD:13108 |
MIRAGE syndrome |
| GARD:17343 |
MITF-related melanoma and renal cell carcinoma predisposition syndrome |
| GARD:17916 |
MME-related autosomal dominant Charcot Marie Tooth disease type 2 |
| GARD:3693 |
MMEP syndrome |
| GARD:3697 |
MODY |
| GARD:10767 |
MOGS-CDG |
| GARD:178 |
MOMO syndrome |
| GARD:10121 |
MORM syndrome |
| GARD:9832 |
MPDU1-CDG |
| GARD:9830 |
MPI-CDG |
| GARD:17255 |
MRCS syndrome |
| GARD:17868 |
MSH3-related attenuated familial adenomatous polyposis |
| GARD:21433 |
MT-ATP6-related mitochondrial spastic paraplegia |
| GARD:18018 |
MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome |
| GARD:7002 |
MUC1-related autosomal dominant tubulointerstitial kidney disease |
| GARD:10805 |
MUTYH-related attenuated familial adenomatous polyposis |
| GARD:22035 |
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome |
| GARD:10313 |
MYH7-related late-onset scapuloperoneal muscular dystrophy |
| GARD:180 |
MYH9-related disease |
| GARD:21972 |
MYO5B-related progressive familial intrahepatic cholestasis |
| GARD:21048 |
Machado-Joseph disease type 1 |
| GARD:21049 |
Machado-Joseph disease type 2 |
| GARD:21050 |
Machado-Joseph disease type 3 |
| GARD:17630 |
Macrocephaly-developmental delay syndrome |
| GARD:17112 |
Macrocephaly-intellectual disability-autism syndrome |
| GARD:17832 |
Macrocephaly-intellectual disability-left ventricular non compaction syndrome |
| GARD:13636 |
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
| GARD:172 |
Macrocephaly-short stature-paraplegia syndrome |
| GARD:16598 |
Macrocephaly-spastic paraplegia-dysmorphism syndrome |
| GARD:6010 |
Macrocystic lymphatic malformation |
| GARD:8529 |
Macrodactyly of fingers |
| GARD:21228 |
Macrodactyly of fingers, bilateral |
| GARD:21227 |
Macrodactyly of fingers, unilateral |
| GARD:6951 |
Macrodactyly of toes |
| GARD:21230 |
Macrodactyly of toes, bilateral |
| GARD:21229 |
Macrodactyly of toes, unilateral |
| GARD:15486 |
Macroglobulinemia, waldenstrom, susceptibility to, 2 |
| GARD:3342 |
Macroglossia |
| GARD:12124 |
Macrophage activation syndrome |
| GARD:19442 |
Macrophage or histiocytic tumor |
| GARD:176 |
Macrophagic myofasciitis |
| GARD:177 |
Macrosomia-microphthalmia-cleft palate syndrome |
| GARD:19044 |
Macrostomia-preauricular tags-external ophthalmoplegia syndrome |
| GARD:20538 |
Macrothrombocytopenia with mitral valve insufficiency |
| GARD:18271 |
Macrothrombocytopenia, isolated, 1, autosomal dominant |
| GARD:17884 |
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome |
| GARD:19885 |
Macular amyloidosis |
| GARD:16802 |
Macular coloboma-cleft palate-hallux valgus syndrome |
| GARD:6953 |
Macular corneal dystrophy |
| GARD:15268 |
Macular degeneration, x-linked atrophic |
| GARD:18237 |
Macular dystrophy, patterned, 1 |
| GARD:18238 |
Macular dystrophy, patterned, 2 |
| GARD:10120 |
Macular dystrophy, vitelliform, 1 |
| GARD:16064 |
Macular dystrophy, vitelliform, 4 |
| GARD:16065 |
Macular dystrophy, vitelliform, 5 |
| GARD:16723 |
Maculopapular cutaneous mastocytosis |
| GARD:19887 |
Madras motor neuron disease |
| GARD:6958 |
Maffucci syndrome |
| GARD:10088 |
Majeed syndrome |
| GARD:92 |
Mal de Meleda |
| GARD:6959 |
Mal de débarquement |
| GARD:6960 |
Malakoplakia |
| GARD:13811 |
Malan overgrowth syndrome |
| GARD:6961 |
Malaria |
| GARD:4899 |
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome |
| GARD:17971 |
Male infertility due to acephalic spermatozoa |
| GARD:12502 |
Male infertility due to globozoospermia |
| GARD:19445 |
Male infertility due to gonadal dysgenesis |
| GARD:21673 |
Male infertility due to gonadal dysgenesis or sperm disorder |
| GARD:12385 |
Male infertility due to large-headed multiflagellar polyploid spermatozoa |
| GARD:19446 |
Male infertility due to obstructive azoospermia |
| GARD:21688 |
Male infertility due to obstructive azoospermia of genetic origin |
| GARD:21674 |
Male infertility due to sperm disorder |
| GARD:21676 |
Male infertility due to sperm motility disorder |
| GARD:8530 |
Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| GARD:21675 |
Male infertility with spermatogenesis disorder |
| GARD:12513 |
Male infertility with spermatogenesis disorder due to single gene mutation |
| GARD:17654 |
Male infertility with teratozoospermia due to single gene mutation |
| GARD:19481 |
Malformation of the cerebellar hemispheres |
| GARD:19480 |
Malformation of the cerebellar vermis |
| GARD:20974 |
Malformation of the neurenteric canal, spinal cord and column |
| GARD:19431 |
Malformation syndrome with hamartosis |
| GARD:19909 |
Malformation syndrome with odontal and/or periodontal component |
| GARD:19902 |
Malformation syndrome with short stature |
| GARD:20209 |
Malformative syndrome with dentinogenesis imperfecta |
| GARD:19707 |
Maligant granulosa cell tumor of the ovary |
| GARD:21138 |
Malignancy diagnosed during pregnancy |
| GARD:5495 |
Malignant Sertoli-Leydig cell tumor of the ovary |
| GARD:6249 |
Malignant atrophic papulosis |
| GARD:19705 |
Malignant dysgerminomatous germ cell tumor of the ovary |
| GARD:9362 |
Malignant epithelial tumor of ovary |
| GARD:21043 |
Malignant epithelial tumor of salivary glands |
| GARD:9330 |
Malignant germ cell tumor of ovary |
| GARD:20501 |
Malignant germ cell tumor of the cervix uteri |
| GARD:20485 |
Malignant germ cell tumor of the corpus uteri |
| GARD:20347 |
Malignant germ cell tumor of the vagina |
| GARD:6964 |
Malignant hyperthermia of anesthesia |
| GARD:3363 |
Malignant hyperthermia, susceptibility to, 1 |
| GARD:3364 |
Malignant hyperthermia, susceptibility to, 2 |
| GARD:3365 |
Malignant hyperthermia, susceptibility to, 3 |
| GARD:3366 |
Malignant hyperthermia, susceptibility to, 4 |
| GARD:3367 |
Malignant hyperthermia, susceptibility to, 5 |
| GARD:3368 |
Malignant hyperthermia, susceptibility to, 6 |
| GARD:20387 |
Malignant lymphoma with peripheral neuropathy |
| GARD:20110 |
Malignant melanoma of the mucosa |
| GARD:12919 |
Malignant migrating focal seizures of infancy |
| GARD:7296 |
Malignant mixed Müllerian tumor of the ovary |
| GARD:20490 |
Malignant mixed epithelial and mesenchymal tumor of cervix uteri |
| GARD:20472 |
Malignant mixed epithelial and mesenchymal tumor of corpus uteri |
| GARD:20349 |
Malignant non-dysgerminomatous germ cell tumor of ovary |
| GARD:21650 |
Malignant non-epithelial tumor of ovary |
| GARD:10872 |
Malignant peripheral nerve sheath tumor |
| GARD:20741 |
Malignant peripheral nerve sheath tumor with perineurial differentiation |
| GARD:20102 |
Malignant peritoneal mesothelioma |
| GARD:18816 |
Malignant sex cord stromal tumor of ovary |
| GARD:21654 |
Malignant teratoma of ovary |
| GARD:20743 |
Malignant triton tumor |
| GARD:20204 |
Malignant tumor of fallopian tubes |
| GARD:9366 |
Malignant tumor of penis |
| GARD:3371 |
Malonic aciduria |
| GARD:19645 |
Malposition of a coronary ostium |
| GARD:17180 |
Mammary-digital-nail syndrome |
| GARD:19957 |
Mandibular arteriovenous malformation |
| GARD:10989 |
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome |
| GARD:11893 |
Mandibuloacral dysplasia |
| GARD:3374 |
Mandibuloacral dysplasia with type A lipodystrophy |
| GARD:9989 |
Mandibuloacral dysplasia with type B lipodystrophy |
| GARD:19980 |
Mandibulofacial dysostosis |
| GARD:17758 |
Mandibulofacial dysostosis with alopecia |
| GARD:17547 |
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome |
| GARD:10056 |
Mandibulofacial dysostosis-microcephaly syndrome |
| GARD:21264 |
Manganese poisoning |
| GARD:8216 |
Mansonelliasis |
| GARD:6969 |
Mantle cell lymphoma |
| GARD:3228 |
Maple syrup urine disease |
| GARD:18388 |
Maple syrup urine disease, mild variant |
| GARD:20572 |
Marburg acute multiple sclerosis |
| GARD:9444 |
Marburg hemorrhagic fever |
| GARD:6971 |
Marchiafava-Bignami disease |
| GARD:6972 |
Marcus-Gunn syndrome |
| GARD:6973 |
Marden-Walker syndrome |
| GARD:16535 |
Marfan syndrome |
| GARD:21129 |
Marfan syndrome and Marfan-related disorders |
| GARD:6975 |
Marfan syndrome type 1 |
| GARD:17318 |
Marfan syndrome type 2 |
| GARD:3388 |
Marfanoid habitus-autosomal recessive intellectual disability syndrome |
| GARD:21368 |
Marfanoid habitus-inguinal hernia-advanced bone age syndrome |
| GARD:3401 |
Marfanoid syndrome, De Silva type |
| GARD:21298 |
Marginal papular palmoplantar keratoderma |
| GARD:13237 |
Marginal zone lymphoma |
| GARD:3390 |
Marie Unna hereditary hypotrichosis |
| GARD:19779 |
Marin-Amat syndrome |
| GARD:8341 |
Marinesco-Sjögren syndrome |
| GARD:6984 |
Marshall syndrome |
| GARD:6985 |
Marshall-Smith syndrome |
| GARD:17826 |
Martinique crinkled retinal pigment epitheliopathy |
| GARD:19598 |
Mast cell leukemia |
| GARD:18870 |
Mast cell sarcoma |
| GARD:6987 |
Mastocytosis |
| GARD:20702 |
Maternal disease-related embryofetopathy |
| GARD:2856 |
Maternal hyperthermia-induced birth defects |
| GARD:3413 |
Maternal phenylketonuria |
| GARD:17686 |
Maternal riboflavin deficiency |
| GARD:19424 |
Maternal uniparental disomy |
| GARD:20689 |
Maternal uniparental disomy of chromosome 1 |
| GARD:19382 |
Maternal uniparental disomy of chromosome 13 |
| GARD:19336 |
Maternal uniparental disomy of chromosome 16 |
| GARD:19331 |
Maternal uniparental disomy of chromosome 2 |
| GARD:16849 |
Maternal uniparental disomy of chromosome 20 |
| GARD:19337 |
Maternal uniparental disomy of chromosome 21 |
| GARD:19338 |
Maternal uniparental disomy of chromosome 22 |
| GARD:19332 |
Maternal uniparental disomy of chromosome 4 |
| GARD:19333 |
Maternal uniparental disomy of chromosome 6 |
| GARD:19335 |
Maternal uniparental disomy of chromosome 9 |
| GARD:20783 |
Maternal uniparental disomy of chromosome X |
| GARD:4003 |
Maternally-inherited diabetes and deafness |
| GARD:713 |
Matthew-Wood syndrome |
| GARD:15392 |
Maturity-onset diabetes of the young |
| GARD:3418 |
Maturity-onset diabetes of the young, type 1 |
| GARD:15652 |
Maturity-onset diabetes of the young, type 10 |
| GARD:15653 |
Maturity-onset diabetes of the young, type 11 |
| GARD:16090 |
Maturity-onset diabetes of the young, type 13 |
| GARD:16128 |
Maturity-onset diabetes of the young, type 14 |
| GARD:10657 |
Maturity-onset diabetes of the young, type 2 |
| GARD:10658 |
Maturity-onset diabetes of the young, type 3 |
| GARD:10659 |
Maturity-onset diabetes of the young, type 4 |
| GARD:10660 |
Maturity-onset diabetes of the young, type 6 |
| GARD:10661 |
Maturity-onset diabetes of the young, type 7 |
| GARD:10662 |
Maturity-onset diabetes of the young, type 8, with exocrine dysfunction |
| GARD:10663 |
Maturity-onset diabetes of the young, type 9 |
| GARD:19956 |
Maxillary arteriovenous malformation |
| GARD:6992 |
Maxillonasal dysplasia |
| GARD:5445 |
Mayer-Rokitansky-Küster-Hauser syndrome |
| GARD:4737 |
Mayer-Rokitansky-Küster-Hauser syndrome type 1 |
| GARD:5513 |
Mayer-Rokitansky-Küster-Hauser syndrome type 2 |
| GARD:18853 |
Mazabraud syndrome |
| GARD:6995 |
McCune-Albright syndrome |
| GARD:3424 |
McDonough syndrome |
| GARD:3427 |
McKusick-Kaufman syndrome |
| GARD:10731 |
McLeod neuroacanthocytosis syndrome |
| GARD:3432 |
Meacham syndrome |
| GARD:3436 |
Meckel syndrome |
| GARD:16236 |
Meckel syndrome 13 |
| GARD:15957 |
Meckel syndrome, type 11 |
| GARD:8743 |
Meckel syndrome, type 2 |
| GARD:8744 |
Meckel syndrome, type 3 |
| GARD:15509 |
Meckel syndrome, type 4 |
| GARD:15520 |
Meckel syndrome, type 5 |
| GARD:15548 |
Meckel syndrome, type 6 |
| GARD:15727 |
Meckel syndrome, type 8 |
| GARD:15773 |
Meckel syndrome, type 9 |
| GARD:10494 |
Meconium aspiration syndrome |
| GARD:10910 |
Medial condensing osteitis of the clavicle |
| GARD:18756 |
Median cleft lip/mandibule |
| GARD:19966 |
Median cleft of the upper lip and maxilla |
| GARD:19965 |
Median facial cleft |
| GARD:3440 |
Median nodule of the upper lip |
| GARD:21598 |
Medich giant platelet syndrome |
| GARD:540 |
Medium chain acyl-CoA dehydrogenase deficiency |
| GARD:19815 |
Medullar disease |
| GARD:232 |
Medullary sponge kidney |
| GARD:7004 |
Medullary thyroid carcinoma |
| GARD:7005 |
Medulloblastoma |
| GARD:17214 |
Medulloblastoma with extensive nodularity |
| GARD:20721 |
Medulloepithelioma of the central nervous system |
| GARD:9688 |
Meesmann corneal dystrophy |
| GARD:19355 |
Mega-cisterna magna |
| GARD:10317 |
Megaconial congenital muscular dystrophy |
| GARD:20638 |
Megacystis-megaureter syndrome |
| GARD:3442 |
Megacystis-microcolon-intestinal hypoperistalsis syndrome |
| GARD:15195 |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 |
| GARD:16447 |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 |
| GARD:21712 |
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) |
| GARD:3445 |
Megalencephalic leukoencephalopathy with subcortical cysts |
| GARD:15728 |
Megalencephalic leukoencephalopathy with subcortical cysts 2a |
| GARD:15729 |
Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation |
| GARD:16601 |
Megalencephaly |
| GARD:6950 |
Megalencephaly-capillary malformation-polymicrogyria syndrome |
| GARD:18077 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
| GARD:18078 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| GARD:18079 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
| GARD:10341 |
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome |
| GARD:17805 |
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome |
| GARD:3448 |
Megalocornea-intellectual disability syndrome |
| GARD:15162 |
Meier-gorlin syndrome 1 |
| GARD:15708 |
Meier-gorlin syndrome 2 |
| GARD:15710 |
Meier-gorlin syndrome 3 |
| GARD:15711 |
Meier-gorlin syndrome 4 |
| GARD:15712 |
Meier-gorlin syndrome 5 |
| GARD:16163 |
Meier-gorlin syndrome 6 |
| GARD:16181 |
Meier-gorlin syndrome 7 |
| GARD:3324 |
Meige disease |
| GARD:21372 |
Meigs syndrome |
| GARD:8468 |
Melanoma and neural system tumor syndrome |
| GARD:19367 |
Melanoma of soft tissue |
| GARD:18472 |
Melanoma, cutaneous malignant, susceptibility to, 1 |
| GARD:18582 |
Melanoma, cutaneous malignant, susceptibility to, 10 |
| GARD:18575 |
Melanoma, cutaneous malignant, susceptibility to, 2 |
| GARD:18578 |
Melanoma, cutaneous malignant, susceptibility to, 3 |
| GARD:18577 |
Melanoma, cutaneous malignant, susceptibility to, 4 |
| GARD:18579 |
Melanoma, cutaneous malignant, susceptibility to, 5 |
| GARD:18580 |
Melanoma, cutaneous malignant, susceptibility to, 6 |
| GARD:18581 |
Melanoma, cutaneous malignant, susceptibility to, 9 |
| GARD:18576 |
Melanoma, malignant familial intraocular |
| GARD:15394 |
Melanoma, uveal, susceptibility to, 1 |
| GARD:15395 |
Melanoma, uveal, susceptibility to, 2 |
| GARD:18473 |
Melanoma-pancreatic cancer syndrome |
| GARD:3462 |
Melhem-Fahl syndrome |
| GARD:9546 |
Melioidosis |
| GARD:15986 |
Melioidosis, susceptibility to |
| GARD:7010 |
Melkersson-Rosenthal syndrome |
| GARD:7011 |
Melnick-Needles syndrome |
| GARD:9474 |
Melorheostosis |
| GARD:3690 |
Melorheostosis with osteopoikilosis |
| GARD:12977 |
Mendelian susceptibility to mycobacterial diseases |
| GARD:9185 |
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency |
| GARD:17457 |
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency |
| GARD:12976 |
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| GARD:10984 |
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| GARD:17458 |
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| GARD:17463 |
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency |
| GARD:17462 |
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency |
| GARD:20740 |
Meningeal melanocytoma |
| GARD:7015 |
Meningioma |
| GARD:18385 |
Meningioma, familial, susceptibility to |
| GARD:8491 |
Meningioma, radiation-induced |
| GARD:18809 |
Meningococcal meningitis |
| GARD:22371 |
Menke-Hennekam syndrome |
| GARD:1521 |
Menkes disease |
| GARD:22017 |
Menstrual cycle-dependent periodic fever |
| GARD:22681 |
Mental retardation, x-linked 82 |
| GARD:22692 |
Mental retardation, x-linked 88 |
| GARD:22688 |
Mental retardation, x-linked 89 |
| GARD:22691 |
Mental retardation, x-linked 92 |
| GARD:7021 |
Mercury poisoning |
| GARD:21761 |
Mesenchymal tumor of small intestine |
| GARD:19684 |
Mesial temporal lobe epilepsy with hippocampal sclerosis |
| GARD:10590 |
Mesoaxial synostotic syndactyly with phalangeal reduction |
| GARD:19259 |
Mesocardia |
| GARD:4302 |
Mesomelia-synostoses syndrome |
| GARD:19195 |
Mesomelic and rhizo-mesomelic dysplasia |
| GARD:3555 |
Mesomelic dwarfism, Reinhardt-Pfeiffer type |
| GARD:3552 |
Mesomelic dwarfism-cleft palate-camptodactyly syndrome |
| GARD:3074 |
Mesomelic dysplasia, Kantaputra type |
| GARD:3554 |
Mesomelic dysplasia, Nievergelt type |
| GARD:10584 |
Mesomelic dysplasia, Savarirayan type |
| GARD:21321 |
Metabolic disease due to other fatty acid oxidation disorder |
| GARD:18979 |
Metabolic disease involving other neurotransmitter deficiency |
| GARD:19529 |
Metabolic disease with cataract |
| GARD:19490 |
Metabolic disease with dementia |
| GARD:19850 |
Metabolic disease with intestinal involvement |
| GARD:19015 |
Metabolic disease with skin involvement |
| GARD:20089 |
Metabolic diseases with epilepsy |
| GARD:19472 |
Metabolic myopathy |
| GARD:17067 |
Metabolic myopathy due to lactate transporter defect |
| GARD:20557 |
Metabolic neurotransmission anomaly with epilepsy |
| GARD:3560 |
Metachondromatosis |
| GARD:3230 |
Metachromatic leukodystrophy |
| GARD:21330 |
Metachromatic leukodystrophy, adult form |
| GARD:21329 |
Metachromatic leukodystrophy, juvenile form |
| GARD:21328 |
Metachromatic leukodystrophy, late infantile form |
| GARD:20553 |
Metal transport or utilization disorder with epilepsy |
| GARD:3519 |
Metaphyseal acroscyphodysplasia |
| GARD:3562 |
Metaphyseal anadysplasia |
| GARD:15610 |
Metaphyseal anadysplasia 2 |
| GARD:79 |
Metaphyseal chondrodysplasia, Jansen type |
| GARD:17018 |
Metaphyseal chondrodysplasia, Kaitila type |
| GARD:7029 |
Metaphyseal chondrodysplasia, Schmid type |
| GARD:3563 |
Metaphyseal chondrodysplasia, Spahr type |
| GARD:16902 |
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria |
| GARD:3566 |
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome |
| GARD:16738 |
Metaphyseal dysplasia, Braun-Tinschert type |
| GARD:3568 |
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome |
| GARD:10804 |
Metaplastic carcinoma of the breast |
| GARD:3571 |
Metatropic dysplasia |
| GARD:18804 |
Methanol poisoning |
| GARD:3909 |
Methemoglobin reductase deficiency |
| GARD:15196 |
Methemoglobinemia and ambiguous genitalia |
| GARD:15197 |
Methemoglobinemia due to deficiency of methemoglobin reductase |
| GARD:16277 |
Methemoglobinemia, alpha type |
| GARD:16276 |
Methemoglobinemia, beta type |
| GARD:3573 |
Methimazole embryofetopathy |
| GARD:22269 |
Methotrexate toxicity |
| GARD:19083 |
Methotrexate-associated lymphoproliferative disorders |
| GARD:17385 |
Methylcobalamin deficiency type cblDv1 |
| GARD:3576 |
Methylcobalamin deficiency type cblE |
| GARD:3577 |
Methylcobalamin deficiency type cblG |
| GARD:17390 |
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
| GARD:3579 |
Methylmalonic acidemia with homocystinuria |
| GARD:3584 |
Methylmalonic acidemia with homocystinuria type cblF |
| GARD:12128 |
Methylmalonic acidemia with homocystinuria, type cblC |
| GARD:3582 |
Methylmalonic acidemia with homocystinuria, type cblD |
| GARD:12621 |
Methylmalonic acidemia with homocystinuria, type cblJ |
| GARD:13137 |
Methylmalonic acidemia with homocystinuria, type cblX |
| GARD:13163 |
Methylmalonic acidemia without homocystinuria |
| GARD:16481 |
Methylmalonic aciduria due to transcobalamin receptor defect |
| GARD:22047 |
Metopic ridging-ptosis-facial dysmorphism syndrome |
| GARD:21315 |
Mevalonate kinase deficiency |
| GARD:3588 |
Mevalonic aciduria |
| GARD:17446 |
MiT family translocation renal cell carcinoma |
| GARD:5534 |
Micro syndrome |
| GARD:19497 |
Microblepharon-ablephara syndrome |
| GARD:3596 |
Microbrachycephaly-ptosis-cleft lip syndrome |
| GARD:17841 |
Microcephalic cortical malformations-short stature due to RTTN deficiency |
| GARD:16736 |
Microcephalic osteodysplastic dysplasia, Saul-Wilson type |
| GARD:9844 |
Microcephalic osteodysplastic primordial dwarfism type II |
| GARD:5120 |
Microcephalic osteodysplastic primordial dwarfism types I and III |
| GARD:15144 |
Microcephalic osteodysplastic primordial dwarfism, type i |
| GARD:15145 |
Microcephalic osteodysplastic primordial dwarfism, type iii |
| GARD:21450 |
Microcephalic primordial dwarfism |
| GARD:17498 |
Microcephalic primordial dwarfism due to ZNF335 deficiency |
| GARD:17469 |
Microcephalic primordial dwarfism, Dauber type |
| GARD:895 |
Microcephalic primordial dwarfism, Montreal type |
| GARD:3602 |
Microcephalic primordial dwarfism, Toriello type |
| GARD:17728 |
Microcephalic primordial dwarfism-insulin resistance syndrome |
| GARD:15198 |
Microcephaly 1, primary, autosomal recessive |
| GARD:16057 |
Microcephaly 12, primary, autosomal recessive |
| GARD:16054 |
Microcephaly 13, primary, autosomal recessive |
| GARD:16105 |
Microcephaly 14, primary, autosomal recessive |
| GARD:16151 |
Microcephaly 16, primary, autosomal recessive |
| GARD:16186 |
Microcephaly 17, primary, autosomal recessive |
| GARD:16233 |
Microcephaly 18, primary, autosomal dominant |
| GARD:16253 |
Microcephaly 19, primary, autosomal recessive |
| GARD:15366 |
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
| GARD:16268 |
Microcephaly 20, primary, autosomal recessive |
| GARD:16278 |
Microcephaly 21, primary, autosomal recessive |
| GARD:16279 |
Microcephaly 22, primary, autosomal recessive |
| GARD:16280 |
Microcephaly 23, primary, autosomal recessive |
| GARD:16302 |
Microcephaly 24, primary, autosomal recessive |
| GARD:16346 |
Microcephaly 25, primary, autosomal recessive |
| GARD:16432 |
Microcephaly 26, primary, autosomal dominant |
| GARD:16433 |
Microcephaly 27, primary, autosomal dominant |
| GARD:15373 |
Microcephaly 3, primary, autosomal recessive |
| GARD:15367 |
Microcephaly 4, primary, autosomal recessive |
| GARD:15441 |
Microcephaly 5, primary, autosomal recessive |
| GARD:15431 |
Microcephaly 6, primary, autosomal recessive |
| GARD:15580 |
Microcephaly 7, primary, autosomal recessive |
| GARD:15833 |
Microcephaly 8, primary, autosomal recessive |
| GARD:15855 |
Microcephaly 9, primary, autosomal recessive |
| GARD:18481 |
Microcephaly and chorioretinopathy, autosomal recessive, 1 |
| GARD:18482 |
Microcephaly and chorioretinopathy, autosomal recessive, 3 |
| GARD:15360 |
Microcephaly with simplified gyral pattern |
| GARD:18438 |
Microcephaly, epilepsy, and diabetes syndrome 1 |
| GARD:18439 |
Microcephaly, epilepsy, and diabetes syndrome 2 |
| GARD:18507 |
Microcephaly, growth restriction, and increased sister chromatid exchange 2 |
| GARD:10933 |
Microcephaly, seizures, and developmental delay |
| GARD:18459 |
Microcephaly, short stature, and impaired glucose metabolism 1 |
| GARD:18460 |
Microcephaly, short stature, and impaired glucose metabolism 2 |
| GARD:3604 |
Microcephaly-albinism-digital anomalies syndrome |
| GARD:5490 |
Microcephaly-brachydactyly-kyphoscoliosis syndrome |
| GARD:3607 |
Microcephaly-brain defect-spasticity-hypernatremia syndrome |
| GARD:17354 |
Microcephaly-capillary malformation syndrome |
| GARD:2098 |
Microcephaly-cardiac defect-lung malsegmentation syndrome |
| GARD:3609 |
Microcephaly-cardiomyopathy syndrome |
| GARD:17502 |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome |
| GARD:3610 |
Microcephaly-cervical spine fusion anomalies syndrome |
| GARD:8623 |
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome |
| GARD:21762 |
Microcephaly-complex motor and sensory axonal neuropathy syndrome |
| GARD:17886 |
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome |
| GARD:17924 |
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom |
| GARD:17803 |
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome |
| GARD:230 |
Microcephaly-deafness-intellectual disability syndrome |
| GARD:22145 |
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome |
| GARD:17116 |
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type |
| GARD:3615 |
Microcephaly-glomerulonephritis-marfanoid habitus syndrome |
| GARD:17804 |
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| GARD:3622 |
Microcephaly-lymphedema-chorioretinopathy syndrome |
| GARD:3627 |
Microcephaly-microcornea syndrome, Seemanova type |
| GARD:18011 |
Microcephaly-micromelia syndrome |
| GARD:20125 |
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome |
| GARD:18774 |
Microcephaly-seizures-intellectual disability-heart disease syndrome |
| GARD:21751 |
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome |
| GARD:18655 |
Microcephaly-short stature-limb abnormalities syndrome |
| GARD:17645 |
Microcephaly-thin corpus callosum-intellectual disability syndrome |
| GARD:18383 |
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 |
| GARD:3637 |
Microcornea-glaucoma-absent frontal sinuses syndrome |
| GARD:17593 |
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome |
| GARD:10938 |
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome |
| GARD:13020 |
Microcystic lymphatic malformation |
| GARD:22304 |
Microcystic stromal tumor |
| GARD:12360 |
Microcytic anemia with liver iron overload |
| GARD:12766 |
Microduplication Xp11.22p11.23 syndrome |
| GARD:17290 |
Microform holoprosencephaly |
| GARD:3640 |
Microgastria-limb reduction defect syndrome |
| GARD:17850 |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| GARD:16555 |
Microlissencephaly |
| GARD:18840 |
Microlissencephaly-micromelia syndrome |
| GARD:1404 |
Micromelic bone dysplasia with cloverleaf skull |
| GARD:3645 |
Microphthalmia with brain and digit anomalies |
| GARD:722 |
Microphthalmia with limb anomalies |
| GARD:3659 |
Microphthalmia with linear skin defects syndrome |
| GARD:87 |
Microphthalmia, Lenz type |
| GARD:18628 |
Microphthalmia, isolated 6 |
| GARD:16110 |
Microphthalmia, isolated, with coloboma 10 |
| GARD:15385 |
Microphthalmia, isolated, with coloboma 2 |
| GARD:15471 |
Microphthalmia, isolated, with coloboma 3 |
| GARD:15200 |
Microphthalmia, isolated, with coloboma 4 |
| GARD:15524 |
Microphthalmia, isolated, with coloboma 5 |
| GARD:15692 |
Microphthalmia, isolated, with coloboma 6 |
| GARD:15811 |
Microphthalmia, isolated, with coloboma 7 |
| GARD:15909 |
Microphthalmia, isolated, with coloboma 9 |
| GARD:15304 |
Microphthalmia, syndromic 1 |
| GARD:13235 |
Microphthalmia, syndromic 12 |
| GARD:5066 |
Microphthalmia-ankyloblepharon-intellectual disability syndrome |
| GARD:19493 |
Microphthalmia-anophthalmia-coloboma |
| GARD:9292 |
Microphthalmia-brain atrophy syndrome |
| GARD:3650 |
Microphthalmia-microtia-fetal akinesia syndrome |
| GARD:17205 |
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome |
| GARD:3652 |
Microscopic polyangiitis |
| GARD:5481 |
Microspherophakia-metaphyseal dysplasia syndrome |
| GARD:3655 |
Microsporidiosis |
| GARD:431 |
Microtia |
| GARD:10300 |
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome |
| GARD:21142 |
Microtriplication 11q24.1 |
| GARD:7039 |
Microvillus inclusion disease |
| GARD:20082 |
Micturation-induced seizures |
| GARD:20589 |
Mid-dermal elastolysis |
| GARD:22321 |
Middle East respiratory syndrome |
| GARD:20056 |
Middle ear anomaly |
| GARD:19759 |
Middle ear neuroendocrine tumor |
| GARD:20978 |
Midline cerebral malformation |
| GARD:19971 |
Midline cervical cleft |
| GARD:16832 |
Midline interhemispheric variant of holoprosencephaly |
| GARD:3524 |
Mietens syndrome |
| GARD:2638 |
Migraine, familial hemiplegic, 1 |
| GARD:10095 |
Migraine, familial hemiplegic, 2 |
| GARD:10974 |
Migraine, familial hemiplegic, 3 |
| GARD:3617 |
Mikati-Najjar-Sahli syndrome |
| GARD:17438 |
Mild Canavan disease |
| GARD:17061 |
Mild hemophilia A |
| GARD:17058 |
Mild hemophilia B |
| GARD:19027 |
Mild hyperphenylalaninemia |
| GARD:10324 |
Mild phenylketonuria |
| GARD:17681 |
Mild phosphoribosylpyrophosphate synthetase superactivity |
| GARD:16812 |
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis |
| GARD:3668 |
Miller Fisher syndrome |
| GARD:3669 |
Miller-Dieker syndrome |
| GARD:19250 |
Mills syndrome |
| GARD:7220 |
Milroy disease |
| GARD:21529 |
Minimal pigment oculocutaneous albinism type 1 |
| GARD:10177 |
Mirizzi syndrome |
| GARD:15086 |
Mirror movements 1 |
| GARD:15814 |
Mirror movements 2 |
| GARD:16055 |
Mirror movements 3 |
| GARD:16333 |
Mirror movements 4 |
| GARD:18784 |
Mirror polydactyly-vertebral segmentation-limbs defects syndrome |
| GARD:22034 |
Mirror-image polydactyly |
| GARD:21285 |
Miscellaneous movement disorder due to genetic neurodegenerative disease |
| GARD:21267 |
Miscellaneous movement disorder due to neurodegenerative disease |
| GARD:420 |
Mismatch repair cancer syndrome 1 |
| GARD:18362 |
Mismatch repair cancer syndrome 2 |
| GARD:18363 |
Mismatch repair cancer syndrome 3 |
| GARD:18364 |
Mismatch repair cancer syndrome 4 |
| GARD:13643 |
Mitochondrial DNA depletion syndrome |
| GARD:17225 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form |
| GARD:3681 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria |
| GARD:13200 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy |
| GARD:13298 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
| GARD:20769 |
Mitochondrial DNA depletion syndrome, hepatocerebral form |
| GARD:13644 |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency |
| GARD:17564 |
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form |
| GARD:17228 |
Mitochondrial DNA depletion syndrome, myopathic form |
| GARD:21520 |
Mitochondrial DNA maintenance syndrome |
| GARD:3671 |
Mitochondrial DNA-associated Leigh syndrome |
| GARD:18719 |
Mitochondrial DNA-related cardiomyopathy and hearing loss |
| GARD:20767 |
Mitochondrial DNA-related dystonia |
| GARD:20757 |
Mitochondrial DNA-related mitochondrial myopathy |
| GARD:16479 |
Mitochondrial DNA-related progressive external ophthalmoplegia |
| GARD:15201 |
Mitochondrial complex i deficiency, nuclear type 1 |
| GARD:16320 |
Mitochondrial complex i deficiency, nuclear type 10 |
| GARD:16321 |
Mitochondrial complex i deficiency, nuclear type 11 |
| GARD:15283 |
Mitochondrial complex i deficiency, nuclear type 12 |
| GARD:18371 |
Mitochondrial complex i deficiency, nuclear type 13 |
| GARD:16322 |
Mitochondrial complex i deficiency, nuclear type 14 |
| GARD:16323 |
Mitochondrial complex i deficiency, nuclear type 15 |
| GARD:16324 |
Mitochondrial complex i deficiency, nuclear type 16 |
| GARD:18372 |
Mitochondrial complex i deficiency, nuclear type 17 |
| GARD:16325 |
Mitochondrial complex i deficiency, nuclear type 18 |
| GARD:16326 |
Mitochondrial complex i deficiency, nuclear type 19 |
| GARD:16312 |
Mitochondrial complex i deficiency, nuclear type 2 |
| GARD:16327 |
Mitochondrial complex i deficiency, nuclear type 21 |
| GARD:18373 |
Mitochondrial complex i deficiency, nuclear type 22 |
| GARD:18374 |
Mitochondrial complex i deficiency, nuclear type 23 |
| GARD:16328 |
Mitochondrial complex i deficiency, nuclear type 24 |
| GARD:16329 |
Mitochondrial complex i deficiency, nuclear type 25 |
| GARD:18375 |
Mitochondrial complex i deficiency, nuclear type 27 |
| GARD:18376 |
Mitochondrial complex i deficiency, nuclear type 28 |
| GARD:16330 |
Mitochondrial complex i deficiency, nuclear type 29 |
| GARD:16313 |
Mitochondrial complex i deficiency, nuclear type 3 |
| GARD:15284 |
Mitochondrial complex i deficiency, nuclear type 30 |
| GARD:16331 |
Mitochondrial complex i deficiency, nuclear type 31 |
| GARD:18067 |
Mitochondrial complex i deficiency, nuclear type 32 |
| GARD:16332 |
Mitochondrial complex i deficiency, nuclear type 33 |
| GARD:16378 |
Mitochondrial complex i deficiency, nuclear type 34 |
| GARD:16401 |
Mitochondrial complex i deficiency, nuclear type 35 |
| GARD:16431 |
Mitochondrial complex i deficiency, nuclear type 36 |
| GARD:16440 |
Mitochondrial complex i deficiency, nuclear type 37 |
| GARD:16314 |
Mitochondrial complex i deficiency, nuclear type 4 |
| GARD:16315 |
Mitochondrial complex i deficiency, nuclear type 5 |
| GARD:16316 |
Mitochondrial complex i deficiency, nuclear type 6 |
| GARD:16317 |
Mitochondrial complex i deficiency, nuclear type 7 |
| GARD:16318 |
Mitochondrial complex i deficiency, nuclear type 8 |
| GARD:16319 |
Mitochondrial complex i deficiency, nuclear type 9 |
| GARD:15202 |
Mitochondrial complex ii deficiency, nuclear type 1 |
| GARD:16429 |
Mitochondrial complex ii deficiency, nuclear type 2 |
| GARD:16430 |
Mitochondrial complex ii deficiency, nuclear type 3 |
| GARD:16438 |
Mitochondrial complex ii deficiency, nuclear type 4 |
| GARD:15056 |
Mitochondrial complex iii deficiency, nuclear type 1 |
| GARD:16377 |
Mitochondrial complex iii deficiency, nuclear type 10 |
| GARD:15910 |
Mitochondrial complex iii deficiency, nuclear type 2 |
| GARD:15911 |
Mitochondrial complex iii deficiency, nuclear type 3 |
| GARD:15912 |
Mitochondrial complex iii deficiency, nuclear type 4 |
| GARD:15913 |
Mitochondrial complex iii deficiency, nuclear type 5 |
| GARD:15970 |
Mitochondrial complex iii deficiency, nuclear type 6 |
| GARD:16015 |
Mitochondrial complex iii deficiency, nuclear type 7 |
| GARD:16018 |
Mitochondrial complex iii deficiency, nuclear type 8 |
| GARD:16060 |
Mitochondrial complex iii deficiency, nuclear type 9 |
| GARD:15158 |
Mitochondrial complex iv deficiency, nuclear type 1 |
| GARD:16408 |
Mitochondrial complex iv deficiency, nuclear type 10 |
| GARD:16409 |
Mitochondrial complex iv deficiency, nuclear type 11 |
| GARD:16410 |
Mitochondrial complex iv deficiency, nuclear type 12 |
| GARD:18573 |
Mitochondrial complex iv deficiency, nuclear type 13 |
| GARD:16411 |
Mitochondrial complex iv deficiency, nuclear type 14 |
| GARD:16412 |
Mitochondrial complex iv deficiency, nuclear type 15 |
| GARD:16413 |
Mitochondrial complex iv deficiency, nuclear type 16 |
| GARD:16414 |
Mitochondrial complex iv deficiency, nuclear type 17 |
| GARD:16415 |
Mitochondrial complex iv deficiency, nuclear type 18 |
| GARD:16416 |
Mitochondrial complex iv deficiency, nuclear type 19 |
| GARD:18570 |
Mitochondrial complex iv deficiency, nuclear type 2 |
| GARD:16417 |
Mitochondrial complex iv deficiency, nuclear type 20 |
| GARD:16418 |
Mitochondrial complex iv deficiency, nuclear type 21 |
| GARD:16448 |
Mitochondrial complex iv deficiency, nuclear type 22 |
| GARD:16404 |
Mitochondrial complex iv deficiency, nuclear type 3 |
| GARD:16405 |
Mitochondrial complex iv deficiency, nuclear type 4 |
| GARD:15159 |
Mitochondrial complex iv deficiency, nuclear type 5 |
| GARD:18571 |
Mitochondrial complex iv deficiency, nuclear type 6 |
| GARD:16406 |
Mitochondrial complex iv deficiency, nuclear type 7 |
| GARD:16407 |
Mitochondrial complex iv deficiency, nuclear type 8 |
| GARD:18572 |
Mitochondrial complex iv deficiency, nuclear type 9 |
| GARD:18660 |
Mitochondrial complex v (atp synthase) deficiency, nuclear type 1 |
| GARD:18666 |
Mitochondrial complex v (atp synthase) deficiency, nuclear type 3 |
| GARD:18667 |
Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 |
| GARD:18670 |
Mitochondrial complex v (atp synthase) deficiency, nuclear type 5 |
| GARD:18673 |
Mitochondrial complex v (atp synthase) deficiency, nuclear type 6 |
| GARD:18887 |
Mitochondrial disease |
| GARD:20527 |
Mitochondrial disease with dilated cardiomyopathy |
| GARD:20555 |
Mitochondrial disease with epilepsy |
| GARD:20521 |
Mitochondrial disease with hypertrophic cardiomyopathy |
| GARD:20556 |
Mitochondrial disease with peripheral neuropathy |
| GARD:21322 |
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes |
| GARD:18814 |
Mitochondrial disorder due to a defect in mitochondrial protein synthesis |
| GARD:15961 |
Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive |
| GARD:18370 |
Mitochondrial dna depletion syndrome 19 |
| GARD:18369 |
Mitochondrial dna depletion syndrome 2 (myopathic type) |
| GARD:17428 |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| GARD:12569 |
Mitochondrial membrane protein-associated neurodegeneration |
| GARD:20761 |
Mitochondrial membrane transport disorder |
| GARD:20371 |
Mitochondrial myopathy |
| GARD:3885 |
Mitochondrial myopathy and sideroblastic anemia |
| GARD:17227 |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency |
| GARD:17934 |
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| GARD:3682 |
Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| GARD:9920 |
Mitochondrial neurogastrointestinal encephalomyopathy |
| GARD:16792 |
Mitochondrial non-syndromic sensorineural deafness |
| GARD:20546 |
Mitochondrial oxidative phosphorylation disorder |
| GARD:20755 |
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA |
| GARD:20756 |
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA |
| GARD:20754 |
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies |
| GARD:18771 |
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies |
| GARD:20760 |
Mitochondrial oxidative phosphorylation disorder with no known mechanism |
| GARD:20763 |
Mitochondrial protein import disorder |
| GARD:17771 |
Mitochondrial pyruvate carrier deficiency |
| GARD:13019 |
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency |
| GARD:20762 |
Mitochondrial substrate carrier disorder |
| GARD:3684 |
Mitochondrial trifunctional protein deficiency |
| GARD:3685 |
Mitral atresia |
| GARD:19629 |
Mitral valve agenesis |
| GARD:3688 |
Mitral valve prolapse 1 |
| GARD:15421 |
Mitral valve prolapse 2 |
| GARD:15501 |
Mitral valve prolapse 3 |
| GARD:21456 |
Mixed autoinflammatory and autoimmune syndrome |
| GARD:7051 |
Mixed connective tissue disease |
| GARD:19220 |
Mixed cryoglobulinemia type II |
| GARD:19221 |
Mixed cryoglobulinemia type III |
| GARD:21912 |
Mixed cystic lymphatic malformation |
| GARD:19009 |
Mixed dermis disorder |
| GARD:21390 |
Mixed functioning pituitary adenoma |
| GARD:20202 |
Mixed germ cell tumor |
| GARD:20736 |
Mixed germ cell tumor of central nervous system |
| GARD:22057 |
Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas |
| GARD:20728 |
Mixed neuronal-glial tumor |
| GARD:17972 |
Mixed phenotype acute leukemia |
| GARD:22354 |
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) |
| GARD:22357 |
Mixed phenotype acute leukemia with t(v;11q23.3) |
| GARD:21439 |
Mixed sclerosing bone dystrophy with extra-skeletal manifestations |
| GARD:19101 |
Mixed-type autoimmune hemolytic anemia |
| GARD:15648 |
Miyoshi muscular dystrophy 2 |
| GARD:9676 |
Miyoshi myopathy |
| GARD:19108 |
Moderate and severe traumatic brain injury |
| GARD:17060 |
Moderate hemophilia A |
| GARD:17057 |
Moderate hemophilia B |
| GARD:17078 |
Moderate multiminicore disease with hand involvement |
| GARD:20896 |
Moderately-differentiated thymic neuroendocrine carcinoma |
| GARD:8549 |
Moebius syndrome |
| GARD:3698 |
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome |
| GARD:8331 |
Mohr-Tranebjaerg syndrome |
| GARD:93 |
Monilethrix |
| GARD:3531 |
Monoamine oxidase A deficiency |
| GARD:12980 |
Monoclonal mast cell activation syndrome |
| GARD:15203 |
Monocyte chemotactic disorder |
| GARD:10934 |
Monocytopenia with susceptibility to infections |
| GARD:20086 |
Monogenic disease with epilepsy |
| GARD:9697 |
Monomelic amyotrophy |
| GARD:4886 |
Mononen-Karnes-Senac syndrome |
| GARD:16570 |
Monosomy 13q14 |
| GARD:16847 |
Monosomy 13q34 |
| GARD:8631 |
Monosomy 18p |
| GARD:10865 |
Monosomy 18q |
| GARD:10860 |
Monosomy 21 |
| GARD:19324 |
Monosomy 22 |
| GARD:10130 |
Monosomy 22q13.3 |
| GARD:6213 |
Monosomy 5p |
| GARD:18505 |
Monosomy 7 myelodysplasia and leukemia syndrome 1 |
| GARD:18506 |
Monosomy 7 myelodysplasia and leukemia syndrome 2 |
| GARD:3773 |
Monosomy 9p |
| GARD:18934 |
Monosomy 9q22.3 |
| GARD:19676 |
Monosomy X |
| GARD:19181 |
Monostotic fibrous dysplasia |
| GARD:22132 |
Mooren ulcer |
| GARD:8593 |
Morgagni-Stewart-Morel syndrome |
| GARD:13354 |
Morning glory disc anomaly |
| GARD:9766 |
Morvan syndrome |
| GARD:21493 |
Mosaic genome-wide paternal uniparental disomy |
| GARD:19677 |
Mosaic monosomy X |
| GARD:18736 |
Mosaic trisomy 1 |
| GARD:19302 |
Mosaic trisomy 10 |
| GARD:5304 |
Mosaic trisomy 12 |
| GARD:1327 |
Mosaic trisomy 14 |
| GARD:5313 |
Mosaic trisomy 15 |
| GARD:18741 |
Mosaic trisomy 16 |
| GARD:5317 |
Mosaic trisomy 17 |
| GARD:5331 |
Mosaic trisomy 2 |
| GARD:18744 |
Mosaic trisomy 20 |
| GARD:6085 |
Mosaic trisomy 22 |
| GARD:5342 |
Mosaic trisomy 3 |
| GARD:19300 |
Mosaic trisomy 4 |
| GARD:19301 |
Mosaic trisomy 5 |
| GARD:5354 |
Mosaic trisomy 7 |
| GARD:5359 |
Mosaic trisomy 8 |
| GARD:43 |
Mosaic trisomy 9 |
| GARD:3007 |
Mosaic variegated aneuploidy syndrome |
| GARD:15758 |
Mosaic variegated aneuploidy syndrome 2 |
| GARD:16240 |
Mosaic variegated aneuploidy syndrome 3 |
| GARD:19477 |
Motor neuron disease |
| GARD:21279 |
Motor stereotypies |
| GARD:3793 |
Mounier-Kühn syndrome |
| GARD:9673 |
Mowat-Wilson syndrome |
| GARD:17249 |
Mowat-Wilson syndrome due to a ZEB2 point mutation |
| GARD:17248 |
Mowat-Wilson syndrome due to monosomy 2q22 |
| GARD:21964 |
Moyamoya angiopathy |
| GARD:17301 |
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome |
| GARD:7064 |
Moyamoya disease |
| GARD:15410 |
Moyamoya disease 2 |
| GARD:15442 |
Moyamoya disease 3 |
| GARD:15746 |
Moyamoya disease 5 |
| GARD:17664 |
Moyamoya disease with early-onset achalasia |
| GARD:606 |
Moynahan syndrome |
| GARD:19741 |
Mu-heavy chain disease |
| GARD:21651 |
Mucinous adenocarcinoma of ovary |
| GARD:21629 |
Mucinous adenocarcinoma of the appendix |
| GARD:21778 |
Mucinous cystadenocarcinoma of the pancreas |
| GARD:22257 |
Mucinous cystadenoma of childhood |
| GARD:21418 |
Mucinous tubular and spindle cell renal carcinoma |
| GARD:8472 |
Muckle-Wells syndrome |
| GARD:16600 |
Mucocutaneous venous malformations |
| GARD:18975 |
Mucolipidosis |
| GARD:6749 |
Mucolipidosis type II |
| GARD:3806 |
Mucolipidosis type III |
| GARD:17704 |
Mucolipidosis type III alpha/beta |
| GARD:17705 |
Mucolipidosis type III gamma |
| GARD:94 |
Mucolipidosis type IV |
| GARD:7065 |
Mucopolysaccharidosis |
| GARD:10335 |
Mucopolysaccharidosis type 1 |
| GARD:6675 |
Mucopolysaccharidosis type 2 |
| GARD:17119 |
Mucopolysaccharidosis type 2, attenuated form |
| GARD:17118 |
Mucopolysaccharidosis type 2, severe form |
| GARD:3807 |
Mucopolysaccharidosis type 3 |
| GARD:12562 |
Mucopolysaccharidosis type 4 |
| GARD:3785 |
Mucopolysaccharidosis type 4A |
| GARD:3786 |
Mucopolysaccharidosis type 4B |
| GARD:7095 |
Mucopolysaccharidosis type 6 |
| GARD:21046 |
Mucopolysaccharidosis type 6, rapidly progressing |
| GARD:21047 |
Mucopolysaccharidosis type 6, slowly progressing |
| GARD:7096 |
Mucopolysaccharidosis type 7 |
| GARD:19016 |
Mucopolysaccharidosis with skin involvement |
| GARD:17944 |
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders |
| GARD:5913 |
Mucous membrane pemphigoid |
| GARD:22283 |
Mueller-Weiss syndrome |
| GARD:7097 |
Muenke syndrome |
| GARD:6821 |
Muir-Torre syndrome |
| GARD:95 |
Mulibrey nanism |
| GARD:3818 |
Multicentric carpo-tarsal osteolysis with or without nephropathy |
| GARD:13743 |
Multicentric osteolysis, nodulosis, and arthropathy |
| GARD:17610 |
Multicentric osteolysis-nodulosis-arthropathy spectrum |
| GARD:7103 |
Multicentric reticulohistiocytosis |
| GARD:18748 |
Multicystic dysplastic kidney |
| GARD:1235 |
Multifocal atrial tachycardia |
| GARD:10467 |
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome |
| GARD:11011 |
Multifocal motor neuropathy |
| GARD:19612 |
Multifocal pattern dystrophy simulating fundus flavimaculatus |
| GARD:21417 |
Multilocular cystic renal neoplasm of low malignant potential |
| GARD:19376 |
Multiloculated renal cyst |
| GARD:16536 |
Multiminicore myopathy |
| GARD:1671 |
Multinodular goiter-cystic kidney-polydactyly syndrome |
| GARD:17922 |
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |
| GARD:6523 |
Multiple acyl-CoA dehydrogenase deficiency |
| GARD:17627 |
Multiple acyl-CoA dehydrogenase deficiency, mild type |
| GARD:17626 |
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type |
| GARD:3589 |
Multiple benign circumferential skin creases on limbs |
| GARD:3824 |
Multiple carboxylase deficiency |
| GARD:12781 |
Multiple congenital anomalies-hypotonia-seizures syndrome |
| GARD:16363 |
Multiple congenital anomalies-hypotonia-seizures syndrome 4 |
| GARD:12777 |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 |
| GARD:18876 |
Multiple congenital anomalies/dysmorphic syndrome |
| GARD:19833 |
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability |
| GARD:19832 |
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability |
| GARD:21044 |
Multiple endocrine neoplasia |
| GARD:3829 |
Multiple endocrine neoplasia type 1 |
| GARD:3830 |
Multiple endocrine neoplasia type 2 |
| GARD:4881 |
Multiple endocrine neoplasia type 2A |
| GARD:10225 |
Multiple endocrine neoplasia type 2B |
| GARD:17275 |
Multiple endocrine neoplasia type 4 |
| GARD:10756 |
Multiple epiphyseal dysplasia |
| GARD:19191 |
Multiple epiphyseal dysplasia and pseudoachondroplasia |
| GARD:15024 |
Multiple epiphyseal dysplasia due to collagen 9 anomaly |
| GARD:2180 |
Multiple epiphyseal dysplasia type 1 |
| GARD:9793 |
Multiple epiphyseal dysplasia type 4 |
| GARD:9794 |
Multiple epiphyseal dysplasia type 5 |
| GARD:17014 |
Multiple epiphyseal dysplasia, Al-Gazali type |
| GARD:17012 |
Multiple epiphyseal dysplasia, Beighton type |
| GARD:17013 |
Multiple epiphyseal dysplasia, Lowry type |
| GARD:17016 |
Multiple epiphyseal dysplasia, with miniepiphyses |
| GARD:17015 |
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia |
| GARD:3013 |
Multiple intestinal atresia |
| GARD:19192 |
Multiple metaphyseal dysplasia |
| GARD:20758 |
Multiple mitochondrial DNA deletion syndrome |
| GARD:12632 |
Multiple mitochondrial dysfunctions syndrome |
| GARD:17661 |
Multiple mitochondrial dysfunctions syndrome type 1 |
| GARD:17662 |
Multiple mitochondrial dysfunctions syndrome type 2 |
| GARD:17555 |
Multiple mitochondrial dysfunctions syndrome type 3 |
| GARD:17809 |
Multiple mitochondrial dysfunctions syndrome type 4 |
| GARD:22305 |
Multiple mitochondrial dysfunctions syndrome type 5 |
| GARD:18004 |
Multiple mitochondrial dysfunctions syndrome type 6 |
| GARD:7108 |
Multiple myeloma |
| GARD:7035 |
Multiple osteochondromas |
| GARD:21435 |
Multiple paragangliomas associated with polycythemia |
| GARD:19766 |
Multiple polyglandular tumor |
| GARD:21177 |
Multiple pterygium syndrome |
| GARD:3361 |
Multiple pterygium-malignant hyperthermia syndrome |
| GARD:20571 |
Multiple sclerosis variant |
| GARD:18787 |
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome |
| GARD:3090 |
Multiple self-healing squamous epithelioma |
| GARD:5061 |
Multiple sulfatase deficiency |
| GARD:6957 |
Multiple symmetric lipomatosis |
| GARD:3836 |
Multiple synostoses syndrome |
| GARD:15115 |
Multiple synostoses syndrome 1 |
| GARD:9916 |
Multiple synostoses syndrome 2 |
| GARD:15597 |
Multiple synostoses syndrome 3 |
| GARD:7079 |
Multiple system atrophy |
| GARD:20565 |
Multiple system atrophy, cerebellar type |
| GARD:19604 |
Multiple system atrophy, parkinsonian type |
| GARD:22403 |
Multisystem inflammatory syndrome in children and adults |
| GARD:12811 |
Multisystemic smooth muscle dysfunction syndrome |
| GARD:19033 |
Murine typhus |
| GARD:17062 |
Muscle filaminopathy |
| GARD:156 |
Muscle-eye-brain disease |
| GARD:17608 |
Muscle-eye-brain disease with bilateral multicystic leucodystrophy |
| GARD:2417 |
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome |
| GARD:18917 |
Muscular channelopathy |
| GARD:7922 |
Muscular dystrophy |
| GARD:17096 |
Muscular dystrophy, Selcen type |
| GARD:15089 |
Muscular dystrophy, pseudohypertrophic, with internalized capillaries |
| GARD:15317 |
Muscular dystrophy, scapulohumeral |
| GARD:15898 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 |
| GARD:15915 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 |
| GARD:15927 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
| GARD:15938 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 |
| GARD:15948 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 |
| GARD:15624 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 |
| GARD:15204 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 |
| GARD:15205 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 |
| GARD:15625 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 |
| GARD:15626 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 |
| GARD:15829 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 |
| GARD:15846 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| GARD:16134 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 |
| GARD:18455 |
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 |
| GARD:18456 |
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 |
| GARD:16294 |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8 |
| GARD:20370 |
Muscular glycogenosis |
| GARD:21441 |
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome |
| GARD:20369 |
Muscular lipidosis |
| GARD:8270 |
Muscular pseudohypertrophy-hypothyroidism syndrome |
| GARD:20375 |
Muscular tumor |
| GARD:8486 |
Musculocontractural Ehlers-Danlos syndrome |
| GARD:19531 |
Musculoskeletal disease with cataract |
| GARD:16959 |
Mutilating hereditary sensory neuropathy with spastic paraplegia |
| GARD:4075 |
Mutilating palmoplantar keratoderma with periorificial keratotic plaques |
| GARD:18775 |
Myalgia-eosinophilia syndrome associated with tryptophan |
| GARD:7122 |
Myasthenia gravis |
| GARD:15206 |
Myasthenic syndrome, congenital, 10 |
| GARD:16089 |
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency |
| GARD:18451 |
Myasthenic syndrome, congenital, 12 |
| GARD:18452 |
Myasthenic syndrome, congenital, 13 |
| GARD:18454 |
Myasthenic syndrome, congenital, 14 |
| GARD:18453 |
Myasthenic syndrome, congenital, 15 |
| GARD:15771 |
Myasthenic syndrome, congenital, 16 |
| GARD:16080 |
Myasthenic syndrome, congenital, 17 |
| GARD:16091 |
Myasthenic syndrome, congenital, 18 |
| GARD:16153 |
Myasthenic syndrome, congenital, 19 |
| GARD:15330 |
Myasthenic syndrome, congenital, 1a, slow-channel |
| GARD:15445 |
Myasthenic syndrome, congenital, 1b, fast-channel |
| GARD:16202 |
Myasthenic syndrome, congenital, 20, presynaptic |
| GARD:16212 |
Myasthenic syndrome, congenital, 21, presynaptic |
| GARD:16308 |
Myasthenic syndrome, congenital, 23, presynaptic |
| GARD:16309 |
Myasthenic syndrome, congenital, 24, presynaptic |
| GARD:16341 |
Myasthenic syndrome, congenital, 25, presynaptic |
| GARD:9895 |
Myasthenic syndrome, congenital, 2a, slow-channel |
| GARD:16083 |
Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency |
| GARD:16084 |
Myasthenic syndrome, congenital, 3a, slow-channel |
| GARD:16085 |
Myasthenic syndrome, congenital, 3b, fast-channel |
| GARD:16086 |
Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency |
| GARD:15387 |
Myasthenic syndrome, congenital, 4a, slow-channel |
| GARD:16087 |
Myasthenic syndrome, congenital, 4b, fast-channel |
| GARD:10108 |
Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency |
| GARD:18210 |
Myasthenic syndrome, congenital, 5 |
| GARD:9689 |
Myasthenic syndrome, congenital, 6, presynaptic |
| GARD:16053 |
Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant |
| GARD:15908 |
Myasthenic syndrome, congenital, 8 |
| GARD:16088 |
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency |
| GARD:3862 |
Mycetoma |
| GARD:2456 |
Mycobacterium tuberculosis, susceptibility to |
| GARD:20946 |
Mycophenolate mofetil embryopathy |
| GARD:19040 |
Mycoplasma encephalitis |
| GARD:20166 |
Mycosis fungoides and variants |
| GARD:20966 |
Myelocystocele |
| GARD:7132 |
Myelodysplastic syndrome |
| GARD:8723 |
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality |
| GARD:9351 |
Myelodysplastic/myeloproliferative disease |
| GARD:20130 |
Myeloid hemopathy |
| GARD:12763 |
Myeloid sarcoma |
| GARD:17043 |
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement |
| GARD:22355 |
Myeloid/lymphoid neoplasm associated with JAK2 rearrangement |
| GARD:20106 |
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement |
| GARD:20107 |
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement |
| GARD:20105 |
Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 |
| GARD:3475 |
Myelomeningocele |
| GARD:3868 |
Myeloperoxidase deficiency |
| GARD:9319 |
Myeloproliferative neoplasm |
| GARD:2572 |
Myhre syndrome |
| GARD:18924 |
Myiasis |
| GARD:19088 |
Myoclonic epilepsy in non-progressive encephalopathies |
| GARD:19086 |
Myoclonic epilepsy of infancy |
| GARD:15443 |
Myoclonic epilepsy, juvenile, susceptibility to, 3 |
| GARD:15513 |
Myoclonic epilepsy, juvenile, susceptibility to, 4 |
| GARD:2169 |
Myoclonic-astatic epilepsy |
| GARD:16108 |
Myoclonic-atonic epilepsy |
| GARD:3873 |
Myoclonus-cerebellar ataxia-deafness syndrome |
| GARD:7139 |
Myoclonus-dystonia syndrome |
| GARD:10529 |
Myofibrillar myopathy |
| GARD:15939 |
Myofibromatosis, infantile, 2 |
| GARD:18251 |
Myoglobinuria, acute recurrent, autosomal recessive |
| GARD:3879 |
Myoglobinuria, recurrent |
| GARD:22215 |
Myopathic Ehlers-Danlos syndrome |
| GARD:19853 |
Myopathic intestinal pseudoobstruction |
| GARD:3881 |
Myopathy and diabetes mellitus |
| GARD:15248 |
Myopathy due to myoadenylate deaminase deficiency |
| GARD:20129 |
Myopathy with hexagonally cross-linked tubular arrays |
| GARD:15208 |
Myopathy, centronuclear, 2 |
| GARD:16035 |
Myopathy, centronuclear, 5 |
| GARD:16250 |
Myopathy, centronuclear, 6, with fiber-type disproportion |
| GARD:15258 |
Myopathy, congenital, with fiber-type disproportion, x-linked |
| GARD:16204 |
Myopathy, distal, with rimmed vacuoles |
| GARD:15676 |
Myopathy, lactic acidosis, and sideroblastic anemia 2 |
| GARD:15312 |
Myopathy, lactic acidosis, and sideroblastic anemia 3 |
| GARD:15429 |
Myopathy, myosin storage, autosomal dominant |
| GARD:15207 |
Myopathy, myosin storage, autosomal recessive |
| GARD:16026 |
Myopathy, tubular aggregate, 2 |
| GARD:21152 |
Myopericytoma |
| GARD:18198 |
Myopia 23, autosomal recessive |
| GARD:9937 |
Myopia 6 |
| GARD:18197 |
Myopia, high, with cataract and vitreoretinal degeneration |
| GARD:20153 |
Myopic macular degeneration |
| GARD:17325 |
Myosclerosis |
| GARD:21255 |
Myospherulosis |
| GARD:10238 |
Myostatin-related muscle hypertrophy |
| GARD:20440 |
Myotilinopathy |
| GARD:6176 |
Myotonia congenita, autosomal dominant |
| GARD:844 |
Myotonia congenita, autosomal recessive |
| GARD:16904 |
Myotonia fluctuans |
| GARD:16905 |
Myotonia permanens |
| GARD:10419 |
Myotonic dystrophy |
| GARD:20372 |
Myotonic syndrome |
| GARD:18941 |
Myxofibrosarcoma |
| GARD:15667 |
Myxoid liposarcoma |
| GARD:7157 |
Myxoid/round cell liposarcoma |
| GARD:10633 |
Myxopapillary ependymoma |
| GARD:2436 |
Ménétrier disease |
| GARD:7100 |
Müllerian aplasia |
| GARD:17195 |
Müllerian aplasia and hyperandrogenism |
| GARD:5430 |
Müllerian derivatives-lymphangiectasia-polydactyly syndrome |
| GARD:2908 |
Müllerian duct anomalies-limb anomalies syndrome |
| GARD:3902 |
N syndrome |
| GARD:17990 |
NAD(P)HX dehydratase deficiency |
| GARD:17991 |
NAD(P)HX epimerase deficiency |
| GARD:262 |
NARP syndrome |
| GARD:10216 |
NDE1-related microhydranencephaly |
| GARD:17818 |
NEK9-related lethal skeletal dysplasia |
| GARD:21593 |
NEVADA syndrome |
| GARD:21864 |
NIK deficiency |
| GARD:20905 |
NK-cell enteropathy |
| GARD:17964 |
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy |
| GARD:18014 |
NLRC4-related familial cold autoinflammatory syndrome |
| GARD:17201 |
NLRP12-associated hereditary periodic fever syndrome |
| GARD:20513 |
NMDA receptor encephalitis |
| GARD:4665 |
NPHP3-related Meckel-like syndrome |
| GARD:22416 |
NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance |
| GARD:17790 |
NTHL1-related attenuated familial adenomatous polyposis |
| GARD:21852 |
NUT midline carcinoma |
| GARD:3912 |
Naegeli-Franceschetti-Jadassohn syndrome |
| GARD:498 |
Nager syndrome |
| GARD:17703 |
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome |
| GARD:18999 |
Nail anomaly |
| GARD:15040 |
Nail disorder, nonsyndromic congenital, 6 |
| GARD:15762 |
Nail disorder, nonsyndromic congenital, 9 |
| GARD:7160 |
Nail-patella syndrome |
| GARD:321 |
Nail-patella-like renal disease |
| GARD:7161 |
Nance-Horan syndrome |
| GARD:16637 |
Nanophthalmos |
| GARD:18625 |
Nanophthalmos 1 |
| GARD:18626 |
Nanophthalmos 2 |
| GARD:18627 |
Nanophthalmos 3 |
| GARD:18629 |
Nanophthalmos 4 |
| GARD:22460 |
Narcolepsy |
| GARD:15091 |
Narcolepsy 1 |
| GARD:15388 |
Narcolepsy 2, susceptibility to |
| GARD:15447 |
Narcolepsy 3 |
| GARD:15555 |
Narcolepsy 4, susceptibility to |
| GARD:15587 |
Narcolepsy 5, susceptibility to |
| GARD:15779 |
Narcolepsy 6, susceptibility to |
| GARD:15783 |
Narcolepsy 7 |
| GARD:7162 |
Narcolepsy type 1 |
| GARD:19038 |
Narcolepsy type 2 |
| GARD:16970 |
Nasal dermoid cyst |
| GARD:19963 |
Nasal dorsum fistula |
| GARD:19951 |
Nasal encephalocele |
| GARD:19950 |
Nasal ganglioglioma |
| GARD:19949 |
Nasal glial heterotopia |
| GARD:19944 |
Nasolacrimal duct cyst |
| GARD:3927 |
Nasopalpebral lipoma-coloboma syndrome |
| GARD:7163 |
Nasopharyngeal carcinoma |
| GARD:15092 |
Nasopharyngeal carcinoma, susceptibility to, 2 |
| GARD:16184 |
Nasopharyngeal carcinoma, susceptibility to, 3 |
| GARD:19948 |
Nasopharyngeal teratoma |
| GARD:9921 |
Nasu-Hakola disease |
| GARD:3929 |
Nathalie syndrome |
| GARD:8432 |
Native American myopathy |
| GARD:3972 |
Navajo neurohepatopathy |
| GARD:9795 |
Naxos disease |
| GARD:13040 |
Necrobiosis lipoidica |
| GARD:10951 |
Necrobiotic xanthogranuloma |
| GARD:9767 |
Necrotizing enterocolitis |
| GARD:21839 |
Necrotizing soft tissue infection |
| GARD:7170 |
Nelson syndrome |
| GARD:12033 |
Nemaline myopathy |
| GARD:15453 |
Nemaline myopathy 1 |
| GARD:16066 |
Nemaline myopathy 10 |
| GARD:16222 |
Nemaline myopathy 11, autosomal recessive |
| GARD:15209 |
Nemaline myopathy 2 |
| GARD:10111 |
Nemaline myopathy 3 |
| GARD:15454 |
Nemaline myopathy 4 |
| GARD:15452 |
Nemaline myopathy 6 |
| GARD:15493 |
Nemaline myopathy 7 |
| GARD:15946 |
Nemaline myopathy 8 |
| GARD:16007 |
Nemaline myopathy 9 |
| GARD:21128 |
Neonatal Marfan syndrome |
| GARD:17126 |
Neonatal acute respiratory distress due to SP-B deficiency |
| GARD:559 |
Neonatal adrenoleukodystrophy |
| GARD:21929 |
Neonatal alloimmune neutropenia |
| GARD:21644 |
Neonatal antiphospholipid syndrome |
| GARD:21645 |
Neonatal autoimmune hemolytic anemia |
| GARD:19892 |
Neonatal brainstem dysfunction |
| GARD:21646 |
Neonatal dermatomyositis |
| GARD:18682 |
Neonatal diabetes mellitus |
| GARD:16699 |
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome |
| GARD:17796 |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| GARD:19435 |
Neonatal epilepsy syndrome |
| GARD:17994 |
Neonatal epileptic encephalopathy due to glutaminase deficiency |
| GARD:17332 |
Neonatal glycine encephalopathy |
| GARD:7172 |
Neonatal hemochromatosis |
| GARD:19875 |
Neonatal hypoxic and ischemic brain injury |
| GARD:10583 |
Neonatal ichthyosis-sclerosing cholangitis syndrome |
| GARD:17355 |
Neonatal inflammatory skin and bowel disease |
| GARD:10214 |
Neonatal intrahepatic cholestasis due to citrin deficiency |
| GARD:20644 |
Neonatal iodine exposure |
| GARD:21647 |
Neonatal lupus erythematosus |
| GARD:19199 |
Neonatal osteosclerotic dysplasia |
| GARD:21648 |
Neonatal scleroderma |
| GARD:17831 |
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect |
| GARD:2838 |
Neonatal severe primary hyperparathyroidism |
| GARD:22462 |
Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 |
| GARD:19245 |
Neovascular glaucoma |
| GARD:7892 |
Nephroblastoma |
| GARD:7178 |
Nephrogenic diabetes insipidus |
| GARD:259 |
Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome |
| GARD:10306 |
Nephrogenic syndrome of inappropriate antidiuresis |
| GARD:9725 |
Nephrogenic systemic fibrosis |
| GARD:15305 |
Nephrolithiasis, x-linked recessive, with renal failure |
| GARD:18346 |
Nephrolithiasis/osteoporosis, hypophosphatemic, 1 |
| GARD:18347 |
Nephrolithiasis/osteoporosis, hypophosphatemic, 2 |
| GARD:206 |
Nephronophthisis |
| GARD:18080 |
Nephronophthisis 11 |
| GARD:15852 |
Nephronophthisis 15 |
| GARD:18183 |
Nephronophthisis 16 |
| GARD:18081 |
Nephronophthisis 19 |
| GARD:18182 |
Nephronophthisis 2 |
| GARD:18181 |
Nephronophthisis 20 |
| GARD:18179 |
Nephronophthisis 3 |
| GARD:18180 |
Nephronophthisis-like nephropathy 1 |
| GARD:19229 |
Nephropathy secondary to a storage or other metabolic disease |
| GARD:15344 |
Nephropathy, progressive tubulointerstitial, with cholestatic liver disease |
| GARD:3940 |
Nephropathy-deafness-hyperparathyroidism syndrome |
| GARD:3943 |
Nephrosis-deafness-urinary tract-digital malformations syndrome |
| GARD:22294 |
Nephrotic syndrome without extrarenal manifestations |
| GARD:16155 |
Nephrotic syndrome, type 11 |
| GARD:16166 |
Nephrotic syndrome, type 12 |
| GARD:16167 |
Nephrotic syndrome, type 13 |
| GARD:16299 |
Nephrotic syndrome, type 17 |
| GARD:16300 |
Nephrotic syndrome, type 18 |
| GARD:16301 |
Nephrotic syndrome, type 19 |
| GARD:15326 |
Nephrotic syndrome, type 2 |
| GARD:15285 |
Nephrotic syndrome, type 20 |
| GARD:16428 |
Nephrotic syndrome, type 22 |
| GARD:16435 |
Nephrotic syndrome, type 23 |
| GARD:15495 |
Nephrotic syndrome, type 3 |
| GARD:15210 |
Nephrotic syndrome, type 4 |
| GARD:15770 |
Nephrotic syndrome, type 6 |
| GARD:18557 |
Nephrotic syndrome, type 7 |
| GARD:15925 |
Nephrotic syndrome, type 8 |
| GARD:15989 |
Nephrotic syndrome, type 9 |
| GARD:17367 |
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome |
| GARD:16459 |
Nescav syndrome |
| GARD:11008 |
Nestor-Guillermo progeria syndrome |
| GARD:7182 |
Netherton syndrome |
| GARD:102 |
Neu-Laxova syndrome |
| GARD:22336 |
Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency |
| GARD:22337 |
Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency |
| GARD:22335 |
Neu-laxova syndrome due to phosphoserine aminotransferase deficiency |
| GARD:19638 |
Neuhauser anomaly |
| GARD:3949 |
Neuhauser-Eichner-Opitz syndrome |
| GARD:17268 |
Neural tube closure defect |
| GARD:18796 |
Neural tube defect |
| GARD:4228 |
Neuralgic amyotrophy |
| GARD:20975 |
Neurenteric cyst |
| GARD:19930 |
Neuro-ophthalmological disease |
| GARD:10902 |
Neuroacanthocytosis |
| GARD:7185 |
Neuroblastoma |
| GARD:15211 |
Neuroblastoma, susceptibility to, 1 |
| GARD:15603 |
Neuroblastoma, susceptibility to, 2 |
| GARD:15604 |
Neuroblastoma, susceptibility to, 3 |
| GARD:15605 |
Neuroblastoma, susceptibility to, 4 |
| GARD:15606 |
Neuroblastoma, susceptibility to, 5 |
| GARD:15607 |
Neuroblastoma, susceptibility to, 6 |
| GARD:16161 |
Neuroblastoma, susceptibility to, 7 |
| GARD:7186 |
Neurocutaneous melanocytosis |
| GARD:20084 |
Neurocutaneous syndrome with epilepsy |
| GARD:13202 |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| GARD:11899 |
Neurodegeneration with brain iron accumulation |
| GARD:10688 |
Neurodegeneration with brain iron accumulation 2b |
| GARD:21271 |
Neurodegenerative disease with chorea |
| GARD:19484 |
Neurodegenerative disease with dementia |
| GARD:10594 |
Neurodegenerative syndrome due to cerebral folate transport deficiency |
| GARD:17969 |
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome |
| GARD:18519 |
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly |
| GARD:18542 |
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism |
| GARD:18545 |
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia |
| GARD:18513 |
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| GARD:18521 |
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies |
| GARD:18543 |
Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| GARD:18528 |
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia |
| GARD:22564 |
Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities |
| GARD:13539 |
Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features |
| GARD:18515 |
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia |
| GARD:16232 |
Neurodevelopmental disorder with involuntary movements |
| GARD:22576 |
Neurodevelopmental disorder with microcephaly, ataxia, and seizures |
| GARD:18534 |
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities |
| GARD:18535 |
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities |
| GARD:18532 |
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy |
| GARD:18540 |
Neurodevelopmental disorder with or without autism or seizures |
| GARD:18539 |
Neurodevelopmental disorder with or without early-onset generalized epilepsy |
| GARD:13686 |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| GARD:18502 |
Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy |
| GARD:16123 |
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities |
| GARD:18531 |
Neurodevelopmental disorder with seizures and brain atrophy |
| GARD:18524 |
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities |
| GARD:16130 |
Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities |
| GARD:18530 |
Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| GARD:17785 |
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome |
| GARD:21526 |
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion |
| GARD:13418 |
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation |
| GARD:18523 |
Neurodevelopmental, jaw, eye, and digital syndrome |
| GARD:16630 |
Neuroectodermal melanolysosomal disease |
| GARD:22056 |
Neuroendocrine carcinoma of pancreas |
| GARD:20517 |
Neuroendocrine cell hyperplasia of infancy |
| GARD:9316 |
Neuroendocrine neoplasm |
| GARD:19754 |
Neuroendocrine neoplasm of appendix |
| GARD:22058 |
Neuroendocrine neoplasm of esophagus |
| GARD:22052 |
Neuroendocrine neoplasm of pancreas |
| GARD:19757 |
Neuroendocrine tumor of anal canal |
| GARD:13034 |
Neuroendocrine tumor of pancreas |
| GARD:19750 |
Neuroendocrine tumor of stomach |
| GARD:19755 |
Neuroendocrine tumor of the colon |
| GARD:19756 |
Neuroendocrine tumor of the rectum |
| GARD:21765 |
Neuroendocrine tumor of the small intestine |
| GARD:19768 |
Neuroendocrine tumor with other location |
| GARD:3964 |
Neurofaciodigitorenal syndrome |
| GARD:10686 |
Neuroferritinopathy |
| GARD:7191 |
Neurofibroma |
| GARD:7866 |
Neurofibromatosis type 1 |
| GARD:17570 |
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion |
| GARD:7193 |
Neurofibromatosis type 2 |
| GARD:3967 |
Neurofibromatosis type 6 |
| GARD:15094 |
Neurofibromatosis, type iii, mixed central and peripheral |
| GARD:372 |
Neurofibromatosis-Noonan syndrome |
| GARD:790 |
Neurogenic arthrogryposis multiplex congenita |
| GARD:10312 |
Neurogenic scapuloperoneal syndrome, Kaeser type |
| GARD:19749 |
Neurogenic thoracic outlet syndrome |
| GARD:7195 |
Neuroleptic malignant syndrome |
| GARD:19574 |
Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect |
| GARD:19573 |
Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect |
| GARD:19570 |
Neurological channelopathy of the central nervous system due to a genetic calcium channel defect |
| GARD:22219 |
Neurological channelopathy of the central nervous system due to a genetic chloride channel defect |
| GARD:19572 |
Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect |
| GARD:19571 |
Neurological channelopathy of the central nervous system due to a genetic potassium channel defect |
| GARD:19569 |
Neurological channelopathy of the central nervous system due to a genetic sodium channel defect |
| GARD:9741 |
Neurological conditions associated with aminoacylase 1 deficiency |
| GARD:19565 |
Neurological muscular channelopathy due to a genetic calcium channel defect |
| GARD:19564 |
Neurological muscular channelopathy due to a genetic chloride channel defect |
| GARD:19566 |
Neurological muscular channelopathy due to a genetic potassium channel defect |
| GARD:19567 |
Neurological muscular channelopathy due to a genetic ryanodine receptor defect |
| GARD:19563 |
Neurological muscular channelopathy due to a genetic sodium channel defect |
| GARD:20354 |
Neurolymphomatosis |
| GARD:18890 |
Neurometabolic disease |
| GARD:18815 |
Neurometabolic disorder due to serine deficiency |
| GARD:18888 |
Neuromuscular disease |
| GARD:20526 |
Neuromuscular disease with dilated cardiomyopathy |
| GARD:19473 |
Neuromuscular junction disease |
| GARD:6267 |
Neuromyelitis optica spectrum disorder |
| GARD:22372 |
Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies |
| GARD:22373 |
Neuromyelitis optica spectrum disorder with anti-MOG antibodies |
| GARD:22374 |
Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies |
| GARD:10739 |
Neuronal ceroid lipofuscinosis |
| GARD:3928 |
Neuronal intestinal pseudoobstruction |
| GARD:3971 |
Neuronal intranuclear inclusion disease |
| GARD:20726 |
Neuronal tumor |
| GARD:18262 |
Neuronopathy, distal hereditary motor, type iia |
| GARD:18263 |
Neuronopathy, distal hereditary motor, type iib |
| GARD:18264 |
Neuronopathy, distal hereditary motor, type iic |
| GARD:18265 |
Neuronopathy, distal hereditary motor, type iid |
| GARD:18266 |
Neuronopathy, distal hereditary motor, type va |
| GARD:18267 |
Neuronopathy, distal hereditary motor, type vb |
| GARD:18268 |
Neuronopathy, distal hereditary motor, type vc |
| GARD:18269 |
Neuronopathy, distal hereditary motor, type viia |
| GARD:18270 |
Neuronopathy, distal hereditary motor, type viib |
| GARD:19919 |
Neuropathy with hearing impairment |
| GARD:18567 |
Neuropathy, congenital hypomyelinating, 3 |
| GARD:18091 |
Neuropathy, hereditary motor and sensory, type via, with optic atrophy |
| GARD:18092 |
Neuropathy, hereditary motor and sensory, type vib, with optic atrophy |
| GARD:18444 |
Neuropathy, hereditary motor, with myopathic features |
| GARD:15095 |
Neuropathy, hereditary sensory and autonomic, type ia |
| GARD:15683 |
Neuropathy, hereditary sensory and autonomic, type ic |
| GARD:15129 |
Neuropathy, hereditary sensory and autonomic, type iia |
| GARD:15618 |
Neuropathy, hereditary sensory and autonomic, type iib |
| GARD:15695 |
Neuropathy, hereditary sensory, type id |
| GARD:15995 |
Neuropathy, hereditary sensory, type if |
| GARD:15774 |
Neuropathy, hereditary sensory, type iic |
| GARD:19878 |
Neurotrophic keratopathy |
| GARD:19819 |
Neurovascular malformation |
| GARD:3262 |
Neutral lipid storage disease |
| GARD:3979 |
Neutral lipid storage disease with ichthyosis |
| GARD:10288 |
Neutral lipid storage myopathy |
| GARD:6107 |
Neutropenia, lethal congenital, with eosinophilia |
| GARD:15616 |
Neutropenia, severe congenital, 2, autosomal dominant |
| GARD:16375 |
Neutropenia, severe congenital, 8, autosomal dominant |
| GARD:3982 |
Neutropenia-monocytopenia-deafness syndrome |
| GARD:17087 |
Neutrophil immunodeficiency syndrome |
| GARD:13073 |
Nevus comedonicus syndrome |
| GARD:10830 |
Nevus of Ito |
| GARD:20901 |
Nevus of Ota |
| GARD:12244 |
New-onset refractory status epilepticus |
| GARD:270 |
Nicolaides-Baraitser syndrome |
| GARD:7207 |
Niemann-Pick disease type C |
| GARD:20508 |
Niemann-Pick disease type C, adult neurologic onset |
| GARD:20507 |
Niemann-Pick disease type C, juvenile neurologic onset |
| GARD:20506 |
Niemann-Pick disease type C, late infantile neurologic onset |
| GARD:20505 |
Niemann-Pick disease type C, severe early infantile neurologic onset |
| GARD:20504 |
Niemann-Pick disease type C, severe perinatal form |
| GARD:15488 |
Night blindness, congenital stationary, autosomal dominant 1 |
| GARD:15096 |
Night blindness, congenital stationary, autosomal dominant 2 |
| GARD:15487 |
Night blindness, congenital stationary, autosomal dominant 3 |
| GARD:15306 |
Night blindness, congenital stationary, type 1a |
| GARD:15212 |
Night blindness, congenital stationary, type 1b |
| GARD:15631 |
Night blindness, congenital stationary, type 1c |
| GARD:15721 |
Night blindness, congenital stationary, type 1d |
| GARD:15816 |
Night blindness, congenital stationary, type 1e |
| GARD:15899 |
Night blindness, congenital stationary, type 1f |
| GARD:16099 |
Night blindness, congenital stationary, type 1g |
| GARD:16177 |
Night blindness, congenital stationary, type 1h |
| GARD:15251 |
Night blindness, congenital stationary, type 2a |
| GARD:16364 |
Night blindness, congenital stationary, type1i |
| GARD:3994 |
Night blindness-skeletal anomalies-dysmorphism syndrome |
| GARD:3904 |
Nijmegen breakage syndrome |
| GARD:17184 |
Nijmegen breakage syndrome-like disorder |
| GARD:19689 |
Nipah virus disease |
| GARD:7210 |
Nocardiosis |
| GARD:19075 |
Nodal marginal zone B-cell lymphoma |
| GARD:10562 |
Nodular cutaneous amyloidosis |
| GARD:21959 |
Nodular fasciitis |
| GARD:19137 |
Nodular lichen myxedematosus |
| GARD:19079 |
Nodular lymphocyte predominant Hodgkin lymphoma |
| GARD:16586 |
Nodular neuronal heterotopia |
| GARD:7879 |
Nodular non-suppurative panniculitis |
| GARD:10929 |
Nodular regenerative hyperplasia of the liver |
| GARD:20035 |
Nodular urticaria pigmentosa |
| GARD:4001 |
Noma |
| GARD:21278 |
Non progressive epilepsy and/or ataxia with myoclonus as a major feature |
| GARD:21185 |
Non syndromic limb overgrowth |
| GARD:10949 |
Non-24-hour sleep-wake syndrome |
| GARD:11953 |
Non-Hodgkin lymphoma |
| GARD:8231 |
Non-Langerhans cell histiocytosis |
| GARD:20140 |
Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations |
| GARD:2252 |
Non-acquired combined pituitary hormone deficiency |
| GARD:10603 |
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome |
| GARD:12556 |
Non-acquired isolated growth hormone deficiency |
| GARD:15020 |
Non-acquired panhypopituitarism |
| GARD:19272 |
Non-acquired pituitary hormone deficiency |
| GARD:19294 |
Non-acquired premature ovarian failure |
| GARD:12740 |
Non-amyloid fibrillary glomerulopathy |
| GARD:19073 |
Non-amyloid monoclonal immunoglobulin deposition disease |
| GARD:21137 |
Non-central nervous system-localized embryonal carcinoma |
| GARD:21474 |
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency |
| GARD:18729 |
Non-distal monosomy 10q |
| GARD:19330 |
Non-distal monosomy 12q |
| GARD:18737 |
Non-distal trisomy 10q |
| GARD:18738 |
Non-distal trisomy 13q |
| GARD:19323 |
Non-distal trisomy 9q |
| GARD:20363 |
Non-dystrophic myopathy |
| GARD:1862 |
Non-epidermolytic palmoplantar keratoderma |
| GARD:5027 |
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome |
| GARD:20530 |
Non-familial dilated cardiomyopathy |
| GARD:20524 |
Non-familial hypertrophic cardiomyopathy |
| GARD:21452 |
Non-familial rare disease with dilated cardiomyopathy |
| GARD:20535 |
Non-familial restrictive cardiomyopathy |
| GARD:22054 |
Non-functioning neuroendocrine tumor of pancreas |
| GARD:19248 |
Non-functioning paraganglioma |
| GARD:19159 |
Non-functioning pituitary adenoma |
| GARD:20537 |
Non-genetic cardiac rhythm disease |
| GARD:22291 |
Non-genetic systemic disease with glomerulopathy as a major feature |
| GARD:20655 |
Non-hereditary degenerative ataxia |
| GARD:17545 |
Non-hereditary retinoblastoma |
| GARD:18701 |
Non-histaminic angioedema |
| GARD:21495 |
Non-hypoproteinemic hypertrophic gastropathy |
| GARD:17580 |
Non-immune hydrops fetalis |
| GARD:21260 |
Non-infectious anterior uveitis |
| GARD:19111 |
Non-infectious posterior uveitis |
| GARD:22014 |
Non-inflammatory vasculopathy |
| GARD:21056 |
Non-insulinoma pancreatogenous hypoglycemia syndrome |
| GARD:10890 |
Non-involuting congenital hemangioma |
| GARD:20447 |
Non-papillary transitional cell carcinoma of the bladder |
| GARD:20413 |
Non-paraneoplastic sensory ganglionopathy |
| GARD:17429 |
Non-progressive cerebellar ataxia with intellectual disability |
| GARD:21819 |
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy |
| GARD:21826 |
Non-recovering obstetric brachial plexus lesion |
| GARD:18679 |
Non-rhizomelic chondrodysplasia punctata |
| GARD:17561 |
Non-seminomatous germ cell tumor of testis |
| GARD:21981 |
Non-severe combined immunodeficiency |
| GARD:22500 |
Non-specific autoimmune brainstem encephalitis with characteristic antibodies |
| GARD:22501 |
Non-specific autoimmune brainstem encephalitis without characteristic antibodies |
| GARD:22503 |
Non-specific autoimmune cerebellar ataxia with characteristic antibodies |
| GARD:22504 |
Non-specific autoimmune cerebellar ataxia without characteristic antibodies |
| GARD:22497 |
Non-specific autoimmune supratentorial encephalitis with characteristic antibodies |
| GARD:22498 |
Non-specific autoimmune supratentorial encephalitis without characteristic antibodies |
| GARD:15028 |
Non-specific early-onset epileptic encephalopathy |
| GARD:19167 |
Non-specific interstitial pneumonia |
| GARD:17965 |
Non-specific syndromic intellectual disability |
| GARD:3672 |
Non-spherocytic hemolytic anemia due to hexokinase deficiency |
| GARD:16534 |
Non-syndromic anorectal malformation |
| GARD:22433 |
Non-syndromic anorectal malformation with H-type fistula |
| GARD:22428 |
Non-syndromic anorectal malformation with anal stenosis |
| GARD:22420 |
Non-syndromic anorectal malformation with perineal fistula |
| GARD:22429 |
Non-syndromic anorectal malformation with pouch colon |
| GARD:22430 |
Non-syndromic anorectal malformation with rectal atresia |
| GARD:22431 |
Non-syndromic anorectal malformation with rectal stenosis |
| GARD:22421 |
Non-syndromic anorectal malformation with rectourethral fistula |
| GARD:22422 |
Non-syndromic anorectal malformation with rectourethral fistula, bulbar type |
| GARD:22423 |
Non-syndromic anorectal malformation with rectourethral fistula, prostatic type |
| GARD:22432 |
Non-syndromic anorectal malformation with rectovaginal fistula |
| GARD:22424 |
Non-syndromic anorectal malformation with rectovesical fistula |
| GARD:22425 |
Non-syndromic anorectal malformation with vestibular fistula |
| GARD:22427 |
Non-syndromic anorectal malformation without fistula |
| GARD:22479 |
Non-syndromic bicoronal and metopic craniosynostosis |
| GARD:22480 |
Non-syndromic bicoronal and sagittal craniosynostosis |
| GARD:16634 |
Non-syndromic bicoronal craniosynostosis |
| GARD:1575 |
Non-syndromic bilambdoid and sagittal craniosynostosis |
| GARD:22476 |
Non-syndromic bilambdoid craniosynostosis |
| GARD:19865 |
Non-syndromic central nervous system malformation |
| GARD:20338 |
Non-syndromic cerebral malformation |
| GARD:20041 |
Non-syndromic cerebral malformation due to abnormal neuronal migration |
| GARD:22426 |
Non-syndromic cloacal malformation |
| GARD:22028 |
Non-syndromic complex polydactyly |
| GARD:19910 |
Non-syndromic craniosynostosis |
| GARD:19863 |
Non-syndromic diaphragmatic or abdominal wall malformation |
| GARD:20211 |
Non-syndromic diaphragmatic or thoracic malformation |
| GARD:19855 |
Non-syndromic esophageal malformation |
| GARD:19857 |
Non-syndromic gastroduodenal malformation |
| GARD:19091 |
Non-syndromic genetic deafness |
| GARD:19859 |
Non-syndromic intestinal malformation |
| GARD:19872 |
Non-syndromic limb malformation |
| GARD:19210 |
Non-syndromic limb reduction defect |
| GARD:17277 |
Non-syndromic male infertility due to sperm motility disorder |
| GARD:22478 |
Non-syndromic metopic and sagittal craniosynostosis |
| GARD:16626 |
Non-syndromic metopic craniosynostosis |
| GARD:22474 |
Non-syndromic multisutural craniosynostosis |
| GARD:22475 |
Non-syndromic non-specific multisutural craniosynostosis |
| GARD:22481 |
Non-syndromic pansynostosis |
| GARD:4410 |
Non-syndromic polydactyly |
| GARD:19211 |
Non-syndromic polydactyly, syndactyly and/or hyperphalangy |
| GARD:10977 |
Non-syndromic pontocerebellar hypoplasia |
| GARD:22027 |
Non-syndromic postaxial polydactyly |
| GARD:16840 |
Non-syndromic posterior hypospadias |
| GARD:22026 |
Non-syndromic preaxial polydactyly |
| GARD:19217 |
Non-syndromic renal or urinary tract malformation |
| GARD:19867 |
Non-syndromic respiratory or mediastinal malformation |
| GARD:16633 |
Non-syndromic sagittal craniosynostosis |
| GARD:19100 |
Non-syndromic syndactyly |
| GARD:22477 |
Non-syndromic unicoronal and sagittal craniosynostosis |
| GARD:22470 |
Non-syndromic unicoronal craniosynostosis |
| GARD:22472 |
Non-syndromic unifrontosphenoidal craniosynostosis |
| GARD:22471 |
Non-syndromic unilambdoid craniosynostosis |
| GARD:22473 |
Non-syndromic unisquamosal craniosynostosis |
| GARD:22469 |
Non-syndromic unisutural craniosynostosis |
| GARD:20063 |
Non-syndromic urogenital tract malformation |
| GARD:20251 |
Non-syndromic urogenital tract malformation of female |
| GARD:20252 |
Non-syndromic urogenital tract malformation of male |
| GARD:20253 |
Non-syndromic urogenital tract malformation of male and female |
| GARD:20171 |
Non-syndromic uterovaginal malformation |
| GARD:19861 |
Non-syndromic visceral malformation |
| GARD:10955 |
Noonan syndrome |
| GARD:7223 |
Noonan syndrome 1 |
| GARD:16139 |
Noonan syndrome 10 |
| GARD:16357 |
Noonan syndrome 11 |
| GARD:16369 |
Noonan syndrome 12 |
| GARD:16419 |
Noonan syndrome 13 |
| GARD:10698 |
Noonan syndrome 2 |
| GARD:9885 |
Noonan syndrome 3 |
| GARD:10699 |
Noonan syndrome 4 |
| GARD:10700 |
Noonan syndrome 5 |
| GARD:10701 |
Noonan syndrome 6 |
| GARD:15693 |
Noonan syndrome 7 |
| GARD:15949 |
Noonan syndrome 8 |
| GARD:16137 |
Noonan syndrome 9 |
| GARD:19561 |
Noonan syndrome and Noonan-related syndrome |
| GARD:1100 |
Noonan syndrome with multiple lentigines |
| GARD:17577 |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia |
| GARD:10719 |
Noonan syndrome-like disorder with loose anagen hair |
| GARD:16533 |
Normosmic congenital hypogonadotropic hypogonadism |
| GARD:7224 |
Norrie disease |
| GARD:9179 |
North Carolina macular dystrophy |
| GARD:20000 |
Nose and cavum anomaly |
| GARD:21393 |
Null pituitary adenoma |
| GARD:17292 |
Null syndrome |
| GARD:19718 |
O'Sullivan-McLeod syndrome |
| GARD:4129 |
OSLAM syndrome |
| GARD:17631 |
Obesity due to CEP19 deficiency |
| GARD:21580 |
Obesity due to SIM1 deficiency |
| GARD:13015 |
Obesity due to congenital leptin deficiency |
| GARD:20169 |
Obesity due to congenital leptin resistance |
| GARD:17083 |
Obesity due to leptin receptor gene deficiency |
| GARD:16690 |
Obesity due to melanocortin 4 receptor deficiency |
| GARD:10823 |
Obesity due to pro-opiomelanocortin deficiency |
| GARD:16689 |
Obesity due to prohormone convertase I deficiency |
| GARD:19092 |
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome |
| GARD:19967 |
Oblique facial cleft |
| GARD:20969 |
Occipital encephalocele |
| GARD:4017 |
Occipital horn syndrome |
| GARD:17299 |
Occipital pachygyria and polymicrogyria |
| GARD:17200 |
Occult macular dystrophy |
| GARD:19704 |
Occupational allergic alveolitis |
| GARD:104 |
Ochoa syndrome |
| GARD:21124 |
Ocular albinism |
| GARD:592 |
Ocular albinism with late-onset sensorineural deafness |
| GARD:17915 |
Ocular anomalies-axonal neuropathy-developmental delay syndrome |
| GARD:8759 |
Ocular cicatricial pemphigoid |
| GARD:9756 |
Ocular cystinosis |
| GARD:16 |
Ocular motor apraxia, Cogan type |
| GARD:12074 |
Oculo-auriculo-vertebral spectrum |
| GARD:16606 |
Oculo-palato-cerebral syndrome |
| GARD:16988 |
Oculoauricular syndrome, Schorderet type |
| GARD:4031 |
Oculoauriculofrontonasal syndrome |
| GARD:3653 |
Oculoauriculovertebral spectrum with radial defects |
| GARD:105 |
Oculocerebral hypopigmentation syndrome, Cross type |
| GARD:4034 |
Oculocerebral hypopigmentation syndrome, Preus type |
| GARD:106 |
Oculocerebrocutaneous syndrome |
| GARD:17993 |
Oculocerebrodental syndrome |
| GARD:3084 |
Oculocerebrofacial syndrome, Kaufman type |
| GARD:3295 |
Oculocerebrorenal syndrome of Lowe |
| GARD:10958 |
Oculocutaneous albinism |
| GARD:4037 |
Oculocutaneous albinism type 1 |
| GARD:16721 |
Oculocutaneous albinism type 1A |
| GARD:594 |
Oculocutaneous albinism type 1B |
| GARD:4038 |
Oculocutaneous albinism type 2 |
| GARD:4039 |
Oculocutaneous albinism type 3 |
| GARD:16722 |
Oculocutaneous albinism type 4 |
| GARD:17598 |
Oculocutaneous albinism type 5 |
| GARD:17599 |
Oculocutaneous albinism type 6 |
| GARD:17531 |
Oculocutaneous albinism type 7 |
| GARD:18017 |
Oculocutaneous albinism type 8 |
| GARD:19548 |
Oculocutaneous or ocular albinism |
| GARD:212 |
Oculodental syndrome, Rutherfurd type |
| GARD:7239 |
Oculodentodigital dysplasia |
| GARD:15213 |
Oculodentodigital dysplasia, autosomal recessive |
| GARD:4628 |
Oculofaciocardiodental syndrome |
| GARD:5496 |
Oculogastrointestinal muscular dystrophy |
| GARD:18024 |
Oculogastrointestinal-neurodevelopmental syndrome |
| GARD:4046 |
Oculomaxillofacial dysostosis |
| GARD:19547 |
Oculomotor apraxia |
| GARD:992 |
Oculoosteocutaneous syndrome |
| GARD:16910 |
Oculootodental syndrome |
| GARD:7245 |
Oculopharyngeal muscular dystrophy |
| GARD:12592 |
Oculopharyngodistal myopathy |
| GARD:15097 |
Oculopharyngodistal myopathy 1 |
| GARD:16397 |
Oculopharyngodistal myopathy 2 |
| GARD:3395 |
Oculotrichoanal syndrome |
| GARD:16607 |
Oculotrichodysplasia |
| GARD:4051 |
Odonto-onycho dysplasia-alopecia syndrome |
| GARD:4054 |
Odonto-onycho-dermal dysplasia |
| GARD:16679 |
Odonto-tricho-ungual-digito-palmar syndrome |
| GARD:8717 |
Odontochondrodysplasia |
| GARD:17194 |
Odontohypophosphatasia |
| GARD:9632 |
Odontoleukodystrophy |
| GARD:238 |
Odontomatosis-aortae esophagus stenosis syndrome |
| GARD:4053 |
Odontomicronychial dysplasia |
| GARD:2381 |
Odontotrichomelic syndrome |
| GARD:21627 |
Off-periods in Parkinson disease not responding to oral treatment |
| GARD:17281 |
Ogden syndrome |
| GARD:10118 |
Oguchi disease |
| GARD:15660 |
Oguchi disease 2 |
| GARD:4064 |
Okamoto syndrome |
| GARD:9182 |
Okihiro syndrome |
| GARD:20787 |
Okihiro syndrome due to 20q13 microdeletion |
| GARD:20788 |
Okihiro syndrome due to a point mutation |
| GARD:15008 |
Okur-Chung neurodevelopmental syndrome (OCNDS) |
| GARD:4261 |
Oligoarticular juvenile idiopathic arthritis |
| GARD:20712 |
Oligoastrocytic tumor |
| GARD:9769 |
Oligoastrocytoma |
| GARD:18925 |
Oligocone trichromacy |
| GARD:13156 |
Oligodendroglial tumor |
| GARD:9953 |
Oligodendroglioma |
| GARD:16908 |
Oligodontia |
| GARD:17376 |
Oligodontia-cancer predisposition syndrome |
| GARD:4066 |
Oligomeganephronia |
| GARD:18977 |
Oligosaccharidosis |
| GARD:4069 |
Oliver syndrome |
| GARD:4070 |
Olivopontocerebellar atrophy-deafness syndrome |
| GARD:7251 |
Ollier disease |
| GARD:15818 |
Olmsted syndrome 1 |
| GARD:16437 |
Olmsted syndrome 2 |
| GARD:15273 |
Olmsted syndrome, x-linked |
| GARD:8198 |
Omenn syndrome |
| GARD:16608 |
Omodysplasia |
| GARD:16540 |
Omphalocele |
| GARD:9850 |
Omphalocele syndrome, Shprintzen-Goldberg type |
| GARD:18586 |
Omphalocele, autosomal |
| GARD:18587 |
Omphalocele, x-linked |
| GARD:10354 |
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome |
| GARD:4081 |
Omphalomesenteric cyst |
| GARD:8254 |
Omsk hemorrhagic fever |
| GARD:7252 |
Onchocerciasis |
| GARD:9652 |
Oncogenic osteomalacia |
| GARD:11007 |
Onychocytic matricoma |
| GARD:21234 |
Onychomatricoma |
| GARD:18500 |
Oocyte maturation defect 10 |
| GARD:18496 |
Oocyte maturation defect 2 |
| GARD:18497 |
Oocyte maturation defect 4 |
| GARD:18498 |
Oocyte maturation defect 8 |
| GARD:18499 |
Oocyte maturation defect 9 |
| GARD:20949 |
Open iniencephaly |
| GARD:4365 |
Ophthalmomandibulomelic dysplasia |
| GARD:3236 |
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome |
| GARD:193 |
Opitz GBBB syndrome |
| GARD:4098 |
Opsismodysplasia |
| GARD:10009 |
Opsoclonus-myoclonus syndrome |
| GARD:15099 |
Optic atrophy 1 |
| GARD:18200 |
Optic atrophy 10 with or without ataxia, mental retardation, and seizures |
| GARD:18201 |
Optic atrophy 11 |
| GARD:16399 |
Optic atrophy 12 |
| GARD:15379 |
Optic atrophy 4 |
| GARD:10201 |
Optic atrophy 5 |
| GARD:10200 |
Optic atrophy 6 |
| GARD:16148 |
Optic atrophy 8 |
| GARD:18199 |
Optic atrophy 9 |
| GARD:15098 |
Optic atrophy with demyelinating disease of cns |
| GARD:15057 |
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy |
| GARD:402 |
Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant |
| GARD:22231 |
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome |
| GARD:12903 |
Optic atrophy-intellectual disability syndrome |
| GARD:22130 |
Optic disc pit |
| GARD:4107 |
Optic pathway glioma |
| GARD:18800 |
Oral erosive lichen |
| GARD:7264 |
Oral submucous fibrosis |
| GARD:22069 |
Oral-facial-digital syndrome with short stature and brachymesophalangy |
| GARD:18845 |
Orbital leiomyoma |
| GARD:9433 |
Organic aciduria |
| GARD:20079 |
Orgasm-induced seizures |
| GARD:8391 |
Ornithine transcarbamylase deficiency |
| GARD:18306 |
Orofacial cleft 10 |
| GARD:18303 |
Orofacial cleft 11 |
| GARD:18307 |
Orofacial cleft 15 |
| GARD:18305 |
Orofacial cleft 5 |
| GARD:18304 |
Orofacial cleft 6, susceptibility to |
| GARD:18308 |
Orofacial cleft 8 |
| GARD:19908 |
Orofacial clefting syndrome |
| GARD:10692 |
Orofaciodigital syndrome |
| GARD:4121 |
Orofaciodigital syndrome type 1 |
| GARD:4061 |
Orofaciodigital syndrome type 10 |
| GARD:4118 |
Orofaciodigital syndrome type 11 |
| GARD:10693 |
Orofaciodigital syndrome type 12 |
| GARD:10694 |
Orofaciodigital syndrome type 13 |
| GARD:13655 |
Orofaciodigital syndrome type 14 |
| GARD:3701 |
Orofaciodigital syndrome type 2 |
| GARD:10518 |
Orofaciodigital syndrome type 3 |
| GARD:816 |
Orofaciodigital syndrome type 4 |
| GARD:4120 |
Orofaciodigital syndrome type 5 |
| GARD:4412 |
Orofaciodigital syndrome type 6 |
| GARD:4060 |
Orofaciodigital syndrome type 8 |
| GARD:10520 |
Orofaciodigital syndrome type 9 |
| GARD:16197 |
Orofaciodigital syndrome xv |
| GARD:19243 |
Oromandibular dystonia |
| GARD:19996 |
Oromandibular-limb anomalies syndrome |
| GARD:4116 |
Oromandibular-limb hypogenesis syndrome |
| GARD:18861 |
Oroya fever |
| GARD:19364 |
Osgood-Schlatter disease |
| GARD:18921 |
Ossification anomalies-psychomotor developmental delay syndrome |
| GARD:18854 |
Osteoblastoma |
| GARD:12703 |
Osteochondritis dissecans |
| GARD:18776 |
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome |
| GARD:12704 |
Osteochondrosis |
| GARD:21669 |
Osteochondrosis of genetic origin |
| GARD:2380 |
Osteochondrosis of the metatarsal bone |
| GARD:6842 |
Osteochondrosis of the tarsal bone |
| GARD:21782 |
Osteoclastic giant cell tumor of pancreas |
| GARD:3396 |
Osteocraniostenosis |
| GARD:10887 |
Osteofibrous dysplasia |
| GARD:1017 |
Osteogenesis imperfecta |
| GARD:8694 |
Osteogenesis imperfecta type 1 |
| GARD:10142 |
Osteogenesis imperfecta type 2 |
| GARD:8695 |
Osteogenesis imperfecta type 3 |
| GARD:8696 |
Osteogenesis imperfecta type 4 |
| GARD:8699 |
Osteogenesis imperfecta type 5 |
| GARD:15100 |
Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures |
| GARD:10619 |
Osteogenesis imperfecta, type ix |
| GARD:8700 |
Osteogenesis imperfecta, type vi |
| GARD:8701 |
Osteogenesis imperfecta, type vii |
| GARD:10152 |
Osteogenesis imperfecta, type viii |
| GARD:12874 |
Osteogenesis imperfecta, type x |
| GARD:12875 |
Osteogenesis imperfecta, type xi |
| GARD:15722 |
Osteogenesis imperfecta, type xii |
| GARD:15856 |
Osteogenesis imperfecta, type xiii |
| GARD:15901 |
Osteogenesis imperfecta, type xiv |
| GARD:15919 |
Osteogenesis imperfecta, type xv |
| GARD:16072 |
Osteogenesis imperfecta, type xvi |
| GARD:16126 |
Osteogenesis imperfecta, type xvii |
| GARD:587 |
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome |
| GARD:4142 |
Osteoglosphonic dysplasia |
| GARD:391 |
Osteomesopyknosis |
| GARD:21657 |
Osteonecrosis |
| GARD:21667 |
Osteonecrosis of genetic origin |
| GARD:21663 |
Osteonecrosis of the jaw |
| GARD:4148 |
Osteopathia striata-cranial sclerosis syndrome |
| GARD:5562 |
Osteopathia striata-pigmentary dermopathy-white forelock syndrome |
| GARD:354 |
Osteopenia-intellectual disability-sparse hair syndrome |
| GARD:4155 |
Osteopetrosis and related disorders |
| GARD:4154 |
Osteopetrosis with renal tubular acidosis |
| GARD:5993 |
Osteopetrosis, autosomal recessive 4 |
| GARD:2579 |
Osteopetrosis, autosomal recessive 1 |
| GARD:4157 |
Osteopetrosis, autosomal recessive 2 |
| GARD:4153 |
Osteopetrosis, autosomal recessive 5 |
| GARD:15905 |
Osteopetrosis, autosomal recessive 8 |
| GARD:10106 |
Osteopetrosis-hypogammaglobulinemia syndrome |
| GARD:15218 |
Osteoporosis, juvenile |
| GARD:18778 |
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome |
| GARD:404 |
Osteoporosis-oculocutaneous hypopigmentation syndrome |
| GARD:4160 |
Osteoporosis-pseudoglioma syndrome |
| GARD:22138 |
Osteoradionecrosis of the mandible |
| GARD:7284 |
Osteosarcoma |
| GARD:20147 |
Osteosclerosis-developmental delay-craniosynostosis syndrome |
| GARD:9904 |
Osteosclerosis-ichthyosis-premature ovarian failure syndrome |
| GARD:17931 |
Osteosclerotic metaphyseal dysplasia |
| GARD:19119 |
Other acquired skin disease |
| GARD:19010 |
Other dermis disorder |
| GARD:18990 |
Other epidermal disorder |
| GARD:21970 |
Other genetic dermis disorder |
| GARD:18991 |
Other genetic epidermal disease |
| GARD:21514 |
Other immunodeficiency syndrome with predominantly antibody defects |
| GARD:21509 |
Other immunodeficiency syndromes due to defects in innate immunity |
| GARD:19152 |
Other metabolic disease |
| GARD:20559 |
Other metabolic disease with epilepsy |
| GARD:18978 |
Other metabolic disease with skin involvement |
| GARD:20217 |
Other rare diabetes mellitus |
| GARD:21001 |
Other syndrome with a central nervous system malformation as a major feature |
| GARD:19820 |
Other syndrome with lissencephaly as a major feature |
| GARD:4168 |
Otodental syndrome |
| GARD:4169 |
Otofaciocervical syndrome |
| GARD:16502 |
Otofaciocervical syndrome 1 |
| GARD:16503 |
Otofaciocervical syndrome 2, with t-cell deficiency |
| GARD:19979 |
Otomandibular dysplasia |
| GARD:19994 |
Otomandibular dysplasia associated with monogenic syndromes |
| GARD:4170 |
Otoonychoperoneal syndrome |
| GARD:21570 |
Otopalatodigital syndrome spectrum disorder |
| GARD:5121 |
Otopalatodigital syndrome type 1 |
| GARD:5802 |
Otopalatodigital syndrome type 2 |
| GARD:4130 |
Otospondylomegaepiphyseal dysplasia |
| GARD:7295 |
Ovarian cancer |
| GARD:18039 |
Ovarian dysgenesis 1 |
| GARD:18040 |
Ovarian dysgenesis 2 |
| GARD:18041 |
Ovarian dysgenesis 3 |
| GARD:18042 |
Ovarian dysgenesis 6 |
| GARD:18043 |
Ovarian dysgenesis 7 |
| GARD:21375 |
Ovarian fibroma |
| GARD:21376 |
Ovarian fibrothecoma |
| GARD:16668 |
Ovarian hyperstimulation syndrome |
| GARD:16918 |
Ovarioleukodystrophy |
| GARD:22021 |
Overgrowth or tall stature syndrome with skeletal involvement |
| GARD:19213 |
Overgrowth syndrome |
| GARD:22032 |
Overgrowth syndrome with 2q37 translocation |
| GARD:18646 |
Overgrowth-macrocephaly-facial dysmorphism syndrome |
| GARD:10066 |
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome |
| GARD:19903 |
Overgrowth/obesity syndrome |
| GARD:4183 |
Overhydrated hereditary stomatocytosis |
| GARD:20352 |
Overlap myositis |
| GARD:20696 |
Overlapping connective tissue disease |
| GARD:617 |
Oxoglutaric aciduria |
| GARD:15005 |
PACAK-ZHUANG syndrome |
| GARD:3086 |
PAGOD syndrome |
| GARD:7312 |
PANDAS |
| GARD:4223 |
PARC syndrome |
| GARD:17736 |
PCNA-related progressive neurodegenerative photosensitivity syndrome |
| GARD:17742 |
PDE4D haploinsufficiency syndrome |
| GARD:4264 |
PEHO syndrome |
| GARD:16911 |
PEHO-like syndrome |
| GARD:13447 |
PENS syndrome |
| GARD:5657 |
PFAPA syndrome |
| GARD:4329 |
PGM1-CDG |
| GARD:4331 |
PGM3-CDG |
| GARD:8338 |
PHACE syndrome |
| GARD:4465 |
PHAVER syndrome |
| GARD:22367 |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| GARD:22301 |
PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis |
| GARD:22209 |
PIK3CA-related overgrowth syndrome |
| GARD:12567 |
PLA2G6-associated neurodegeneration |
| GARD:17960 |
PLAA-associated neurodevelopmental disorder |
| GARD:17369 |
PLCG2-associated antibody deficiency and immune dysregulation |
| GARD:2148 |
PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement |
| GARD:22217 |
PLG-related hereditary angioedema with normal C1Inh |
| GARD:12601 |
PLIN1-related familial partial lipodystrophy |
| GARD:9826 |
PMM2-CDG |
| GARD:17851 |
PMP2-related Charcot-Marie-Tooth disease type 1 |
| GARD:17859 |
PMP22-RAI1 contiguous gene duplication syndrome |
| GARD:7411 |
POEMS syndrome |
| GARD:17869 |
POGLUT1-related limb-girdle muscular dystrophy R21 |
| GARD:12540 |
POMGNT1-related limb-girdle muscular dystrophy R15 |
| GARD:22271 |
POMGNT2-related limb-girdle muscular dystrophy R24 |
| GARD:12535 |
POMT1-related limb-girdle muscular dystrophy R11 |
| GARD:12539 |
POMT2-related limb-girdle muscular dystrophy R14 |
| GARD:12600 |
PPARG-related familial partial lipodystrophy |
| GARD:19358 |
PPoma |
| GARD:21738 |
PRKAR1B-related neurodegenerative dementia with intermediate filaments |
| GARD:17985 |
PRUNE1-related neurological syndrome |
| GARD:12800 |
PTEN hamartoma tumor syndrome |
| GARD:22351 |
PUM1-associated developmental disability-ataxia-seizure syndrome |
| GARD:17739 |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| GARD:17740 |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation |
| GARD:17340 |
PYCR1-related De Barsy syndrome |
| GARD:17873 |
PYCR2-related microcephaly-progressive leukoencephalopathy |
| GARD:7299 |
Pachydermoperiostosis |
| GARD:409 |
Pachygyria-intellectual disability-epilepsy syndrome |
| GARD:10753 |
Pachyonychia congenita |
| GARD:15102 |
Pachyonychia congenita 1 |
| GARD:15103 |
Pachyonychia congenita 2 |
| GARD:16005 |
Pachyonychia congenita 3 |
| GARD:16006 |
Pachyonychia congenita 4 |
| GARD:15219 |
Pachyonychia congenita, autosomal recessive |
| GARD:7303 |
Paget disease of the nipple |
| GARD:3439 |
Pai syndrome |
| GARD:12706 |
Painful legs and moving toes syndrome |
| GARD:11006 |
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome |
| GARD:17862 |
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |
| GARD:7305 |
Pallister-Hall syndrome |
| GARD:9172 |
Palmoplantar keratoderma i, striate, focal, or diffuse |
| GARD:16967 |
Palmoplantar keratoderma, Nagashima type |
| GARD:18487 |
Palmoplantar keratoderma, nonepidermolytic, focal 1 |
| GARD:18488 |
Palmoplantar keratoderma, nonepidermolytic, focal 2 |
| GARD:15081 |
Palmoplantar keratoderma, punctate type ia |
| GARD:15884 |
Palmoplantar keratoderma, punctate type ib |
| GARD:16733 |
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome |
| GARD:3094 |
Palmoplantar keratoderma-deafness syndrome |
| GARD:3102 |
Palmoplantar keratoderma-esophageal carcinoma syndrome |
| GARD:17977 |
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome |
| GARD:3095 |
Palmoplantar keratoderma-spastic paralysis syndrome |
| GARD:15104 |
Pancreas, dorsal, agenesis of |
| GARD:15220 |
Pancreatic agenesis 1 |
| GARD:16033 |
Pancreatic agenesis 2 |
| GARD:17992 |
Pancreatic agenesis-holoprosencephaly syndrome |
| GARD:15401 |
Pancreatic cancer, susceptibility to, 1 |
| GARD:15650 |
Pancreatic cancer, susceptibility to, 2 |
| GARD:15651 |
Pancreatic cancer, susceptibility to, 3 |
| GARD:15788 |
Pancreatic cancer, susceptibility to, 4 |
| GARD:17402 |
Pancreatic colipase deficiency |
| GARD:347 |
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| GARD:17095 |
Pancreatic insufficiency-anemia-hyperostosis syndrome |
| GARD:17401 |
Pancreatic triacylglycerol lipase deficiency |
| GARD:4210 |
Pancreatoblastoma |
| GARD:17442 |
Pancytopenia due to IKZF1 mutations |
| GARD:17655 |
Pancytopenia-developmental delay syndrome |
| GARD:19285 |
Panhypophysitis |
| GARD:6737 |
Panhypopituitarism, x-linked |
| GARD:19365 |
Panner disease |
| GARD:19128 |
Panniculitis-induced localized lipodystrophy |
| GARD:6564 |
Pantothenate kinase-associated neurodegeneration |
| GARD:8577 |
Panuveitis |
| GARD:20497 |
Papillary carcinoma of the cervix uteri |
| GARD:20730 |
Papillary glioneuronal tumor |
| GARD:9572 |
Papillary renal cell carcinoma |
| GARD:15358 |
Papillary thyroid microcarcinoma |
| GARD:20725 |
Papillary tumor of the pineal region |
| GARD:4214 |
Papilloma of choroid plexus |
| GARD:3100 |
Papillon-Lefèvre syndrome |
| GARD:20583 |
Papular elastorrhexis |
| GARD:19139 |
Papular mucinosis of infancy |
| GARD:20021 |
Papular xanthoma |
| GARD:21931 |
Paracetamol poisoning |
| GARD:19624 |
Parachute tricuspid valve |
| GARD:7323 |
Paracoccidioidomycosis |
| GARD:7324 |
Paragangliomas 1 |
| GARD:10544 |
Paragangliomas 2 |
| GARD:10545 |
Paragangliomas 3 |
| GARD:10546 |
Paragangliomas 4 |
| GARD:15763 |
Paragangliomas 5 |
| GARD:16354 |
Paragangliomas 6 |
| GARD:16356 |
Paragangliomas 7 |
| GARD:10359 |
Paralysis agitans, juvenile, of hunt |
| GARD:19997 |
Paralytic facial malformation |
| GARD:19975 |
Paramedian facial cleft |
| GARD:16973 |
Paramedian nasal cleft |
| GARD:7325 |
Paramyotonia congenita of Von Eulenburg |
| GARD:2598 |
Parana hard skin syndrome |
| GARD:22493 |
Paraneoplastic cerebellar degeneration |
| GARD:22499 |
Paraneoplastic isolated brainstem encephalitis |
| GARD:7326 |
Paraneoplastic neurologic syndrome |
| GARD:18858 |
Paraneoplastic pemphigus |
| GARD:20414 |
Paraneoplastic sensory ganglionopathy |
| GARD:21069 |
Paraneoplastic uveitis |
| GARD:20615 |
Paraparetic variant of Guillain-Barré syndrome |
| GARD:2344 |
Paraplegia-intellectual disability-hyperkeratosis syndrome |
| GARD:18806 |
Paraquat poisoning |
| GARD:20379 |
Parasitic myositis |
| GARD:4222 |
Parastremmatic dwarfism |
| GARD:21550 |
Paratesticular adenocarcinoma |
| GARD:7329 |
Parathyroid carcinoma |
| GARD:21855 |
Paratyphoid fever |
| GARD:22295 |
Parenteral nutrition-associated cholestasis |
| GARD:20970 |
Parietal encephalocele |
| GARD:18051 |
Parietal foramina 1 |
| GARD:18053 |
Parietal foramina 2 |
| GARD:18052 |
Parietal foramina 3 |
| GARD:17207 |
Parietal foramina with clavicular hypoplasia |
| GARD:4224 |
Paris-Trousseau thrombocytopenia |
| GARD:9787 |
Parkes Weber syndrome |
| GARD:18474 |
Parkinson disease 1, autosomal dominant |
| GARD:18607 |
Parkinson disease 10 |
| GARD:18477 |
Parkinson disease 11, autosomal dominant, susceptibility to |
| GARD:18604 |
Parkinson disease 12 |
| GARD:18608 |
Parkinson disease 13, autosomal dominant, susceptibility to |
| GARD:18478 |
Parkinson disease 17 |
| GARD:18479 |
Parkinson disease 18, autosomal dominant, susceptibility to |
| GARD:18461 |
Parkinson disease 19a, juvenile-onset |
| GARD:9642 |
Parkinson disease 2, autosomal recessive juvenile |
| GARD:18462 |
Parkinson disease 20, early-onset |
| GARD:18480 |
Parkinson disease 21 |
| GARD:18610 |
Parkinson disease 23, autosomal recessive early-onset |
| GARD:8578 |
Parkinson disease 3, autosomal dominant |
| GARD:18475 |
Parkinson disease 4, autosomal dominant |
| GARD:18609 |
Parkinson disease 5, autosomal dominant, susceptibility to |
| GARD:18605 |
Parkinson disease 6, autosomal recessive early-onset |
| GARD:18606 |
Parkinson disease 7, autosomal recessive early-onset |
| GARD:18476 |
Parkinson disease 8, autosomal dominant |
| GARD:9239 |
Parkinson-dementia complex of Guam |
| GARD:9175 |
Parkinsonian-pyramidal syndrome |
| GARD:18028 |
Parkinsonism with polyneuropathy |
| GARD:7335 |
Paroxysmal cold hemoglobinuria |
| GARD:18721 |
Paroxysmal dyskinesia |
| GARD:20340 |
Paroxysmal dystonia |
| GARD:16656 |
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity |
| GARD:10541 |
Paroxysmal exertion-induced dyskinesia |
| GARD:12854 |
Paroxysmal extreme pain disorder |
| GARD:10794 |
Paroxysmal hemicrania |
| GARD:8721 |
Paroxysmal kinesigenic dyskinesia |
| GARD:7337 |
Paroxysmal nocturnal hemoglobinuria |
| GARD:15958 |
Paroxysmal nocturnal hemoglobinuria 2 |
| GARD:8722 |
Paroxysmal non-kinesigenic dyskinesia |
| GARD:15510 |
Paroxysmal nonkinesigenic dyskinesia 2 |
| GARD:5692 |
Partial androgen insensitivity syndrome |
| GARD:4229 |
Partial atrioventricular septal defect |
| GARD:22323 |
Partial atrioventricular septal defect with ventricular hypoplasia |
| GARD:22324 |
Partial atrioventricular septal defect without ventricular hypoplasia |
| GARD:19422 |
Partial autosomal monosomy |
| GARD:19420 |
Partial autosomal trisomy/tetrasomy |
| GARD:20172 |
Partial bilateral aplasia of the Müllerian ducts |
| GARD:16574 |
Partial chromosome Y deletion |
| GARD:21707 |
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
| GARD:19607 |
Partial cryptophthalmia |
| GARD:19118 |
Partial deep dermal and full thickness burns |
| GARD:20789 |
Partial deletion of chromosome 1 |
| GARD:20798 |
Partial deletion of chromosome 10 |
| GARD:20799 |
Partial deletion of chromosome 11 |
| GARD:21115 |
Partial deletion of chromosome 12 |
| GARD:20801 |
Partial deletion of chromosome 16 |
| GARD:20802 |
Partial deletion of chromosome 17 |
| GARD:20803 |
Partial deletion of chromosome 18 |
| GARD:20804 |
Partial deletion of chromosome 19 |
| GARD:20790 |
Partial deletion of chromosome 2 |
| GARD:20805 |
Partial deletion of chromosome 20 |
| GARD:20791 |
Partial deletion of chromosome 3 |
| GARD:20792 |
Partial deletion of chromosome 4 |
| GARD:20793 |
Partial deletion of chromosome 5 |
| GARD:20794 |
Partial deletion of chromosome 6 |
| GARD:20795 |
Partial deletion of chromosome 7 |
| GARD:20796 |
Partial deletion of chromosome 8 |
| GARD:20797 |
Partial deletion of chromosome 9 |
| GARD:20911 |
Partial deletion of chromosome X |
| GARD:20821 |
Partial deletion of the long arm of chromosome 1 |
| GARD:20831 |
Partial deletion of the long arm of chromosome 11 |
| GARD:20800 |
Partial deletion of the long arm of chromosome 12 |
| GARD:20832 |
Partial deletion of the long arm of chromosome 13 |
| GARD:20833 |
Partial deletion of the long arm of chromosome 14 |
| GARD:20834 |
Partial deletion of the long arm of chromosome 15 |
| GARD:20835 |
Partial deletion of the long arm of chromosome 16 |
| GARD:20836 |
Partial deletion of the long arm of chromosome 17 |
| GARD:20837 |
Partial deletion of the long arm of chromosome 18 |
| GARD:20838 |
Partial deletion of the long arm of chromosome 19 |
| GARD:20822 |
Partial deletion of the long arm of chromosome 2 |
| GARD:20839 |
Partial deletion of the long arm of chromosome 20 |
| GARD:20840 |
Partial deletion of the long arm of chromosome 21 |
| GARD:20841 |
Partial deletion of the long arm of chromosome 22 |
| GARD:20823 |
Partial deletion of the long arm of chromosome 3 |
| GARD:20824 |
Partial deletion of the long arm of chromosome 4 |
| GARD:20825 |
Partial deletion of the long arm of chromosome 5 |
| GARD:20826 |
Partial deletion of the long arm of chromosome 6 |
| GARD:20827 |
Partial deletion of the long arm of chromosome 7 |
| GARD:20828 |
Partial deletion of the long arm of chromosome 8 |
| GARD:20915 |
Partial deletion of the long arm of chromosome X |
| GARD:20806 |
Partial deletion of the short arm of chromosome 1 |
| GARD:20814 |
Partial deletion of the short arm of chromosome 10 |
| GARD:20815 |
Partial deletion of the short arm of chromosome 11 |
| GARD:21404 |
Partial deletion of the short arm of chromosome 12 |
| GARD:20816 |
Partial deletion of the short arm of chromosome 16 |
| GARD:20818 |
Partial deletion of the short arm of chromosome 18 |
| GARD:20819 |
Partial deletion of the short arm of chromosome 19 |
| GARD:20807 |
Partial deletion of the short arm of chromosome 2 |
| GARD:37 |
Partial deletion of the short arm of chromosome 3 |
| GARD:20808 |
Partial deletion of the short arm of chromosome 4 |
| GARD:20809 |
Partial deletion of the short arm of chromosome 5 |
| GARD:20810 |
Partial deletion of the short arm of chromosome 6 |
| GARD:20811 |
Partial deletion of the short arm of chromosome 7 |
| GARD:20812 |
Partial deletion of the short arm of chromosome 8 |
| GARD:20813 |
Partial deletion of the short arm of chromosome 9 |
| GARD:20842 |
Partial duplication of chromosome 1 |
| GARD:20851 |
Partial duplication of chromosome 10 |
| GARD:20852 |
Partial duplication of chromosome 11 |
| GARD:20854 |
Partial duplication of chromosome 16 |
| GARD:20855 |
Partial duplication of chromosome 17 |
| GARD:20857 |
Partial duplication of chromosome 19 |
| GARD:20843 |
Partial duplication of chromosome 2 |
| GARD:20844 |
Partial duplication of chromosome 3 |
| GARD:20845 |
Partial duplication of chromosome 4 |
| GARD:20847 |
Partial duplication of chromosome 6 |
| GARD:20848 |
Partial duplication of chromosome 7 |
| GARD:20849 |
Partial duplication of chromosome 8 |
| GARD:20916 |
Partial duplication of chromosome X |
| GARD:20872 |
Partial duplication of the long arm of chromosome 1 |
| GARD:20881 |
Partial duplication of the long arm of chromosome 10 |
| GARD:20882 |
Partial duplication of the long arm of chromosome 11 |
| GARD:20883 |
Partial duplication of the long arm of chromosome 13 |
| GARD:20884 |
Partial duplication of the long arm of chromosome 14 |
| GARD:20885 |
Partial duplication of the long arm of chromosome 15 |
| GARD:20887 |
Partial duplication of the long arm of chromosome 17 |
| GARD:20889 |
Partial duplication of the long arm of chromosome 19 |
| GARD:20873 |
Partial duplication of the long arm of chromosome 2 |
| GARD:20891 |
Partial duplication of the long arm of chromosome 22 |
| GARD:20874 |
Partial duplication of the long arm of chromosome 3 |
| GARD:20875 |
Partial duplication of the long arm of chromosome 4 |
| GARD:20877 |
Partial duplication of the long arm of chromosome 6 |
| GARD:20878 |
Partial duplication of the long arm of chromosome 7 |
| GARD:20879 |
Partial duplication of the long arm of chromosome 8 |
| GARD:20917 |
Partial duplication of the long arm of chromosome X |
| GARD:20919 |
Partial duplication of the short arm of chromosome 1 |
| GARD:20867 |
Partial duplication of the short arm of chromosome 10 |
| GARD:20868 |
Partial duplication of the short arm of chromosome 11 |
| GARD:20869 |
Partial duplication of the short arm of chromosome 16 |
| GARD:20870 |
Partial duplication of the short arm of chromosome 17 |
| GARD:21876 |
Partial duplication of the short arm of chromosome 19 |
| GARD:20859 |
Partial duplication of the short arm of chromosome 2 |
| GARD:20860 |
Partial duplication of the short arm of chromosome 3 |
| GARD:20861 |
Partial duplication of the short arm of chromosome 4 |
| GARD:20863 |
Partial duplication of the short arm of chromosome 6 |
| GARD:20864 |
Partial duplication of the short arm of chromosome 7 |
| GARD:20865 |
Partial duplication of the short arm of chromosome 8 |
| GARD:12421 |
Partial duplication of the short arm of chromosome X |
| GARD:20749 |
Partial hydatidiform mole |
| GARD:20830 |
Partial monosomy of the long arm of chromosome 10 |
| GARD:20829 |
Partial monosomy of the long arm of chromosome 9 |
| GARD:20817 |
Partial monosomy of the short arm of chromosome 17 |
| GARD:20820 |
Partial monosomy of the short arm of chromosome 20 |
| GARD:20912 |
Partial monosomy of the short arm of chromosome X |
| GARD:4203 |
Partial pancreatic agenesis |
| GARD:20182 |
Partial septate uterus |
| GARD:20858 |
Partial trisomy of chromosome 20 |
| GARD:20886 |
Partial trisomy of the long arm of chromosome 16 |
| GARD:20888 |
Partial trisomy of the long arm of chromosome 18 |
| GARD:20890 |
Partial trisomy of the long arm of chromosome 20 |
| GARD:20876 |
Partial trisomy of the long arm of chromosome 5 |
| GARD:20880 |
Partial trisomy of the long arm of chromosome 9 |
| GARD:20856 |
Partial trisomy/tetrasomy of chromosome 18 |
| GARD:20846 |
Partial trisomy/tetrasomy of chromosome 5 |
| GARD:20850 |
Partial trisomy/tetrasomy of chromosome 9 |
| GARD:20853 |
Partial trisomy/tetrasomy of the short arm of chromosome 12 |
| GARD:20871 |
Partial trisomy/tetrasomy of the short arm of chromosome 18 |
| GARD:20862 |
Partial trisomy/tetrasomy of the short arm of chromosome 5 |
| GARD:20866 |
Partial trisomy/tetrasomy of the short arm of chromosome 9 |
| GARD:21911 |
Partially involuting congenital hemangioma |
| GARD:4235 |
Partington syndrome |
| GARD:8709 |
Patella aplasia/hypoplasia |
| GARD:19209 |
Patellar dysostosis |
| GARD:7342 |
Patent ductus arteriosus 1 |
| GARD:18489 |
Patent ductus arteriosus 2 |
| GARD:18490 |
Patent ductus arteriosus 3 |
| GARD:17148 |
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome |
| GARD:21798 |
Patent urachus |
| GARD:20777 |
Paternal 20q13.2q13.3 microdeletion syndrome |
| GARD:19425 |
Paternal uniparental disomy |
| GARD:20688 |
Paternal uniparental disomy of chromosome 1 |
| GARD:19678 |
Paternal uniparental disomy of chromosome 13 |
| GARD:19343 |
Paternal uniparental disomy of chromosome 20 |
| GARD:19344 |
Paternal uniparental disomy of chromosome 21 |
| GARD:19339 |
Paternal uniparental disomy of chromosome 5 |
| GARD:19340 |
Paternal uniparental disomy of chromosome 6 |
| GARD:19341 |
Paternal uniparental disomy of chromosome 7 |
| GARD:20784 |
Paternal uniparental disomy of chromosome X |
| GARD:9821 |
Pattern dystrophy |
| GARD:4260 |
Patterson-Stevenson-Fontaine syndrome |
| GARD:19175 |
Pauci-immune glomerulonephritis |
| GARD:19379 |
Pauci-immune glomerulonephritis with ANCA |
| GARD:19380 |
Pauci-immune glomerulonephritis without ANCA |
| GARD:7343 |
Pearson syndrome |
| GARD:374 |
Pectus excavatum-macrocephaly-dysplastic nails syndrome |
| GARD:21824 |
Pediatric arterial ischemic stroke |
| GARD:21998 |
Pediatric collagenous gastritis |
| GARD:9331 |
Pediatric hepatocellular carcinoma |
| GARD:10443 |
Pediatric multiple sclerosis |
| GARD:19219 |
Pediatric systemic lupus erythematosus |
| GARD:22190 |
Pediatric-onset Graves disease |
| GARD:22188 |
Pediatric-onset glaucoma |
| GARD:2486 |
Pediatric-onset glaucoma of genetic origin |
| GARD:7347 |
Peeling skin syndrome |
| GARD:18426 |
Peeling skin syndrome 4 |
| GARD:18427 |
Peeling skin syndrome 5 |
| GARD:17258 |
Peeling skin syndrome type A |
| GARD:17259 |
Peeling skin syndrome type B |
| GARD:20904 |
Peeling skin syndrome type C |
| GARD:17764 |
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome |
| GARD:4265 |
Pelizaeus-Merzbacher disease |
| GARD:21075 |
Pelizaeus-Merzbacher disease in female carriers |
| GARD:21073 |
Pelizaeus-Merzbacher disease, classic form |
| GARD:17291 |
Pelizaeus-Merzbacher disease, connatal form |
| GARD:21074 |
Pelizaeus-Merzbacher disease, transitional form |
| GARD:12300 |
Pelizaeus-Merzbacher-like disease |
| GARD:4266 |
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation |
| GARD:17293 |
Pelizaeus-Merzbacher-like disease due to GJC2 mutation |
| GARD:17294 |
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation |
| GARD:10014 |
Pellagra |
| GARD:11895 |
Pellucid marginal degeneration |
| GARD:4269 |
Pelvic dysplasia-arthrogryposis of lower limbs syndrome |
| GARD:16611 |
Pelvis-shoulder dysplasia |
| GARD:1555 |
Pelviscapular dysplasia |
| GARD:6497 |
Pemphigoid gestationis |
| GARD:19022 |
Pemphigus erythematosus |
| GARD:7354 |
Pemphigus foliaceus |
| GARD:19021 |
Pemphigus vegetans |
| GARD:7355 |
Pemphigus vulgaris |
| GARD:4270 |
Pemphigus vulgaris, familial |
| GARD:4271 |
Pendred syndrome |
| GARD:4272 |
Penile agenesis |
| GARD:4273 |
Penoscrotal transposition |
| GARD:7359 |
Pentalogy of Cantrell |
| GARD:5678 |
Pentasomy X |
| GARD:418 |
Pentosuria |
| GARD:18278 |
Perching syndrome |
| GARD:18780 |
Pericardial and diaphragmatic defect |
| GARD:17191 |
Perinatal lethal hypophosphatasia |
| GARD:9258 |
Perineural cyst |
| GARD:12698 |
Perineurioma |
| GARD:19812 |
Periodic fever syndrome |
| GARD:21458 |
Periodic fever syndrome of childhood |
| GARD:17725 |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
| GARD:20374 |
Periodic paralysis |
| GARD:21634 |
Periodic paralysis with later-onset distal motor neuropathy |
| GARD:21635 |
Periodic paralysis with transient compartment-like syndrome |
| GARD:12474 |
Periodontal Ehlers-Danlos syndrome |
| GARD:19915 |
Perioral myoclonia with absences |
| GARD:22128 |
Peripapillary staphyloma |
| GARD:220 |
Peripartum cardiomyopathy |
| GARD:17004 |
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease |
| GARD:2015 |
Peripheral dysostosis |
| GARD:3791 |
Peripheral motor neuropathy-dysautonomia syndrome |
| GARD:20417 |
Peripheral neuropathy associated with monoclonal gammopathy |
| GARD:17639 |
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome |
| GARD:17601 |
Peripheral primitive neuroectodermal tumor |
| GARD:4589 |
Peripheral pulmonary stenosis |
| GARD:10777 |
Peritoneal cystic mesothelioma |
| GARD:22383 |
Perivascular epithelioid cell neoplasm |
| GARD:15424 |
Periventricular heterotopia with microcephaly, autosomal recessive |
| GARD:12724 |
Periventricular nodular heterotopia |
| GARD:7371 |
Periventricular nodular heterotopia 1 |
| GARD:15425 |
Periventricular nodular heterotopia 3 |
| GARD:15983 |
Periventricular nodular heterotopia 6 |
| GARD:16210 |
Periventricular nodular heterotopia 7 |
| GARD:16303 |
Periventricular nodular heterotopia 8 |
| GARD:16394 |
Periventricular nodular heterotopia 9 |
| GARD:19189 |
Perlecan-related bone disorder |
| GARD:3936 |
Perlman syndrome |
| GARD:20560 |
Permanent congenital hypothyroidism |
| GARD:16670 |
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
| GARD:4543 |
Peroxisomal acyl-CoA oxidase deficiency |
| GARD:12470 |
Peroxisomal beta-oxidation disorder |
| GARD:18885 |
Peroxisomal disease |
| GARD:20551 |
Peroxisomal disease with epilepsy |
| GARD:11890 |
Peroxisome biogenesis disorder |
| GARD:15873 |
Peroxisome biogenesis disorder 10a (zellweger) |
| GARD:15874 |
Peroxisome biogenesis disorder 11a (zellweger) |
| GARD:15875 |
Peroxisome biogenesis disorder 11b |
| GARD:15876 |
Peroxisome biogenesis disorder 12a (zellweger) |
| GARD:15877 |
Peroxisome biogenesis disorder 13a (zellweger) |
| GARD:15881 |
Peroxisome biogenesis disorder 14b |
| GARD:15149 |
Peroxisome biogenesis disorder 2a (zellweger) |
| GARD:15134 |
Peroxisome biogenesis disorder 2b |
| GARD:15858 |
Peroxisome biogenesis disorder 3a (zellweger) |
| GARD:15226 |
Peroxisome biogenesis disorder 3b |
| GARD:15859 |
Peroxisome biogenesis disorder 4a (zellweger) |
| GARD:15860 |
Peroxisome biogenesis disorder 4b |
| GARD:15861 |
Peroxisome biogenesis disorder 5a (zellweger) |
| GARD:15862 |
Peroxisome biogenesis disorder 5b |
| GARD:15864 |
Peroxisome biogenesis disorder 6a (zellweger) |
| GARD:15865 |
Peroxisome biogenesis disorder 6b |
| GARD:15866 |
Peroxisome biogenesis disorder 7a (zellweger) |
| GARD:15867 |
Peroxisome biogenesis disorder 7b |
| GARD:15869 |
Peroxisome biogenesis disorder 8a (zellweger) |
| GARD:15870 |
Peroxisome biogenesis disorder 8b |
| GARD:15871 |
Peroxisome biogenesis disorder 9b |
| GARD:2542 |
Perrault syndrome |
| GARD:15882 |
Perrault syndrome 2 |
| GARD:15760 |
Perrault syndrome 3 |
| GARD:15943 |
Perrault syndrome 4 |
| GARD:16062 |
Perrault syndrome 5 |
| GARD:16237 |
Perrault syndrome 6 |
| GARD:10453 |
Perry syndrome |
| GARD:8435 |
Persistent Müllerian duct syndrome |
| GARD:21628 |
Persistent combined dystonia |
| GARD:19661 |
Persistent eustachian valve |
| GARD:19636 |
Persistent fifth aortic arch |
| GARD:16803 |
Persistent hyperplastic primary vitreous |
| GARD:18168 |
Persistent hyperplastic primary vitreous, autosomal dominant |
| GARD:18167 |
Persistent hyperplastic primary vitreous, autosomal recessive |
| GARD:21649 |
Persistent idiopathic facial pain |
| GARD:19652 |
Persistent left superior vena cava connecting through coronary sinus to left-sided atrium |
| GARD:19654 |
Persistent left superior vena cava connecting to the roof of left-sided atrium |
| GARD:19369 |
Persistent placoid maculopathy |
| GARD:17366 |
Persistent polyclonal B-cell lymphocytosis |
| GARD:7377 |
Peters anomaly |
| GARD:8422 |
Peters plus syndrome |
| GARD:7378 |
Peutz-Jeghers syndrome |
| GARD:7380 |
Pfeiffer syndrome |
| GARD:16807 |
Pfeiffer syndrome type 1 |
| GARD:16808 |
Pfeiffer syndrome type 2 |
| GARD:16809 |
Pfeiffer syndrome type 3 |
| GARD:4305 |
Pfeiffer-Palm-Teller syndrome |
| GARD:20443 |
Phacoanaphylactic uveitis |
| GARD:19023 |
Phakomatosis cesioflammea |
| GARD:19024 |
Phakomatosis cesiomarmorata |
| GARD:4311 |
Phakomatosis pigmentokeratotica |
| GARD:4312 |
Phakomatosis pigmentovascularis |
| GARD:19025 |
Phakomatosis spilorosea |
| GARD:21524 |
Phalangeal microgeodic syndrome |
| GARD:20614 |
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome |
| GARD:4315 |
Phenobarbital embryopathy |
| GARD:7383 |
Phenylketonuria |
| GARD:15105 |
Pheochromocytoma |
| GARD:22315 |
Pheochromocytoma-paraganglioma |
| GARD:9212 |
Phocomelia, Schinzel type |
| GARD:4323 |
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome |
| GARD:16613 |
Phosphoenolpyruvate carboxykinase deficiency |
| GARD:4278 |
Phosphoenolpyruvate carboxykinase deficiency, cytosolic |
| GARD:4279 |
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial |
| GARD:4337 |
Phosphoribosylpyrophosphate synthetase superactivity |
| GARD:13273 |
Phosphoserine aminotransferase deficiency, infantile/juvenile form |
| GARD:15065 |
Photoparoxysmal response 1 |
| GARD:15463 |
Photoparoxysmal response 2 |
| GARD:15464 |
Photoparoxysmal response 3 |
| GARD:5648 |
Photosensitive epilepsy |
| GARD:9514 |
Phyllodes tumor of the breast |
| GARD:9404 |
Phyllodes tumor of the prostate |
| GARD:5133 |
Piebald trait-neurologic defects syndrome |
| GARD:4344 |
Piebaldism |
| GARD:17885 |
Pierpont syndrome |
| GARD:19896 |
Pierre Robin syndrome associated with a chromosomal anomaly |
| GARD:19898 |
Pierre Robin syndrome associated with bone disease |
| GARD:19897 |
Pierre Robin syndrome associated with branchial archs anomalies |
| GARD:19894 |
Pierre Robin syndrome associated with collagen disease |
| GARD:1274 |
Pierre Robin syndrome-faciodigital anomaly syndrome |
| GARD:10090 |
Pierre robin sequence with pectus excavatum and rib and scapular anomalies |
| GARD:9420 |
Pierson syndrome |
| GARD:16924 |
Pigeon-breeder lung disease |
| GARD:19003 |
Pigmentation anomaly of the skin |
| GARD:17776 |
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome |
| GARD:18620 |
Pigmented nodular adrenocortical disease, primary, 1 |
| GARD:15489 |
Pigmented nodular adrenocortical disease, primary, 2 |
| GARD:15769 |
Pigmented nodular adrenocortical disease, primary, 3 |
| GARD:16016 |
Pigmented nodular adrenocortical disease, primary, 4 |
| GARD:17208 |
Pigmented paravenous retinochoroidal atrophy |
| GARD:18703 |
Pili bifurcati |
| GARD:19026 |
Pili gemini |
| GARD:4361 |
Pili torti |
| GARD:4362 |
Pili torti-developmental delay-neurological abnormalities syndrome |
| GARD:4364 |
Pili torti-onychodysplasia syndrome |
| GARD:9808 |
Pilocytic astrocytoma |
| GARD:277 |
Pilodental dysplasia-refractive errors syndrome |
| GARD:22042 |
Pilomatrix carcinoma |
| GARD:9452 |
Pilomatrixoma |
| GARD:20710 |
Pilomyxoid astrocytoma |
| GARD:10644 |
Pineal parenchymal tumor of intermediate differenciation |
| GARD:20724 |
Pineal tumor of neuroepithelial tissue |
| GARD:9369 |
Pineoblastoma |
| GARD:8207 |
Pineocytoma |
| GARD:19999 |
Pinnae and external auditory canal anomaly |
| GARD:19974 |
Pinnae fistula or cyst |
| GARD:4372 |
Pitt-Hopkins syndrome |
| GARD:20711 |
Pituicytoma |
| GARD:19680 |
Pituitary adenoma |
| GARD:15274 |
Pituitary adenoma 2, growth hormone-secreting |
| GARD:19287 |
Pituitary apoplexy |
| GARD:9371 |
Pituitary carcinoma |
| GARD:19801 |
Pituitary deficiency |
| GARD:19160 |
Pituitary deficiency due to Rathke cleft cysts |
| GARD:19163 |
Pituitary deficiency due to empty sella turcica syndrome |
| GARD:19161 |
Pituitary dermoid and epidermoid cysts |
| GARD:6506 |
Pituitary gigantism |
| GARD:19280 |
Pituitary hormone deficiency of meningeal origin |
| GARD:19279 |
Pituitary hormone deficiency of tumoral origin |
| GARD:19286 |
Pituitary hormone deficiency of vascular origin |
| GARD:19288 |
Pituitary hormone deficiency secondary to a granulomatous disease |
| GARD:19289 |
Pituitary hormone deficiency secondary to storage disease |
| GARD:10601 |
Pituitary hormone deficiency, combined 1 |
| GARD:15222 |
Pituitary hormone deficiency, combined, 2 |
| GARD:16520 |
Pituitary hormone deficiency, combined, 6 |
| GARD:13209 |
Pituitary stalk interruption syndrome |
| GARD:21253 |
Pituitary tumor |
| GARD:7401 |
Pityriasis rubra pilaris |
| GARD:21823 |
Placental insufficiency |
| GARD:7403 |
Placental site trophoblastic tumor |
| GARD:18702 |
Plague |
| GARD:20034 |
Plaque-form urticaria pigmentosa |
| GARD:9373 |
Plasma cell leukemia |
| GARD:19440 |
Plasma cell tumor |
| GARD:12125 |
Plasmablastic lymphoma |
| GARD:13446 |
Plasmacytoma |
| GARD:21835 |
Plastic bronchitis |
| GARD:15329 |
Platelet disorder, familial, with associated myeloid malignancy |
| GARD:4382 |
Platyspondylic dysplasia, Torrance type |
| GARD:12542 |
Plectin-related limb-girdle muscular dystrophy R17 |
| GARD:19719 |
Pleomorphic liposarcoma |
| GARD:21165 |
Pleomorphic rhabdomyosarcoma |
| GARD:17789 |
Pleomorphic salivary gland adenoma |
| GARD:10631 |
Pleomorphic xanthoastrocytoma |
| GARD:21879 |
Pleural empyema |
| GARD:7026 |
Pleural mesothelioma |
| GARD:19668 |
Pleuro-pericardial cyst |
| GARD:8757 |
Pleuropulmonary blastoma |
| GARD:10734 |
Pleuropulmonary blastoma familial tumor susceptibility syndrome |
| GARD:19715 |
Pleuropulmonary blastoma type 1 |
| GARD:19716 |
Pleuropulmonary blastoma type 2 |
| GARD:19717 |
Pleuropulmonary blastoma type 3 |
| GARD:8259 |
Plummer-Vinson syndrome |
| GARD:18849 |
Pneumococcal meningitis |
| GARD:20245 |
Pneumoconiosis |
| GARD:4386 |
Pneumocystosis |
| GARD:13613 |
Pneumonia caused by Pseudomonas aeruginosa infection |
| GARD:4085 |
Poikiloderma with neutropenia |
| GARD:7412 |
Poland syndrome |
| GARD:7413 |
Poliomyelitis |
| GARD:7360 |
Polyarteritis nodosa |
| GARD:21729 |
Polyarticular juvenile idiopathic arthritis |
| GARD:21887 |
Polyclonal hyperviscosity syndrome |
| GARD:18597 |
Polycystic kidney disease 1 with or without polycystic liver disease |
| GARD:18599 |
Polycystic kidney disease 2 with or without polycystic liver disease |
| GARD:18598 |
Polycystic kidney disease 3 with or without polycystic liver disease |
| GARD:6168 |
Polycystic kidney disease 4 with or without polycystic liver disease |
| GARD:16242 |
Polycystic kidney disease 5 |
| GARD:16174 |
Polycystic liver disease 2 with or without kidney cysts |
| GARD:19466 |
Polycythemia |
| GARD:7422 |
Polycythemia vera |
| GARD:4417 |
Polydactyly of a biphalangeal thumb |
| GARD:5289 |
Polydactyly of a triphalangeal thumb |
| GARD:2256 |
Polydactyly of an index finger |
| GARD:4414 |
Polydactyly, postaxial, type a1 |
| GARD:18178 |
Polydactyly, postaxial, type a10 |
| GARD:18173 |
Polydactyly, postaxial, type a2 |
| GARD:18174 |
Polydactyly, postaxial, type a3 |
| GARD:18175 |
Polydactyly, postaxial, type a4 |
| GARD:18172 |
Polydactyly, postaxial, type a5 |
| GARD:18176 |
Polydactyly, postaxial, type a6 |
| GARD:16293 |
Polydactyly, postaxial, type a8 |
| GARD:18177 |
Polydactyly, postaxial, type a9 |
| GARD:4413 |
Polydactyly-myopia syndrome |
| GARD:9621 |
Polyembryoma |
| GARD:17787 |
Polyendocrine-polyneuropathy syndrome |
| GARD:19800 |
Polyendocrinopathy |
| GARD:17643 |
Polyglucosan body myopathy type 1 |
| GARD:17793 |
Polyglucosan body myopathy type 2 |
| GARD:12913 |
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome |
| GARD:20259 |
Polymalformative genetic syndrome with increased risk of developing cancer |
| GARD:17772 |
Polymerase proofreading-related adenomatous polyposis |
| GARD:18818 |
Polymicrogyria |
| GARD:17375 |
Polymicrogyria due to TUBB2B mutation |
| GARD:20687 |
Polymicrogyria with optic nerve hypoplasia |
| GARD:16009 |
Polymicrogyria, bilateral perisylvian, autosomal recessive |
| GARD:15256 |
Polymicrogyria, bilateral perisylvian, x-linked |
| GARD:4704 |
Polymyalgia rheumatica |
| GARD:7425 |
Polymyositis |
| GARD:13173 |
Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG |
| GARD:17071 |
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome |
| GARD:4424 |
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome |
| GARD:4213 |
Polyostotic fibrous dysplasia |
| GARD:19348 |
Polyploidy |
| GARD:18276 |
Polyposis syndrome, hereditary mixed, 2 |
| GARD:20411 |
Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies |
| GARD:19945 |
Polyrrhinia |
| GARD:20910 |
Polysomy of X chromosome |
| GARD:9903 |
Polysyndactyly |
| GARD:4428 |
Polysyndactyly-cardiac malformation syndrome |
| GARD:20594 |
Polyvalvular heart disease syndrome |
| GARD:13588 |
Pontiac fever |
| GARD:17855 |
Pontine autosomal dominant microangiopathy with leukoencephalopathy |
| GARD:10919 |
Pontine tegmental cap dysplasia |
| GARD:10704 |
Pontocerebellar hypoplasia type 1 |
| GARD:17680 |
Pontocerebellar hypoplasia type 10 |
| GARD:18029 |
Pontocerebellar hypoplasia type 11 |
| GARD:18030 |
Pontocerebellar hypoplasia type 12 |
| GARD:18031 |
Pontocerebellar hypoplasia type 13 |
| GARD:18032 |
Pontocerebellar hypoplasia type 14 |
| GARD:10705 |
Pontocerebellar hypoplasia type 2 |
| GARD:10708 |
Pontocerebellar hypoplasia type 3 |
| GARD:343 |
Pontocerebellar hypoplasia type 4 |
| GARD:10710 |
Pontocerebellar hypoplasia type 6 |
| GARD:17315 |
Pontocerebellar hypoplasia type 7 |
| GARD:17488 |
Pontocerebellar hypoplasia type 8 |
| GARD:17590 |
Pontocerebellar hypoplasia type 9 |
| GARD:18562 |
Pontocerebellar hypoplasia, type 14 |
| GARD:18563 |
Pontocerebellar hypoplasia, type 15 |
| GARD:15416 |
Pontocerebellar hypoplasia, type 1a |
| GARD:15834 |
Pontocerebellar hypoplasia, type 1b |
| GARD:16058 |
Pontocerebellar hypoplasia, type 1c |
| GARD:16289 |
Pontocerebellar hypoplasia, type 1d |
| GARD:16441 |
Pontocerebellar hypoplasia, type 1e |
| GARD:16442 |
Pontocerebellar hypoplasia, type 1f |
| GARD:15244 |
Pontocerebellar hypoplasia, type 2a |
| GARD:15553 |
Pontocerebellar hypoplasia, type 2b |
| GARD:15554 |
Pontocerebellar hypoplasia, type 2c |
| GARD:15717 |
Pontocerebellar hypoplasia, type 2d |
| GARD:18348 |
Pontocerebellar hypoplasia, type 2e |
| GARD:16178 |
Pontocerebellar hypoplasia, type 2f |
| GARD:20897 |
Poorly differentiated thymic neuroendocrine carcinoma |
| GARD:21189 |
Popliteal pterygium syndrome |
| GARD:7430 |
Porencephaly |
| GARD:4437 |
Porencephaly-cerebellar hypoplasia-internal malformations syndrome |
| GARD:17380 |
Porencephaly-microcephaly-bilateral congenital cataract syndrome |
| GARD:18989 |
Porokeratosis |
| GARD:15108 |
Porokeratosis 1, multiple types |
| GARD:9505 |
Porokeratosis 3, multiple types |
| GARD:9504 |
Porokeratosis 4, disseminated superficial actinic type |
| GARD:15551 |
Porokeratosis 5, disseminated superficial actinic type |
| GARD:15552 |
Porokeratosis 6, multiple types |
| GARD:15838 |
Porokeratosis 7, multiple types |
| GARD:16056 |
Porokeratosis 8, disseminated superficial actinic type |
| GARD:16146 |
Porokeratosis 9, multiple types |
| GARD:4438 |
Porokeratosis of Mibelli |
| GARD:16542 |
Porokeratosis plantaris palmaris et disseminata |
| GARD:20070 |
Porokeratotic eccrine ostial and dermal duct nevus |
| GARD:10353 |
Porphyria |
| GARD:7433 |
Porphyria cutanea tarda |
| GARD:16937 |
Porphyria due to ALA dehydratase deficiency |
| GARD:7848 |
Porphyria variegata |
| GARD:4014 |
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome |
| GARD:22393 |
Portosinusoidal vascular disease |
| GARD:9553 |
Post-transplant lymphoproliferative disease |
| GARD:19290 |
Post-traumatic pituitary deficiency |
| GARD:8410 |
Postaxial acrofacial dysostosis |
| GARD:16817 |
Postaxial polydactyly type A |
| GARD:16818 |
Postaxial polydactyly type B |
| GARD:13349 |
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| GARD:16614 |
Postaxial polydactyly-dental and vertebral anomalies syndrome |
| GARD:4065 |
Postaxial tetramelic oligodactyly |
| GARD:20898 |
Postcardiotomy right ventricular failure |
| GARD:19370 |
Postencephalitic parkinsonism |
| GARD:16880 |
Posterior amorphous corneal dystrophy |
| GARD:9898 |
Posterior column ataxia-retinitis pigmentosa syndrome |
| GARD:19520 |
Posterior corneal dystrophy |
| GARD:18846 |
Posterior cortical atrophy |
| GARD:19483 |
Posterior fossa malformation |
| GARD:2276 |
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome |
| GARD:20965 |
Posterior meningocele |
| GARD:16882 |
Posterior polymorphous corneal dystrophy |
| GARD:7439 |
Posterior urethral valve |
| GARD:4457 |
Posterior uveitis |
| GARD:18007 |
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome |
| GARD:21272 |
Postinfectious autoimmune disease with chorea |
| GARD:22502 |
Postinfectious cerebellitis |
| GARD:18835 |
Postinfectious vasculitis |
| GARD:17853 |
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome |
| GARD:10809 |
Postorgasmic illness syndrome |
| GARD:21853 |
Postpartum psychosis |
| GARD:4454 |
Postpoliomyelitis syndrome |
| GARD:15022 |
Postsynaptic congenital myasthenic syndromes |
| GARD:20051 |
Posttransplant acute limbic encephalitis |
| GARD:13591 |
Postural orthostatic tachycardia syndrome due to NET deficiency |
| GARD:4459 |
Potassium-aggravated myotonia |
| GARD:9762 |
Potocki-Shaffer syndrome |
| GARD:20510 |
Pouchitis |
| GARD:21632 |
PrP systemic amyloidosis |
| GARD:5575 |
Prader-Willi syndrome |
| GARD:17075 |
Prader-Willi syndrome due to imprinting mutation |
| GARD:16861 |
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 |
| GARD:19576 |
Prader-Willi syndrome due to paternal 15q11q13 deletion |
| GARD:20138 |
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 |
| GARD:20139 |
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 |
| GARD:17074 |
Prader-Willi syndrome due to translocation |
| GARD:21641 |
Prader-Willi-like syndrome |
| GARD:21168 |
Pre-Descemet corneal dystrophy |
| GARD:4304 |
Preaxial polydactyly-colobomata-intellectual disability syndrome |
| GARD:21807 |
Precocious puberty in female |
| GARD:16920 |
Precursor B-cell acute lymphoblastic leukemia |
| GARD:19694 |
Precursor T-cell acute lymphoblastic leukemia |
| GARD:17795 |
Predisposition to invasive fungal disease due to CARD9 deficiency |
| GARD:22318 |
Predisposition to severe viral infection due to IRF7 deficiency |
| GARD:19981 |
Predominantly large-vessel vasculitis |
| GARD:19982 |
Predominantly medium-vessel vasculitis |
| GARD:19983 |
Predominantly small-vessel vasculitis |
| GARD:12924 |
Preeclampsia |
| GARD:18389 |
Preeclampsia/eclampsia 1 |
| GARD:18390 |
Preeclampsia/eclampsia 2 |
| GARD:18391 |
Preeclampsia/eclampsia 3 |
| GARD:18392 |
Preeclampsia/eclampsia 4 |
| GARD:18393 |
Preeclampsia/eclampsia 5 |
| GARD:19017 |
Premature aging |
| GARD:19271 |
Premature closure of the arterial duct |
| GARD:18044 |
Premature ovarian failure 16 |
| GARD:20662 |
Prenatal benign hypophosphatasia |
| GARD:15225 |
Prenatal bowing |
| GARD:17882 |
Prenatal-onset spinal muscular atrophy with congenital bone fractures |
| GARD:22191 |
Prepubertal anorexia nervosa |
| GARD:19129 |
Pressure-induced localized lipoatrophy |
| GARD:15023 |
Presynaptic congenital myasthenic syndromes |
| GARD:17054 |
Primary CD59 deficiency |
| GARD:9118 |
Primary Fanconi renotubular syndrome |
| GARD:10252 |
Primary Sjögren syndrome |
| GARD:10898 |
Primary acquired pure red cell aplasia |
| GARD:19465 |
Primary acquired red cell aplasia |
| GARD:19802 |
Primary adrenal insufficiency |
| GARD:18709 |
Primary adult heart tumor |
| GARD:20584 |
Primary anetoderma |
| GARD:8703 |
Primary angiitis of the central nervous system |
| GARD:22147 |
Primary autoimmune enteropathy |
| GARD:21664 |
Primary avascular necrosis |
| GARD:1037 |
Primary basilar invagination |
| GARD:7459 |
Primary biliary cholangitis |
| GARD:22250 |
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome |
| GARD:21567 |
Primary bone dysplasia |
| GARD:19201 |
Primary bone dysplasia with decreased bone density |
| GARD:19202 |
Primary bone dysplasia with defective bone mineralization |
| GARD:19205 |
Primary bone dysplasia with disorganized development of skeletal components |
| GARD:19200 |
Primary bone dysplasia with increased bone density |
| GARD:21569 |
Primary bone dysplasia with micromelia |
| GARD:19198 |
Primary bone dysplasia with multiple joint dislocations |
| GARD:21568 |
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments |
| GARD:21385 |
Primary bone lymphoma |
| GARD:9318 |
Primary central nervous system lymphoma |
| GARD:4484 |
Primary ciliary dyskinesia |
| GARD:17190 |
Primary ciliary dyskinesia-retinitis pigmentosa syndrome |
| GARD:21966 |
Primary condylar hyperplasia |
| GARD:20561 |
Primary congenital hypothyroidism |
| GARD:19296 |
Primary congenital hypothyroidism without thyroid developmental anomaly |
| GARD:20165 |
Primary cutaneous B-cell lymphoma |
| GARD:18697 |
Primary cutaneous CD30+ T-cell lymphoproliferative disease |
| GARD:20156 |
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma |
| GARD:6226 |
Primary cutaneous T-cell lymphoma |
| GARD:20157 |
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma |
| GARD:132 |
Primary cutaneous amyloidosis |
| GARD:21247 |
Primary cutaneous anaplastic large cell lymphoma |
| GARD:20160 |
Primary cutaneous diffuse large B-cell lymphoma, leg type |
| GARD:13701 |
Primary cutaneous follicle center lymphoma |
| GARD:20158 |
Primary cutaneous gamma/delta-positive T-cell lymphoma |
| GARD:18698 |
Primary cutaneous lymphoma |
| GARD:20159 |
Primary cutaneous marginal zone B-cell lymphoma |
| GARD:19078 |
Primary cutaneous peripheral T-cell lymphoma not otherwise specified |
| GARD:21888 |
Primary cutaneous plasmacytosis |
| GARD:1643 |
Primary cutis verticis gyrata |
| GARD:22268 |
Primary desmosis coli |
| GARD:10537 |
Primary dystonia, DYT13 type |
| GARD:10536 |
Primary dystonia, DYT17 type |
| GARD:2028 |
Primary dystonia, DYT2 type |
| GARD:17383 |
Primary dystonia, DYT21 type |
| GARD:17819 |
Primary dystonia, DYT27 type |
| GARD:10138 |
Primary dystonia, DYT4 type |
| GARD:9630 |
Primary dystonia, DYT6 type |
| GARD:16490 |
Primary early-onset glaucoma |
| GARD:9247 |
Primary effusion lymphoma |
| GARD:21714 |
Primary eosinophilic gastrointestinal disease |
| GARD:6377 |
Primary erythromelalgia |
| GARD:21537 |
Primary essential cutis verticis gyrata |
| GARD:17692 |
Primary failure of tooth eruption |
| GARD:9843 |
Primary familial polycythemia |
| GARD:20732 |
Primary germ cell tumor of central nervous system |
| GARD:20025 |
Primary hemophagocytic lymphohistiocytosis |
| GARD:19760 |
Primary hepatic neuroendocrine carcinoma |
| GARD:17591 |
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome |
| GARD:21395 |
Primary hypereosinophilic syndrome |
| GARD:16588 |
Primary hypergonadotropic hypogonadism-partial alopecia syndrome |
| GARD:16530 |
Primary hyperoxaluria |
| GARD:2835 |
Primary hyperoxaluria type 1 |
| GARD:2836 |
Primary hyperoxaluria type 2 |
| GARD:10738 |
Primary hyperoxaluria type 3 |
| GARD:20667 |
Primary hypertrophic osteoarthropathy |
| GARD:21254 |
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis |
| GARD:3451 |
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement |
| GARD:2906 |
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement |
| GARD:13072 |
Primary hypomagnesemia with secondary hypocalcemia |
| GARD:22484 |
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome |
| GARD:22266 |
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome |
| GARD:19281 |
Primary hypophysitis |
| GARD:19813 |
Primary immunodeficiency |
| GARD:20168 |
Primary immunodeficiency due to a defect in adaptive immunity |
| GARD:19810 |
Primary immunodeficiency due to a defect in innate immunity |
| GARD:16783 |
Primary immunodeficiency syndrome due to LAMTOR2 deficiency |
| GARD:16695 |
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| GARD:17711 |
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| GARD:21795 |
Primary immunodeficiency with predisposition to severe viral infection |
| GARD:20935 |
Primary interstitial lung disease in childhood and adulthood |
| GARD:20936 |
Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder |
| GARD:20937 |
Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder |
| GARD:20932 |
Primary interstitial lung disease specific to adulthood |
| GARD:10559 |
Primary interstitial lung disease specific to childhood |
| GARD:20922 |
Primary interstitial lung disease specific to childhood due to alveolar structure disorder |
| GARD:20923 |
Primary interstitial lung disease specific to childhood due to alveolar vascular disorder |
| GARD:19746 |
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies |
| GARD:7873 |
Primary intestinal lymphangiectasia |
| GARD:21974 |
Primary intrahepatic lithiasis |
| GARD:21909 |
Primary intralymphatic angioendothelioma |
| GARD:21063 |
Primary intraocular lymphoma |
| GARD:16961 |
Primary intraosseous venous malformation |
| GARD:19891 |
Primary laryngeal lymphangioma |
| GARD:10684 |
Primary lateral sclerosis |
| GARD:12596 |
Primary lipodystrophy |
| GARD:21387 |
Primary localized amyloidosis |
| GARD:18932 |
Primary lymphedema |
| GARD:22297 |
Primary lymphedema with systemic or visceral involvement |
| GARD:22296 |
Primary lymphedema without systemic or visceral involvement |
| GARD:21426 |
Primary lymphoma of the conjunctiva |
| GARD:20101 |
Primary malignant peritoneal tumor |
| GARD:19589 |
Primary mediastinal large B-cell lymphoma |
| GARD:20639 |
Primary megaureter, adult-onset form |
| GARD:20738 |
Primary melanocytic tumor of central nervous system |
| GARD:12016 |
Primary melanoma of the central nervous system |
| GARD:11982 |
Primary membranoproliferative glomerulonephritis |
| GARD:9180 |
Primary membranous glomerulonephritis |
| GARD:17381 |
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome |
| GARD:17620 |
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome |
| GARD:8618 |
Primary myelofibrosis |
| GARD:21275 |
Primary myoclonus |
| GARD:21538 |
Primary non-essential cutis verticis gyrata |
| GARD:21136 |
Primary non-gestational choriocarcinoma of ovary |
| GARD:21062 |
Primary oculocerebral lymphoma |
| GARD:21064 |
Primary organ-specific lymphoma |
| GARD:22141 |
Primary orthostatic disorder |
| GARD:12959 |
Primary orthostatic hypotension |
| GARD:8563 |
Primary orthostatic tremor |
| GARD:19204 |
Primary osteolysis |
| GARD:18710 |
Primary pediatric heart tumor |
| GARD:20103 |
Primary peritoneal carcinoma |
| GARD:21653 |
Primary peritoneal serous/papillary carcinoma |
| GARD:20100 |
Primary peritoneal tumor |
| GARD:10906 |
Primary pigmented nodular adrenocortical disease |
| GARD:19739 |
Primary plasmacytoma of the bone |
| GARD:21830 |
Primary polyarteritis nodosa |
| GARD:8541 |
Primary progressive aphasia |
| GARD:21377 |
Primary progressive apraxia of speech |
| GARD:18930 |
Primary progressive freezing gait |
| GARD:16591 |
Primary pulmonary hypoplasia |
| GARD:18770 |
Primary pulmonary lymphoma |
| GARD:21602 |
Primary qualitative or quantitative defects of alpha-dystroglycan |
| GARD:7552 |
Primary renal tubular acidosis |
| GARD:1280 |
Primary sclerosing cholangitis |
| GARD:21578 |
Primary short bowel syndrome |
| GARD:19691 |
Primary syringomyelia |
| GARD:17431 |
Primary systemic amyloidosis |
| GARD:4018 |
Primary tethered cord syndrome |
| GARD:20620 |
Primary unilateral adrenal hyperplasia |
| GARD:20496 |
Primitive neuroectodermal tumor of the cervix uteri |
| GARD:20478 |
Primitive neuroectodermal tumor of the corpus uteri |
| GARD:18707 |
Primitive portal vein thrombosis |
| GARD:19947 |
Proboscis lateralis |
| GARD:4494 |
Progeria-short stature-pigmented nevi syndrome |
| GARD:17371 |
Progeroid and marfanoid aspect-lipodystrophy syndrome |
| GARD:17722 |
Progeroid features-hepatocellular carcinoma predisposition syndrome |
| GARD:19906 |
Progeroid syndrome |
| GARD:4497 |
Progeroid syndrome, Petty type |
| GARD:17780 |
Progressive autosomal recessive ataxia-deafness syndrome |
| GARD:10123 |
Progressive bifocal chorioretinal atrophy |
| GARD:19918 |
Progressive cavitating leukoencephalopathy |
| GARD:17187 |
Progressive cerebello-cerebral atrophy |
| GARD:11897 |
Progressive cone dystrophy |
| GARD:5170 |
Progressive deafness with stapes fixation |
| GARD:22208 |
Progressive dementia with neuroserpin inclusion bodies |
| GARD:13110 |
Progressive encephalomyelitis with rigidity and myoclonus |
| GARD:10327 |
Progressive encephalopathy with leukodystrophy due to DECR deficiency |
| GARD:4010 |
Progressive epilepsy-intellectual disability syndrome, Finnish type |
| GARD:17798 |
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome |
| GARD:4503 |
Progressive external ophthalmoplegia |
| GARD:13174 |
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 |
| GARD:16498 |
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 |
| GARD:16499 |
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 |
| GARD:16500 |
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 |
| GARD:16501 |
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 |
| GARD:15215 |
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 |
| GARD:18450 |
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 |
| GARD:16183 |
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 |
| GARD:17517 |
Progressive external ophthalmoplegia-myopathy-emaciation syndrome |
| GARD:1093 |
Progressive familial heart block, type ia |
| GARD:2610 |
Progressive familial heart block, type ib |
| GARD:4879 |
Progressive familial heart block, type ii |
| GARD:15255 |
Progressive familial intrahepatic cholestasis |
| GARD:9802 |
Progressive familial intrahepatic cholestasis type 1 |
| GARD:1288 |
Progressive familial intrahepatic cholestasis type 2 |
| GARD:1289 |
Progressive familial intrahepatic cholestasis type 3 |
| GARD:9803 |
Progressive familial intrahepatic cholestasis type 4 |
| GARD:17867 |
Progressive familial intrahepatic cholestasis type 5 |
| GARD:7338 |
Progressive hemifacial atrophy |
| GARD:17858 |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| GARD:7468 |
Progressive multifocal leukoencephalopathy |
| GARD:21891 |
Progressive muscular atrophy |
| GARD:20360 |
Progressive muscular dystrophy |
| GARD:7140 |
Progressive myoclonic epilepsy |
| GARD:3876 |
Progressive myoclonic epilepsy type 1 |
| GARD:2167 |
Progressive myoclonic epilepsy type 3 |
| GARD:17671 |
Progressive myoclonic epilepsy type 5 |
| GARD:3872 |
Progressive myoclonic epilepsy type 6 |
| GARD:17715 |
Progressive myoclonic epilepsy type 7 |
| GARD:17706 |
Progressive myoclonic epilepsy type 8 |
| GARD:17801 |
Progressive myoclonic epilepsy type 9 |
| GARD:17522 |
Progressive myoclonic epilepsy with dystonia |
| GARD:22207 |
Progressive myoclonic epilepsy with neuroserpin inclusion bodies |
| GARD:20023 |
Progressive nodular histiocytosis |
| GARD:10793 |
Progressive non-fluent aphasia |
| GARD:18759 |
Progressive non-infectious anterior vertebral fusion |
| GARD:109 |
Progressive osseous heteroplasia |
| GARD:17123 |
Progressive polyneuropathy with bilateral striatal necrosis |
| GARD:9184 |
Progressive pseudorheumatoid arthropathy of childhood |
| GARD:17529 |
Progressive retinal dystrophy due to retinol transport defect |
| GARD:17779 |
Progressive scapulohumeroperoneal distal myopathy |
| GARD:17145 |
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome |
| GARD:17808 |
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome |
| GARD:7471 |
Progressive supranuclear palsy |
| GARD:20648 |
Progressive supranuclear palsy-corticobasal syndrome |
| GARD:17183 |
Progressive supranuclear palsy-parkinsonism syndrome |
| GARD:20649 |
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome |
| GARD:20647 |
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome |
| GARD:18639 |
Progressive symmetric erythrokeratodermia |
| GARD:4508 |
Prolactinoma |
| GARD:7473 |
Prolidase deficiency |
| GARD:4509 |
Proliferating trichilemmal cyst |
| GARD:144 |
Prominent glabella-microcephaly-hypogenitalism syndrome |
| GARD:4513 |
Properdin deficiency |
| GARD:467 |
Propionic acidemia |
| GARD:21991 |
Propylthiouracil embryofetopathy |
| GARD:15334 |
Prostate cancer, hereditary, 1 |
| GARD:15507 |
Prostate cancer, hereditary, 10 |
| GARD:15536 |
Prostate cancer, hereditary, 11 |
| GARD:15529 |
Prostate cancer, hereditary, 12 |
| GARD:15534 |
Prostate cancer, hereditary, 13 |
| GARD:15537 |
Prostate cancer, hereditary, 14 |
| GARD:15538 |
Prostate cancer, hereditary, 15 |
| GARD:15839 |
Prostate cancer, hereditary, 2 |
| GARD:15439 |
Prostate cancer, hereditary, 3 |
| GARD:15440 |
Prostate cancer, hereditary, 4 |
| GARD:15455 |
Prostate cancer, hereditary, 5 |
| GARD:15462 |
Prostate cancer, hereditary, 6 |
| GARD:15478 |
Prostate cancer, hereditary, 7 |
| GARD:15351 |
Prostate cancer, hereditary, 8 |
| GARD:15505 |
Prostate cancer, hereditary, 9 |
| GARD:15253 |
Prostate cancer, hereditary, x-linked 1 |
| GARD:15260 |
Prostate cancer, hereditary, x-linked 2 |
| GARD:15357 |
Prostate cancer/brain cancer susceptibility |
| GARD:13824 |
Proteasome-associated autoinflammatory syndrome |
| GARD:3916 |
Proteasome-associated autoinflammatory syndrome 1 |
| GARD:18447 |
Proteasome-associated autoinflammatory syndrome 2 |
| GARD:18446 |
Proteasome-associated autoinflammatory syndrome 3 |
| GARD:18449 |
Proteasome-associated autoinflammatory syndrome 4 |
| GARD:18448 |
Proteasome-associated autoinflammatory syndrome 5 |
| GARD:18799 |
Protein S acquired deficiency |
| GARD:15301 |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis |
| GARD:7475 |
Proteus syndrome |
| GARD:12801 |
Proteus-like syndrome |
| GARD:21735 |
Proton-pump inhibitor-responsive esophageal eosinophilia |
| GARD:20707 |
Protoplasmic astrocytoma |
| GARD:10740 |
Proximal 16p11.2 microdeletion syndrome |
| GARD:12388 |
Proximal 16p11.2 microduplication syndrome |
| GARD:9781 |
Proximal Xq28 duplication syndrome |
| GARD:12978 |
Proximal myopathy with extrapyramidal signs |
| GARD:17956 |
Proximal myopathy with focal depletion of mitochondria |
| GARD:9728 |
Proximal myotonic myopathy |
| GARD:16644 |
Proximal renal tubular acidosis |
| GARD:4531 |
Proximal spinal muscular atrophy |
| GARD:7883 |
Proximal spinal muscular atrophy type 1 |
| GARD:4945 |
Proximal spinal muscular atrophy type 2 |
| GARD:198 |
Proximal spinal muscular atrophy type 3 |
| GARD:564 |
Proximal spinal muscular atrophy type 4 |
| GARD:8182 |
Proximal symphalangism |
| GARD:7479 |
Prune belly syndrome |
| GARD:9635 |
Pruritic urticarial papules and plaques of pregnancy |
| GARD:21373 |
Pseudo-Meigs syndrome |
| GARD:8312 |
Pseudo-von Willebrand disease |
| GARD:4540 |
Pseudoachondroplasia |
| GARD:4544 |
Pseudoaminopterin syndrome |
| GARD:9463 |
Pseudodiastrophic dysplasia |
| GARD:21861 |
Pseudohypoaldosteronism |
| GARD:16545 |
Pseudohypoaldosteronism type 1 |
| GARD:4553 |
Pseudohypoaldosteronism type 2 |
| GARD:16775 |
Pseudohypoaldosteronism type 2A |
| GARD:16776 |
Pseudohypoaldosteronism type 2B |
| GARD:16777 |
Pseudohypoaldosteronism type 2C |
| GARD:17372 |
Pseudohypoaldosteronism type 2D |
| GARD:17373 |
Pseudohypoaldosteronism type 2E |
| GARD:10758 |
Pseudohypoparathyroidism |
| GARD:7486 |
Pseudohypoparathyroidism type 1A |
| GARD:10680 |
Pseudohypoparathyroidism type 1B |
| GARD:10681 |
Pseudohypoparathyroidism type 1C |
| GARD:10682 |
Pseudohypoparathyroidism type 2 |
| GARD:5770 |
Pseudohypoparathyroidism with Albright hereditary osteodystrophy |
| GARD:21900 |
Pseudohypoparathyroidism without Albright hereditary osteodystrophy |
| GARD:4259 |
Pseudoleprechaunism syndrome, Patterson type |
| GARD:7488 |
Pseudomyxoma peritonei |
| GARD:22114 |
Pseudopapilledema |
| GARD:4536 |
Pseudopelade of Brocq |
| GARD:415 |
Pseudoprogeria syndrome |
| GARD:7860 |
Pseudopseudohypoparathyroidism |
| GARD:19034 |
Pseudotyphus of California |
| GARD:20175 |
Pseudounicornuate uterus |
| GARD:9643 |
Pseudoxanthoma elasticum |
| GARD:10104 |
Pseudoxanthoma elasticum, forme fruste |
| GARD:20588 |
Pseudoxanthoma elasticum-like papillary dermal elastolysis |
| GARD:21820 |
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa |
| GARD:21089 |
Pseudoxanthomatous diffuse cutaneous mastocytosis |
| GARD:16059 |
Psoriasis 15, pustular, susceptibility to |
| GARD:10970 |
Psoriasis-related juvenile idiopathic arthritis |
| GARD:18914 |
Psychogenic movement disorders |
| GARD:17943 |
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome |
| GARD:2843 |
Pterin-4 alpha-carbinolamine dehydratase deficiency |
| GARD:4568 |
Pterygium colli-intellectual disability-digital anomalies syndrome |
| GARD:18162 |
Ptosis, hereditary congenital 1 |
| GARD:18163 |
Ptosis, hereditary congenital 2 |
| GARD:4577 |
Ptosis-strabismus-ectopic pupils syndrome |
| GARD:20593 |
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome |
| GARD:427 |
Ptosis-vocal cord paralysis syndrome |
| GARD:10713 |
Pudendal neuralgia |
| GARD:9119 |
Pulmonary agenesis |
| GARD:11894 |
Pulmonary alveolar microlithiasis |
| GARD:7501 |
Pulmonary arterial hypertension |
| GARD:21030 |
Pulmonary arterial hypertension associated with HIV infection |
| GARD:21027 |
Pulmonary arterial hypertension associated with another disease |
| GARD:21033 |
Pulmonary arterial hypertension associated with chronic hemolytic anemia |
| GARD:21029 |
Pulmonary arterial hypertension associated with congenital heart disease |
| GARD:21028 |
Pulmonary arterial hypertension associated with connective tissue disease |
| GARD:21031 |
Pulmonary arterial hypertension associated with portal hypertension |
| GARD:21032 |
Pulmonary arterial hypertension associated with schistosomiasis |
| GARD:4584 |
Pulmonary arteriovenous malformation |
| GARD:19619 |
Pulmonary artery coming from patent ductus arteriosus |
| GARD:19642 |
Pulmonary artery hypoplasia |
| GARD:19553 |
Pulmonary artery or pulmonary branch anomaly |
| GARD:4588 |
Pulmonary atresia with ventricular septal defect |
| GARD:4600 |
Pulmonary atresia-intact ventricular septum syndrome |
| GARD:18864 |
Pulmonary blastoma |
| GARD:15027 |
Pulmonary capillary hemangiomatosis |
| GARD:16098 |
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 |
| GARD:16097 |
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 |
| GARD:20449 |
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome |
| GARD:20512 |
Pulmonary fungal infections in patients deemed at risk |
| GARD:21034 |
Pulmonary hypertension owing to lung disease and/or hypoxia |
| GARD:21035 |
Pulmonary hypertension with unclear multifactorial mechanism |
| GARD:18394 |
Pulmonary hypertension, primary, 2 |
| GARD:20516 |
Pulmonary interstitial glycogenosis |
| GARD:16663 |
Pulmonary nodular lymphoid hyperplasia |
| GARD:12829 |
Pulmonary non-tuberculous mycobacterial infection |
| GARD:4597 |
Pulmonary valve agenesis |
| GARD:19618 |
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome |
| GARD:19780 |
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome |
| GARD:21801 |
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis |
| GARD:10153 |
Pulmonary venoocclusive disease |
| GARD:8527 |
Pulmonary venoocclusive disease 2, autosomal recessive |
| GARD:16884 |
Pulverulent cataract |
| GARD:4603 |
Punctate acrokeratoderma freckle-like pigmentation |
| GARD:7503 |
Punctate inner choroidopathy |
| GARD:21297 |
Punctate palmoplantar keratoderma |
| GARD:3103 |
Punctate palmoplantar keratoderma type 1 |
| GARD:4439 |
Punctate palmoplantar keratoderma type 2 |
| GARD:10428 |
Pure autonomic failure |
| GARD:16680 |
Pure hair and nail ectodermal dysplasia |
| GARD:19822 |
Pure hereditary spastic paraplegia |
| GARD:20768 |
Pure mitochondrial myopathy |
| GARD:21432 |
Pure or complex X-linked spastic paraplegia |
| GARD:21430 |
Pure or complex autosomal dominant spastic paraplegia |
| GARD:21431 |
Pure or complex autosomal recessive spastic paraplegia |
| GARD:21429 |
Pure or complex hereditary spastic paraplegia |
| GARD:4606 |
Purine nucleoside phosphorylase deficiency |
| GARD:22221 |
Pustular pyoderma gangrenosum |
| GARD:12820 |
Pustulosis palmaris et plantaris |
| GARD:4611 |
Pycnodysostosis |
| GARD:4610 |
Pyknoachondrogenesis |
| GARD:4612 |
Pyle disease |
| GARD:7510 |
Pyoderma gangrenosum |
| GARD:21139 |
Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome |
| GARD:9176 |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome |
| GARD:21454 |
Pyogenic autoinflammatory syndrome |
| GARD:21459 |
Pyogenic autoinflammatory syndrome of childhood |
| GARD:4614 |
Pyomyositis |
| GARD:469 |
Pyramidal molars-abnormal upper lip syndrome |
| GARD:10730 |
Pyridoxal phosphate-responsive seizures |
| GARD:9298 |
Pyridoxine-dependent epilepsy |
| GARD:7512 |
Pyruvate carboxylase deficiency |
| GARD:17538 |
Pyruvate carboxylase deficiency, benign type |
| GARD:17536 |
Pyruvate carboxylase deficiency, infantile type |
| GARD:17537 |
Pyruvate carboxylase deficiency, severe neonatal type |
| GARD:4620 |
Pyruvate dehydrogenase E1-alpha deficiency |
| GARD:17236 |
Pyruvate dehydrogenase E1-beta deficiency |
| GARD:16712 |
Pyruvate dehydrogenase E2 deficiency |
| GARD:3263 |
Pyruvate dehydrogenase E3 deficiency |
| GARD:17237 |
Pyruvate dehydrogenase E3-binding protein deficiency |
| GARD:7513 |
Pyruvate dehydrogenase deficiency |
| GARD:9888 |
Pyruvate dehydrogenase phosphatase deficiency |
| GARD:20752 |
Pyruvate metabolism disorder |
| GARD:7515 |
Q fever |
| GARD:18015 |
QRICH1-related intellectual disability-chondrodysplasia syndrome |
| GARD:18006 |
QRSL1-related combined oxidative phosphorylation defect |
| GARD:371 |
Qazi-Markouizos syndrome |
| GARD:22229 |
Quadricuspid aortic valve |
| GARD:20403 |
Qualitative or quantitative defects of FKRP |
| GARD:20400 |
Qualitative or quantitative defects of TRIM32 |
| GARD:21784 |
Qualitative or quantitative defects of Torsin-1A-interacting protein 1 |
| GARD:20432 |
Qualitative or quantitative defects of alpha-actin |
| GARD:21601 |
Qualitative or quantitative defects of alpha-dystroglycan |
| GARD:20390 |
Qualitative or quantitative defects of alpha-sarcoglycan |
| GARD:20427 |
Qualitative or quantitative defects of alphaB-cristallin |
| GARD:20434 |
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) |
| GARD:20391 |
Qualitative or quantitative defects of beta-sarcoglycan |
| GARD:20399 |
Qualitative or quantitative defects of calpain |
| GARD:20394 |
Qualitative or quantitative defects of caveolin-3 |
| GARD:20395 |
Qualitative or quantitative defects of collagen 6 |
| GARD:20393 |
Qualitative or quantitative defects of delta-sarcoglycan |
| GARD:20426 |
Qualitative or quantitative defects of desmin |
| GARD:2003 |
Qualitative or quantitative defects of dysferlin |
| GARD:2031 |
Qualitative or quantitative defects of dystrophin |
| GARD:20435 |
Qualitative or quantitative defects of emerin |
| GARD:20428 |
Qualitative or quantitative defects of filamin C |
| GARD:20404 |
Qualitative or quantitative defects of fukutin |
| GARD:20392 |
Qualitative or quantitative defects of gamma-sarcoglycan |
| GARD:20439 |
Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - |
| GARD:20397 |
Qualitative or quantitative defects of integrin alpha-7 |
| GARD:20425 |
Qualitative or quantitative defects of myofibrillar proteins |
| GARD:20401 |
Qualitative or quantitative defects of myotubularin |
| GARD:20433 |
Qualitative or quantitative defects of nebulin |
| GARD:20398 |
Qualitative or quantitative defects of perlecan |
| GARD:20437 |
Qualitative or quantitative defects of plectin |
| GARD:20421 |
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase |
| GARD:20423 |
Qualitative or quantitative defects of protein O-mannosyltransferase 1 |
| GARD:20424 |
Qualitative or quantitative defects of protein O-mannosyltransferase 2 |
| GARD:20438 |
Qualitative or quantitative defects of protein SERCA1 |
| GARD:20429 |
Qualitative or quantitative defects of protein ZASP |
| GARD:20422 |
Qualitative or quantitative defects of protein glycosyltransferase-like |
| GARD:20402 |
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan |
| GARD:20389 |
Qualitative or quantitative defects of sarcoglycan |
| GARD:20436 |
Qualitative or quantitative defects of selenoprotein N1 |
| GARD:20431 |
Qualitative or quantitative defects of telethonin |
| GARD:20430 |
Qualitative or quantitative defects of titin |
| GARD:21123 |
Qualitative or quantitative defects of tropomyosin |
| GARD:21122 |
Qualitative or quantitative defects of troponin |
| GARD:20388 |
Qualitative or quantitative protein defects in neuromuscular diseases |
| GARD:19808 |
Quantitative and/or qualitative congenital phagocyte defect |
| GARD:8345 |
Quebec platelet disorder |
| GARD:15583 |
Question mark ears, isolated |
| GARD:373 |
Quinquaud folliculitis decalvans |
| GARD:4637 |
RAPADILINO syndrome |
| GARD:17734 |
RARS-related autosomal recessive hypomyelinating leukodystrophy |
| GARD:17262 |
RAS-associated autoimmune leukoproliferative disease |
| GARD:22213 |
RASopathy |
| GARD:22210 |
RELA fusion-positive ependymoma |
| GARD:13461 |
REN-related autosomal dominant tubulointerstitial kidney disease |
| GARD:17902 |
RERE-related neurodevelopmental syndrome |
| GARD:12394 |
RFT1-CDG |
| GARD:18010 |
RFVT2-related riboflavin transporter deficiency |
| GARD:12861 |
RFVT3-related riboflavin transporter deficiency |
| GARD:9681 |
RHYNS syndrome |
| GARD:17701 |
RIDDLE syndrome |
| GARD:17120 |
RIN2 syndrome |
| GARD:17988 |
RNF13-related severe early-onset epileptic encephalopathy |
| GARD:7516 |
Rabies |
| GARD:226 |
Rabson-Mendenhall syndrome |
| GARD:18716 |
Radial deficiency-tibial hypoplasia syndrome |
| GARD:225 |
Radial hemimelia |
| GARD:258 |
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome |
| GARD:4627 |
Radial ray hypoplasia-choanal atresia syndrome |
| GARD:19099 |
Radiation myelitis |
| GARD:18900 |
Radiation proctitis |
| GARD:22139 |
Radiation-induced disorder |
| GARD:22137 |
Radiation-induced plexopathy |
| GARD:224 |
Radio-renal syndrome |
| GARD:21222 |
Radio-ulnar synostosis, bilateral |
| GARD:21221 |
Radio-ulnar synostosis, unilateral |
| GARD:16687 |
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome |
| GARD:18068 |
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 |
| GARD:18069 |
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 |
| GARD:1810 |
Radioulnar synostosis-developmental delay-hypotonia syndrome |
| GARD:394 |
Radioulnar synostosis-microcephaly-scoliosis syndrome |
| GARD:22550 |
Rafiq syndrome |
| GARD:18297 |
Rajab interstitial lung disease with brain calcifications 1 |
| GARD:18298 |
Rajab interstitial lung disease with brain calcifications 2 |
| GARD:7523 |
Ramon syndrome |
| GARD:4636 |
Ramos-Arroyo syndrome |
| GARD:7525 |
Ramsay Hunt syndrome |
| GARD:10407 |
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome |
| GARD:9628 |
Rapid-onset dystonia-parkinsonism |
| GARD:19958 |
Rapidly involuting congenital hemangioma |
| GARD:22534 |
Rare abdominal surgical disease |
| GARD:20058 |
Rare acquired aplastic anemia |
| GARD:20670 |
Rare acquired deficiency anemia |
| GARD:20236 |
Rare acquired hemolytic anemia |
| GARD:12773 |
Rare adenocarcinoma of the breast |
| GARD:19798 |
Rare adrenal disease |
| GARD:20136 |
Rare adult hypothyroidism |
| GARD:22530 |
Rare allergic disease |
| GARD:19398 |
Rare allergic respiratory disease |
| GARD:19869 |
Rare anemia |
| GARD:20464 |
Rare arteriovenous malformation |
| GARD:19816 |
Rare ataxia |
| GARD:19558 |
Rare atrial defect and interatrial communication |
| GARD:21754 |
Rare autonomic nervous system disorder |
| GARD:20044 |
Rare bacterial infectious disease |
| GARD:12775 |
Rare benign breast tumor |
| GARD:19363 |
Rare benign ovarian tumor |
| GARD:19791 |
Rare biliary tract disease |
| GARD:19901 |
Rare bone development disorder |
| GARD:22511 |
Rare bone disease |
| GARD:21575 |
Rare bone disease related to a common gene or pathway defect |
| GARD:18892 |
Rare bone tumor |
| GARD:22115 |
Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature |
| GARD:20192 |
Rare breast malformation |
| GARD:20205 |
Rare breast tumor |
| GARD:19794 |
Rare bronchopulmonary tumor |
| GARD:20486 |
Rare cancer of cervix uteri |
| GARD:20470 |
Rare cancer of corpus uteri |
| GARD:20461 |
Rare capillary malformation |
| GARD:21914 |
Rare capillary malformation with associated anomalies |
| GARD:20511 |
Rare carcinoma of pancreas |
| GARD:21763 |
Rare carcinoma of small intestine |
| GARD:21757 |
Rare carcinoma of stomach |
| GARD:22515 |
Rare cardiac disease |
| GARD:20536 |
Rare cardiac rhythm disease |
| GARD:20097 |
Rare cardiac tumor |
| GARD:20096 |
Rare cardiomyopathy |
| GARD:19232 |
Rare cause of hypertension |
| GARD:18911 |
Rare central nervous system and retinal vascular disease |
| GARD:19492 |
Rare cerebrovascular dementia |
| GARD:21270 |
Rare choreic movement disorder |
| GARD:22100 |
Rare choroidal disorder |
| GARD:18874 |
Rare chromosomal anomaly |
| GARD:22527 |
Rare circulatory system disease |
| GARD:19468 |
Rare coagulation disorder |
| GARD:21916 |
Rare combined vascular malformation |
| GARD:21948 |
Rare congenital anomaly of ventricular septum |
| GARD:19094 |
Rare congenital non-syndromic heart malformation |
| GARD:22086 |
Rare conjunctivitis |
| GARD:20318 |
Rare constitutional anemia |
| GARD:18889 |
Rare constitutional aplastic anemia |
| GARD:20235 |
Rare constitutional hemolytic anemia |
| GARD:19455 |
Rare constitutional hemolytic anemia due to a red cell membrane anomaly |
| GARD:19458 |
Rare constitutional hemolytic anemia due to an enzyme disorder |
| GARD:22087 |
Rare corneal disorder |
| GARD:20744 |
Rare cutaneous lichen planus |
| GARD:6225 |
Rare cutaneous lupus erythematosus |
| GARD:18880 |
Rare deafness |
| GARD:20668 |
Rare deficiency anemia |
| GARD:19096 |
Rare dementia |
| GARD:22513 |
Rare developmental defect during embryogenesis |
| GARD:19905 |
Rare developmental defect with connective tissue involvement |
| GARD:19904 |
Rare developmental defect with skin/mucosae involvement |
| GARD:19796 |
Rare diabetes mellitus |
| GARD:20215 |
Rare diabetes mellitus type 1 |
| GARD:20216 |
Rare diabetes mellitus type 2 |
| GARD:19403 |
Rare digestive tumor |
| GARD:19846 |
Rare disease involving intestinal motility |
| GARD:21388 |
Rare disease with Cushing syndrome as a major feature |
| GARD:19895 |
Rare disease with Pierre Robin syndrome |
| GARD:10248 |
Rare disease with autism |
| GARD:20095 |
Rare disease with dentinogenesis imperfecta |
| GARD:19524 |
Rare disease with glaucoma as a major feature |
| GARD:21937 |
Rare disease with malignant hyperthermia |
| GARD:21276 |
Rare disease with myoclonus as a major feature |
| GARD:19388 |
Rare disease with odontological manifestation |
| GARD:21130 |
Rare disease with thoracic aortic aneurysm and aortic dissection |
| GARD:22451 |
Rare disorder due to inadequate sharing of the placenta |
| GARD:22245 |
Rare disorder due to poisoning |
| GARD:22533 |
Rare disorder due to toxic effects |
| GARD:22450 |
Rare disorder due to unbalanced inter-twin blood transfusion |
| GARD:22110 |
Rare disorder involving multiple structures of the eye |
| GARD:22088 |
Rare disorder of the anterior segment of the eye |
| GARD:19509 |
Rare disorder of the lacrimal apparatus |
| GARD:22079 |
Rare disorder of the ocular adnexa |
| GARD:22101 |
Rare disorder of the posterior segment of the eye |
| GARD:22089 |
Rare disorder of the pupil |
| GARD:22135 |
Rare disorder of the visual organs |
| GARD:22062 |
Rare disorder potentially indicated for bowel transplant |
| GARD:22065 |
Rare disorder potentially indicated for heart transplant |
| GARD:22063 |
Rare disorder potentially indicated for hematopoietic stem cell transplant |
| GARD:22061 |
Rare disorder potentially indicated for kidney transplant |
| GARD:22060 |
Rare disorder potentially indicated for liver transplant |
| GARD:22064 |
Rare disorder potentially indicated for lung transplant |
| GARD:22059 |
Rare disorder potentially indicated for transplant |
| GARD:22536 |
Rare disorder potentially indicated for transplant or complication after transplantation |
| GARD:22449 |
Rare disorder related to monochorionic twin pregnancy |
| GARD:20049 |
Rare disorder related with pregnancy, childbirth and puerperium |
| GARD:22248 |
Rare disorder with Hirschsprung disease as a major feature |
| GARD:21965 |
Rare disorder with a moyamoya angiopathy |
| GARD:19513 |
Rare disorder with conjunctival involvement as a major feature |
| GARD:22090 |
Rare disorder with corneal involvement as a major feature |
| GARD:21596 |
Rare disorder with dystonia and other neurologic or systemic manifestation |
| GARD:22080 |
Rare disorder with ectropion |
| GARD:22081 |
Rare disorder with entropion |
| GARD:21680 |
Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism |
| GARD:20233 |
Rare disorder with hypergonadotropic hypogonadism |
| GARD:18996 |
Rare disorder with hypertrichosis |
| GARD:19526 |
Rare disorder with lens opacification |
| GARD:20219 |
Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism |
| GARD:21677 |
Rare disorder with obstructive azoospermia |
| GARD:22117 |
Rare disorder with optic disc malformation |
| GARD:22094 |
Rare disorder with pigmented sclera |
| GARD:19507 |
Rare disorder with ptosis |
| GARD:19541 |
Rare disorder with strabismus |
| GARD:22444 |
Rare disorder without a determined diagnosis after full investigation |
| GARD:19797 |
Rare dyslipidemia |
| GARD:18882 |
Rare dystonia |
| GARD:22521 |
Rare endocrine disease |
| GARD:19146 |
Rare endocrine growth disease |
| GARD:19814 |
Rare epilepsy |
| GARD:21767 |
Rare epithelial tumor of colon |
| GARD:21775 |
Rare epithelial tumor of pancreas |
| GARD:21769 |
Rare epithelial tumor of rectum |
| GARD:21794 |
Rare epithelial tumor of small intestine |
| GARD:18857 |
Rare epithelial tumor of stomach |
| GARD:19795 |
Rare eye tumor |
| GARD:19508 |
Rare eyebrow/eyelash disorder |
| GARD:19501 |
Rare eyelid malposition disorder |
| GARD:19686 |
Rare familial disorder with hypertrophic cardiomyopathy |
| GARD:19397 |
Rare female infertility |
| GARD:21679 |
Rare female infertility due to a congenital hypogonadotropic hypogonadism |
| GARD:21692 |
Rare female infertility due to adrenal disorder of genetic origin |
| GARD:21681 |
Rare female infertility due to an adrenal disorder |
| GARD:21682 |
Rare female infertility due to an anomaly of ovarian function |
| GARD:21693 |
Rare female infertility due to an anomaly of ovarian function of genetic origin |
| GARD:21684 |
Rare female infertility due to an implantation defect |
| GARD:21683 |
Rare female infertility due to gonadal dysgenesis |
| GARD:21678 |
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder |
| GARD:21691 |
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin |
| GARD:21718 |
Rare female infertility due to oocyte maturation defect |
| GARD:18704 |
Rare form of salmonellosis |
| GARD:22516 |
Rare gastroenterologic disease |
| GARD:19786 |
Rare gastroesophageal disease |
| GARD:20213 |
Rare gastroesophageal tumor |
| GARD:20316 |
Rare genetic adrenal disease |
| GARD:21802 |
Rare genetic autonomic nervous system disorder |
| GARD:21730 |
Rare genetic bone development disorder |
| GARD:20288 |
Rare genetic bone disease |
| GARD:22150 |
Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature |
| GARD:21921 |
Rare genetic capillary malformation |
| GARD:19399 |
Rare genetic cardiac disease |
| GARD:20010 |
Rare genetic cause of hypertension |
| GARD:22187 |
Rare genetic choroidal disorder |
| GARD:20319 |
Rare genetic coagulation disorder |
| GARD:22174 |
Rare genetic corneal disorder |
| GARD:19346 |
Rare genetic deafness |
| GARD:20290 |
Rare genetic developmental defect during embryogenesis |
| GARD:20312 |
Rare genetic diabetes mellitus |
| GARD:22531 |
Rare genetic disease |
| GARD:21288 |
Rare genetic disease with myoclonus as a major feature |
| GARD:22185 |
Rare genetic disorder involving multiple structures of the eye |
| GARD:22166 |
Rare genetic disorder of the anterior segment of the eye |
| GARD:22163 |
Rare genetic disorder of the lacrimal apparatus |
| GARD:22159 |
Rare genetic disorder of the ocular adnexa |
| GARD:22181 |
Rare genetic disorder of the posterior segment of the eye |
| GARD:22180 |
Rare genetic disorder of the pupil |
| GARD:22149 |
Rare genetic disorder of the visual organs |
| GARD:22168 |
Rare genetic disorder with conjunctival involvement as a major feature |
| GARD:22175 |
Rare genetic disorder with corneal involvement as a major feature |
| GARD:22162 |
Rare genetic disorder with entropion |
| GARD:22169 |
Rare genetic disorder with lens opacification |
| GARD:21689 |
Rare genetic disorder with obstructive azoospermia |
| GARD:22156 |
Rare genetic disorder with strabismus |
| GARD:21630 |
Rare genetic dystonia |
| GARD:20011 |
Rare genetic endocrine disease |
| GARD:20284 |
Rare genetic epilepsy |
| GARD:19782 |
Rare genetic eye disease |
| GARD:22161 |
Rare genetic eyelid malposition disorder |
| GARD:21690 |
Rare genetic female infertility |
| GARD:20059 |
Rare genetic gastroenterological disease |
| GARD:20323 |
Rare genetic gynecological and obstetrical diseases |
| GARD:20283 |
Rare genetic headache |
| GARD:20030 |
Rare genetic hematologic disease |
| GARD:20004 |
Rare genetic hepatic disease |
| GARD:22013 |
Rare genetic hyperkinetic movement disorder |
| GARD:20313 |
Rare genetic hypothalamic or pituitary disease |
| GARD:20327 |
Rare genetic immune disease |
| GARD:22179 |
Rare genetic inflammatory/autoimmune corneal disorder |
| GARD:20325 |
Rare genetic intellectual disability |
| GARD:22183 |
Rare genetic macular disorder |
| GARD:21685 |
Rare genetic male infertility |
| GARD:20285 |
Rare genetic medullar disease |
| GARD:20287 |
Rare genetic movement disorder |
| GARD:21287 |
Rare genetic myoclonus |
| GARD:18915 |
Rare genetic neurological disorder |
| GARD:22158 |
Rare genetic neuromuscular disorder with ocular motility/alignment anomaly |
| GARD:22489 |
Rare genetic nevus |
| GARD:22155 |
Rare genetic ocular motility/alignment disorder |
| GARD:21748 |
Rare genetic odontal or periodontal disorder |
| GARD:18936 |
Rare genetic odontologic disease |
| GARD:22151 |
Rare genetic ophthalmic disorder with cortical involvement |
| GARD:22152 |
Rare genetic ophthalmic disorder with cranial nerve involvement |
| GARD:22153 |
Rare genetic optic nerve disorder |
| GARD:22160 |
Rare genetic palpebral disorder |
| GARD:20315 |
Rare genetic parathyroid disease and phosphocalcic metabolism disorder |
| GARD:21283 |
Rare genetic parkinsonian disorder |
| GARD:19400 |
Rare genetic renal disease |
| GARD:20007 |
Rare genetic respiratory disease |
| GARD:22182 |
Rare genetic retinal disorder |
| GARD:22184 |
Rare genetic retinal vasculopathy |
| GARD:18877 |
Rare genetic skin disease |
| GARD:20326 |
Rare genetic syndromic intellectual disability |
| GARD:21018 |
Rare genetic systemic or rheumatologic disease |
| GARD:20314 |
Rare genetic thyroid disease |
| GARD:21286 |
Rare genetic tremor disorder |
| GARD:18875 |
Rare genetic tumor |
| GARD:20008 |
Rare genetic urogenital disease |
| GARD:20628 |
Rare genetic vascular disease |
| GARD:21923 |
Rare genetic vascular tumor |
| GARD:21924 |
Rare genetic venous malformation |
| GARD:22514 |
Rare gynecologic or obstetric disease |
| GARD:19407 |
Rare gynecological tumor |
| GARD:19972 |
Rare head and neck malformation |
| GARD:21163 |
Rare head and neck tumor |
| GARD:19387 |
Rare headache |
| GARD:22522 |
Rare hematologic disease |
| GARD:19454 |
Rare hemolytic anemia |
| GARD:20671 |
Rare hemorrhagic disorder |
| GARD:20672 |
Rare hemorrhagic disorder due to a coagulation factors defect |
| GARD:18873 |
Rare hemorrhagic disorder due to a constitutional coagulation factors defect |
| GARD:18905 |
Rare hemorrhagic disorder due to a constitutional platelet anomaly |
| GARD:21019 |
Rare hemorrhagic disorder due to a constitutional thrombocytopenia |
| GARD:20673 |
Rare hemorrhagic disorder due to a platelet anomaly |
| GARD:21020 |
Rare hemorrhagic disorder due to a qualitative platelet defect |
| GARD:20093 |
Rare hemorrhagic disorder due to an acquired coagulation factor defect |
| GARD:20675 |
Rare hemorrhagic disorder due to an acquired platelet anomaly |
| GARD:19792 |
Rare hepatic and biliary tract tumor |
| GARD:22506 |
Rare hepatic disease |
| GARD:20286 |
Rare hereditary ataxia |
| GARD:22459 |
Rare hereditary connective tissue disease |
| GARD:21662 |
Rare hereditary disease with avascular necrosis |
| GARD:12733 |
Rare hereditary disease with peripheral neuropathy |
| GARD:20540 |
Rare hereditary hemochromatosis |
| GARD:20382 |
Rare hereditary metabolic disease with peripheral neuropathy |
| GARD:20384 |
Rare hereditary neurologic disease with peripheral neuropathy |
| GARD:20383 |
Rare hereditary systemic disease with peripheral neuropathy |
| GARD:20515 |
Rare hereditary thrombophilia |
| GARD:21971 |
Rare hypercholesterolemia |
| GARD:22008 |
Rare hyperkinetic movement disorder |
| GARD:20229 |
Rare hyperlipidemia |
| GARD:19515 |
Rare hyperopia and astigmatism |
| GARD:20225 |
Rare hyperparathyroidism |
| GARD:20222 |
Rare hyperthyroidism |
| GARD:20518 |
Rare hypertrophic cardiomyopathy |
| GARD:20228 |
Rare hypoaldosteronism |
| GARD:20231 |
Rare hypolipidemia |
| GARD:20224 |
Rare hypoparathyroidism |
| GARD:20218 |
Rare hypothalamic or pituitary disease |
| GARD:20221 |
Rare hypothyroidism |
| GARD:21989 |
Rare idiopathic macular telangiectasia |
| GARD:22523 |
Rare immune disease |
| GARD:22508 |
Rare inborn errors of metabolism |
| GARD:22509 |
Rare infectious disease |
| GARD:22529 |
Rare infertility |
| GARD:19849 |
Rare inflammatory bowel disease |
| GARD:22091 |
Rare inflammatory/autoimmune corneal disorder |
| GARD:20214 |
Rare insulin-resistance syndrome |
| GARD:19090 |
Rare intellectual disability |
| GARD:19873 |
Rare intestinal disease |
| GARD:21258 |
Rare intoxication due to medical products |
| GARD:16859 |
Rare isolated myopia |
| GARD:19525 |
Rare lens disease |
| GARD:12344 |
Rare lichen planus |
| GARD:9789 |
Rare lymphatic malformation |
| GARD:20463 |
Rare lymphatic system anomaly |
| GARD:22102 |
Rare macular disorder |
| GARD:19396 |
Rare male infertility |
| GARD:21671 |
Rare male infertility due to adrenal disorder |
| GARD:21687 |
Rare male infertility due to adrenal disorder of genetic origin |
| GARD:21670 |
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder |
| GARD:21686 |
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin |
| GARD:21672 |
Rare male infertility due to testicular endocrine disorder |
| GARD:12772 |
Rare malignant breast tumor |
| GARD:21785 |
Rare malignant epithelial tumor of liver and intrahepatic biliary tract |
| GARD:22507 |
Rare maxillo-facial surgical disease |
| GARD:19790 |
Rare metabolic liver disease |
| GARD:19817 |
Rare movement disorder |
| GARD:20745 |
Rare mucosal lichen planus |
| GARD:20047 |
Rare mycosis |
| GARD:21274 |
Rare myoclonus |
| GARD:21235 |
Rare nail tumor |
| GARD:22535 |
Rare neoplastic disease |
| GARD:19406 |
Rare nervous system tumor |
| GARD:20240 |
Rare neurodegenerative disease |
| GARD:20239 |
Rare neuroinflammatory or neuroimmunological disease |
| GARD:22524 |
Rare neurologic disease |
| GARD:19389 |
Rare neurologic disease with psychiatric involvement |
| GARD:22118 |
Rare neuromuscular disorder with ocular motility/alignment anomaly |
| GARD:21176 |
Rare nevus |
| GARD:20624 |
Rare non surgically correctable form of primary aldosteronism |
| GARD:20198 |
Rare non-malformative breast disease |
| GARD:20197 |
Rare non-malformative gynecologic or obstetric disease |
| GARD:20207 |
Rare non-malformative uterine adnexal disease |
| GARD:20199 |
Rare non-malformative uterovaginal or vulvovaginal disease |
| GARD:19783 |
Rare non-syndromic intellectual disability |
| GARD:22122 |
Rare ocular motility/alignment disorder |
| GARD:19544 |
Rare oculomotor nerve disorder |
| GARD:20055 |
Rare odontal or periodontal disorder |
| GARD:21370 |
Rare odontogenic tumor |
| GARD:22526 |
Rare odontologic disease |
| GARD:22520 |
Rare ophthalmic disorder |
| GARD:22116 |
Rare ophthalmic disorder with cortical involvement |
| GARD:22119 |
Rare ophthalmic disorder with cranial nerve involvement |
| GARD:22120 |
Rare optic nerve disorder |
| GARD:22528 |
Rare otorhinolaryngologic disease |
| GARD:19405 |
Rare otorhinolaryngologic tumor |
| GARD:19350 |
Rare otorhinolaryngological malformation |
| GARD:19495 |
Rare palpebral disorder |
| GARD:19787 |
Rare pancreatic disease |
| GARD:20046 |
Rare parasitic disease |
| GARD:18893 |
Rare parathyroid disease and phosphocalcic metabolism anomaly |
| GARD:19764 |
Rare parathyroid tumor |
| GARD:19789 |
Rare parenchymal liver disease |
| GARD:18891 |
Rare parkinsonian disorder |
| GARD:21284 |
Rare parkinsonian syndrome due to genetic neurodegenerative disease |
| GARD:21263 |
Rare parkinsonian syndrome due to intoxication |
| GARD:21261 |
Rare parkinsonian syndrome due to neurodegenerative disease |
| GARD:21280 |
Rare paroxysmal movement disorder |
| GARD:21997 |
Rare pediatric rheumatologic disease |
| GARD:21082 |
Rare pediatric systemic disease |
| GARD:21081 |
Rare pediatric vasculitis |
| GARD:19476 |
Rare peripheral neuropathy |
| GARD:20141 |
Rare peripheral precocious puberty |
| GARD:20099 |
Rare pervasive developmental disorder |
| GARD:19018 |
Rare photodermatosis |
| GARD:7446 |
Rare precocious puberty |
| GARD:20227 |
Rare primary hyperaldosteronism |
| GARD:19793 |
Rare pulmonary disease |
| GARD:18904 |
Rare pulmonary hypertension |
| GARD:19514 |
Rare refraction anomaly |
| GARD:22512 |
Rare renal disease |
| GARD:19230 |
Rare renal tubular disease |
| GARD:19233 |
Rare renal tumor |
| GARD:22517 |
Rare respiratory disease |
| GARD:19404 |
Rare respiratory tumor |
| GARD:22103 |
Rare retinal disorder |
| GARD:22104 |
Rare retinal vasculopathy |
| GARD:20257 |
Rare rheumatologic disease |
| GARD:22095 |
Rare scleral disorder |
| GARD:22510 |
Rare skin disease |
| GARD:19014 |
Rare skin tumor or hamartoma |
| GARD:18879 |
Rare sleep disorder |
| GARD:18907 |
Rare soft tissue tumor |
| GARD:22519 |
Rare surgical cardiac disease |
| GARD:22518 |
Rare surgical thoracic disease |
| GARD:20623 |
Rare surgically correctable form of primary aldosteronism |
| GARD:20003 |
Rare syndrome with cardiac malformations |
| GARD:20232 |
Rare syndromic dyslipidemia |
| GARD:19834 |
Rare syndromic intellectual disability |
| GARD:22440 |
Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome |
| GARD:20255 |
Rare systemic disease |
| GARD:22525 |
Rare systemic or rheumatologic disease |
| GARD:21079 |
Rare systemic or rheumatological disease of childhood |
| GARD:22505 |
Rare teratologic disease |
| GARD:20237 |
Rare thrombotic disease of hematologic origin |
| GARD:20676 |
Rare thrombotic disorder due to a coagulation factors defect |
| GARD:20677 |
Rare thrombotic disorder due to a constitutional coagulation factors defect |
| GARD:20680 |
Rare thrombotic disorder due to a constitutional platelet anomaly |
| GARD:20679 |
Rare thrombotic disorder due to a platelet anomaly |
| GARD:20678 |
Rare thrombotic disorder due to an acquired coagulation factors defect |
| GARD:20681 |
Rare thrombotic disorder due to an acquired platelet anomaly |
| GARD:19799 |
Rare thyroid disease |
| GARD:30000 |
Rare to-be-classified GARD Diseases |
| GARD:21269 |
Rare tremor disorder |
| GARD:22121 |
Rare trochlear nerve disorder |
| GARD:19401 |
Rare tumor |
| GARD:21256 |
Rare tumor of gallbladder and extrahepatic biliary tract |
| GARD:19848 |
Rare tumor of intestine |
| GARD:21257 |
Rare tumor of liver and intrahepatic biliary tract |
| GARD:20703 |
Rare tumor of neuroepithelial tissue |
| GARD:9364 |
Rare tumor of pancreas |
| GARD:21042 |
Rare tumor of salivary glands |
| GARD:21760 |
Rare tumor of small intestine |
| GARD:19402 |
Rare urinary tract tumor |
| GARD:22532 |
Rare urogenital disease |
| GARD:20250 |
Rare urogenital tumor |
| GARD:19012 |
Rare urticaria |
| GARD:20201 |
Rare uterine adnexal tumor |
| GARD:20469 |
Rare uterine cancer |
| GARD:20188 |
Rare vaginal malformation |
| GARD:20471 |
Rare variants of adenocarcinoma of the corpus uteri |
| GARD:18881 |
Rare vascular disease |
| GARD:19788 |
Rare vascular liver disease |
| GARD:21917 |
Rare vascular malformation of major vessels |
| GARD:20458 |
Rare vascular tumor |
| GARD:20462 |
Rare venous malformation |
| GARD:20045 |
Rare viral disease |
| GARD:21145 |
Rare virus associated tumor |
| GARD:20208 |
Rare vulvovaginal tumor |
| GARD:18752 |
Rasmussen subacute encephalitis |
| GARD:9557 |
Rat-bite fever |
| GARD:3231 |
Ravine syndrome |
| GARD:5693 |
Reactive arthritis |
| GARD:17029 |
Reading seizures |
| GARD:7904 |
Recessive X-linked ichthyosis |
| GARD:16720 |
Recessive dystrophic epidermolysis bullosa inversa |
| GARD:21083 |
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome |
| GARD:19251 |
Recessive mitochondrial ataxia syndrome |
| GARD:9698 |
Recombinant 8 syndrome |
| GARD:20122 |
Rectal duplication |
| GARD:17055 |
Recurrent Neisseria infections due to factor D deficiency |
| GARD:19106 |
Recurrent hepatitis C virus induced liver disease in liver transplant recipients |
| GARD:22040 |
Recurrent idiopathic neuroretinitis |
| GARD:10778 |
Recurrent infection due to specific granule deficiency |
| GARD:17086 |
Recurrent infections associated with rare immunoglobulin isotypes deficiency |
| GARD:13423 |
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| GARD:111 |
Recurrent respiratory papillomatosis |
| GARD:12162 |
Reducing body myopathy |
| GARD:15261 |
Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset |
| GARD:15262 |
Reducing body myopathy, x-linked 1b, with late childhood or adult onset |
| GARD:18688 |
Reflex epilepsy |
| GARD:19585 |
Refractory anemia |
| GARD:19070 |
Refractory anemia with excess blasts |
| GARD:20108 |
Refractory anemia with excess blasts in transformation |
| GARD:19737 |
Refractory anemia with excess blasts type 1 |
| GARD:19738 |
Refractory anemia with excess blasts type 2 |
| GARD:21640 |
Refractory celiac disease |
| GARD:19069 |
Refractory cytopenia with multilineage dysplasia |
| GARD:5691 |
Refsum disease |
| GARD:19036 |
Regional odontodysplasia |
| GARD:20612 |
Regional variant of Guillain-Barré syndrome |
| GARD:17782 |
Regressive spondylometaphyseal dysplasia |
| GARD:9276 |
Reis-Bücklers corneal dystrophy |
| GARD:19726 |
Relapsing epidemic typhus |
| GARD:19171 |
Relapsing fever |
| GARD:7417 |
Relapsing polychondritis |
| GARD:9228 |
Renal agenesis |
| GARD:16579 |
Renal agenesis, bilateral |
| GARD:16804 |
Renal agenesis, unilateral |
| GARD:4655 |
Renal caliceal diverticuli-deafness syndrome |
| GARD:13215 |
Renal cell carcinoma |
| GARD:8417 |
Renal cell carcinoma 4 |
| GARD:18445 |
Renal cell carcinoma, xp11-associated |
| GARD:19986 |
Renal ciliopathy |
| GARD:4106 |
Renal coloboma syndrome |
| GARD:19530 |
Renal disease with cataract |
| GARD:19173 |
Renal dysplasia |
| GARD:19178 |
Renal dysplasia, bilateral |
| GARD:19177 |
Renal dysplasia, unilateral |
| GARD:19172 |
Renal hypoplasia |
| GARD:19374 |
Renal hypoplasia, bilateral |
| GARD:19373 |
Renal hypoplasia, unilateral |
| GARD:13175 |
Renal medullary carcinoma |
| GARD:11971 |
Renal nutcracker syndrome |
| GARD:19216 |
Renal or urinary tract malformation |
| GARD:9145 |
Renal pseudohypoaldosteronism type 1 |
| GARD:15228 |
Renal tubular acidosis iii |
| GARD:15229 |
Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss |
| GARD:15350 |
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss |
| GARD:379 |
Renal tubular dysgenesis |
| GARD:19377 |
Renal tubular dysgenesis due to twin-twin transfusion |
| GARD:16854 |
Renal tubular dysgenesis of genetic origin |
| GARD:17231 |
Renal tubulopathy-encephalopathy-liver failure syndrome |
| GARD:17356 |
Renal-hepatic-pancreatic dysplasia |
| GARD:18431 |
Renal-hepatic-pancreatic dysplasia 1 |
| GARD:18432 |
Renal-hepatic-pancreatic dysplasia 2 |
| GARD:16936 |
Renin-angiotensin-aldosterone system-blocker-induced angioedema |
| GARD:9509 |
Renpenning syndrome |
| GARD:22275 |
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha |
| GARD:18002 |
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
| GARD:16914 |
Resistance to thyrotropin-releasing hormone syndrome |
| GARD:18942 |
Respiratory bronchiolitis-interstitial lung disease syndrome |
| GARD:20249 |
Respiratory malformation |
| GARD:19395 |
Respiratory or mediastinal malformation |
| GARD:19385 |
Respiratory or thoracic malformation |
| GARD:20531 |
Restrictive cardiomyopathy |
| GARD:1516 |
Restrictive dermopathy |
| GARD:8625 |
Reticular dysgenesis |
| GARD:18239 |
Reticular dystrophy of retinal pigment epithelium |
| GARD:16891 |
Reticular dystrophy of the retinal pigment epithelium |
| GARD:19728 |
Reticular perineurioma |
| GARD:17079 |
Reticulate acropigmentation of Kitamura |
| GARD:21908 |
Retiform hemangioendothelioma |
| GARD:15109 |
Retinal aplasia |
| GARD:16693 |
Retinal arterial tortuosity |
| GARD:18908 |
Retinal capillary malformation |
| GARD:19987 |
Retinal ciliopathy |
| GARD:19993 |
Retinal ciliopathy due to mutation in Bardet-Biedl gene |
| GARD:19991 |
Retinal ciliopathy due to mutation in Usher gene |
| GARD:19992 |
Retinal ciliopathy due to mutation in nephronophthisis gene |
| GARD:19989 |
Retinal ciliopathy due to mutation in the RPGR gene |
| GARD:19990 |
Retinal ciliopathy due to mutation in the RPGRIP gene |
| GARD:19988 |
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene |
| GARD:3196 |
Retinal cone dystrophy 1 |
| GARD:10648 |
Retinal cone dystrophy 3a |
| GARD:10650 |
Retinal cone dystrophy 4 |
| GARD:395 |
Retinal degeneration-nanophthalmos-glaucoma syndrome |
| GARD:17640 |
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies |
| GARD:18241 |
Retinal dystrophy with or without extraocular anomalies |
| GARD:18240 |
Retinal dystrophy, reticular pigmentary, of posterior pole |
| GARD:17411 |
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome |
| GARD:4635 |
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome |
| GARD:17467 |
Retinal macular dystrophy type 2 |
| GARD:1217 |
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| GARD:5694 |
Retinitis pigmentosa |
| GARD:9149 |
Retinitis pigmentosa 1 |
| GARD:15110 |
Retinitis pigmentosa 10 |
| GARD:10383 |
Retinitis pigmentosa 11 |
| GARD:10376 |
Retinitis pigmentosa 12 |
| GARD:10388 |
Retinitis pigmentosa 13 |
| GARD:10385 |
Retinitis pigmentosa 14 |
| GARD:10387 |
Retinitis pigmentosa 17 |
| GARD:10392 |
Retinitis pigmentosa 18 |
| GARD:10398 |
Retinitis pigmentosa 19 |
| GARD:10380 |
Retinitis pigmentosa 2 |
| GARD:10404 |
Retinitis pigmentosa 20 |
| GARD:10393 |
Retinitis pigmentosa 22 |
| GARD:10391 |
Retinitis pigmentosa 23 |
| GARD:10389 |
Retinitis pigmentosa 24 |
| GARD:10384 |
Retinitis pigmentosa 25 |
| GARD:10397 |
Retinitis pigmentosa 26 |
| GARD:15700 |
Retinitis pigmentosa 27 |
| GARD:10394 |
Retinitis pigmentosa 28 |
| GARD:10378 |
Retinitis pigmentosa 29 |
| GARD:10381 |
Retinitis pigmentosa 3 |
| GARD:10401 |
Retinitis pigmentosa 30 |
| GARD:10396 |
Retinitis pigmentosa 31 |
| GARD:10395 |
Retinitis pigmentosa 32 |
| GARD:10400 |
Retinitis pigmentosa 33 |
| GARD:10390 |
Retinitis pigmentosa 34 |
| GARD:10402 |
Retinitis pigmentosa 35 |
| GARD:10403 |
Retinitis pigmentosa 36 |
| GARD:15508 |
Retinitis pigmentosa 37 |
| GARD:15725 |
Retinitis pigmentosa 38 |
| GARD:15715 |
Retinitis pigmentosa 39 |
| GARD:10405 |
Retinitis pigmentosa 4 |
| GARD:15709 |
Retinitis pigmentosa 40 |
| GARD:10379 |
Retinitis pigmentosa 41 |
| GARD:15593 |
Retinitis pigmentosa 42 |
| GARD:15716 |
Retinitis pigmentosa 43 |
| GARD:15705 |
Retinitis pigmentosa 44 |
| GARD:15704 |
Retinitis pigmentosa 45 |
| GARD:15571 |
Retinitis pigmentosa 46 |
| GARD:15702 |
Retinitis pigmentosa 47 |
| GARD:15720 |
Retinitis pigmentosa 48 |
| GARD:15701 |
Retinitis pigmentosa 49 |
| GARD:15629 |
Retinitis pigmentosa 50 |
| GARD:15665 |
Retinitis pigmentosa 51 |
| GARD:15662 |
Retinitis pigmentosa 54 |
| GARD:15677 |
Retinitis pigmentosa 55 |
| GARD:15678 |
Retinitis pigmentosa 56 |
| GARD:15679 |
Retinitis pigmentosa 57 |
| GARD:15682 |
Retinitis pigmentosa 58 |
| GARD:15724 |
Retinitis pigmentosa 59 |
| GARD:10377 |
Retinitis pigmentosa 6 |
| GARD:15738 |
Retinitis pigmentosa 60 |
| GARD:15766 |
Retinitis pigmentosa 61 |
| GARD:15767 |
Retinitis pigmentosa 62 |
| GARD:15810 |
Retinitis pigmentosa 63 |
| GARD:15923 |
Retinitis pigmentosa 66 |
| GARD:15988 |
Retinitis pigmentosa 67 |
| GARD:16004 |
Retinitis pigmentosa 68 |
| GARD:16011 |
Retinitis pigmentosa 69 |
| GARD:10386 |
Retinitis pigmentosa 7 |
| GARD:16032 |
Retinitis pigmentosa 70 |
| GARD:16101 |
Retinitis pigmentosa 71 |
| GARD:16119 |
Retinitis pigmentosa 72 |
| GARD:16135 |
Retinitis pigmentosa 73 |
| GARD:16138 |
Retinitis pigmentosa 74 |
| GARD:16176 |
Retinitis pigmentosa 75 |
| GARD:16196 |
Retinitis pigmentosa 76 |
| GARD:16221 |
Retinitis pigmentosa 77 |
| GARD:16229 |
Retinitis pigmentosa 78 |
| GARD:16231 |
Retinitis pigmentosa 79 |
| GARD:16252 |
Retinitis pigmentosa 80 |
| GARD:15965 |
Retinitis pigmentosa 82 with or without situs inversus |
| GARD:16298 |
Retinitis pigmentosa 83 |
| GARD:16311 |
Retinitis pigmentosa 84 |
| GARD:16342 |
Retinitis pigmentosa 85 |
| GARD:16368 |
Retinitis pigmentosa 86 |
| GARD:16374 |
Retinitis pigmentosa 87 with choroidal involvement |
| GARD:16385 |
Retinitis pigmentosa 88 |
| GARD:10382 |
Retinitis pigmentosa 9 |
| GARD:15230 |
Retinitis pigmentosa, late-adult onset |
| GARD:15310 |
Retinitis pigmentosa, y-linked |
| GARD:4684 |
Retinitis pigmentosa-deafness syndrome |
| GARD:17903 |
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |
| GARD:4683 |
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome |
| GARD:17730 |
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome |
| GARD:16655 |
Retinitis punctata albescens |
| GARD:7563 |
Retinoblastoma |
| GARD:5695 |
Retinopathy of prematurity |
| GARD:15231 |
Retinopathy, pericentral pigmentary, autosomal recessive |
| GARD:15111 |
Retinopathy, pericentral pigmentary, dominant |
| GARD:5696 |
Rett syndrome |
| GARD:15664 |
Rett syndrome, congenital variant |
| GARD:12768 |
Reversible cerebral vasoconstriction syndrome |
| GARD:4695 |
Revesz syndrome |
| GARD:7570 |
Reye syndrome |
| GARD:4697 |
Reynolds syndrome |
| GARD:12916 |
Rh deficiency syndrome |
| GARD:16275 |
Rh-null, amorph type |
| GARD:7572 |
Rhabdoid tumor |
| GARD:18318 |
Rhabdoid tumor predisposition syndrome 1 |
| GARD:18319 |
Rhabdoid tumor predisposition syndrome 2 |
| GARD:11951 |
Rhabdomyosarcoma |
| GARD:20494 |
Rhabdomyosarcoma of the cervix uteri |
| GARD:20475 |
Rhabdomyosarcoma of the corpus uteri |
| GARD:5699 |
Rheumatic fever |
| GARD:15232 |
Rheumatic fever-related antigen |
| GARD:3931 |
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis |
| GARD:19064 |
Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis |
| GARD:13160 |
Rhizomelic chondrodysplasia punctata |
| GARD:6049 |
Rhizomelic chondrodysplasia punctata type 1 |
| GARD:9429 |
Rhizomelic chondrodysplasia punctata type 2 |
| GARD:9682 |
Rhizomelic chondrodysplasia punctata type 3 |
| GARD:13320 |
Rhizomelic chondrodysplasia punctata type 5 |
| GARD:4703 |
Rhizomelic dysplasia, Patterson-Lowry type |
| GARD:4705 |
Rhizomelic syndrome, Urbach type |
| GARD:18855 |
Rhombencephalosynapsis |
| GARD:9993 |
Riboflavin transporter deficiency |
| GARD:17747 |
Ribose-5-P isomerase deficiency |
| GARD:8423 |
Richards-Rundle syndrome |
| GARD:4718 |
Richieri Costa-Pereira syndrome |
| GARD:4709 |
Richieri Costa-da Silva syndrome |
| GARD:22311 |
Ricin poisoning |
| GARD:19827 |
Rickettsial disease |
| GARD:19030 |
Rickettsialpox |
| GARD:16482 |
Rieger anomaly |
| GARD:21416 |
Rift valley fever |
| GARD:19640 |
Right aortic arch |
| GARD:19660 |
Right inferior vena cava connecting to left-sided atrium |
| GARD:6795 |
Right sided atrial isomerism |
| GARD:19653 |
Right superior vena cava connecting to left-sided atrium |
| GARD:4723 |
Rigid spine syndrome |
| GARD:21542 |
Ring chromosome |
| GARD:1320 |
Ring chromosome 1 syndrome |
| GARD:1322 |
Ring chromosome 10 syndrome |
| GARD:10846 |
Ring chromosome 11 syndrome |
| GARD:1325 |
Ring chromosome 12 syndrome |
| GARD:6069 |
Ring chromosome 13 syndrome |
| GARD:6072 |
Ring chromosome 14 syndrome |
| GARD:1328 |
Ring chromosome 15 syndrome |
| GARD:10855 |
Ring chromosome 16 syndrome |
| GARD:4724 |
Ring chromosome 17 syndrome |
| GARD:6077 |
Ring chromosome 18 syndrome |
| GARD:1333 |
Ring chromosome 19 syndrome |
| GARD:10837 |
Ring chromosome 2 syndrome |
| GARD:1334 |
Ring chromosome 20 syndrome |
| GARD:6083 |
Ring chromosome 21 syndrome |
| GARD:1336 |
Ring chromosome 22 syndrome |
| GARD:10839 |
Ring chromosome 3 syndrome |
| GARD:1339 |
Ring chromosome 4 syndrome |
| GARD:10841 |
Ring chromosome 5 syndrome |
| GARD:6095 |
Ring chromosome 6 syndrome |
| GARD:1345 |
Ring chromosome 7 syndrome |
| GARD:1347 |
Ring chromosome 8 syndrome |
| GARD:1348 |
Ring chromosome 9 syndrome |
| GARD:20785 |
Ring chromosome Y syndrome |
| GARD:9696 |
Ring dermoid of cornea |
| GARD:4359 |
Ringed hair disease |
| GARD:9164 |
Rippling muscle disease |
| GARD:9165 |
Rippling muscle disease 1 |
| GARD:20353 |
Rippling muscle disease with myasthenia gravis |
| GARD:15160 |
Ritscher-schinzel syndrome 1 |
| GARD:15278 |
Ritscher-schinzel syndrome 2 |
| GARD:16426 |
Ritscher-schinzel syndrome 3 |
| GARD:7387 |
Roberts syndrome |
| GARD:4729 |
Robin sequence-oligodactyly syndrome |
| GARD:312 |
Robinow syndrome |
| GARD:2013 |
Robinow syndrome, autosomal dominant 1 |
| GARD:18548 |
Robinow syndrome, autosomal dominant 2 |
| GARD:18549 |
Robinow syndrome, autosomal dominant 3 |
| GARD:4730 |
Robinow-sorauf syndrome |
| GARD:4733 |
Roch-Leri mesosomatous lipomatosis |
| GARD:7585 |
Rocky Mountain spotted fever |
| GARD:9163 |
Roifman syndrome |
| GARD:10287 |
Rolandic epilepsy |
| GARD:18282 |
Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked |
| GARD:17003 |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome |
| GARD:17002 |
Rolandic epilepsy-speech dyspraxia syndrome |
| GARD:3284 |
Romano-Ward syndrome |
| GARD:4738 |
Rombo syndrome |
| GARD:7588 |
Rosaï-Dorfman disease |
| GARD:13593 |
Rosette-forming glioneuronal tumor |
| GARD:4392 |
Rothmund-Thomson syndrome |
| GARD:17134 |
Rothmund-Thomson syndrome type 1 |
| GARD:17135 |
Rothmund-Thomson syndrome type 2 |
| GARD:218 |
Rotor syndrome |
| GARD:4741 |
Roussy-Lévy syndrome |
| GARD:19043 |
Rubella panencephalitis |
| GARD:7593 |
Rubinstein-Taybi syndrome |
| GARD:10754 |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion |
| GARD:17534 |
Rubinstein-Taybi syndrome due to CREBBP mutations |
| GARD:17535 |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| GARD:4748 |
Ruvalcaba syndrome |
| GARD:13177 |
S-adenosylhomocysteine hydrolase deficiency |
| GARD:22463 |
SAMD9L-associated autoinflammatory syndrome |
| GARD:7606 |
SAPHO syndrome |
| GARD:22326 |
SATB2-associated syndrome |
| GARD:17204 |
SATB2-associated syndrome due to a chromosomal rearrangement |
| GARD:18013 |
SATB2-associated syndrome due to a pathogenic variant |
| GARD:22491 |
SBDS-related severe neonatal spondylometaphyseal dysplasia |
| GARD:21592 |
SCALP syndrome |
| GARD:247 |
SCARF syndrome |
| GARD:10302 |
SERKAL syndrome |
| GARD:22397 |
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome |
| GARD:7633 |
SHORT syndrome |
| GARD:17434 |
SHOX-related short stature |
| GARD:21642 |
SIM1-related Prader-Willi-like syndrome |
| GARD:17925 |
SIN3A-related intellectual disability syndrome due to a point mutation |
| GARD:22001 |
SIX2-related frontonasal dysplasia |
| GARD:12409 |
SLC35A1-CDG |
| GARD:12403 |
SLC35A2-CDG |
| GARD:12610 |
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome |
| GARD:17846 |
SLC39A8-CDG |
| GARD:21943 |
SMARCA4-deficient sarcoma of thorax |
| GARD:957 |
SPECC1L-related hypertelorism syndrome |
| GARD:4970 |
SPONASTRIME dysplasia |
| GARD:12397 |
SRD5A3-CDG |
| GARD:12405 |
SSR4-CDG |
| GARD:17935 |
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome |
| GARD:17737 |
STAT3-related early-onset multisystem autoimmune disease |
| GARD:15006 |
STAT5 Haploinsuffciency |
| GARD:12357 |
STING-associated vasculopathy with onset in infancy |
| GARD:17602 |
STT3A-CDG |
| GARD:17603 |
STT3B-CDG |
| GARD:22404 |
STXBP1-related encephalopathy |
| GARD:9257 |
SUNCT syndrome |
| GARD:17616 |
SURF1-related Charcot-Marie-Tooth disease type 4 |
| GARD:22232 |
SYNGAP1-related developmental and epileptic encephalopathy |
| GARD:314 |
Saccharopinuria |
| GARD:17642 |
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome |
| GARD:319 |
Sacrococcygeal teratoma |
| GARD:7598 |
Saethre-Chotzen syndrome |
| GARD:21233 |
Sagliker syndrome |
| GARD:8600 |
Saldino-Mainzer syndrome |
| GARD:12774 |
Salivary gland type cancer of the breast |
| GARD:4754 |
Salla disease |
| GARD:2521 |
Sandhoff disease |
| GARD:17405 |
Sandhoff disease, adult form |
| GARD:7604 |
Sandhoff disease, infantile form |
| GARD:17404 |
Sandhoff disease, juvenile form |
| GARD:9684 |
Sandifer syndrome |
| GARD:7071 |
Sanfilippo syndrome type A |
| GARD:7072 |
Sanfilippo syndrome type B |
| GARD:7073 |
Sanfilippo syndrome type C |
| GARD:7074 |
Sanfilippo syndrome type D |
| GARD:411 |
Sanjad-Sakati syndrome |
| GARD:18848 |
Sarcocystosis |
| GARD:7607 |
Sarcoidosis |
| GARD:18594 |
Sarcoidosis, susceptibility to, 1 |
| GARD:18595 |
Sarcoidosis, susceptibility to, 2 |
| GARD:18596 |
Sarcoidosis, susceptibility to, 3 |
| GARD:20493 |
Sarcoma of cervix uteri |
| GARD:20476 |
Sarcoma of the corpus uteri |
| GARD:158 |
Sarcosinemia |
| GARD:160 |
Satoyoshi syndrome |
| GARD:239 |
Say-Barber-Miller syndrome |
| GARD:241 |
Scalp defects-postaxial polydactyly syndrome |
| GARD:159 |
Scalp-ear-nipple syndrome |
| GARD:10314 |
Scapuloperoneal spinal muscular atrophy |
| GARD:19121 |
Scarring in glaucoma filtration surgical procedures |
| GARD:21880 |
Scedosporiosis |
| GARD:12561 |
Scheie syndrome |
| GARD:2930 |
Schilbach-Rott syndrome |
| GARD:16661 |
Schilder disease |
| GARD:4984 |
Schimke immuno-osseous dysplasia |
| GARD:117 |
Schinzel-Giedion syndrome |
| GARD:246 |
Schisis association |
| GARD:15112 |
Schistosoma mansoni infection, susceptibility/resistance to |
| GARD:9687 |
Schistosomiasis |
| GARD:166 |
Schizencephaly |
| GARD:169 |
Schneckenbecken dysplasia |
| GARD:12390 |
Schnitzler syndrome |
| GARD:9277 |
Schnyder corneal dystrophy |
| GARD:4768 |
Schwannomatosis |
| GARD:16000 |
Schwannomatosis 2 |
| GARD:250 |
Schwartz-Jampel syndrome |
| GARD:16649 |
Schöpf-Schulz-Passarge syndrome |
| GARD:18680 |
Scimitar syndrome |
| GARD:5975 |
Scleredema |
| GARD:18705 |
Scleroderma |
| GARD:7615 |
Scleromyxedema |
| GARD:19144 |
Scleromyxedema without monoclonal gammopathy |
| GARD:21868 |
Sclerosing cholangitis |
| GARD:19729 |
Sclerosing perineurioma |
| GARD:4771 |
Sclerosteosis |
| GARD:15233 |
Sclerosteosis 1 |
| GARD:15786 |
Sclerosteosis 2 |
| GARD:21939 |
Scorpion envenomation |
| GARD:4777 |
Scott syndrome |
| GARD:19035 |
Scrub typhus |
| GARD:8241 |
Sea-blue histiocytosis |
| GARD:19002 |
Sebaceous gland anomaly |
| GARD:5003 |
Sebocystomatosis |
| GARD:17039 |
Seborrhea-like dermatitis with psoriasiform elements |
| GARD:8562 |
Seckel syndrome |
| GARD:15143 |
Seckel syndrome 1 |
| GARD:18484 |
Seckel syndrome 10 |
| GARD:15399 |
Seckel syndrome 2 |
| GARD:15687 |
Seckel syndrome 4 |
| GARD:15719 |
Seckel syndrome 5 |
| GARD:16013 |
Seckel syndrome 8 |
| GARD:16158 |
Seckel syndrome 9 |
| GARD:16968 |
Second branchial cleft anomaly |
| GARD:21659 |
Secondary avascular necrosis |
| GARD:20120 |
Secondary central precocious puberty |
| GARD:22111 |
Secondary early-onset glaucoma |
| GARD:22186 |
Secondary early-onset glaucoma of genetic origin |
| GARD:19503 |
Secondary ectropion |
| GARD:22201 |
Secondary erythromelalgia |
| GARD:20026 |
Secondary hemophagocytic lymphohistiocytosis |
| GARD:21396 |
Secondary hypereosinophilic syndrome |
| GARD:19922 |
Secondary hypoparathyroidism due to impaired parathormon secretion |
| GARD:20938 |
Secondary interstitial lung disease in childhood and adulthood |
| GARD:20247 |
Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease |
| GARD:20940 |
Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease |
| GARD:20939 |
Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease |
| GARD:20941 |
Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis |
| GARD:20933 |
Secondary interstitial lung disease specific to adulthood associated with a systemic disease |
| GARD:20927 |
Secondary interstitial lung disease specific to childhood associated with a connective tissue disease |
| GARD:20929 |
Secondary interstitial lung disease specific to childhood associated with a granulomatous disease |
| GARD:20930 |
Secondary interstitial lung disease specific to childhood associated with a metabolic disease |
| GARD:20926 |
Secondary interstitial lung disease specific to childhood associated with a systemic disease |
| GARD:20928 |
Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis |
| GARD:19135 |
Secondary intestinal lymphangiectasia |
| GARD:21643 |
Secondary neonatal autoimmune disease |
| GARD:21661 |
Secondary non-traumatic avascular necrosis |
| GARD:21831 |
Secondary polyarteritis nodosa |
| GARD:19467 |
Secondary polycythemia |
| GARD:21744 |
Secondary pulmonary alveolar proteinosis |
| GARD:19713 |
Secondary pulmonary hemosiderosis |
| GARD:21869 |
Secondary sclerosing cholangitis |
| GARD:19258 |
Secondary short bowel syndrome |
| GARD:19692 |
Secondary syringomyelia |
| GARD:21863 |
Secondary vasculitis |
| GARD:18872 |
Segmental odontomaxillary dysplasia |
| GARD:19881 |
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome |
| GARD:21384 |
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia |
| GARD:856 |
Seizures, benign familial infantile, 1 |
| GARD:16504 |
Seizures, benign familial infantile, 2 |
| GARD:16521 |
Seizures, benign familial infantile, 3 |
| GARD:16505 |
Seizures, benign familial infantile, 4 |
| GARD:16506 |
Seizures, benign familial infantile, 5 |
| GARD:15054 |
Seizures, benign familial neonatal, 2 |
| GARD:15427 |
Seizures, benign familial neonatal, 3 |
| GARD:15234 |
Seizures, benign familial neonatal, autosomal recessive |
| GARD:16709 |
Seizures-intellectual disability due to hydroxylysinuria syndrome |
| GARD:17836 |
Seizures-scoliosis-macrocephaly syndrome |
| GARD:12547 |
Selective IgM deficiency |
| GARD:22447 |
Selective intrauterine growth restriction |
| GARD:19141 |
Self-healing papular mucinosis |
| GARD:17303 |
Self-improving collodion baby |
| GARD:10010 |
Self-improving dystrophic epidermolysis bullosa |
| GARD:10792 |
Semantic dementia |
| GARD:21745 |
Semicircular canal dehiscence syndrome |
| GARD:17131 |
Semilobar holoprosencephaly |
| GARD:16730 |
Senior-Boichis syndrome |
| GARD:322 |
Senior-Loken syndrome |
| GARD:15405 |
Senior-loken syndrome 3 |
| GARD:15406 |
Senior-loken syndrome 4 |
| GARD:15451 |
Senior-loken syndrome 5 |
| GARD:15476 |
Senior-loken syndrome 6 |
| GARD:15681 |
Senior-loken syndrome 7 |
| GARD:16081 |
Senior-loken syndrome 8 |
| GARD:16145 |
Senior-loken syndrome 9 |
| GARD:17128 |
Sensorineural deafness with dilated cardiomyopathy |
| GARD:18869 |
Sensorineural hearing loss-early graying-essential tremor syndrome |
| GARD:9998 |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome |
| GARD:19105 |
Sepsis in premature infants |
| GARD:20180 |
Septate uterus |
| GARD:20189 |
Septate vagina |
| GARD:7627 |
Septo-optic dysplasia spectrum |
| GARD:16519 |
Septooptic dysplasia |
| GARD:17289 |
Septopreoptic holoprosencephaly |
| GARD:22334 |
Serine biosynthesis pathway deficiency, infantile/juvenile form |
| GARD:22258 |
Seromucinous cystadenoma of childhood |
| GARD:22253 |
Seronegative autoimmune hepatitis |
| GARD:18828 |
Serotonin syndrome |
| GARD:22055 |
Serotonin-producing neuroendocrine tumor of pancreas |
| GARD:20481 |
Serous carcinoma of the corpus uteri |
| GARD:21781 |
Serous cystadenocarcinoma of pancreas |
| GARD:22256 |
Serous cystadenoma of childhood |
| GARD:31 |
Serpiginous choroiditis |
| GARD:20683 |
Serpinopathy |
| GARD:20685 |
Serpinopathy with loss of serpin function |
| GARD:20684 |
Serpinopathy with toxic serpin polymerization |
| GARD:16982 |
Serrated polyposis syndrome |
| GARD:17437 |
Severe Canavan disease |
| GARD:5611 |
Severe X-linked intellectual disability, Gustavson type |
| GARD:17171 |
Severe X-linked mitochondrial encephalomyopathy |
| GARD:9443 |
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
| GARD:9237 |
Severe acute respiratory syndrome |
| GARD:17738 |
Severe autosomal recessive macrothrombocytopenia |
| GARD:7628 |
Severe combined immunodeficiency |
| GARD:17549 |
Severe combined immunodeficiency due to CARD11 deficiency |
| GARD:17144 |
Severe combined immunodeficiency due to CORO1A deficiency |
| GARD:17696 |
Severe combined immunodeficiency due to CTPS1 deficiency |
| GARD:9987 |
Severe combined immunodeficiency due to DCLRE1C deficiency |
| GARD:17441 |
Severe combined immunodeficiency due to DNA-PKcs deficiency |
| GARD:4358 |
Severe combined immunodeficiency due to FOXN1 deficiency |
| GARD:17641 |
Severe combined immunodeficiency due to IKK2 deficiency |
| GARD:17938 |
Severe combined immunodeficiency due to LAT deficiency |
| GARD:17288 |
Severe combined immunodeficiency due to LCK deficiency |
| GARD:5748 |
Severe combined immunodeficiency due to adenosine deaminase deficiency |
| GARD:10339 |
Severe combined immunodeficiency due to complete RAG1/2 deficiency |
| GARD:17364 |
Severe congenital hypochromic anemia with ringed sideroblasts |
| GARD:12821 |
Severe congenital nemaline myopathy |
| GARD:13592 |
Severe congenital neutropenia |
| GARD:17594 |
Severe dermatitis-multiple allergies-metabolic wasting syndrome |
| GARD:18811 |
Severe disseminated cytomegalovirus infection in immunocompetent patients |
| GARD:21565 |
Severe early-childhood-onset retinal dystrophy |
| GARD:19123 |
Severe early-onset axonal neuropathy due to MFN2 deficiency |
| GARD:21486 |
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency |
| GARD:17746 |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| GARD:2153 |
Severe generalized junctional epidermolysis bullosa |
| GARD:17895 |
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome |
| GARD:17059 |
Severe hemophilia A |
| GARD:17056 |
Severe hemophilia B |
| GARD:16544 |
Severe hereditary thrombophilia due to congenital protein C deficiency |
| GARD:16543 |
Severe hereditary thrombophilia due to congenital protein S deficiency |
| GARD:17840 |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome |
| GARD:8689 |
Severe immune-mediated enteropathy |
| GARD:10999 |
Severe intellectual disability and progressive spastic paraplegia |
| GARD:17824 |
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome |
| GARD:19247 |
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia |
| GARD:21817 |
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome |
| GARD:12815 |
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| GARD:13221 |
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome |
| GARD:3505 |
Severe intellectual disability-progressive spastic diplegia syndrome |
| GARD:17611 |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
| GARD:21436 |
Severe lateral tibial bowing with short stature |
| GARD:3482 |
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome |
| GARD:17592 |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
| GARD:17963 |
Severe myopia-generalized joint laxity-short stature syndrome |
| GARD:21383 |
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion |
| GARD:17629 |
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency |
| GARD:17103 |
Severe neonatal-onset encephalopathy with microcephaly |
| GARD:17552 |
Severe neurodegenerative syndrome with lipodystrophy |
| GARD:17930 |
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract |
| GARD:4050 |
Severe oculo-renal-cerebellar syndrome |
| GARD:17682 |
Severe phosphoribosylpyrophosphate synthetase superactivity |
| GARD:6447 |
Severe primary trimethylaminuria |
| GARD:21476 |
Sex chromosome disorder of sex development |
| GARD:21551 |
Sex cord-stromal tumor of testis |
| GARD:19426 |
Sex-chromosome anomaly |
| GARD:19427 |
Sex-chromosome number anomaly |
| GARD:19428 |
Sex-chromosome structural anomaly |
| GARD:7630 |
Sheehan syndrome |
| GARD:16556 |
Sheldon-Hall syndrome |
| GARD:6588 |
Shiga toxin-associated hemolytic uremic syndrome |
| GARD:4818 |
Shigellosis |
| GARD:19630 |
Shone complex |
| GARD:1502 |
Short bowel syndrome |
| GARD:4822 |
Short chain acyl-CoA dehydrogenase deficiency |
| GARD:18868 |
Short fifth metacarpals-insulin resistance syndrome |
| GARD:18633 |
Short qt syndrome 1 |
| GARD:18634 |
Short qt syndrome 2 |
| GARD:18635 |
Short qt syndrome 3 |
| GARD:18726 |
Short rib-polydactyly syndrome |
| GARD:17919 |
Short rib-polydactyly syndrome type 5 |
| GARD:4832 |
Short rib-polydactyly syndrome, Beemer-Langer type |
| GARD:4833 |
Short rib-polydactyly syndrome, Majewski type |
| GARD:4834 |
Short rib-polydactyly syndrome, Saldino-Noonan type |
| GARD:4835 |
Short rib-polydactyly syndrome, Verma-Naumoff type |
| GARD:17436 |
Short stature due to GHSR deficiency |
| GARD:408 |
Short stature due to growth hormone qualitative anomaly |
| GARD:16538 |
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia |
| GARD:17435 |
Short stature due to partial GHR deficiency |
| GARD:16964 |
Short stature due to primary acid-labile subunit deficiency |
| GARD:4838 |
Short stature, Brussels type |
| GARD:18483 |
Short stature, microcephaly, and endocrine dysfunction |
| GARD:17717 |
Short stature-advanced bone age-early-onset osteoarthritis syndrome |
| GARD:17633 |
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome |
| GARD:17817 |
Short stature-brachydactyly-obesity-global developmental delay syndrome |
| GARD:2605 |
Short stature-craniofacial anomalies-genital hypoplasia syndrome |
| GARD:4841 |
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome |
| GARD:17068 |
Short stature-delayed bone age due to thyroid hormone metabolism deficiency |
| GARD:17419 |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| GARD:10945 |
Short stature-optic atrophy-Pelger-Huët anomaly syndrome |
| GARD:10604 |
Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| GARD:22350 |
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome |
| GARD:16612 |
Short stature-valvular heart disease-characteristic facies syndrome |
| GARD:583 |
Short stature-webbed neck-heart disease syndrome |
| GARD:4856 |
Short stature-wormian bones-dextrocardia syndrome |
| GARD:296 |
Short tarsus-absence of lower eyelashes syndrome |
| GARD:17548 |
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome |
| GARD:2988 |
Short-limb skeletal dysplasia with severe combined immunodeficiency |
| GARD:15140 |
Short-rib thoracic dysplasia 1 with or without polydactyly |
| GARD:15993 |
Short-rib thoracic dysplasia 10 with or without polydactyly |
| GARD:15996 |
Short-rib thoracic dysplasia 11 with or without polydactyly |
| GARD:16079 |
Short-rib thoracic dysplasia 13 with or without polydactyly |
| GARD:18467 |
Short-rib thoracic dysplasia 14 with polydactyly |
| GARD:16185 |
Short-rib thoracic dysplasia 15 with polydactyly |
| GARD:16189 |
Short-rib thoracic dysplasia 16 with or without polydactyly |
| GARD:15511 |
Short-rib thoracic dysplasia 2 with or without polydactyly |
| GARD:15613 |
Short-rib thoracic dysplasia 3 with or without polydactyly |
| GARD:15718 |
Short-rib thoracic dysplasia 4 with or without polydactyly |
| GARD:15795 |
Short-rib thoracic dysplasia 5 with or without polydactyly |
| GARD:15224 |
Short-rib thoracic dysplasia 6 with or without polydactyly |
| GARD:15756 |
Short-rib thoracic dysplasia 7 with or without polydactyly |
| GARD:15975 |
Short-rib thoracic dysplasia 8 with or without polydactyly |
| GARD:15227 |
Short-rib thoracic dysplasia 9 with or without polydactyly |
| GARD:4861 |
Shprintzen-Goldberg syndrome |
| GARD:18511 |
Shukla-vernon syndrome |
| GARD:4863 |
Shwachman-Diamond syndrome |
| GARD:15221 |
Shwachman-diamond syndrome 1 |
| GARD:16272 |
Shwachman-diamond syndrome 2 |
| GARD:21331 |
Sialidosis |
| GARD:7639 |
Sialidosis type 1 |
| GARD:7183 |
Sialidosis type 2 |
| GARD:4865 |
Sialuria |
| GARD:18284 |
Sick sinus syndrome 2 |
| GARD:18285 |
Sick sinus syndrome 3, susceptibility to |
| GARD:8614 |
Sickle cell anemia |
| GARD:21024 |
Sickle cell disease and related diseases |
| GARD:12459 |
Sickle cell disease associated with another hemoglobin anomaly |
| GARD:10333 |
Sickle cell-beta-thalassemia disease syndrome |
| GARD:6584 |
Sickle cell-hemoglobin C disease syndrome |
| GARD:12458 |
Sickle cell-hemoglobin D disease syndrome |
| GARD:20700 |
Sickle cell-hemoglobin E disease syndrome |
| GARD:18714 |
Sideroblastic anemia |
| GARD:4867 |
Siegler-Brewer-Carey syndrome |
| GARD:21392 |
Silent pituitary adenoma |
| GARD:18910 |
Silent sinus syndrome |
| GARD:4869 |
Sillence syndrome |
| GARD:4870 |
Silver-Russell syndrome |
| GARD:20605 |
Silver-Russell syndrome due to 11p15 microduplication |
| GARD:20603 |
Silver-Russell syndrome due to 7p11.2p13 microduplication |
| GARD:17628 |
Silver-Russell syndrome due to a point mutation |
| GARD:20604 |
Silver-Russell syndrome due to an imprinting defect of 11p15 |
| GARD:20606 |
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 |
| GARD:19334 |
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 |
| GARD:18463 |
Silver-russell syndrome 3 |
| GARD:18464 |
Silver-russell syndrome 4 |
| GARD:18465 |
Silver-russell syndrome 5 |
| GARD:6217 |
Simple cryoglobulinemia |
| GARD:20460 |
Simple vascular malformation |
| GARD:7649 |
Simpson-Golabi-Behmel syndrome |
| GARD:19366 |
Sinding-Larsen-Johansson disease |
| GARD:21832 |
Single-organ polyarteritis nodosa |
| GARD:122 |
Singleton-Merten dysplasia |
| GARD:16078 |
Singleton-merten syndrome 2 |
| GARD:17484 |
Sinoatrial node dysfunction and deafness |
| GARD:4880 |
Sinus node disease and myopia |
| GARD:7652 |
Sirenomelia |
| GARD:7653 |
Sitosterolemia |
| GARD:16372 |
Sitosterolemia 2 |
| GARD:20013 |
Situs ambiguus |
| GARD:4883 |
Situs inversus totalis |
| GARD:7654 |
Sjögren-Larsson syndrome |
| GARD:6390 |
Skeletal Ewing sarcoma |
| GARD:22070 |
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome |
| GARD:350 |
Skeletal dysplasia-epilepsy-short stature syndrome |
| GARD:19471 |
Skeletal muscle disease |
| GARD:16156 |
Skin creases, congenital symmetric circumferential, 2 |
| GARD:5231 |
Skin fragility-woolly hair-palmoplantar keratoderma syndrome |
| GARD:19008 |
Skin vascular disease |
| GARD:19197 |
Slender bone dysplasia |
| GARD:11923 |
Small cell carcinoma of the bladder |
| GARD:10411 |
Small cell carcinoma of the ovary |
| GARD:9344 |
Small cell lung cancer |
| GARD:5683 |
Smith-Lemli-Opitz syndrome |
| GARD:8197 |
Smith-Magenis syndrome |
| GARD:10620 |
Smith-McCort dysplasia |
| GARD:15411 |
Smith-mccort dysplasia 1 |
| GARD:15921 |
Smith-mccort dysplasia 2 |
| GARD:20036 |
Smoldering systemic mastocytosis |
| GARD:21881 |
Snakebite envenomation |
| GARD:7664 |
Sneddon syndrome |
| GARD:9706 |
Snowflake vitreoretinal degeneration |
| GARD:17382 |
Sodium channelopathy-related small fiber neuropathy |
| GARD:4898 |
Soft tissue sarcoma |
| GARD:19353 |
Solar urticaria |
| GARD:21780 |
Solid pseudopapillary carcinoma of pancreas |
| GARD:20420 |
Solid tumor associated with an acquired peripheral neuropathy |
| GARD:19039 |
Solitary bone cyst |
| GARD:15014 |
Solitary fibrous tumor/hemangiopericytoma |
| GARD:4877 |
Solitary median maxillary central incisor |
| GARD:19743 |
Solitary necrotic nodule of the liver |
| GARD:20444 |
Solitary rectal ulcer syndrome |
| GARD:21391 |
Somatomammotropinoma |
| GARD:4900 |
Somatostatinoma |
| GARD:16850 |
Somatotropic adenoma |
| GARD:10511 |
Sorsby fundus dystrophy |
| GARD:16480 |
Sorsby pseudoinflammatory fundus dystrophy |
| GARD:10091 |
Sotos syndrome |
| GARD:15048 |
Sotos syndrome |
| GARD:16867 |
Southeast Asian ovalocytosis |
| GARD:21058 |
Spasmus nutans |
| GARD:21401 |
Spastic ataxia |
| GARD:16560 |
Spastic ataxia with congenital miosis |
| GARD:3795 |
Spastic ataxia-corneal dystrophy syndrome |
| GARD:22247 |
Spastic ataxia-dysarthria due to glutaminase deficiency |
| GARD:18033 |
Spastic paraparesis-cataracts-speech delay syndrome |
| GARD:5555 |
Spastic paraparesis-deafness syndrome |
| GARD:15749 |
Spastic paraplegia 47, autosomal recessive |
| GARD:15592 |
Spastic paraplegia 50, autosomal recessive |
| GARD:13737 |
Spastic paraplegia 51, autosomal recessive |
| GARD:15750 |
Spastic paraplegia 52, autosomal recessive |
| GARD:4923 |
Spastic paraplegia type 2 |
| GARD:4927 |
Spastic paraplegia type 7 |
| GARD:21491 |
Spastic paraplegia-Paget disease of bone syndrome |
| GARD:806 |
Spastic paraplegia-facial-cutaneous lesions syndrome |
| GARD:4931 |
Spastic paraplegia-glaucoma-intellectual disability syndrome |
| GARD:17957 |
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome |
| GARD:2342 |
Spastic paraplegia-nephritis-deafness syndrome |
| GARD:4921 |
Spastic paraplegia-neuropathy-poikiloderma syndrome |
| GARD:21797 |
Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder |
| GARD:17479 |
Spastic paraplegia-optic atrophy-neuropathy syndrome |
| GARD:4918 |
Spastic paraplegia-precocious puberty syndrome |
| GARD:17816 |
Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| GARD:4932 |
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome |
| GARD:13425 |
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| GARD:20118 |
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells |
| GARD:20456 |
Specific language disorder |
| GARD:20455 |
Specific learning disability |
| GARD:17516 |
Spectrin-associated autosomal recessive cerebellar ataxia |
| GARD:16921 |
Spermatocytic seminoma |
| GARD:15214 |
Spermatogenic failure 1 |
| GARD:18401 |
Spermatogenic failure 10 |
| GARD:15904 |
Spermatogenic failure 11 |
| GARD:15960 |
Spermatogenic failure 12 |
| GARD:16019 |
Spermatogenic failure 13 |
| GARD:16020 |
Spermatogenic failure 14 |
| GARD:16173 |
Spermatogenic failure 15 |
| GARD:18402 |
Spermatogenic failure 18 |
| GARD:18403 |
Spermatogenic failure 19 |
| GARD:15041 |
Spermatogenic failure 2 |
| GARD:18404 |
Spermatogenic failure 20 |
| GARD:16245 |
Spermatogenic failure 22 |
| GARD:16246 |
Spermatogenic failure 23 |
| GARD:16274 |
Spermatogenic failure 25 |
| GARD:18405 |
Spermatogenic failure 27 |
| GARD:16290 |
Spermatogenic failure 28 |
| GARD:18399 |
Spermatogenic failure 3 |
| GARD:16291 |
Spermatogenic failure 30 |
| GARD:16292 |
Spermatogenic failure 32 |
| GARD:18406 |
Spermatogenic failure 33 |
| GARD:18407 |
Spermatogenic failure 34 |
| GARD:18408 |
Spermatogenic failure 37 |
| GARD:18409 |
Spermatogenic failure 38 |
| GARD:18410 |
Spermatogenic failure 39 |
| GARD:15235 |
Spermatogenic failure 4 |
| GARD:18411 |
Spermatogenic failure 40 |
| GARD:18412 |
Spermatogenic failure 41 |
| GARD:18413 |
Spermatogenic failure 42 |
| GARD:18414 |
Spermatogenic failure 43 |
| GARD:16420 |
Spermatogenic failure 48 |
| GARD:16436 |
Spermatogenic failure 52 |
| GARD:15032 |
Spermatogenic failure 6 |
| GARD:18400 |
Spermatogenic failure 7 |
| GARD:15734 |
Spermatogenic failure 8 |
| GARD:15735 |
Spermatogenic failure 9 |
| GARD:8406 |
Spermatogenic failure, x-linked, 1 |
| GARD:15302 |
Spermatogenic failure, x-linked, 2 |
| GARD:18503 |
Spermatogenic failure, y-linked, 1 |
| GARD:18504 |
Spermatogenic failure, y-linked, 2 |
| GARD:16149 |
Spherocytosis, type 2 |
| GARD:15236 |
Spherocytosis, type 3 |
| GARD:15576 |
Spherocytosis, type 4 |
| GARD:15578 |
Spherocytosis, type 5 |
| GARD:8711 |
Spheroid body myopathy |
| GARD:7672 |
Sphingolipidosis |
| GARD:21615 |
Sphingolipidosis with epilepsy |
| GARD:21371 |
Spigelian hernia-cryptorchidism syndrome |
| GARD:20951 |
Spina bifida aperta |
| GARD:20958 |
Spina bifida cystica |
| GARD:4940 |
Spina bifida-hypospadias syndrome |
| GARD:15113 |
Spinal arachnoiditis |
| GARD:11892 |
Spinal arteriovenous metameric syndrome |
| GARD:4942 |
Spinal atrophy-ophthalmoplegia-pyramidal syndrome |
| GARD:19109 |
Spinal cord injury |
| GARD:9701 |
Spinal intradural arachnoid cysts |
| GARD:20381 |
Spinal muscular atrophy associated with central nervous system anomaly |
| GARD:4947 |
Spinal muscular atrophy with congenital bone fractures 1 |
| GARD:18495 |
Spinal muscular atrophy with congenital bone fractures 2 |
| GARD:8592 |
Spinal muscular atrophy with respiratory distress type 1 |
| GARD:21723 |
Spinal muscular atrophy with respiratory distress type 2 |
| GARD:18443 |
Spinal muscular atrophy, distal, autosomal recessive, 5 |
| GARD:18922 |
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome |
| GARD:3875 |
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome |
| GARD:20452 |
Spindle cell hemangioma |
| GARD:4071 |
Spinocerebellar ataxia type 1 |
| GARD:10474 |
Spinocerebellar ataxia type 10 |
| GARD:10475 |
Spinocerebellar ataxia type 11 |
| GARD:10476 |
Spinocerebellar ataxia type 12 |
| GARD:9611 |
Spinocerebellar ataxia type 13 |
| GARD:9867 |
Spinocerebellar ataxia type 14 |
| GARD:10477 |
Spinocerebellar ataxia type 15/16 |
| GARD:10469 |
Spinocerebellar ataxia type 17 |
| GARD:9976 |
Spinocerebellar ataxia type 18 |
| GARD:12365 |
Spinocerebellar ataxia type 19/22 |
| GARD:4072 |
Spinocerebellar ataxia type 2 |
| GARD:9997 |
Spinocerebellar ataxia type 20 |
| GARD:9999 |
Spinocerebellar ataxia type 21 |
| GARD:9950 |
Spinocerebellar ataxia type 23 |
| GARD:9996 |
Spinocerebellar ataxia type 25 |
| GARD:9995 |
Spinocerebellar ataxia type 26 |
| GARD:9963 |
Spinocerebellar ataxia type 27 |
| GARD:9951 |
Spinocerebellar ataxia type 28 |
| GARD:10480 |
Spinocerebellar ataxia type 29 |
| GARD:6801 |
Spinocerebellar ataxia type 3 |
| GARD:4950 |
Spinocerebellar ataxia type 30 |
| GARD:9975 |
Spinocerebellar ataxia type 31 |
| GARD:17276 |
Spinocerebellar ataxia type 32 |
| GARD:59 |
Spinocerebellar ataxia type 34 |
| GARD:12366 |
Spinocerebellar ataxia type 35 |
| GARD:12367 |
Spinocerebellar ataxia type 36 |
| GARD:12368 |
Spinocerebellar ataxia type 37 |
| GARD:12369 |
Spinocerebellar ataxia type 38 |
| GARD:9970 |
Spinocerebellar ataxia type 4 |
| GARD:12371 |
Spinocerebellar ataxia type 40 |
| GARD:17810 |
Spinocerebellar ataxia type 41 |
| GARD:17811 |
Spinocerebellar ataxia type 42 |
| GARD:17917 |
Spinocerebellar ataxia type 43 |
| GARD:22353 |
Spinocerebellar ataxia type 45 |
| GARD:22352 |
Spinocerebellar ataxia type 46 |
| GARD:4953 |
Spinocerebellar ataxia type 5 |
| GARD:10351 |
Spinocerebellar ataxia type 6 |
| GARD:4955 |
Spinocerebellar ataxia type 7 |
| GARD:4956 |
Spinocerebellar ataxia type 8 |
| GARD:10000 |
Spinocerebellar ataxia with axonal neuropathy type 1 |
| GARD:12860 |
Spinocerebellar ataxia with axonal neuropathy type 2 |
| GARD:17229 |
Spinocerebellar ataxia with epilepsy |
| GARD:15389 |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| GARD:4958 |
Spinocerebellar ataxia-dysmorphism syndrome |
| GARD:1525 |
Spinocerebellar degeneration-corneal dystrophy syndrome |
| GARD:19701 |
Spirillary rat-bite fever |
| GARD:21248 |
Splenic diffuse red pulp small B-cell lymphoma |
| GARD:19072 |
Splenic marginal zone lymphoma |
| GARD:4963 |
Splenogonadal fusion-limb defects-micrognathia syndrome |
| GARD:22317 |
Split cord malformation |
| GARD:1851 |
Split cord malformation type I |
| GARD:22316 |
Split cord malformation type II |
| GARD:16686 |
Split hand-split foot-deafness syndrome |
| GARD:17889 |
Split-foot malformation-mesoaxial polydactyly syndrome |
| GARD:15308 |
Split-hand/foot malformation 2 |
| GARD:15193 |
Split-hand/foot malformation 3 |
| GARD:15378 |
Split-hand/foot malformation 4 |
| GARD:15398 |
Split-hand/foot malformation 5 |
| GARD:15166 |
Split-hand/foot malformation 6 |
| GARD:15050 |
Split-hand/foot malformation with long bone deficiency 1 |
| GARD:15492 |
Split-hand/foot malformation with long bone deficiency 2 |
| GARD:17154 |
Spondylo-megaepiphyseal-metaphyseal dysplasia |
| GARD:16740 |
Spondylo-ocular syndrome |
| GARD:4972 |
Spondylocamptodactyly syndrome |
| GARD:4974 |
Spondylocarpotarsal synostosis |
| GARD:10726 |
Spondylocostal dysostosis 1, autosomal recessive |
| GARD:9703 |
Spondylocostal dysostosis 2, autosomal recessive |
| GARD:4973 |
Spondylocostal dysostosis 3, autosomal recessive |
| GARD:4976 |
Spondylocostal dysostosis 4, autosomal recessive |
| GARD:12807 |
Spondylocostal dysostosis 6, autosomal recessive |
| GARD:22214 |
Spondylodysplastic Ehlers-Danlos syndrome |
| GARD:19193 |
Spondylodysplastic dysplasia |
| GARD:4978 |
Spondyloenchondrodysplasia |
| GARD:134 |
Spondyloepimetaphyseal dysplasia congenita, Strudwick type |
| GARD:4982 |
Spondyloepimetaphyseal dysplasia with joint laxity |
| GARD:16348 |
Spondyloepimetaphyseal dysplasia with joint laxity, type 3 |
| GARD:9866 |
Spondyloepimetaphyseal dysplasia with multiple dislocations |
| GARD:10057 |
Spondyloepimetaphyseal dysplasia, Geneviève type |
| GARD:10741 |
Spondyloepimetaphyseal dysplasia, Handigodu type |
| GARD:16819 |
Spondyloepimetaphyseal dysplasia, Irapa type |
| GARD:21586 |
Spondyloepimetaphyseal dysplasia, Isidor type |
| GARD:10618 |
Spondyloepimetaphyseal dysplasia, Missouri type |
| GARD:16813 |
Spondyloepimetaphyseal dysplasia, PAPSS2 type |
| GARD:4980 |
Spondyloepimetaphyseal dysplasia, Shohat type |
| GARD:10513 |
Spondyloepimetaphyseal dysplasia, aggrecan type |
| GARD:10611 |
Spondyloepimetaphyseal dysplasia, matrilin-3 type |
| GARD:17030 |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome |
| GARD:10101 |
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome |
| GARD:10616 |
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| GARD:7687 |
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia |
| GARD:4987 |
Spondyloepiphyseal dysplasia congenita |
| GARD:10624 |
Spondyloepiphyseal dysplasia tarda |
| GARD:16995 |
Spondyloepiphyseal dysplasia tarda, Kohn type |
| GARD:15114 |
Spondyloepiphyseal dysplasia tarda, autosomal dominant |
| GARD:15237 |
Spondyloepiphyseal dysplasia tarda, autosomal recessive |
| GARD:4985 |
Spondyloepiphyseal dysplasia tarda, x-linked |
| GARD:10220 |
Spondyloepiphyseal dysplasia with metatarsal shortening |
| GARD:16814 |
Spondyloepiphyseal dysplasia, Kimberley type |
| GARD:16996 |
Spondyloepiphyseal dysplasia, MacDermot type |
| GARD:994 |
Spondyloepiphyseal dysplasia, Maroteaux type |
| GARD:16994 |
Spondyloepiphyseal dysplasia, Reardon type |
| GARD:17812 |
Spondyloepiphyseal dysplasia, Stanescu type |
| GARD:10629 |
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome |
| GARD:16993 |
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome |
| GARD:18025 |
Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome |
| GARD:18685 |
Spondylometaphyseal dysplasia |
| GARD:4991 |
Spondylometaphyseal dysplasia, 'corner fracture' type |
| GARD:458 |
Spondylometaphyseal dysplasia, A4 type |
| GARD:21587 |
Spondylometaphyseal dysplasia, Czarny-Ratajczak type |
| GARD:8343 |
Spondylometaphyseal dysplasia, Golden type |
| GARD:3047 |
Spondylometaphyseal dysplasia, Kozlowski type |
| GARD:504 |
Spondylometaphyseal dysplasia, Schmidt type |
| GARD:4993 |
Spondylometaphyseal dysplasia, Sedaghatian type |
| GARD:8719 |
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome |
| GARD:10647 |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| GARD:18016 |
Spondylometaphyseal dysplasia-corneal dystrophy syndrome |
| GARD:4994 |
Spondyloperipheral dysplasia-short ulna syndrome |
| GARD:21854 |
Spontaneous intracranial hypotension |
| GARD:4815 |
Spontaneous periodic hypothermia |
| GARD:6956 |
Sporadic Creutzfeldt-Jakob disease |
| GARD:20654 |
Sporadic adult-onset ataxia of unknown etiology |
| GARD:22349 |
Sporadic fatal insomnia |
| GARD:18734 |
Sporadic fetal brain disruption sequence |
| GARD:22327 |
Sporadic human prion disease |
| GARD:21282 |
Sporadic hyperekplexia |
| GARD:20549 |
Sporadic infantile bilateral striatal necrosis |
| GARD:7385 |
Sporadic pheochromocytoma/secreting paraganglioma |
| GARD:17749 |
Sporadic porphyria cutanea tarda |
| GARD:7692 |
Sporotrichosis |
| GARD:19828 |
Spotted fever rickettsiosis |
| GARD:7693 |
Sprengel deformity |
| GARD:21792 |
Squamous cell carcinoma of gallbladder and extrahepatic biliary tract |
| GARD:21789 |
Squamous cell carcinoma of liver and intrahepatic biliary tract |
| GARD:22046 |
Squamous cell carcinoma of oral cavity and lip |
| GARD:21776 |
Squamous cell carcinoma of pancreas |
| GARD:17929 |
Squamous cell carcinoma of salivary glands |
| GARD:21774 |
Squamous cell carcinoma of the anal canal |
| GARD:20487 |
Squamous cell carcinoma of the cervix uteri |
| GARD:21768 |
Squamous cell carcinoma of the colon |
| GARD:20479 |
Squamous cell carcinoma of the corpus uteri |
| GARD:18901 |
Squamous cell carcinoma of the esophagus |
| GARD:17907 |
Squamous cell carcinoma of the hypopharynx |
| GARD:17908 |
Squamous cell carcinoma of the larynx |
| GARD:17933 |
Squamous cell carcinoma of the lip |
| GARD:17927 |
Squamous cell carcinoma of the nasal cavity and paranasal sinuses |
| GARD:17932 |
Squamous cell carcinoma of the oral cavity |
| GARD:17928 |
Squamous cell carcinoma of the oropharynx |
| GARD:21639 |
Squamous cell carcinoma of the penis |
| GARD:21770 |
Squamous cell carcinoma of the rectum |
| GARD:21764 |
Squamous cell carcinoma of the small intestine |
| GARD:21743 |
Squamous cell carcinoma of the stomach |
| GARD:19041 |
St. Louis encephalitis |
| GARD:12631 |
Stapes ankylosis with broad thumbs and toes |
| GARD:18821 |
Staphylococcal necrotizing pneumonia |
| GARD:13158 |
Staphylococcal scalded skin syndrome |
| GARD:18819 |
Staphylococcal scarlet fever |
| GARD:21239 |
Staphylococcal toxemia |
| GARD:19710 |
Staphylococcal toxic-shock syndrome |
| GARD:181 |
Stargardt disease |
| GARD:15314 |
Stargardt disease 3 |
| GARD:15359 |
Stargardt disease 4 |
| GARD:20081 |
Startle epilepsy |
| GARD:5004 |
Steatocystoma multiplex-natal teeth syndrome |
| GARD:17735 |
Steel syndrome |
| GARD:8310 |
Steinert myotonic dystrophy |
| GARD:10516 |
Sterile multifocal osteomyelitis with periostitis and pustulosis |
| GARD:5012 |
Sternal cleft |
| GARD:5015 |
Steroid dehydrogenase deficiency-dental anomalies syndrome |
| GARD:8570 |
Steroid-responsive encephalopathy associated with autoimmune thyroiditis |
| GARD:18969 |
Sterol biosynthesis disorder |
| GARD:18981 |
Sterol metabolism disorder |
| GARD:20558 |
Sterol metabolism disorder with epilepsy |
| GARD:7700 |
Stevens-Johnson syndrome |
| GARD:22066 |
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome |
| GARD:7743 |
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum |
| GARD:10782 |
Stickler syndrome |
| GARD:5018 |
Stickler syndrome type 1 |
| GARD:5020 |
Stickler syndrome type 2 |
| GARD:15461 |
Stickler syndrome, type i, nonsyndromic ocular |
| GARD:18358 |
Stickler syndrome, type iv |
| GARD:18359 |
Stickler syndrome, type v |
| GARD:5023 |
Stiff person spectrum disorder |
| GARD:5025 |
Stiff skin syndrome |
| GARD:5026 |
Stimmler syndrome |
| GARD:5188 |
Stormorken-Sjaastad-Langslet syndrome |
| GARD:19631 |
Straddling and/or overriding mitral valve |
| GARD:19263 |
Straddling or overriding tricuspid valve |
| GARD:19702 |
Streptobacillary rat-bite fever |
| GARD:19709 |
Streptococcal toxic-shock syndrome |
| GARD:22235 |
Streptococcus pneumoniae-associated hemolytic uremic syndrome |
| GARD:15016 |
Striate palmoplantar keratoderma |
| GARD:18315 |
Striatonigral degeneration, infantile, mitochondrial |
| GARD:19519 |
Stromal corneal dystrophy |
| GARD:17945 |
Stromme syndrome |
| GARD:8195 |
Strongyloidiasis |
| GARD:22082 |
Structural developmental eye defect |
| GARD:22165 |
Structural developmental eye defect of genetic origin |
| GARD:7706 |
Sturge-Weber syndrome |
| GARD:5045 |
Stüve-Wiedemann syndrome |
| GARD:19775 |
Sub-cortical nodular heterotopia |
| GARD:20042 |
Subacute cutaneous lupus erythematosus |
| GARD:20355 |
Subacute inflammatory demyelinating polyneuropathy |
| GARD:7708 |
Subacute sclerosing leukoencephalitis |
| GARD:19656 |
Subaortic course of innominate vein |
| GARD:18242 |
Subaortic stenosis, membranous |
| GARD:405 |
Subaortic stenosis-short stature syndrome |
| GARD:13606 |
Subcorneal pustular dermatosis |
| GARD:1904 |
Subcortical band heterotopia |
| GARD:10193 |
Subcutaneous panniculitis-like T-cell lymphoma |
| GARD:19011 |
Subcutaneous tissue disease |
| GARD:10632 |
Subependymal giant cell astrocytoma |
| GARD:5050 |
Subependymal nodular heterotopia |
| GARD:10070 |
Subependymoma |
| GARD:16878 |
Subepithelial mucinous corneal dystrophy |
| GARD:19976 |
Submucosal cleft palate |
| GARD:5051 |
Subpulmonary stenosis |
| GARD:7695 |
Succinic semialdehyde dehydrogenase deficiency |
| GARD:4774 |
Succinyl-CoA:3-oxoacid CoA transferase deficiency |
| GARD:12382 |
Sudden infant death-dysgenesis of the testes syndrome |
| GARD:5058 |
Sugarman brachydactyly |
| GARD:19188 |
Sulfation-related bone disorder |
| GARD:3705 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency |
| GARD:17386 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A |
| GARD:17387 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| GARD:17388 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C |
| GARD:127 |
Summitt syndrome |
| GARD:19518 |
Superficial corneal dystrophy |
| GARD:2966 |
Superficial epidermolytic ichthyosis |
| GARD:20328 |
Superficial fibromatosis |
| GARD:18833 |
Superficial pemphigus |
| GARD:9484 |
Superficial siderosis |
| GARD:10940 |
Superior limbic keratoconjunctivitis |
| GARD:7712 |
Superior mesenteric artery syndrome |
| GARD:20195 |
Supernumerary breasts |
| GARD:19946 |
Supernumerary nostril |
| GARD:19546 |
Supranuclear eye movement disorder |
| GARD:18344 |
Supranuclear palsy, progressive, 2 |
| GARD:18345 |
Supranuclear palsy, progressive, 3 |
| GARD:21941 |
Supratip dysplasia |
| GARD:743 |
Supravalvular aortic stenosis |
| GARD:4594 |
Supravalvular pulmonary stenosis |
| GARD:15263 |
Surfactant metabolism dysfunction, pulmonary, 4 |
| GARD:15793 |
Surfactant metabolism dysfunction, pulmonary, 5 |
| GARD:7713 |
Susac syndrome |
| GARD:17514 |
Susceptibility to infection due to TYK2 deficiency |
| GARD:21865 |
Susceptibility to localized juvenile periodontitis |
| GARD:17047 |
Susceptibility to respiratory infections associated with CD8alpha chain mutation |
| GARD:17612 |
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency |
| GARD:521 |
Sweet syndrome |
| GARD:7716 |
Sydenham chorea |
| GARD:1680 |
Symbrachydactyly of hands and feet |
| GARD:5070 |
Symmetrical thalamic calcifications |
| GARD:18939 |
Sympathetic ophthalmia |
| GARD:5077 |
Symphalangism with multiple anomalies of hands and feet |
| GARD:15942 |
Symphalangism, proximal, 1b |
| GARD:21057 |
Symptomatic form of Coffin-Lowry syndrome in female carriers |
| GARD:22439 |
Symptomatic form of X-linked centronuclear myopathy in female carriers |
| GARD:17783 |
Symptomatic form of fragile X syndrome in female carriers |
| GARD:10417 |
Symptomatic form of hemochromatosis type 1 |
| GARD:20350 |
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers |
| GARD:16872 |
Synaptic congenital myasthenic syndromes |
| GARD:5081 |
Syndactyly type 1 |
| GARD:5087 |
Syndactyly type 2 |
| GARD:5088 |
Syndactyly type 3 |
| GARD:4434 |
Syndactyly type 4 |
| GARD:5089 |
Syndactyly type 5 |
| GARD:21201 |
Syndactyly type 6 |
| GARD:3559 |
Syndactyly type 8 |
| GARD:17551 |
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome |
| GARD:21175 |
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication |
| GARD:5090 |
Syndactyly-polydactyly-ear lobe syndrome |
| GARD:10295 |
Syndactyly-telecanthus-anogenital and renal malformations syndrome |
| GARD:20529 |
Syndrome associated with dilated cardiomyopathy |
| GARD:20523 |
Syndrome associated with hypertrophic cardiomyopathy |
| GARD:22390 |
Syndrome of reduced sensitivity to thyroid hormone |
| GARD:19998 |
Syndrome or malformation associated with head and neck malformations |
| GARD:21467 |
Syndrome with 46,XX disorder of sex development |
| GARD:19411 |
Syndrome with 46,XY disorder of sex development |
| GARD:21002 |
Syndrome with a Dandy-Walker malformation as a major feature |
| GARD:19866 |
Syndrome with a central nervous system malformation as a major feature |
| GARD:20999 |
Syndrome with a cerebellar malformation as a major feature |
| GARD:20627 |
Syndrome with alpha-thalassemia as a major feature |
| GARD:21510 |
Syndrome with combined immunodeficiency |
| GARD:20339 |
Syndrome with corpus callosum agenesis/dysgenesis as a major feature |
| GARD:21479 |
Syndrome with disorder of sex development of gynecological interest |
| GARD:20223 |
Syndrome with hypoparathyroidism |
| GARD:21188 |
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy |
| GARD:19871 |
Syndrome with limb malformations as a major feature |
| GARD:21186 |
Syndrome with limb reduction defects |
| GARD:21000 |
Syndrome with microcephaly as a major feature |
| GARD:21036 |
Syndrome with pulmonary hypertension as a major feature |
| GARD:19212 |
Syndrome with synostosis or other joint formation defect |
| GARD:21803 |
Syndrome with woolly hair |
| GARD:9156 |
Syndromic X-linked intellectual disability 7 |
| GARD:20596 |
Syndromic agammaglobulinemia |
| GARD:19494 |
Syndromic aniridia |
| GARD:19499 |
Syndromic ankyloblepharon filiforme adnatum |
| GARD:19874 |
Syndromic anorectal malformation |
| GARD:22148 |
Syndromic autoimmune enteropathy |
| GARD:22019 |
Syndromic biliary atresia |
| GARD:20196 |
Syndromic breast hypoplasia/aplasia |
| GARD:19527 |
Syndromic cataract |
| GARD:22106 |
Syndromic chorioretinal dystrophy |
| GARD:22262 |
Syndromic congenital sodium diarrhea |
| GARD:21967 |
Syndromic constitutional thrombocytopenia |
| GARD:19521 |
Syndromic corneal dystrophy |
| GARD:19911 |
Syndromic craniosynostosis |
| GARD:19864 |
Syndromic diaphragmatic or abdominal wall malformation |
| GARD:20212 |
Syndromic diaphragmatic or thoracic malformation |
| GARD:5258 |
Syndromic diarrhea |
| GARD:19542 |
Syndromic disorder with strabismus |
| GARD:22092 |
Syndromic ectopia lentis |
| GARD:19504 |
Syndromic epicanthus |
| GARD:19856 |
Syndromic esophageal malformation |
| GARD:19500 |
Syndromic eyelid coloboma |
| GARD:19858 |
Syndromic gastroduodenal malformation |
| GARD:22170 |
Syndromic genetic cataract |
| GARD:19145 |
Syndromic genetic deafness |
| GARD:22157 |
Syndromic genetic disorder with strabismus |
| GARD:22173 |
Syndromic genetic ectopia lentis |
| GARD:22178 |
Syndromic genetic keratoconus |
| GARD:18998 |
Syndromic hair shaft abnormality |
| GARD:21845 |
Syndromic hereditary optic neuropathy |
| GARD:19516 |
Syndromic hyperopia |
| GARD:20137 |
Syndromic hypothyroidism |
| GARD:22108 |
Syndromic inherited retinal disorder |
| GARD:19860 |
Syndromic intestinal malformation |
| GARD:19517 |
Syndromic keratoconus |
| GARD:22083 |
Syndromic lacrimal system disorder |
| GARD:22107 |
Syndromic macular dystrophy |
| GARD:3692 |
Syndromic microphthalmia type 5 |
| GARD:20342 |
Syndromic microphthalmia-anophthalmia-coloboma |
| GARD:22093 |
Syndromic microspherophakia |
| GARD:10775 |
Syndromic multisystem autoimmune disease due to Itch deficiency |
| GARD:19001 |
Syndromic nail anomaly |
| GARD:20650 |
Syndromic obesity |
| GARD:21125 |
Syndromic oculocutaneous albinism |
| GARD:19888 |
Syndromic optic nerve hypoplasia |
| GARD:16858 |
Syndromic orbital border hypoplasia |
| GARD:19506 |
Syndromic outer canthal malposition |
| GARD:17302 |
Syndromic recessive X-linked ichthyosis |
| GARD:19218 |
Syndromic renal or urinary tract malformation |
| GARD:19868 |
Syndromic respiratory or mediastinal malformation |
| GARD:19538 |
Syndromic rod-cone dystrophy |
| GARD:17799 |
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect |
| GARD:19505 |
Syndromic telecanthus |
| GARD:20064 |
Syndromic urogenital tract malformation |
| GARD:20187 |
Syndromic uterovaginal malformation |
| GARD:19862 |
Syndromic visceral malformation |
| GARD:22109 |
Syndromic vitreoretinopathy |
| GARD:5091 |
Syngnathia-cleft palate syndrome |
| GARD:9863 |
Synostoses, tarsal, carpal, and digital |
| GARD:7721 |
Synovial sarcoma |
| GARD:17358 |
Synpolydactyly type 1 |
| GARD:17359 |
Synpolydactyly type 2 |
| GARD:17360 |
Synpolydactyly type 3 |
| GARD:5100 |
Syringocystadenoma papilliferum |
| GARD:7725 |
Syringomyelia |
| GARD:21562 |
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood |
| GARD:20256 |
Systemic autoimmune disease |
| GARD:1084 |
Systemic capillary leak syndrome |
| GARD:22289 |
Systemic disease with glomerulopathy as a major feature |
| GARD:21160 |
Systemic disease with skin involvement |
| GARD:21101 |
Systemic diseases with anterior uveitis |
| GARD:21103 |
Systemic diseases with panuveitis |
| GARD:21102 |
Systemic diseases with posterior uveitis |
| GARD:20416 |
Systemic inflammatory disease associated with an acquired peripheral neuropathy |
| GARD:18695 |
Systemic lupus erythematosus |
| GARD:8616 |
Systemic mastocytosis |
| GARD:19596 |
Systemic mastocytosis with associated hematologic neoplasm |
| GARD:19116 |
Systemic monochloroacetate poisoning |
| GARD:21833 |
Systemic polyarteritis nodosa |
| GARD:5104 |
Systemic primary carnitine deficiency |
| GARD:9748 |
Systemic sclerosis |
| GARD:22292 |
Systemic vasculitis associated with glomerulopathy |
| GARD:10966 |
Systemic-onset juvenile idiopathic arthritis |
| GARD:7629 |
Sézary syndrome |
| GARD:21636 |
T+ B+ severe combined immunodeficiency |
| GARD:21405 |
T-B+ severe combined immunodeficiency |
| GARD:17053 |
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta |
| GARD:17052 |
T-B+ severe combined immunodeficiency due to CD45 deficiency |
| GARD:17051 |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency |
| GARD:16632 |
T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| GARD:5618 |
T-B+ severe combined immunodeficiency due to gamma chain deficiency |
| GARD:21406 |
T-B- severe combined immunodeficiency |
| GARD:17483 |
T-cell immunodeficiency with epidermodysplasia verruciformis |
| GARD:9812 |
T-cell large granular lymphocyte leukemia |
| GARD:20133 |
T-cell non-Hodgkin lymphoma |
| GARD:13731 |
T-cell prolymphocytic leukemia |
| GARD:12257 |
T-cell/histiocyte rich large B cell lymphoma |
| GARD:21902 |
TAFRO syndrome |
| GARD:10089 |
TARP syndrome |
| GARD:17896 |
TBCK-related intellectual disability syndrome |
| GARD:17646 |
TCR-alpha-beta-positive T-cell deficiency |
| GARD:17898 |
TELO2-related intellectual disability-neurodevelopmental disorder |
| GARD:10962 |
TEMPI syndrome |
| GARD:17558 |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| GARD:12413 |
TMEM165-CDG |
| GARD:17825 |
TMEM199-CDG |
| GARD:16561 |
TMEM70-related mitochondrial encephalo-cardio-myopathy |
| GARD:17998 |
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome |
| GARD:12530 |
TNP03-related limb-girdle muscular dystrophy D2 |
| GARD:17708 |
TOR1AIP1-related limb-girdle muscular dystrophy |
| GARD:22370 |
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome |
| GARD:12543 |
TRAPPC11-related limb-girdle muscular dystrophy R18 |
| GARD:22395 |
TRIM22-related inflammatory bowel disease |
| GARD:3844 |
TRIM32-related limb-girdle muscular dystrophy R8 |
| GARD:21577 |
TRPV4-related bone disorder |
| GARD:19157 |
TSH-secreting pituitary adenoma |
| GARD:7730 |
Takayasu arteritis |
| GARD:9400 |
Tako-Tsubo cardiomyopathy |
| GARD:17921 |
Tall stature-intellectual disability-renal anomalies syndrome |
| GARD:17495 |
Tall stature-long halluces-multiple extra-epiphyses syndrome |
| GARD:10061 |
Talo-patello-scaphoid osteolysis |
| GARD:7731 |
Tangier disease |
| GARD:19672 |
Tarsal kink syndrome |
| GARD:9225 |
Tarsal-carpal coalition syndrome |
| GARD:17674 |
Tatton-Brown-Rahman syndrome |
| GARD:7737 |
Tay-Sachs disease |
| GARD:21326 |
Tay-Sachs disease, B variant, adult form |
| GARD:21324 |
Tay-Sachs disease, B variant, infantile form |
| GARD:21325 |
Tay-Sachs disease, B variant, juvenile form |
| GARD:21327 |
Tay-Sachs disease, B1 variant |
| GARD:5125 |
Teebi-Shaltout syndrome |
| GARD:5128 |
Tel Hashomer camptodactyly syndrome |
| GARD:19136 |
Telangiectasia macularis eruptiva perstans |
| GARD:9901 |
Telangiectasia, hereditary hemorrhagic, type 2 |
| GARD:9902 |
Telangiectasia, hereditary hemorrhagic, type 3 |
| GARD:10615 |
Telangiectasia, hereditary hemorrhagic, type 4 |
| GARD:15978 |
Telangiectasia, hereditary hemorrhagic, type 5 |
| GARD:18791 |
Telecanthus-hypertelorism-strabismus-pes cavus syndrome |
| GARD:10471 |
Telethonin-related limb-girdle muscular dystrophy R7 |
| GARD:17530 |
Temperature-sensitive oculocutaneous albinism type 1 |
| GARD:13431 |
Temple syndrome |
| GARD:16848 |
Temple syndrome due to maternal uniparental disomy of chromosome 14 |
| GARD:17222 |
Temple syndrome due to paternal 14q32.2 hypomethylation |
| GARD:17220 |
Temple syndrome due to paternal 14q32.2 microdeletion |
| GARD:9441 |
Temple-Baraitser syndrome |
| GARD:20451 |
Temporomandibular joint anomaly |
| GARD:9679 |
Temtamy preaxial brachydactyly syndrome |
| GARD:5688 |
Temtamy syndrome |
| GARD:7396 |
Tenosynovial giant cell tumor |
| GARD:19899 |
Teratogenic Pierre Robin syndrome |
| GARD:20735 |
Teratoma of the central nervous system |
| GARD:16769 |
Terminal osseous dysplasia-pigmentary defects syndrome |
| GARD:22025 |
Terminal transverse limb defect |
| GARD:22133 |
Terrien marginal degeneration |
| GARD:16974 |
Tessier number 4 facial cleft |
| GARD:19968 |
Tessier number 5 facial cleft |
| GARD:19969 |
Tessier number 6 facial cleft |
| GARD:16975 |
Tessier number 7 facial cleft |
| GARD:5819 |
Testicular agenesis |
| GARD:18360 |
Testicular anomalies with or without congenital heart disease |
| GARD:16552 |
Testicular regression syndrome |
| GARD:4792 |
Testicular seminomatous germ cell tumor |
| GARD:17560 |
Testicular teratoma |
| GARD:5144 |
Tetanus |
| GARD:5148 |
Tetra-amelia |
| GARD:15238 |
Tetraamelia syndrome 1 |
| GARD:16286 |
Tetraamelia syndrome 2 |
| GARD:386 |
Tetraamelia-multiple malformations syndrome |
| GARD:20332 |
Tetragametic chimerism |
| GARD:21166 |
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria |
| GARD:2245 |
Tetralogy of Fallot |
| GARD:3707 |
Tetramelic monodactyly |
| GARD:5151 |
Tetraploidy |
| GARD:8421 |
Tetrasomy 12p |
| GARD:35 |
Tetrasomy 18p |
| GARD:12480 |
Tetrasomy 21 |
| GARD:18792 |
Tetrasomy 5p |
| GARD:42 |
Tetrasomy 9p |
| GARD:7754 |
Tetrasomy X |
| GARD:5158 |
Thakker-Donnai syndrome |
| GARD:2313 |
Thalidomide embryopathy |
| GARD:85 |
Thanatophoric dysplasia |
| GARD:9295 |
Thanatophoric dysplasia type 1 |
| GARD:1402 |
Thanatophoric dysplasia type 2 |
| GARD:19708 |
Theca steroid-producing cell malignant tumor of ovary, not further specified |
| GARD:12762 |
Therapy related acute myeloid leukemia and myelodysplastic syndrome |
| GARD:17097 |
Thiamine-responsive encephalopathy |
| GARD:17266 |
Thiamine-responsive maple syrup urine disease |
| GARD:9210 |
Thiamine-responsive megaloblastic anemia syndrome |
| GARD:2195 |
Thickened earlobes-conductive deafness syndrome |
| GARD:9275 |
Thiel-Behnke corneal dystrophy |
| GARD:4131 |
Thiemann disease, familial form |
| GARD:18727 |
Thin ribs-tubular bones-dysmorphism syndrome |
| GARD:20080 |
Thinking seizures |
| GARD:19935 |
Third branchial cleft anomaly |
| GARD:5175 |
Thomas syndrome |
| GARD:12301 |
Thomsen and Becker disease |
| GARD:5180 |
Thoracic dysplasia-hydrocephalus syndrome |
| GARD:20248 |
Thoracic malformation |
| GARD:7759 |
Thoracic outlet syndrome |
| GARD:5181 |
Thoraco-abdominal enteric duplication |
| GARD:15116 |
Thoracolaryngopelvic dysplasia |
| GARD:5184 |
Thoracolaryngopelvic dysplasia |
| GARD:20953 |
Thoracolumbosacral spina bifida aperta |
| GARD:20960 |
Thoracolumbosacral spina bifida cystica |
| GARD:10612 |
Thoracomelic dysplasia |
| GARD:15239 |
Three m syndrome 1 |
| GARD:15591 |
Three m syndrome 2 |
| GARD:15772 |
Three m syndrome 3 |
| GARD:21487 |
Thrombocythemia with distal limb defects |
| GARD:5191 |
Thrombocytopenia 2 |
| GARD:18288 |
Thrombocytopenia 3 |
| GARD:18289 |
Thrombocytopenia 4 |
| GARD:18492 |
Thrombocytopenia 7 |
| GARD:16676 |
Thrombocytopenia with congenital dyserythropoietic anemia |
| GARD:5116 |
Thrombocytopenia-absent radius syndrome |
| GARD:17726 |
Thrombomodulin-related bleeding disorder |
| GARD:18574 |
Thrombophilia due to protein c deficiency, autosomal dominant |
| GARD:13041 |
Thrombophilia due to protein c deficiency, autosomal recessive |
| GARD:18568 |
Thrombophilia due to protein s deficiency, autosomal dominant |
| GARD:18569 |
Thrombophilia due to protein s deficiency, autosomal recessive |
| GARD:19227 |
Thrombotic microangiopathy |
| GARD:16659 |
Thrombotic thrombocytopenic purpura |
| GARD:5199 |
Thumb deformity-alopecia-pigmentation anomaly syndrome |
| GARD:4375 |
Thumb stiffness-brachydactyly-intellectual disability syndrome |
| GARD:22131 |
Thygeson superficial punctate keratitis |
| GARD:7201 |
Thymic aplasia |
| GARD:19695 |
Thymic carcinoma |
| GARD:5201 |
Thymic epithelial neoplasm |
| GARD:19696 |
Thymic neuroendocrine carcinoma |
| GARD:19361 |
Thymic neuroendocrine tumor |
| GARD:19767 |
Thymic tumor |
| GARD:5202 |
Thymic-renal-anal-lung dysplasia |
| GARD:16922 |
Thymoma |
| GARD:20892 |
Thymoma type A |
| GARD:20894 |
Thymoma type AB |
| GARD:20893 |
Thymoma type B |
| GARD:1646 |
Thyrocerebrorenal syndrome |
| GARD:5206 |
Thyroid cancer, nonmedullary, 2 |
| GARD:15391 |
Thyroid cancer, nonmedullary, 3 |
| GARD:16132 |
Thyroid cancer, nonmedullary, 4 |
| GARD:16133 |
Thyroid cancer, nonmedullary, 5 |
| GARD:19763 |
Thyroid carcinoma |
| GARD:9428 |
Thyroid carcinoma, hurthle cell |
| GARD:15354 |
Thyroid carcinoma, nonmedullary, with or without cell oxyphilia |
| GARD:18188 |
Thyroid dyshormonogenesis 1 |
| GARD:18189 |
Thyroid dyshormonogenesis 2a |
| GARD:18190 |
Thyroid dyshormonogenesis 3 |
| GARD:18191 |
Thyroid dyshormonogenesis 4 |
| GARD:18192 |
Thyroid dyshormonogenesis 5 |
| GARD:18193 |
Thyroid dyshormonogenesis 6 |
| GARD:16841 |
Thyroid ectopia |
| GARD:16844 |
Thyroid hemiagenesis |
| GARD:8426 |
Thyroid hypoplasia |
| GARD:19359 |
Thyroid lymphoma |
| GARD:19762 |
Thyroid tumor |
| GARD:10814 |
Thyrotoxic periodic paralysis |
| GARD:15119 |
Thyrotoxic periodic paralysis, susceptibility to, 1 |
| GARD:15637 |
Thyrotoxic periodic paralysis, susceptibility to, 2 |
| GARD:15848 |
Thyrotoxic periodic paralysis, susceptibility to, 3 |
| GARD:1369 |
Tibial aplasia-ectrodactyly syndrome |
| GARD:8707 |
Tibial hemimelia |
| GARD:8309 |
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome |
| GARD:13154 |
Tibial muscular dystrophy |
| GARD:21208 |
Tibio-fibular synostosis |
| GARD:5216 |
Tick-borne encephalitis |
| GARD:7772 |
Tietz syndrome |
| GARD:9294 |
Timothy syndrome |
| GARD:22380 |
Timothy syndrome type 1 |
| GARD:22381 |
Timothy syndrome type 2 |
| GARD:12534 |
Titin-related limb-girdle muscular dystrophy R10 |
| GARD:18525 |
Tolchin-le caignec syndrome |
| GARD:7777 |
Tolosa-Hunt syndrome |
| GARD:18751 |
Toluene embryopathy |
| GARD:22695 |
Tonne-kalscheuer syndrome |
| GARD:18244 |
Tooth agenesis, selective, 1 |
| GARD:18247 |
Tooth agenesis, selective, 3 |
| GARD:18245 |
Tooth agenesis, selective, 4 |
| GARD:18248 |
Tooth agenesis, selective, 5 |
| GARD:18249 |
Tooth agenesis, selective, 7 |
| GARD:18250 |
Tooth agenesis, selective, 8 |
| GARD:18246 |
Tooth agenesis, selective, x-linked, 1 |
| GARD:5225 |
Toriello-Carey syndrome |
| GARD:10366 |
Toriello-Lacassie-Droste syndrome |
| GARD:16651 |
Torsade-de-pointes syndrome with short coupling interval |
| GARD:9631 |
Torsion dystonia with onset in infancy |
| GARD:5230 |
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome |
| GARD:19421 |
Total autosomal monosomy |
| GARD:19419 |
Total autosomal trisomy |
| GARD:1159 |
Total early-onset cataract |
| GARD:20952 |
Total spina bifida aperta |
| GARD:20959 |
Total spina bifida cystica |
| GARD:7784 |
Townes-Brocks syndrome |
| GARD:21171 |
Toxic dermatosis |
| GARD:18696 |
Toxic epidermal necrolysis |
| GARD:21061 |
Toxic maculopathy due to antimalarial drugs |
| GARD:20566 |
Toxic oil syndrome |
| GARD:20701 |
Toxic or drug-related embryofetopathy |
| GARD:20597 |
Toxin-mediated infectious botulism |
| GARD:18793 |
Toxocariasis |
| GARD:5233 |
Tracheal agenesis |
| GARD:20002 |
Tracheal anomaly |
| GARD:5235 |
Tracheobronchopathia osteochondroplastica |
| GARD:10445 |
Transaldolase deficiency |
| GARD:4522 |
Transcobalamin I deficiency |
| GARD:12338 |
Transcobalamin deficiency |
| GARD:3096 |
Transgrediens et progrediens palmoplantar keratoderma |
| GARD:20142 |
Transient congenital hypothyroidism |
| GARD:20645 |
Transient congenital hypothyroidism due to maternal factor |
| GARD:20646 |
Transient congenital hypothyroidism due to neonatal factor |
| GARD:7793 |
Transient erythroblastopenia of childhood |
| GARD:2791 |
Transient familial neonatal hyperbilirubinemia |
| GARD:21159 |
Transient hyperammonemia of the newborn |
| GARD:20112 |
Transient hypogammaglobulinemia of infancy |
| GARD:17363 |
Transient infantile hypertriglyceridemia and hepatosteatosis |
| GARD:12765 |
Transient myeloproliferative syndrome |
| GARD:1839 |
Transient neonatal diabetes mellitus |
| GARD:21498 |
Transient neonatal multiple acyl-CoA dehydrogenase deficiency |
| GARD:21625 |
Transient neonatal myasthenia gravis |
| GARD:19176 |
Transient pseudohypoaldosteronism |
| GARD:5388 |
Transient tyrosinemia of the newborn |
| GARD:20484 |
Transitional cell carcinoma of the corpus uteri |
| GARD:17894 |
Transketolase deficiency |
| GARD:7795 |
Transposition of the great arteries |
| GARD:19551 |
Transposition of the great arteries and conotruncal cardiac anomaly |
| GARD:20191 |
Transverse vaginal septum |
| GARD:21660 |
Traumatic avascular necrosis |
| GARD:15698 |
Treacher collins syndrome 2 |
| GARD:9125 |
Treacher collins syndrome 3 |
| GARD:16396 |
Treacher collins syndrome 4 |
| GARD:9124 |
Treacher-Collins syndrome |
| GARD:10372 |
Trehalase deficiency |
| GARD:17774 |
Tremor-ataxia-central hypomyelination syndrome |
| GARD:3948 |
Tremor-nystagmus-duodenal ulcer syndrome |
| GARD:18862 |
Trench fever |
| GARD:6194 |
Triatrial heart |
| GARD:20753 |
Tricarboxylic acid cycle disorder |
| GARD:5250 |
Trichinellosis |
| GARD:7799 |
Tricho-dento-osseous syndrome |
| GARD:938 |
Tricho-retino-dento-digital syndrome |
| GARD:265 |
Trichodental syndrome |
| GARD:4369 |
Trichodermodysplasia-dental alterations syndrome |
| GARD:18943 |
Trichodysplasia-amelogenesis imperfecta syndrome |
| GARD:5261 |
Trichodysplasia-xeroderma syndrome |
| GARD:10373 |
Trichoepithelioma, multiple familial, 2 |
| GARD:5263 |
Trichofolliculoma |
| GARD:15819 |
Trichohepatoenteric syndrome 2 |
| GARD:5266 |
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
| GARD:5267 |
Trichoodontoonychial dysplasia |
| GARD:21451 |
Trichorhinophalangeal syndrome |
| GARD:15017 |
Trichorhinophalangeal syndrome type 1 and 3 |
| GARD:7801 |
Trichorhinophalangeal syndrome type 2 |
| GARD:7800 |
Trichorhinophalangeal syndrome, type i |
| GARD:7802 |
Trichorhinophalangeal syndrome, type iii |
| GARD:12109 |
Trichothiodystrophy |
| GARD:5270 |
Trichothiodystrophy 1, photosensitive |
| GARD:16100 |
Trichothiodystrophy 2, photosensitive |
| GARD:16102 |
Trichothiodystrophy 3, photosensitive |
| GARD:5271 |
Trichothiodystrophy 4, nonphotosensitive |
| GARD:15277 |
Trichothiodystrophy 5, nonphotosensitive |
| GARD:16172 |
Trichothiodystrophy 6, nonphotosensitive |
| GARD:16362 |
Trichothiodystrophy 7, nonphotosensitive |
| GARD:5274 |
Tricuspid atresia |
| GARD:19261 |
Tricuspid valve agenesis |
| GARD:20017 |
Trigeminal autonomic cephalalgia |
| GARD:7805 |
Trigeminal neuralgia |
| GARD:22267 |
Triglyceride deposit cardiomyovasculopathy |
| GARD:18558 |
Trigonocephaly 1 |
| GARD:18559 |
Trigonocephaly 2 |
| GARD:5126 |
Trigonocephaly-bifid nose-acral anomalies syndrome |
| GARD:2756 |
Trigonocephaly-broad thumbs syndrome |
| GARD:243 |
Trigonocephaly-short stature-developmental delay syndrome |
| GARD:5286 |
Triopia |
| GARD:5287 |
Triose phosphate-isomerase deficiency |
| GARD:5290 |
Triphalangeal thumbs-brachyectrodactyly syndrome |
| GARD:457 |
Triple A syndrome |
| GARD:5295 |
Triploidy |
| GARD:2621 |
Trismus-pseudocamptodactyly syndrome |
| GARD:5299 |
Trisomy 10p |
| GARD:5305 |
Trisomy 12p |
| GARD:7341 |
Trisomy 13 |
| GARD:5318 |
Trisomy 17p |
| GARD:6321 |
Trisomy 18 |
| GARD:5323 |
Trisomy 18p |
| GARD:20781 |
Trisomy 1q |
| GARD:5333 |
Trisomy 20p |
| GARD:6091 |
Trisomy 4p |
| GARD:6093 |
Trisomy 5p |
| GARD:20920 |
Trisomy 8p |
| GARD:5362 |
Trisomy 8q |
| GARD:18683 |
Trisomy 9p |
| GARD:5672 |
Trisomy X |
| GARD:16768 |
Tritanopia |
| GARD:18928 |
Tropical endomyocardial fibrosis |
| GARD:16946 |
Tropical pancreatitis |
| GARD:8208 |
Tropical spastic paraparesis |
| GARD:21209 |
True congenital shoulder dislocation |
| GARD:20174 |
True unicornuate uterus |
| GARD:16627 |
Truncus arteriosus |
| GARD:7827 |
Tuberculosis |
| GARD:7828 |
Tuberculous meningitis |
| GARD:15121 |
Tuberous sclerosis 1 |
| GARD:15640 |
Tuberous sclerosis 2 |
| GARD:7830 |
Tuberous sclerosis complex |
| GARD:3884 |
Tubular aggregate myopathy |
| GARD:19745 |
Tubular duplication of the esophagus |
| GARD:21944 |
Tubulinopathy-associated dysgyria |
| GARD:21419 |
Tubulocystic renal cell carcinoma |
| GARD:9252 |
Tubulointerstitial nephritis and uveitis syndrome |
| GARD:425 |
Tufted angioma |
| GARD:9814 |
Tukel syndrome |
| GARD:396 |
Tularemia |
| GARD:8457 |
Tumor necrosis factor receptor 1 associated periodic syndrome |
| GARD:12697 |
Tumor of cranial and spinal nerves |
| GARD:20254 |
Tumor of endocrine glands |
| GARD:18878 |
Tumor of hematopoietic and lymphoid tissues |
| GARD:20737 |
Tumor of meninges |
| GARD:21549 |
Tumor of testis and paratestis |
| GARD:15146 |
Tumoral calcinosis, hyperphosphatemic, familial, 1 |
| GARD:16281 |
Tumoral calcinosis, hyperphosphatemic, familial, 2 |
| GARD:16282 |
Tumoral calcinosis, hyperphosphatemic, familial, 3 |
| GARD:393 |
Tungiasis |
| GARD:19621 |
Tunnel subaortic stenosis |
| GARD:16912 |
Turcot syndrome with polyposis |
| GARD:7831 |
Turner syndrome |
| GARD:19681 |
Turner syndrome due to structural X chromosome anomalies |
| GARD:22445 |
Twin anemia-polycythemia sequence |
| GARD:325 |
Twin to twin transfusion syndrome |
| GARD:22446 |
Twin-reversed arterial perfusion sequence |
| GARD:21957 |
Type 1 interferonopathy |
| GARD:21986 |
Type 1 interferonopathy of childhood |
| GARD:19187 |
Type 11 collagen-related bone disorder |
| GARD:19186 |
Type 2 collagen-related bone disorder |
| GARD:9564 |
Typhoid |
| GARD:19829 |
Typhus-group rickettsiosis |
| GARD:12822 |
Typical nemaline myopathy |
| GARD:20033 |
Typical urticaria pigmentosa |
| GARD:2658 |
Tyrosinemia type 1 |
| GARD:3105 |
Tyrosinemia type 2 |
| GARD:10332 |
Tyrosinemia type 3 |
| GARD:10679 |
UMOD-related autosomal dominant tubulointerstitial kidney disease |
| GARD:17875 |
USP18 deficiency |
| GARD:10947 |
UV-sensitive syndrome |
| GARD:5393 |
Uhl anomaly |
| GARD:5394 |
Ulbright-Hodes syndrome |
| GARD:5395 |
Ulerythema ophryogenesis |
| GARD:16120 |
Ullrich congenital muscular dystrophy 2 |
| GARD:5398 |
Ulna hypoplasia-intellectual disability syndrome |
| GARD:4740 |
Ulna metaphyseal dysplasia syndrome |
| GARD:19182 |
Ulnar hemimelia |
| GARD:5400 |
Ulnar hypoplasia-split foot syndrome |
| GARD:118 |
Ulnar-mammary syndrome |
| GARD:16654 |
Ulnar/fibula ray defect-brachydactyly syndrome |
| GARD:5403 |
Umbilical cord ulceration-intestinal atresia syndrome |
| GARD:12760 |
Unclassified acute myeloid leukemia |
| GARD:21457 |
Unclassified autoinflammatory syndrome |
| GARD:21461 |
Unclassified autoinflammatory syndrome of childhood |
| GARD:20534 |
Unclassified cardiomyopathy |
| GARD:19013 |
Unclassified genetic skin disorder |
| GARD:19854 |
Unclassified intestinal pseudoobstruction |
| GARD:19586 |
Unclassified myelodysplastic syndrome |
| GARD:19584 |
Unclassified myelodysplastic/myeloproliferative disease |
| GARD:20698 |
Unclassified vasculitis |
| GARD:5404 |
Uncombable hair syndrome |
| GARD:15122 |
Uncombable hair syndrome 1 |
| GARD:16216 |
Uncombable hair syndrome 2 |
| GARD:16217 |
Uncombable hair syndrome 3 |
| GARD:19840 |
Undetermined colitis |
| GARD:21742 |
Undifferentiated carcinoma of esophagus |
| GARD:21788 |
Undifferentiated carcinoma of liver and intrahepatic biliary tract |
| GARD:21759 |
Undifferentiated carcinoma of stomach |
| GARD:20480 |
Undifferentiated carcinoma of the corpus uteri |
| GARD:19097 |
Undifferentiated connective tissue syndrome |
| GARD:20145 |
Undifferentiated embryonal sarcoma of the liver |
| GARD:6963 |
Undifferentiated pleomorphic sarcoma |
| GARD:20699 |
Unexplained long-lasting fever/inflammatory syndrome |
| GARD:19831 |
Unexplained periodic fever syndrome |
| GARD:21462 |
Unexplained periodic fever syndrome of childhood |
| GARD:6005 |
Unicentric Castleman disease |
| GARD:20179 |
Unicervical bicornuate uterus |
| GARD:20173 |
Unilateral aplasia of the Müllerian ducts |
| GARD:19179 |
Unilateral congenital megacalycosis |
| GARD:20981 |
Unilateral focal polymicrogyria |
| GARD:19777 |
Unilateral hemispheric polymicrogyria |
| GARD:19375 |
Unilateral multicystic dysplastic kidney |
| GARD:20980 |
Unilateral polymicrogyria |
| GARD:20918 |
Uniparental disomy of chromosome X |
| GARD:19269 |
Univentricular cardiopathy |
| GARD:18725 |
Univentricular heart |
| GARD:19155 |
Unspecified juvenile idiopathic arthritis |
| GARD:20764 |
Unspecified mitochondrial disorder |
| GARD:19670 |
Unstable hemoglobin disease |
| GARD:5421 |
Upington disease |
| GARD:16602 |
Upper limb defect-eye and ear abnormalities syndrome |
| GARD:21212 |
Upper limb hypertrophy |
| GARD:2408 |
Upper limb mesomelic dysplasia |
| GARD:20957 |
Upper thoracic spina bifida aperta |
| GARD:20964 |
Upper thoracic spina bifida cystica |
| GARD:9376 |
Upper tract urothelial carcinoma |
| GARD:5425 |
Urachal cyst |
| GARD:21800 |
Urachal diverticulum |
| GARD:21799 |
Urachal sinus |
| GARD:5426 |
Urban-Rogers-Meyer syndrome |
| GARD:19246 |
Uremic pruritus |
| GARD:8539 |
Urocanic aciduria |
| GARD:15907 |
Urofacial syndrome 2 |
| GARD:19029 |
Urogenital tract malformation |
| GARD:7843 |
Usher syndrome |
| GARD:5435 |
Usher syndrome type 1 |
| GARD:5440 |
Usher syndrome type 2 |
| GARD:5442 |
Usher syndrome type 3 |
| GARD:16370 |
Usher syndrome, type 1m |
| GARD:5436 |
Usher syndrome, type i |
| GARD:5437 |
Usher syndrome, type ic |
| GARD:5438 |
Usher syndrome, type id |
| GARD:5439 |
Usher syndrome, type ie |
| GARD:10043 |
Usher syndrome, type if |
| GARD:15404 |
Usher syndrome, type ig |
| GARD:15573 |
Usher syndrome, type ih |
| GARD:15241 |
Usher syndrome, type iia |
| GARD:8497 |
Usher syndrome, type iic |
| GARD:15514 |
Usher syndrome, type iid |
| GARD:15242 |
Usher syndrome, type iiia |
| GARD:15813 |
Usher syndrome, type iiib |
| GARD:15863 |
Usher syndrome, type ij |
| GARD:15890 |
Usher syndrome, type ik |
| GARD:20186 |
Uterine cervical aplasia and agenesis |
| GARD:20184 |
Uterine hypoplasia |
| GARD:20170 |
Uterovaginal malformation |
| GARD:15320 |
Uv-sensitive syndrome 1 |
| GARD:15827 |
Uv-sensitive syndrome 2 |
| GARD:15828 |
Uv-sensitive syndrome 3 |
| GARD:1440 |
Uveal coloboma-cleft lip and palate-intellectual disability |
| GARD:8621 |
Uveal melanoma |
| GARD:19549 |
Uveitis |
| GARD:272 |
VACTERL with hydrocephalus |
| GARD:5443 |
VACTERL/VATER association |
| GARD:15001 |
VEXAS syndrome |
| GARD:3787 |
VIPoma |
| GARD:17837 |
VPS11-related autosomal recessive hypomyelinating leukodystrophy |
| GARD:15309 |
Vacterl association, x-linked, with or without hydrocephalus |
| GARD:16770 |
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates |
| GARD:18867 |
Vaginal atresia |
| GARD:9348 |
Vaginal carcinoma |
| GARD:19622 |
Valvular pulmonary stenosis |
| GARD:5453 |
Van den Bosch syndrome |
| GARD:3382 |
Van den Ende-Gupta syndrome |
| GARD:8414 |
Van der Woude syndrome |
| GARD:15370 |
Van der woude syndrome 1, modifier of |
| GARD:7846 |
Van der woude syndrome 2 |
| GARD:15984 |
Van maldergem syndrome 2 |
| GARD:21894 |
Variably protease-sensitive prionopathy |
| GARD:21382 |
Variant ABeta2M amyloidosis |
| GARD:9550 |
Variant Creutzfeldt-Jakob disease |
| GARD:20611 |
Variant of Guillain-Barré syndrome |
| GARD:15243 |
Vas deferens, congenital bilateral aplasia of |
| GARD:15279 |
Vas deferens, congenital bilateral aplasia of, x-linked |
| GARD:2082 |
Vascular Ehlers-Danlos syndrome |
| GARD:18894 |
Vascular anomaly or angioma |
| GARD:21913 |
Vascular tumor with associated anomalies |
| GARD:18844 |
Vasculitis |
| GARD:12383 |
Vasculitis due to ADA2 deficiency |
| GARD:21533 |
Vasoproliferative tumor of the retina |
| GARD:22223 |
Vegetative pyoderma gangrenosum |
| GARD:5467 |
Vein of Galen aneurysmal malformation |
| GARD:5469 |
Velo-facial-skeletal syndrome |
| GARD:15123 |
Velocardiofacial syndrome |
| GARD:21413 |
Venezuelan hemorrhagic fever |
| GARD:21536 |
Venous thoracic outlet syndrome |
| GARD:22051 |
Ventilator-induced diaphragmatic dysfunction |
| GARD:5472 |
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome |
| GARD:15596 |
Ventricular fibrillation, paroxysmal familial, 2 |
| GARD:15535 |
Ventricular tachycardia, catecholaminergic polymorphic, 2 |
| GARD:15744 |
Ventricular tachycardia, catecholaminergic polymorphic, 3 |
| GARD:15880 |
Ventricular tachycardia, catecholaminergic polymorphic, 4 |
| GARD:17757 |
Ventriculomegaly-cystic kidney disease |
| GARD:5482 |
Verloove Vanhorick-Brubakk syndrome |
| GARD:7854 |
Vernal keratoconjunctivitis |
| GARD:21927 |
Verrucous hemangioma |
| GARD:19020 |
Verrucous nevus |
| GARD:18508 |
Vertebral, cardiac, renal, and limb defects syndrome 1 |
| GARD:18509 |
Vertebral, cardiac, renal, and limb defects syndrome 2 |
| GARD:18510 |
Vertebral, cardiac, renal, and limb defects syndrome 3 |
| GARD:5508 |
Very long chain acyl-CoA dehydrogenase deficiency |
| GARD:18418 |
Vesicoureteral reflux 1 |
| GARD:18419 |
Vesicoureteral reflux 2 |
| GARD:18420 |
Vesicoureteral reflux 3 |
| GARD:18421 |
Vesicoureteral reflux 4 |
| GARD:18422 |
Vesicoureteral reflux 5 |
| GARD:18423 |
Vesicoureteral reflux 6 |
| GARD:18424 |
Vesicoureteral reflux 7 |
| GARD:18425 |
Vesicoureteral reflux 8 |
| GARD:223 |
Vestibular schwannoma |
| GARD:17901 |
Vibratory angioedema |
| GARD:9806 |
Vibratory urticaria |
| GARD:448 |
Vici syndrome |
| GARD:5494 |
Viral hemorrhagic fever |
| GARD:20377 |
Viral myositis |
| GARD:20592 |
Virus-associated trichodysplasia spinulosa |
| GARD:21071 |
Visceral calciphylaxis |
| GARD:19392 |
Visceral malformation of the liver, biliary tract, pancreas or spleen |
| GARD:16446 |
Visceral myopathy 2 |
| GARD:18923 |
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome |
| GARD:12062 |
Visual snow syndrome |
| GARD:19464 |
Vitamin B12- and folate-independent constitutional megaloblastic anemia |
| GARD:12623 |
Vitamin B12-responsive methylmalonic acidemia |
| GARD:5500 |
Vitamin B12-responsive methylmalonic acidemia type cblA |
| GARD:9479 |
Vitamin B12-responsive methylmalonic acidemia type cblB |
| GARD:17391 |
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 |
| GARD:3586 |
Vitamin B12-unresponsive methylmalonic acidemia |
| GARD:16714 |
Vitamin B12-unresponsive methylmalonic acidemia type mut- |
| GARD:17335 |
Vitamin B12-unresponsive methylmalonic acidemia type mut0 |
| GARD:8580 |
Vitamin K antagonist embryofetopathy |
| GARD:18636 |
Vitamin d hydroxylation-deficient rickets, type 1a |
| GARD:18415 |
Vitamin d hydroxylation-deficient rickets, type 1b |
| GARD:18169 |
Vitamin d-dependent rickets, type 2a |
| GARD:18170 |
Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor |
| GARD:18171 |
Vitamin d-dependent rickets, type 3 |
| GARD:18195 |
Vitamin k-dependent clotting factors, combined deficiency of, 1 |
| GARD:18196 |
Vitamin k-dependent clotting factors, combined deficiency of, 2 |
| GARD:19539 |
Vitreoretinopathy |
| GARD:1887 |
Vocal cord and pharyngeal distal myopathy |
| GARD:7862 |
Vogt-Koyanagi-Harada disease |
| GARD:7855 |
Von Hippel-Lindau disease |
| GARD:1894 |
Von Voss-Cherstvoy syndrome |
| GARD:7867 |
Von Willebrand disease |
| GARD:17019 |
Von Willebrand disease type 1 |
| GARD:17020 |
Von Willebrand disease type 2 |
| GARD:17021 |
Von Willebrand disease type 2A |
| GARD:17022 |
Von Willebrand disease type 2B |
| GARD:17023 |
Von Willebrand disease type 2M |
| GARD:17024 |
Von Willebrand disease type 2N |
| GARD:17025 |
Von Willebrand disease type 3 |
| GARD:16467 |
Vulto-van silfhout-de vries syndrome |
| GARD:22007 |
Vulvar adenocarcinoma |
| GARD:22006 |
Vulvar basal cell carcinoma |
| GARD:9349 |
Vulvar carcinoma |
| GARD:19876 |
Vulvar intraepithelial neoplasia |
| GARD:22005 |
Vulvar squamous cell carcinoma |
| GARD:19037 |
Vulvovaginal gingival syndrome |
| GARD:20348 |
Vulvovaginal rhabdomyosarcoma |
| GARD:358 |
W syndrome |
| GARD:17838 |
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome |
| GARD:5528 |
WAGR syndrome |
| GARD:18012 |
WARS2-related combined oxidative phosphorylation defect |
| GARD:9297 |
WHIM syndrome |
| GARD:39 |
WT limb-blood syndrome |
| GARD:5525 |
Waardenburg syndrome |
| GARD:5519 |
Waardenburg syndrome type 1 |
| GARD:5520 |
Waardenburg syndrome type 2 |
| GARD:5523 |
Waardenburg syndrome type 3 |
| GARD:5522 |
Waardenburg syndrome, type 2b |
| GARD:15396 |
Waardenburg syndrome, type 2c |
| GARD:15444 |
Waardenburg syndrome, type 2d |
| GARD:15521 |
Waardenburg syndrome, type 2e |
| GARD:15245 |
Waardenburg syndrome, type 4a |
| GARD:15641 |
Waardenburg syndrome, type 4b |
| GARD:15642 |
Waardenburg syndrome, type 4c |
| GARD:5524 |
Waardenburg-Shah syndrome |
| GARD:7871 |
Wagner disease |
| GARD:7872 |
Waldenström macroglobulinemia |
| GARD:2599 |
Walker-Warburg syndrome |
| GARD:15780 |
Warburg micro syndrome 2 |
| GARD:15778 |
Warburg micro syndrome 3 |
| GARD:15998 |
Warburg micro syndrome 4 |
| GARD:15007 |
Warburg-Cinotti syndrome |
| GARD:13708 |
Warsaw breakage syndrome |
| GARD:22300 |
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome |
| GARD:18899 |
Warty dyskeratoma |
| GARD:9449 |
Waterhouse-Friderichsen syndrome |
| GARD:7878 |
Weaver syndrome |
| GARD:5545 |
Weaver-Williams syndrome |
| GARD:4936 |
Weill-Marchesani syndrome |
| GARD:15246 |
Weill-marchesani syndrome 1 |
| GARD:15428 |
Weill-marchesani syndrome 2 |
| GARD:15844 |
Weill-marchesani syndrome 3 |
| GARD:5232 |
Weismann-Netter syndrome |
| GARD:21120 |
Well-differentiated fetal adenocarcinoma of the lung |
| GARD:19721 |
Well-differentiated liposarcoma |
| GARD:20895 |
Well-differentiated thymic neuroendocrine carcinoma |
| GARD:329 |
Wells syndrome |
| GARD:7885 |
Werner syndrome |
| GARD:15483 |
West nile virus, susceptibility to |
| GARD:9959 |
West-Nile encephalitis |
| GARD:7888 |
Western equine encephalitis |
| GARD:7889 |
Whipple disease |
| GARD:10024 |
Whistling face syndrome, recessive form |
| GARD:20587 |
White fibrous papulosis of the neck |
| GARD:10081 |
White forelock with malformations |
| GARD:5560 |
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome |
| GARD:9282 |
White platelet syndrome |
| GARD:8501 |
White sponge nevus |
| GARD:16012 |
White sponge nevus 2 |
| GARD:13774 |
White-Sutton syndrome |
| GARD:8692 |
Whooping cough |
| GARD:330 |
Wiedemann-Rautenstrauch syndrome |
| GARD:5565 |
Wiedemann-Steiner syndrome |
| GARD:19065 |
Wild type ABeta2M amyloidosis |
| GARD:21501 |
Wild type ATTR amyloidosis |
| GARD:5569 |
Wildervanck syndrome |
| GARD:7891 |
Williams syndrome |
| GARD:21731 |
Williams-Campbell syndrome |
| GARD:15124 |
Wilms tumor 1 |
| GARD:8559 |
Wilms tumor 2 |
| GARD:15125 |
Wilms tumor 3 |
| GARD:15328 |
Wilms tumor 4 |
| GARD:15336 |
Wilms tumor 5 |
| GARD:16162 |
Wilms tumor 6 |
| GARD:15559 |
Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome |
| GARD:7893 |
Wilson disease |
| GARD:5579 |
Wilson-Turner syndrome |
| GARD:7894 |
Winchester syndrome |
| GARD:7895 |
Wiskott-Aldrich syndrome |
| GARD:15809 |
Wiskott-aldrich syndrome 2 |
| GARD:15325 |
Wiskott-aldrich syndrome, autosomal dominant |
| GARD:22043 |
Witteveen-Kolk syndrome |
| GARD:5589 |
Wolcott-Rallison syndrome |
| GARD:7896 |
Wolf-Hirschhorn syndrome |
| GARD:7898 |
Wolfram syndrome |
| GARD:15374 |
Wolfram syndrome 2 |
| GARD:15313 |
Wolfram syndrome, mitochondrial form |
| GARD:17683 |
Wolfram-like syndrome |
| GARD:7899 |
Wolman disease |
| GARD:5592 |
Woodhouse-Sakati syndrome |
| GARD:5597 |
Woolly hair |
| GARD:13025 |
Woolly hair nevus |
| GARD:16157 |
Woolly hair, autosomal recessive 3 |
| GARD:17697 |
Woolly hair-palmoplantar keratoderma syndrome |
| GARD:10290 |
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia |
| GARD:5598 |
Worster-Drought syndrome |
| GARD:20149 |
Wound botulism |
| GARD:20065 |
Wound myiasis |
| GARD:273 |
Wrinkly skin syndrome |
| GARD:7900 |
Wyburn-Mason syndrome |
| GARD:20914 |
X and Y chromosomal anomaly |
| GARD:20907 |
X chromosome number anomaly |
| GARD:20908 |
X chromosome number anomaly with female phenotype |
| GARD:20909 |
X chromosome number anomaly with male phenotype |
| GARD:19345 |
X small rings |
| GARD:16774 |
X-linked Alport syndrome |
| GARD:2432 |
X-linked Alport syndrome-diffuse leiomyomatosis |
| GARD:12444 |
X-linked Charcot-Marie-Tooth disease |
| GARD:1258 |
X-linked Charcot-Marie-Tooth disease type 1 |
| GARD:1243 |
X-linked Charcot-Marie-Tooth disease type 2 |
| GARD:1244 |
X-linked Charcot-Marie-Tooth disease type 3 |
| GARD:1240 |
X-linked Charcot-Marie-Tooth disease type 4 |
| GARD:114 |
X-linked Charcot-Marie-Tooth disease type 5 |
| GARD:12445 |
X-linked Charcot-Marie-Tooth disease type 6 |
| GARD:8505 |
X-linked Ehlers-Danlos syndrome |
| GARD:2102 |
X-linked Emery-Dreifuss muscular dystrophy |
| GARD:17370 |
X-linked acrogigantism |
| GARD:555 |
X-linked adrenal hypoplasia congenita |
| GARD:5758 |
X-linked adrenoleukodystrophy |
| GARD:1033 |
X-linked agammaglobulinemia |
| GARD:1058 |
X-linked calvarial hyperostosis |
| GARD:17499 |
X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| GARD:11925 |
X-linked centronuclear myopathy |
| GARD:20665 |
X-linked cerebellar ataxia |
| GARD:9412 |
X-linked cerebral adrenoleukodystrophy |
| GARD:17006 |
X-linked cerebral-cerebellar-coloboma syndrome |
| GARD:1394 |
X-linked cleft palate and ankyloglossia |
| GARD:17709 |
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome |
| GARD:19599 |
X-linked complex spastic paraplegia |
| GARD:12526 |
X-linked complicated corpus callosum dysgenesis |
| GARD:12525 |
X-linked complicated spastic paraplegia type 1 |
| GARD:16782 |
X-linked cone dysfunction syndrome with myopia |
| GARD:2863 |
X-linked congenital generalized hypertrichosis |
| GARD:2580 |
X-linked corneal dermoid |
| GARD:1608 |
X-linked creatine transporter deficiency |
| GARD:21724 |
X-linked distal hereditary motor neuropathy |
| GARD:16957 |
X-linked distal spinal muscular atrophy type 3 |
| GARD:6189 |
X-linked dominant chondrodysplasia punctata |
| GARD:17007 |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
| GARD:17574 |
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia |
| GARD:10533 |
X-linked dystonia-parkinsonism |
| GARD:17339 |
X-linked endothelial corneal dystrophy |
| GARD:16748 |
X-linked epilepsy-learning disabilities-behavior disorders syndrome |
| GARD:17755 |
X-linked erythropoietic protoporphyria |
| GARD:17926 |
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome |
| GARD:13638 |
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability |
| GARD:12731 |
X-linked hereditary sensory and autonomic neuropathy with deafness |
| GARD:73 |
X-linked hyper-IgM syndrome |
| GARD:10427 |
X-linked hypohidrotic ectodermal dysplasia |
| GARD:12943 |
X-linked hypophosphatemia |
| GARD:21109 |
X-linked ichthyosis syndrome |
| GARD:10907 |
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
| GARD:274 |
X-linked immunoneurologic disorder |
| GARD:17581 |
X-linked intellectual disability due to GRIA3 mutations |
| GARD:16677 |
X-linked intellectual disability with isolated growth hormone deficiency |
| GARD:9157 |
X-linked intellectual disability, Abidi type |
| GARD:16742 |
X-linked intellectual disability, Armfield type |
| GARD:13244 |
X-linked intellectual disability, Cabezas type |
| GARD:16743 |
X-linked intellectual disability, Cantagrel type |
| GARD:20054 |
X-linked intellectual disability, Cilliers type |
| GARD:19241 |
X-linked intellectual disability, Golabi-Ito-Hall type |
| GARD:16834 |
X-linked intellectual disability, Hedera type |
| GARD:9984 |
X-linked intellectual disability, Miles-Carpenter type |
| GARD:12669 |
X-linked intellectual disability, Najm type |
| GARD:17005 |
X-linked intellectual disability, Nascimento type |
| GARD:19056 |
X-linked intellectual disability, Pai type |
| GARD:19239 |
X-linked intellectual disability, Porteous type |
| GARD:9288 |
X-linked intellectual disability, Schimke type |
| GARD:19057 |
X-linked intellectual disability, Seemanova type |
| GARD:4119 |
X-linked intellectual disability, Shashi type |
| GARD:16751 |
X-linked intellectual disability, Shrimpton type |
| GARD:9704 |
X-linked intellectual disability, Siderius type |
| GARD:5615 |
X-linked intellectual disability, Snyder type |
| GARD:19058 |
X-linked intellectual disability, Stevenson type |
| GARD:1133 |
X-linked intellectual disability, Stocco Dos Santos type |
| GARD:19059 |
X-linked intellectual disability, Stoll type |
| GARD:19242 |
X-linked intellectual disability, Sutherland-Haan type |
| GARD:17008 |
X-linked intellectual disability, Van Esch type |
| GARD:16747 |
X-linked intellectual disability, Wilson type |
| GARD:8520 |
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome |
| GARD:19060 |
X-linked intellectual disability-acromegaly-hyperactivity syndrome |
| GARD:19063 |
X-linked intellectual disability-ataxia-apraxia syndrome |
| GARD:17485 |
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome |
| GARD:9947 |
X-linked intellectual disability-cerebellar hypoplasia syndrome |
| GARD:17815 |
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome |
| GARD:17009 |
X-linked intellectual disability-craniofacioskeletal syndrome |
| GARD:16745 |
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome |
| GARD:4482 |
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome |
| GARD:16584 |
X-linked intellectual disability-epilepsy syndrome |
| GARD:19054 |
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome |
| GARD:17872 |
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome |
| GARD:19053 |
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome |
| GARD:345 |
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome |
| GARD:16752 |
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome |
| GARD:12715 |
X-linked intellectual disability-hypotonia-movement disorder syndrome |
| GARD:21752 |
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome |
| GARD:19055 |
X-linked intellectual disability-macrocephaly-macroorchidism syndrome |
| GARD:2765 |
X-linked intellectual disability-plagiocephaly syndrome |
| GARD:3506 |
X-linked intellectual disability-psychosis-macroorchidism syndrome |
| GARD:8360 |
X-linked intellectual disability-retinitis pigmentosa syndrome |
| GARD:5238 |
X-linked intellectual disability-seizures-psoriasis syndrome |
| GARD:17800 |
X-linked intellectual disability-short stature-overweight syndrome |
| GARD:21990 |
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome |
| GARD:4573 |
X-linked lethal multiple pterygium syndrome |
| GARD:12491 |
X-linked lissencephaly with abnormal genitalia |
| GARD:10915 |
X-linked lymphoproliferative disease |
| GARD:7906 |
X-linked lymphoproliferative disease due to SH2D1A deficiency |
| GARD:10916 |
X-linked lymphoproliferative disease due to XIAP deficiency |
| GARD:1002 |
X-linked mandibulofacial dysostosis |
| GARD:17464 |
X-linked mendelian susceptibility to mycobacterial diseases |
| GARD:17465 |
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency |
| GARD:12915 |
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency |
| GARD:17721 |
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome |
| GARD:3892 |
X-linked myopathy with excessive autophagy |
| GARD:17081 |
X-linked myopathy with postural muscle atrophy |
| GARD:17792 |
X-linked myotubular myopathy-abnormal genitalia syndrome |
| GARD:19061 |
X-linked neurodegenerative syndrome, Bertini type |
| GARD:19062 |
X-linked neurodegenerative syndrome, Hamel type |
| GARD:17439 |
X-linked non progressive cerebellar ataxia |
| GARD:18640 |
X-linked non-syndromic intellectual disability |
| GARD:16790 |
X-linked non-syndromic sensorineural deafness type DFN |
| GARD:17614 |
X-linked osteoporosis with fractures |
| GARD:17567 |
X-linked parkinsonism-spasticity syndrome |
| GARD:16558 |
X-linked progressive cerebellar ataxia |
| GARD:21428 |
X-linked pure spastic paraplegia |
| GARD:8471 |
X-linked recessive ocular albinism |
| GARD:16756 |
X-linked reticulate pigmentary disorder |
| GARD:4680 |
X-linked retinal dysplasia |
| GARD:4690 |
X-linked retinoschisis |
| GARD:7608 |
X-linked scapuloperoneal muscular dystrophy |
| GARD:3981 |
X-linked severe congenital neutropenia |
| GARD:22490 |
X-linked severe syndromic thoracic aortic aneurysm and dissection |
| GARD:9456 |
X-linked sideroblastic anemia |
| GARD:668 |
X-linked sideroblastic anemia and spinocerebellar ataxia |
| GARD:3520 |
X-linked skeletal dysplasia-intellectual disability syndrome |
| GARD:9585 |
X-linked spastic paraplegia type 16 |
| GARD:17063 |
X-linked spastic paraplegia type 34 |
| GARD:16622 |
X-linked spasticity-intellectual disability-epilepsy syndrome |
| GARD:9981 |
X-linked spinocerebellar ataxia type 3 |
| GARD:9980 |
X-linked spinocerebellar ataxia type 4 |
| GARD:4979 |
X-linked spondyloepimetaphyseal dysplasia |
| GARD:5176 |
X-linked thrombocytopenia with normal platelets |
| GARD:8591 |
X-linked visceral heterotaxy 1 |
| GARD:424 |
XK aprosencephaly syndrome |
| GARD:2541 |
XY type gonadal dysgenesis-associated anomalies syndrome |
| GARD:21599 |
XYLT1-CDG |
| GARD:5621 |
Xanthinuria type I |
| GARD:5620 |
Xanthinuria type II |
| GARD:13186 |
Xanthoma disseminatum |
| GARD:18613 |
Xanthomatosis, susceptibility to |
| GARD:7910 |
Xeroderma pigmentosum |
| GARD:5630 |
Xeroderma pigmentosum variant |
| GARD:5624 |
Xeroderma pigmentosum, complementation group a |
| GARD:5625 |
Xeroderma pigmentosum, complementation group b |
| GARD:5626 |
Xeroderma pigmentosum, complementation group c |
| GARD:16452 |
Xeroderma pigmentosum, complementation group d |
| GARD:5627 |
Xeroderma pigmentosum, complementation group e |
| GARD:5628 |
Xeroderma pigmentosum, complementation group f |
| GARD:5629 |
Xeroderma pigmentosum, complementation group g |
| GARD:17130 |
Xeroderma pigmentosum-Cockayne syndrome complex |
| GARD:17246 |
Xp21 deletion syndrome |
| GARD:21117 |
Xp22.13p22.2 duplication syndrome |
| GARD:18733 |
Xp22.3 microdeletion syndrome |
| GARD:21369 |
Xq12-q13.3 duplication syndrome |
| GARD:369 |
Xq21 microdeletion syndrome |
| GARD:17955 |
Xq25 microduplication syndrome |
| GARD:17247 |
Xq27.3q28 duplication syndrome |
| GARD:20913 |
Y chromosome number anomaly |
| GARD:7914 |
Yellow fever |
| GARD:184 |
Yellow nail syndrome |
| GARD:348 |
Yolk sac tumor |
| GARD:20733 |
Yolk sac tumor of central nervous system |
| GARD:17421 |
Young adult-onset distal hereditary motor neuropathy |
| GARD:341 |
Young syndrome |
| GARD:16610 |
Young-onset Parkinson disease |
| GARD:331 |
Yunis-Varon syndrome |
| GARD:19354 |
Zebra body myopathy |
| GARD:10582 |
Zechi-Ceide syndrome |
| GARD:7917 |
Zellweger syndrome |
| GARD:18841 |
Zellweger-like syndrome without peroxisomal anomalies |
| GARD:12894 |
Zika virus disease |
| GARD:385 |
Zimmermann-Laband syndrome |
| GARD:15071 |
Zimmermann-laband syndrome 1 |
| GARD:16115 |
Zimmermann-laband syndrome 2 |
| GARD:16371 |
Zimmermann-laband syndrome 3 |
| GARD:21825 |
Zinc-responsive necrolytic acral erythema |
| GARD:7918 |
Zollinger-Ellison syndrome |
| GARD:17357 |
Zygodactyly type 1 |
| GARD:21214 |
Zygodactyly type 2 |
| GARD:21215 |
Zygodactyly type 3 |
| GARD:21216 |
Zygodactyly type 4 |
| GARD:10224 |
Zygomycosis |
| GARD:10574 |
Åland Islands eye disease |