| ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
| MONDO:0958281 |
mitochondrial complex v (atp synthase) deficiency nuclear type 4 |
DOID:0060333 |
MONDO:equivalentTo |
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
|
MONDO:0014471 |
| MONDO:0958318 |
chronic inflammatory demyelinating polyneuritis |
DOID:2536 |
MONDO:equivalentTo |
chronic inflammatory demyelinating polyneuritis |
|
MONDO:0002336 |
| MONDO:0958319 |
congenital kyphosis |
DOID:4668 |
MONDO:equivalentTo |
congenital kyphosis |
|
|
| MONDO:0958320 |
postural kyphosis |
DOID:9373 |
MONDO:equivalentTo |
postural kyphosis |
|
|
| MONDO:0958359 |
childhood spinal muscular atrophy |
DOID:0060160 |
MONDO:equivalentTo |
childhood spinal muscular atrophy |
|
MONDO:0001516 |
| MONDO:0958360 |
cholesterol-ester transfer protein deficiency |
DOID:0111368 |
MONDO:equivalentTo |
cholesterol-ester transfer protein deficiency |
|
MONDO:0002525 |
| MONDO:0968993 |
aleutian mink disease |
DOID:2934 |
MONDO:equivalentTo |
aleutian mink disease |
|
MONDO:0005108 |
| MONDO:0968994 |
borna disease |
DOID:5154 |
MONDO:equivalentTo |
borna disease |
|
MONDO:0005108,MONDO:0002602 |
| MONDO:0970991 |
papilledema |
DOID:146 |
MONDO:equivalentTo |
papilledema |
|
MONDO:0002135 |
| MONDO:0971183 |
autosomal recessive pseudohypoaldosteronism type 1 |
DOID:0060854 |
MONDO:equivalentTo |
autosomal recessive pseudohypoaldosteronism type 1 |
|
MONDO:0018638,MONDO:0006025 |
| MONDO:0975707 |
idiopathic pulmonary fibrosis |
DOID:0050156 |
MONDO:equivalentTo |
idiopathic pulmonary fibrosis |
A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. |
MONDO:0002771,MONDO:0000426 |
| MONDO:0975708 |
dialysis disequilibrium syndrome |
DOID:0070564 |
MONDO:equivalentTo |
dialysis disequilibrium syndrome |
|
MONDO:0002254 |
| MONDO:0975763 |
digenic dyskeratosis congenita |
DOID:0060984 |
MONDO:equivalentTo |
digenic dyskeratosis congenita |
|
MONDO:0015780 |
| MONDO:0975764 |
preaxial polydactyly type iv |
DOID:0060985 |
MONDO:equivalentTo |
preaxial polydactyly type IV |
|
MONDO:0021003,MONDO:0000426 |
| MONDO:0975765 |
preaxial polydactyly ii |
DOID:0060986 |
MONDO:equivalentTo |
preaxial polydactyly II |
|
MONDO:0000426,MONDO:0021003 |
| MONDO:0975766 |
preaxial polydactyly i |
DOID:0060987 |
MONDO:equivalentTo |
preaxial polydactyly I |
|
MONDO:0021003,MONDO:0006025 |
| MONDO:0975767 |
pancreatic agenesis 2 |
DOID:0060988 |
MONDO:equivalentTo |
pancreatic agenesis 2 |
|
MONDO:0009832,MONDO:0006025 |
| MONDO:0975768 |
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 |
DOID:0060989 |
MONDO:equivalentTo |
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 |
|
MONDO:0002254,MONDO:0000426 |
| MONDO:0975769 |
congenital disorder of deglycosylation |
DOID:0060991 |
MONDO:equivalentTo |
congenital disorder of deglycosylation |
A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. |
MONDO:0019214 |
| MONDO:0975770 |
bent bone dysplasia syndrome 1 |
DOID:0060992 |
MONDO:equivalentTo |
bent bone dysplasia syndrome 1 |
|
MONDO:0000833,MONDO:0000426 |
| MONDO:0975771 |
bent bone dysplasia syndrome 2 |
DOID:0060993 |
MONDO:equivalentTo |
bent bone dysplasia syndrome 2 |
|
MONDO:0000833,MONDO:0006025 |
| MONDO:0975772 |
encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
DOID:0060994 |
MONDO:equivalentTo |
encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
|
MONDO:0002254,MONDO:0006025 |
| MONDO:0975773 |
intellectual disability and myopathy syndrome |
DOID:0070600 |
MONDO:equivalentTo |
intellectual disability and myopathy syndrome |
|
MONDO:0002254 |
| MONDO:0975774 |
autosomal dominant nonsyndromic deafness 37 |
DOID:0070601 |
MONDO:equivalentTo |
autosomal dominant nonsyndromic deafness 37 |
|
MONDO:0019587 |
| MONDO:0975775 |
autosomal dominant nonsyndromic deafness 80 |
DOID:0070602 |
MONDO:equivalentTo |
autosomal dominant nonsyndromic deafness 80 |
|
MONDO:0019587 |
| MONDO:0975776 |
autosomal dominant nonsyndromic deafness 82 |
DOID:0070603 |
MONDO:equivalentTo |
autosomal dominant nonsyndromic deafness 82 |
|
MONDO:0019587 |
| MONDO:0975777 |
autosomal dominant nonsyndromic deafness 84 |
DOID:0070604 |
MONDO:equivalentTo |
autosomal dominant nonsyndromic deafness 84 |
|
MONDO:0019587 |
| MONDO:0975778 |
autosomal dominant nonsyndromic deafness 85 |
DOID:0070605 |
MONDO:equivalentTo |
autosomal dominant nonsyndromic deafness 85 |
|
MONDO:0019587 |
| MONDO:0975779 |
autosomal dominant nonsyndromic deafness 87 |
DOID:0070606 |
MONDO:equivalentTo |
autosomal dominant nonsyndromic deafness 87 |
|
MONDO:0019587 |
| MONDO:0975780 |
autosomal dominant nonsyndromic deafness 90 |
DOID:0070607 |
MONDO:equivalentTo |
autosomal dominant nonsyndromic deafness 90 |
|
MONDO:0019587 |
| MONDO:0975781 |
autosomal dominant nonsyndromic deafness 81 |
DOID:0070608 |
MONDO:equivalentTo |
autosomal dominant nonsyndromic deafness 81 |
|
MONDO:0019587 |
| MONDO:0975782 |
autosomal dominant nonsyndromic deafness 83 |
DOID:0070609 |
MONDO:equivalentTo |
autosomal dominant nonsyndromic deafness 83 |
|
MONDO:0019587 |
| MONDO:0975783 |
autosomal dominant nonsyndromic deafness 86 |
DOID:0070610 |
MONDO:equivalentTo |
autosomal dominant nonsyndromic deafness 86 |
|
MONDO:0019587 |
| MONDO:0975784 |
autosomal dominant nonsyndromic deafness 88 |
DOID:0070611 |
MONDO:equivalentTo |
autosomal dominant nonsyndromic deafness 88 |
|
MONDO:0019587 |
| MONDO:0975785 |
autosomal dominant nonsyndromic deafness 89 |
DOID:0070612 |
MONDO:equivalentTo |
autosomal dominant nonsyndromic deafness 89 |
|
MONDO:0019587 |
| MONDO:0975786 |
familial renal glucosuria |
DOID:0070613 |
MONDO:equivalentTo |
familial renal glucosuria |
|
MONDO:0000426,MONDO:0009297,MONDO:0006025 |
| MONDO:0975787 |
chromosome 11 partial duplication syndrome |
DOID:0070614 |
MONDO:equivalentTo |
chromosome 11 partial duplication syndrome |
|
MONDO:0000762 |
| MONDO:0975812 |
sertoli cell-only syndrome |
DOID:0050457 |
MONDO:equivalentTo |
Sertoli cell-only syndrome |
|
MONDO:0005372 |
| MONDO:0975813 |
autosomal dominant isolated macrothrombocytopenia 2 |
DOID:0060995 |
MONDO:equivalentTo |
autosomal dominant isolated macrothrombocytopenia 2 |
|
MONDO:0002049,MONDO:0000426 |
| MONDO:0975814 |
poor metabolism of thiopurines 2 |
DOID:0060996 |
MONDO:equivalentTo |
poor metabolism of thiopurines 2 |
|
MONDO:0012503,MONDO:0000426 |
| MONDO:0975815 |
striatal degeneration 2 |
DOID:0060998 |
MONDO:equivalentTo |
striatal degeneration 2 |
|
MONDO:0007803,MONDO:0000426 |
| MONDO:0975816 |
mitochondrial trifunctional protein deficiency 2 |
DOID:0060999 |
MONDO:equivalentTo |
mitochondrial trifunctional protein deficiency 2 |
|
MONDO:0012172 |
| MONDO:0975817 |
glycine encephalopathy 2 |
DOID:0061001 |
MONDO:equivalentTo |
glycine encephalopathy 2 |
|
MONDO:0011612 |
| MONDO:0975818 |
congenital amegakaryocytic thrombocytopenia 2 |
DOID:0061002 |
MONDO:equivalentTo |
congenital amegakaryocytic thrombocytopenia 2 |
|
MONDO:0800452 |
| MONDO:0975819 |
pancreatic agenesis 1 |
DOID:0061003 |
MONDO:equivalentTo |
pancreatic agenesis 1 |
|
MONDO:0009832,MONDO:0006025 |
| MONDO:0975820 |
poor metabolism of thiopurines 1 |
DOID:0061004 |
MONDO:equivalentTo |
poor metabolism of thiopurines 1 |
|
MONDO:0012503 |
| MONDO:0975821 |
autoinflammation, antibody deficiency, and immune dysregulation syndrome |
DOID:0070615 |
MONDO:equivalentTo |
autoinflammation, antibody deficiency, and immune dysregulation syndrome |
|
MONDO:0003778,MONDO:0000426 |
| MONDO:0975822 |
glycine encephalopathy 1 |
DOID:0070616 |
MONDO:equivalentTo |
glycine encephalopathy 1 |
|
MONDO:0011612 |
| MONDO:0975823 |
rhabdoid tumor predisposition syndrome |
DOID:0070617 |
MONDO:equivalentTo |
rhabdoid tumor predisposition syndrome |
|
MONDO:0002254,MONDO:0000426 |
| MONDO:0975824 |
mitochondrial trifunctional protein deficiency 1 |
DOID:0070619 |
MONDO:equivalentTo |
mitochondrial trifunctional protein deficiency 1 |
|
MONDO:0012172 |
| MONDO:0975850 |
autoinflammatory disease |
DOID:0051000 |
MONDO:equivalentTo |
autoinflammatory disease |
A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation. |
MONDO:0003778 |
| MONDO:0975851 |
congenital amegakaryocytic thrombocytopenia 1 |
DOID:0061005 |
MONDO:equivalentTo |
congenital amegakaryocytic thrombocytopenia 1 |
|
MONDO:0800452 |
| MONDO:0975852 |
advanced sleep phase syndrome 4 |
DOID:0061006 |
MONDO:equivalentTo |
advanced sleep phase syndrome 4 |
|
MONDO:0015609 |
| MONDO:0975853 |
sideroblastic anemia 5 |
DOID:0061007 |
MONDO:equivalentTo |
sideroblastic anemia 5 |
|
MONDO:0015194,MONDO:0006025 |
| MONDO:0975854 |
craniosynostosis 6 |
DOID:0061008 |
MONDO:equivalentTo |
craniosynostosis 6 |
|
MONDO:0015469,MONDO:0000426 |
| MONDO:0975855 |
craniosynostosis 2 |
DOID:0061009 |
MONDO:equivalentTo |
craniosynostosis 2 |
|
MONDO:0015469,MONDO:0000426 |
| MONDO:0975856 |
craniosynostosis 1 |
DOID:0061010 |
MONDO:equivalentTo |
craniosynostosis 1 |
|
MONDO:0015469,MONDO:0000426 |
| MONDO:0975857 |
craniosynostosis 3 |
DOID:0061011 |
MONDO:equivalentTo |
craniosynostosis 3 |
|
MONDO:0015469,MONDO:0000426 |
| MONDO:0975858 |
craniosynostosis 4 |
DOID:0061012 |
MONDO:equivalentTo |
craniosynostosis 4 |
|
MONDO:0015469,MONDO:0000426 |
| MONDO:0975859 |
ovarian dysgenesis 9 |
DOID:0061013 |
MONDO:equivalentTo |
ovarian dysgenesis 9 |
|
MONDO:0009299,MONDO:0006025 |
| MONDO:0975860 |
ovarian dysgenesis 10 |
DOID:0061014 |
MONDO:equivalentTo |
ovarian dysgenesis 10 |
|
MONDO:0009299,MONDO:0006025 |
| MONDO:0975861 |
ring chromosome syndrome |
DOID:0070620 |
MONDO:equivalentTo |
ring chromosome syndrome |
|
MONDO:0019040 |
| MONDO:0975862 |
b-lymphoblastic leukemia with mef2d rearrangement |
DOID:0070623 |
MONDO:equivalentTo |
B-lymphoblastic leukemia with MEF2D rearrangement |
|
MONDO:0004947 |
| MONDO:0975863 |
b-lymphoblastic leukemia with myc rearrangement |
DOID:0070624 |
MONDO:equivalentTo |
B-lymphoblastic leukemia with MYC rearrangement |
|
MONDO:0004947 |
| MONDO:0975864 |
b-lymphoblastic leukemia with nutm1 rearrangement |
DOID:0070625 |
MONDO:equivalentTo |
B-lymphoblastic leukemia with NUTM1 rearrangement |
|
MONDO:0004947 |
| MONDO:0975865 |
b-lymphoblastic leukemia with pax5alt |
DOID:0070626 |
MONDO:equivalentTo |
B-lymphoblastic leukemia with PAX5alt |
|
MONDO:0004947 |
| MONDO:0975866 |
b-lymphoblastic leukemia with tcf3-hlf fusion |
DOID:0070627 |
MONDO:equivalentTo |
B-lymphoblastic leukemia with TCF3-HLF fusion |
|
MONDO:0004947 |
| MONDO:0975867 |
b-lymphoblastic leukemia with znf384 rearrangement |
DOID:0070628 |
MONDO:equivalentTo |
B-lymphoblastic leukemia with ZNF384 rearrangement |
|
MONDO:0004947 |
| MONDO:0975868 |
acute myeloid leukemia with cbfa2t3-glis2 fusion |
DOID:0070629 |
MONDO:equivalentTo |
acute myeloid leukemia with CBFA2T3-GLIS2 fusion |
|
MONDO:0018874 |
| MONDO:0975869 |
acute myeloid leukemia with kat6a-crebbp fusion |
DOID:0070630 |
MONDO:equivalentTo |
acute myeloid leukemia with KAT6A-CREBBP fusion |
|
MONDO:0018874 |
| MONDO:0975870 |
acute myeloid leukemia with fus-erg fusion |
DOID:0070631 |
MONDO:equivalentTo |
acute myeloid leukemia with FUS-ERG fusion |
|
MONDO:0018874 |
| MONDO:0975871 |
acute myeloid leukemia with mnx1-etv6 fusion |
DOID:0070632 |
MONDO:equivalentTo |
acute myeloid leukemia with MNX1-ETV6 fusion |
|
MONDO:0018874 |
| MONDO:0975872 |
acute myeloid leukemia with npm1-mlf1 fusion |
DOID:0070633 |
MONDO:equivalentTo |
acute myeloid leukemia with NPM1-MLF1 fusion |
|
MONDO:0018874 |
| MONDO:0975929 |
congenital dyserythropoietic anemia type iiib |
DOID:0051001 |
MONDO:equivalentTo |
congenital dyserythropoietic anemia type IIIb |
A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. |
MONDO:0019403,MONDO:0006025 |
| MONDO:0975930 |
congenital dyserythropoietic anemia type ivb |
DOID:0051002 |
MONDO:equivalentTo |
congenital dyserythropoietic anemia type IVb |
A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. |
MONDO:0019403 |
| MONDO:0975931 |
congenital nonspherocytic hemolytic anemia 1 |
DOID:0051003 |
MONDO:equivalentTo |
congenital nonspherocytic hemolytic anemia 1 |
A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. |
MONDO:0006506,MONDO:0000425 |
| MONDO:0975932 |
congenital nonspherocytic hemolytic anemia 3 |
DOID:0051004 |
MONDO:equivalentTo |
congenital nonspherocytic hemolytic anemia 3 |
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. |
MONDO:0006506,MONDO:0006025 |
| MONDO:0975933 |
congenital nonspherocytic hemolytic anemia 4 |
DOID:0051005 |
MONDO:equivalentTo |
congenital nonspherocytic hemolytic anemia 4 |
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13. |
MONDO:0006506,MONDO:0006025 |
| MONDO:0975934 |
congenital nonspherocytic hemolytic anemia 5 |
DOID:0051006 |
MONDO:equivalentTo |
congenital nonspherocytic hemolytic anemia 5 |
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22. |
MONDO:0006506,MONDO:0006025 |
| MONDO:0975935 |
congenital nonspherocytic hemolytic anemia 8 |
DOID:0051007 |
MONDO:equivalentTo |
congenital nonspherocytic hemolytic anemia 8 |
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14. |
MONDO:0006506,MONDO:0006025 |
| MONDO:0975936 |
congenital nonspherocytic hemolytic anemia 9 |
DOID:0051008 |
MONDO:equivalentTo |
congenital nonspherocytic hemolytic anemia 9 |
A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11. |
MONDO:0006506,MONDO:0020605 |
| MONDO:0975937 |
congenital nonspherocytic hemolytic anemia 10 |
DOID:0051009 |
MONDO:equivalentTo |
congenital nonspherocytic hemolytic anemia 10 |
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21. |
MONDO:0006506 |
| MONDO:0975938 |
bryant-li-bhoj neurodevelopmental syndrome |
DOID:0051010 |
MONDO:equivalentTo |
Bryant-Li-Bhoj neurodevelopmental syndrome |
An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities. |
MONDO:0015802 |
| MONDO:0975939 |
pseudohypoparathyroidism type 1c |
DOID:0051013 |
MONDO:equivalentTo |
pseudohypoparathyroidism type 1C |
A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13. |
MONDO:0019992 |
| MONDO:0975940 |
female-restricted wieacker-wolff syndrome |
DOID:0061015 |
MONDO:equivalentTo |
female-restricted Wieacker-Wolff syndrome |
|
MONDO:0020604,MONDO:0020119 |
| MONDO:0975941 |
combined or isolated pituitary growth hormone deficiency 7 |
DOID:0061016 |
MONDO:equivalentTo |
combined or isolated pituitary growth hormone deficiency 7 |
|
MONDO:0019591,MONDO:0006025 |
| MONDO:0975942 |
combined pituitary hormone deficiency 4 |
DOID:0061017 |
MONDO:equivalentTo |
combined pituitary hormone deficiency 4 |
|
MONDO:0019591,MONDO:0000426 |
| MONDO:0975943 |
combined or isolated pituitary hormone deficiency 8 |
DOID:0061018 |
MONDO:equivalentTo |
combined or isolated pituitary hormone deficiency 8 |
|
MONDO:0019591,MONDO:0000426 |
| MONDO:0975944 |
combined or isolated pituitary hormone deficiency 1 |
DOID:0061019 |
MONDO:equivalentTo |
combined or isolated pituitary hormone deficiency 1 |
|
MONDO:0019591,MONDO:0006025,MONDO:0000426 |
| MONDO:0975945 |
combined pituitary hormone deficiency 2 |
DOID:0061020 |
MONDO:equivalentTo |
combined pituitary hormone deficiency 2 |
|
MONDO:0019591,MONDO:0006025 |
| MONDO:0975946 |
combined pituitary hormone deficiency 3 |
DOID:0061021 |
MONDO:equivalentTo |
combined pituitary hormone deficiency 3 |
|
MONDO:0019591,MONDO:0006025 |
| MONDO:0975947 |
combined pituitary hormone deficiency 6 |
DOID:0061022 |
MONDO:equivalentTo |
combined pituitary hormone deficiency 6 |
|
MONDO:0019591,MONDO:0000426 |
| MONDO:0975948 |
nonphotosensitive trichothiodystrophy 8 |
DOID:0061023 |
MONDO:equivalentTo |
nonphotosensitive trichothiodystrophy 8 |
|
MONDO:0009317,MONDO:0006025 |
| MONDO:0975949 |
nonphotosensitive trichothiodystrophy 9 |
DOID:0061024 |
MONDO:equivalentTo |
nonphotosensitive trichothiodystrophy 9 |
|
MONDO:0009317,MONDO:0006025 |
| MONDO:0975961 |
adult onset demyelinating leukodystrophy |
DOID:0051015 |
MONDO:equivalentTo |
adult onset demyelinating leukodystrophy |
A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. |
MONDO:0019046 |
| MONDO:0975962 |
visceral heterotaxy 1 |
DOID:0051016 |
MONDO:equivalentTo |
visceral heterotaxy 1 |
|
MONDO:0020605,MONDO:0018677 |
| MONDO:0975963 |
visceral heterotaxy 2 |
DOID:0051017 |
MONDO:equivalentTo |
visceral heterotaxy 2 |
|
MONDO:0000426,MONDO:0018677 |
| MONDO:0975964 |
visceral heterotaxy 3 |
DOID:0051018 |
MONDO:equivalentTo |
visceral heterotaxy 3 |
|
MONDO:0018677 |
| MONDO:0975965 |
visceral heterotaxy 4 |
DOID:0051019 |
MONDO:equivalentTo |
visceral heterotaxy 4 |
|
MONDO:0018677 |
| MONDO:0975966 |
visceral heterotaxy 6 |
DOID:0051020 |
MONDO:equivalentTo |
visceral heterotaxy 6 |
|
MONDO:0006025,MONDO:0018677 |
| MONDO:0975967 |
visceral heterotaxy 7 |
DOID:0051021 |
MONDO:equivalentTo |
visceral heterotaxy 7 |
|
MONDO:0006025,MONDO:0018677 |
| MONDO:0975968 |
visceral heterotaxy 8 |
DOID:0051022 |
MONDO:equivalentTo |
visceral heterotaxy 8 |
|
MONDO:0006025,MONDO:0018677 |
| MONDO:0975969 |
visceral heterotaxy 9 |
DOID:0051023 |
MONDO:equivalentTo |
visceral heterotaxy 9 |
|
MONDO:0006025,MONDO:0018677 |
| MONDO:0975970 |
visceral heterotaxy 10 |
DOID:0051024 |
MONDO:equivalentTo |
visceral heterotaxy 10 |
|
MONDO:0006025,MONDO:0018677 |
| MONDO:0975971 |
visceral heterotaxy 11 |
DOID:0051025 |
MONDO:equivalentTo |
visceral heterotaxy 11 |
|
MONDO:0006025,MONDO:0018677 |
| MONDO:0975972 |
visceral heterotaxy 12 |
DOID:0051026 |
MONDO:equivalentTo |
visceral heterotaxy 12 |
|
MONDO:0006025,MONDO:0018677 |
| MONDO:0975973 |
visceral heterotaxy 13 |
DOID:0051027 |
MONDO:equivalentTo |
visceral heterotaxy 13 |
|
MONDO:0006025,MONDO:0018677 |
| MONDO:0975974 |
autosomal recessive axonal charcot-marie-tooth disease with vocal cord paresis |
DOID:0051028 |
MONDO:equivalentTo |
autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis |
|
MONDO:0006025,MONDO:0018995 |
| MONDO:0975975 |
mitochondrial dna depletion syndrome-21 |
DOID:0051029 |
MONDO:equivalentTo |
mitochondrial DNA depletion syndrome-21 |
|
MONDO:0018158 |
| MONDO:0975976 |
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia |
DOID:0051030 |
MONDO:equivalentTo |
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia |
|
MONDO:0019502 |
| MONDO:0975977 |
primary autosomal recessive microcephaly 20 |
DOID:0051031 |
MONDO:equivalentTo |
primary autosomal recessive microcephaly 20 |
|
MONDO:0016660 |
| MONDO:0975978 |
primary autosomal recessive microcephaly 21 |
DOID:0051032 |
MONDO:equivalentTo |
primary autosomal recessive microcephaly 21 |
|
MONDO:0016660 |
| MONDO:0975979 |
primary autosomal recessive microcephaly 22 |
DOID:0051033 |
MONDO:equivalentTo |
primary autosomal recessive microcephaly 22 |
|
MONDO:0016660 |
| MONDO:0975980 |
primary autosomal recessive microcephaly 23 |
DOID:0051034 |
MONDO:equivalentTo |
primary autosomal recessive microcephaly 23 |
|
MONDO:0016660 |
| MONDO:0975981 |
primary autosomal recessive microcephaly 24 |
DOID:0051035 |
MONDO:equivalentTo |
primary autosomal recessive microcephaly 24 |
|
MONDO:0016660 |
| MONDO:0975982 |
primary autosomal recessive microcephaly 25 |
DOID:0051036 |
MONDO:equivalentTo |
primary autosomal recessive microcephaly 25 |
|
MONDO:0016660 |
| MONDO:0975985 |
primary autosomal recessive microcephaly 28 |
DOID:0051039 |
MONDO:equivalentTo |
primary autosomal recessive microcephaly 28 |
|
MONDO:0016660 |
| MONDO:0975986 |
primary autosomal recessive microcephaly 29 |
DOID:0051040 |
MONDO:equivalentTo |
primary autosomal recessive microcephaly 29 |
|
MONDO:0016660 |
| MONDO:0975987 |
primary autosomal recessive microcephaly 30 |
DOID:0051041 |
MONDO:equivalentTo |
primary autosomal recessive microcephaly 30 |
|
MONDO:0016660 |
| MONDO:0975988 |
familial restrictive cardiomyopathy 6 |
DOID:0061025 |
MONDO:equivalentTo |
familial restrictive cardiomyopathy 6 |
|
MONDO:0005201,MONDO:0006025 |
| MONDO:0975989 |
hereditary pyropoikilocytosis |
DOID:0061026 |
MONDO:equivalentTo |
hereditary pyropoikilocytosis |
|
MONDO:0003664,MONDO:0006025 |
| MONDO:0975990 |
duane retraction syndrome 1 |
DOID:0061027 |
MONDO:equivalentTo |
Duane retraction syndrome 1 |
|
MONDO:0007473,MONDO:0000426 |
| MONDO:0975991 |
duane retraction syndrome 2 |
DOID:0061028 |
MONDO:equivalentTo |
Duane retraction syndrome 2 |
|
MONDO:0007473,MONDO:0000426 |
| MONDO:0975992 |
duane retraction syndrome 3 |
DOID:0061029 |
MONDO:equivalentTo |
Duane retraction syndrome 3 |
|
MONDO:0007473,MONDO:0000426 |
| MONDO:0975993 |
hemophilia |
DOID:0061030 |
MONDO:equivalentTo |
hemophilia |
|
MONDO:0001531 |
| MONDO:0976140 |
autosomal dominant distal hereditary motor neuronopathy 15 |
DOID:0051042 |
MONDO:equivalentTo |
autosomal dominant distal hereditary motor neuronopathy 15 |
An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. |
MONDO:0015362 |
| MONDO:0976141 |
charcot-marie-tooth disease axonal type 2jj |
DOID:0051043 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease axonal type 2JJ |
A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. |
MONDO:0000426,MONDO:0018993 |
| MONDO:0976142 |
infantile-onset myofibrillar myopathy 12 with cardiomyopathy |
DOID:0051044 |
MONDO:equivalentTo |
infantile-onset myofibrillar myopathy 12 with cardiomyopathy |
A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. |
MONDO:0018943,MONDO:0006025 |
| MONDO:0976143 |
myofibrillar myopathy 13 with rimmed vacuoles |
DOID:0051045 |
MONDO:equivalentTo |
myofibrillar myopathy 13 with rimmed vacuoles |
A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. |
MONDO:0018943,MONDO:0000426 |
| MONDO:0976144 |
spondyloepimetaphyseal dysplasia, li-shao-li type |
DOID:0051046 |
MONDO:equivalentTo |
spondyloepimetaphyseal dysplasia, Li-Shao-Li type |
A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. |
MONDO:0100510 |
| MONDO:0976145 |
congenital disorder of glycosylation type iibb |
DOID:0051047 |
MONDO:equivalentTo |
congenital disorder of glycosylation type IIbb |
A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. |
MONDO:0006025,MONDO:0005501 |
| MONDO:0976146 |
congenital disorder of glycosylation type iir |
DOID:0051048 |
MONDO:equivalentTo |
congenital disorder of glycosylation type IIr |
A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. |
MONDO:0020605,MONDO:0005501 |
| MONDO:0976147 |
congenital disorder of glycosylation type iit |
DOID:0051049 |
MONDO:equivalentTo |
congenital disorder of glycosylation type IIt |
A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. |
MONDO:0006025,MONDO:0005501 |
| MONDO:0976148 |
congenital disorder of glycosylation type iiv |
DOID:0051050 |
MONDO:equivalentTo |
congenital disorder of glycosylation type IIv |
A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. |
MONDO:0006025,MONDO:0005501 |
| MONDO:0976149 |
congenital disorder of glycosylation type iiw |
DOID:0051051 |
MONDO:equivalentTo |
congenital disorder of glycosylation type IIw |
A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. |
MONDO:0000426,MONDO:0005501 |
| MONDO:0976150 |
congenital disorder of glycosylation type iiy |
DOID:0051052 |
MONDO:equivalentTo |
congenital disorder of glycosylation type IIy |
A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. |
MONDO:0006025,MONDO:0005501 |
| MONDO:0976151 |
congenital disorder of glycosylation type iiz |
DOID:0051053 |
MONDO:equivalentTo |
congenital disorder of glycosylation type IIz |
A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. |
MONDO:0006025,MONDO:0005501 |
| MONDO:0976152 |
46,xy gonadal dysgenesis with minifascicular neuropathy |
DOID:0051055 |
MONDO:equivalentTo |
46,XY gonadal dysgenesis with minifascicular neuropathy |
A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). |
MONDO:0001967 |
| MONDO:0976153 |
autosomal dominant intellectual developmental disorder 57 |
DOID:0061031 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 57 |
|
MONDO:0015802 |
| MONDO:0976154 |
autosomal dominant intellectual developmental disorder 58 |
DOID:0061032 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 58 |
|
MONDO:0015802 |
| MONDO:0976155 |
autosomal dominant intellectual developmental disorder 59 |
DOID:0061033 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 59 |
|
MONDO:0015802 |
| MONDO:0976156 |
autosomal dominant intellectual developmental disorder 61 |
DOID:0061034 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 61 |
|
MONDO:0015802 |
| MONDO:0976157 |
autosomal dominant intellectual developmental disorder 62 |
DOID:0061035 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 62 |
|
MONDO:0015802 |
| MONDO:0976158 |
autosomal dominant intellectual developmental disorder 63 with macrocephaly |
DOID:0061036 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 63 with macrocephaly |
|
MONDO:0015802 |
| MONDO:0976159 |
autosomal dominant intellectual developmental disorder 64 |
DOID:0061037 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 64 |
|
MONDO:0015802 |
| MONDO:0976160 |
autosomal dominant intellectual developmental disorder 65 |
DOID:0061038 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 65 |
|
MONDO:0015802 |
| MONDO:0976161 |
autosomal dominant intellectual developmental disorder 66 |
DOID:0061039 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 66 |
|
MONDO:0015802 |
| MONDO:0976162 |
autosomal dominant intellectual developmental disorder 67 |
DOID:0061040 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 67 |
|
MONDO:0015802 |
| MONDO:0976163 |
autosomal dominant intellectual developmental disorder 68 |
DOID:0061041 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 68 |
|
MONDO:0015802 |
| MONDO:0976164 |
autosomal dominant intellectual developmental disorder 69 |
DOID:0061042 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 69 |
|
MONDO:0015802 |
| MONDO:0976165 |
autosomal dominant intellectual developmental disorder 70 |
DOID:0061043 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 70 |
|
MONDO:0015802 |
| MONDO:0976166 |
autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities |
DOID:0061044 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities |
|
MONDO:0015802 |
| MONDO:0976167 |
autosomal dominant intellectual developmental disorder 72 |
DOID:0061045 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 72 |
|
MONDO:0015802 |
| MONDO:0976168 |
autosomal dominant intellectual developmental disorder 73 |
DOID:0061046 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 73 |
|
MONDO:0015802 |
| MONDO:0976169 |
autosomal dominant intellectual developmental disorder 74 |
DOID:0061047 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 74 |
|
MONDO:0015802 |
| MONDO:0976170 |
autosomal dominant intellectual developmental disorder 75 |
DOID:0061048 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 75 |
|
MONDO:0015802 |
| MONDO:0976171 |
autosomal dominant intellectual developmental disorder type fra12a |
DOID:0061049 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder type FRA12A |
|
MONDO:0015802 |
| MONDO:0976172 |
autosomal dominant intellectual developmental disorder 60 with seizures |
DOID:0061050 |
MONDO:equivalentTo |
autosomal dominant intellectual developmental disorder 60 with seizures |
|
MONDO:0015802 |
| MONDO:0976173 |
immunodeficiency 80 |
DOID:0061051 |
MONDO:equivalentTo |
immunodeficiency 80 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976174 |
immunodeficiency 81 |
DOID:0061052 |
MONDO:equivalentTo |
immunodeficiency 81 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976175 |
immunodeficiency 82 |
DOID:0061053 |
MONDO:equivalentTo |
immunodeficiency 82 |
|
MONDO:0003778,MONDO:0000426 |
| MONDO:0976176 |
immunodeficiency 84 |
DOID:0061054 |
MONDO:equivalentTo |
immunodeficiency 84 |
|
MONDO:0003778,MONDO:0000426 |
| MONDO:0976177 |
immunodeficiency 85 |
DOID:0061055 |
MONDO:equivalentTo |
immunodeficiency 85 |
|
MONDO:0003778,MONDO:0000426 |
| MONDO:0976178 |
immunodeficiency 86 |
DOID:0061056 |
MONDO:equivalentTo |
immunodeficiency 86 |
|
MONDO:0001222,MONDO:0006025 |
| MONDO:0976179 |
immunodeficiency 87 |
DOID:0061057 |
MONDO:equivalentTo |
immunodeficiency 87 |
|
MONDO:0001222,MONDO:0006025 |
| MONDO:0976180 |
immunodeficiency 88 |
DOID:0061058 |
MONDO:equivalentTo |
immunodeficiency 88 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976181 |
immunodeficiency 89 |
DOID:0061059 |
MONDO:equivalentTo |
immunodeficiency 89 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976182 |
immunodeficiency 90 |
DOID:0061060 |
MONDO:equivalentTo |
immunodeficiency 90 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976183 |
immunodeficiency 91 |
DOID:0061061 |
MONDO:equivalentTo |
immunodeficiency 91 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976184 |
immunodeficiency 92 |
DOID:0061062 |
MONDO:equivalentTo |
immunodeficiency 92 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976185 |
immunodeficiency 93 |
DOID:0061063 |
MONDO:equivalentTo |
immunodeficiency 93 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976186 |
immunodeficiency 94 |
DOID:0061064 |
MONDO:equivalentTo |
immunodeficiency 94 |
|
MONDO:0003778,MONDO:0000426 |
| MONDO:0976187 |
immunodeficiency 95 |
DOID:0061065 |
MONDO:equivalentTo |
immunodeficiency 95 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976188 |
immunodeficiency 96 |
DOID:0061066 |
MONDO:equivalentTo |
immunodeficiency 96 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976189 |
immunodeficiency 97 |
DOID:0061067 |
MONDO:equivalentTo |
immunodeficiency 97 |
|
MONDO:0850200,MONDO:0006025 |
| MONDO:0976190 |
immunodeficiency 98 |
DOID:0061068 |
MONDO:equivalentTo |
immunodeficiency 98 |
|
MONDO:0015131,MONDO:0020605 |
| MONDO:0976191 |
immunodeficiency 99 |
DOID:0061069 |
MONDO:equivalentTo |
immunodeficiency 99 |
|
MONDO:0015131,MONDO:0006025 |
| MONDO:0976192 |
immunodeficiency 100 |
DOID:0061070 |
MONDO:equivalentTo |
immunodeficiency 100 |
|
MONDO:0005275,MONDO:0003778,MONDO:0000426 |
| MONDO:0976193 |
immunodeficiency 101 |
DOID:0061071 |
MONDO:equivalentTo |
immunodeficiency 101 |
|
MONDO:0003778,MONDO:0000426 |
| MONDO:0976194 |
immunodeficiency 102 |
DOID:0061072 |
MONDO:equivalentTo |
immunodeficiency 102 |
|
MONDO:0850200,MONDO:0020605 |
| MONDO:0976195 |
perrault syndrome 7 |
DOID:0061073 |
MONDO:equivalentTo |
Perrault syndrome 7 |
|
MONDO:0017312 |
| MONDO:0976196 |
severe combined immunodeficiency 105 |
DOID:0061074 |
MONDO:equivalentTo |
severe combined immunodeficiency 105 |
|
MONDO:0015974,MONDO:0006025 |
| MONDO:0976197 |
immunodeficiency 106 |
DOID:0061075 |
MONDO:equivalentTo |
immunodeficiency 106 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976198 |
immunodeficiency 107 |
DOID:0061076 |
MONDO:equivalentTo |
immunodeficiency 107 |
|
MONDO:0005275,MONDO:0003778,MONDO:0000426 |
| MONDO:0976199 |
immunodeficiency 108 |
DOID:0061077 |
MONDO:equivalentTo |
immunodeficiency 108 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976200 |
immunodeficiency 109 |
DOID:0061078 |
MONDO:equivalentTo |
immunodeficiency 109 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976201 |
immunodeficiency 112 |
DOID:0061079 |
MONDO:equivalentTo |
immunodeficiency 112 |
|
MONDO:0006025 |
| MONDO:0976202 |
immunodeficiency 114 |
DOID:0061080 |
MONDO:equivalentTo |
immunodeficiency 114 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976203 |
immunodeficiency 115 |
DOID:0061081 |
MONDO:equivalentTo |
immunodeficiency 115 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976204 |
immunodeficiency 116 |
DOID:0061082 |
MONDO:equivalentTo |
immunodeficiency 116 |
|
MONDO:0001222,MONDO:0006025 |
| MONDO:0976205 |
immunodeficiency 117 |
DOID:0061083 |
MONDO:equivalentTo |
immunodeficiency 117 |
|
MONDO:0850200,MONDO:0006025 |
| MONDO:0976206 |
immunodeficiency 118 |
DOID:0061084 |
MONDO:equivalentTo |
immunodeficiency 118 |
|
MONDO:0003778,MONDO:0020605 |
| MONDO:0976207 |
immunodeficiency 119 |
DOID:0061085 |
MONDO:equivalentTo |
immunodeficiency 119 |
|
MONDO:0006025 |
| MONDO:0976208 |
immunodeficiency 120 |
DOID:0061086 |
MONDO:equivalentTo |
immunodeficiency 120 |
|
MONDO:0015131,MONDO:0006025 |
| MONDO:0976209 |
immunodeficiency 121 |
DOID:0061087 |
MONDO:equivalentTo |
immunodeficiency 121 |
|
MONDO:0015974,MONDO:0000426 |
| MONDO:0976210 |
immunodeficiency 122 |
DOID:0061088 |
MONDO:equivalentTo |
immunodeficiency 122 |
|
MONDO:0006025 |
| MONDO:0976211 |
immunodeficiency 123 |
DOID:0061089 |
MONDO:equivalentTo |
immunodeficiency 123 |
|
MONDO:0001222,MONDO:0006025 |
| MONDO:0976212 |
severe combined immunodeficiency 124 |
DOID:0061090 |
MONDO:equivalentTo |
severe combined immunodeficiency 124 |
|
MONDO:0015974,MONDO:0006025 |
| MONDO:0976213 |
immunodeficiency 125 |
DOID:0061091 |
MONDO:equivalentTo |
immunodeficiency 125 |
|
MONDO:0002211,MONDO:0006025 |
| MONDO:0976214 |
immunodeficiency 127 |
DOID:0061092 |
MONDO:equivalentTo |
immunodeficiency 127 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976215 |
immunodeficiency 128 |
DOID:0061093 |
MONDO:equivalentTo |
immunodeficiency 128 |
|
MONDO:0006025 |
| MONDO:0976216 |
immunodeficiency 129 |
DOID:0061094 |
MONDO:equivalentTo |
immunodeficiency 129 |
|
MONDO:0001222,MONDO:0006025 |
| MONDO:0976217 |
immunodeficiency 130 |
DOID:0061095 |
MONDO:equivalentTo |
immunodeficiency 130 |
|
MONDO:0005093,MONDO:0001222,MONDO:0006025 |
| MONDO:0976218 |
immunodeficiency 133 |
DOID:0061096 |
MONDO:equivalentTo |
immunodeficiency 133 |
|
MONDO:0003778,MONDO:0006025 |
| MONDO:0976219 |
immunodeficiency 132b |
DOID:0061097 |
MONDO:equivalentTo |
immunodeficiency 132B |
|
MONDO:0003778,MONDO:0000426 |
| MONDO:0976220 |
carpenter syndrome 1 |
DOID:0061098 |
MONDO:equivalentTo |
Carpenter syndrome 1 |
|
MONDO:0019012,MONDO:0006025 |
| MONDO:0976221 |
carpenter syndrome 2 |
DOID:0061099 |
MONDO:equivalentTo |
Carpenter syndrome 2 |
|
MONDO:0019012,MONDO:0006025 |
| MONDO:0976222 |
autosomal dominant primary microcephaly |
DOID:0061100 |
MONDO:equivalentTo |
autosomal dominant primary microcephaly |
|
MONDO:0016056,MONDO:0000426 |
| MONDO:0976223 |
immunodeficiency 132a |
DOID:0061101 |
MONDO:equivalentTo |
immunodeficiency 132A |
|
MONDO:0003778,MONDO:0000426 |
| MONDO:0976224 |
hypertrophic cardiomyopathy 27 |
DOID:0061102 |
MONDO:equivalentTo |
hypertrophic cardiomyopathy 27 |
|
MONDO:0024573,MONDO:0006025 |
| MONDO:0976238 |
retinitis pigmentosa 76 |
DOID:0061103 |
MONDO:equivalentTo |
retinitis pigmentosa 76 |
|
MONDO:0019200,MONDO:0006025 |
| MONDO:0976239 |
retinitis pigmentosa 96 |
DOID:0061104 |
MONDO:equivalentTo |
retinitis pigmentosa 96 |
|
MONDO:0019200,MONDO:0000426 |
| MONDO:0976240 |
retinitis pigmentosa 93 |
DOID:0061105 |
MONDO:equivalentTo |
retinitis pigmentosa 93 |
|
MONDO:0019200,MONDO:0006025 |
| MONDO:0976241 |
retinitis pigmentosa 91 |
DOID:0061106 |
MONDO:equivalentTo |
retinitis pigmentosa 91 |
|
MONDO:0019200,MONDO:0000426 |
| MONDO:0976242 |
retinitis pigmentosa 92 |
DOID:0061107 |
MONDO:equivalentTo |
retinitis pigmentosa 92 |
|
MONDO:0019200,MONDO:0006025 |
| MONDO:0976243 |
retinitis pigmentosa 79 |
DOID:0061108 |
MONDO:equivalentTo |
retinitis pigmentosa 79 |
|
MONDO:0019200,MONDO:0000426 |
| MONDO:0976244 |
retinitis pigmentosa 98 |
DOID:0061109 |
MONDO:equivalentTo |
retinitis pigmentosa 98 |
|
MONDO:0019200,MONDO:0006025 |
| MONDO:0976245 |
retinitis pigmentosa 97 |
DOID:0061110 |
MONDO:equivalentTo |
retinitis pigmentosa 97 |
|
MONDO:0019200,MONDO:0000426 |
| MONDO:0976246 |
retinitis pigmentosa 80 |
DOID:0061111 |
MONDO:equivalentTo |
retinitis pigmentosa 80 |
|
MONDO:0019200,MONDO:0006025 |
| MONDO:0976247 |
retinitis pigmentosa 95 |
DOID:0061112 |
MONDO:equivalentTo |
retinitis pigmentosa 95 |
|
MONDO:0019200,MONDO:0006025 |
| MONDO:0976248 |
retinitis pigmentosa 78 |
DOID:0061113 |
MONDO:equivalentTo |
retinitis pigmentosa 78 |
|
MONDO:0019200,MONDO:0006025 |
| MONDO:0976249 |
autosomal recessive intellectual developmental disorder 83 |
DOID:0061114 |
MONDO:equivalentTo |
autosomal recessive intellectual developmental disorder 83 |
|
MONDO:0019502 |
| MONDO:0976250 |
carey-fineman-ziter syndrome 1 |
DOID:0061115 |
MONDO:equivalentTo |
Carey-Fineman-Ziter syndrome 1 |
|
MONDO:0800437,MONDO:0006025 |
| MONDO:0976251 |
carey-fineman-ziter syndrome 2 |
DOID:0061116 |
MONDO:equivalentTo |
Carey-Fineman-Ziter syndrome 2 |
|
MONDO:0800437,MONDO:0006025 |
| MONDO:0976252 |
perrault syndrome 2 |
DOID:0061117 |
MONDO:equivalentTo |
Perrault syndrome 2 |
|
MONDO:0017312 |
| MONDO:0976253 |
autosomal dominant tubulointerstitial kidney disease 2 |
DOID:0061118 |
MONDO:equivalentTo |
autosomal dominant tubulointerstitial kidney disease 2 |
|
MONDO:0000608 |
| MONDO:0976254 |
autosomal dominant tubulointerstitial kidney disease 4 |
DOID:0061119 |
MONDO:equivalentTo |
autosomal dominant tubulointerstitial kidney disease 4 |
|
MONDO:0000608 |
| MONDO:0976255 |
autosomal dominant tubulointerstitial kidney disease 5 |
DOID:0061120 |
MONDO:equivalentTo |
autosomal dominant tubulointerstitial kidney disease 5 |
|
MONDO:0000608 |
| MONDO:0976256 |
autosomal dominant tubulointerstitial kidney disease 6 |
DOID:0061121 |
MONDO:equivalentTo |
autosomal dominant tubulointerstitial kidney disease 6 |
|
MONDO:0000608 |
| MONDO:0976257 |
autosomal dominant tubulointerstitial kidney disease 1 |
DOID:0061122 |
MONDO:equivalentTo |
autosomal dominant tubulointerstitial kidney disease 1 |
|
MONDO:0000608 |
| MONDO:0976258 |
sitosterolemia 1 |
DOID:0070634 |
MONDO:equivalentTo |
sitosterolemia 1 |
|
MONDO:0008863 |
| MONDO:0976272 |
visceral heterotaxy 14 |
DOID:0061123 |
MONDO:equivalentTo |
visceral heterotaxy 14 |
|
MONDO:0006025,MONDO:0018677 |
| MONDO:0976273 |
autosomal recessive nonsyndromic deafness 125 |
DOID:0061124 |
MONDO:equivalentTo |
autosomal recessive nonsyndromic deafness 125 |
|
MONDO:0019588 |
| MONDO:0976274 |
immunodeficiency 131 |
DOID:0061125 |
MONDO:equivalentTo |
immunodeficiency 131 |
|
MONDO:0005275,MONDO:0003778,MONDO:0000426 |
| MONDO:0976275 |
brunet-wagner neurodevelopmental syndrome |
DOID:0061126 |
MONDO:equivalentTo |
Brunet-Wagner neurodevelopmental syndrome |
|
MONDO:0002254,MONDO:0019502 |
| MONDO:0976276 |
retinitis pigmentosa 99 |
DOID:0061127 |
MONDO:equivalentTo |
retinitis pigmentosa 99 |
|
MONDO:0019200 |
| MONDO:0976277 |
mucopolysaccharidosis x |
DOID:0061128 |
MONDO:equivalentTo |
mucopolysaccharidosis X |
|
MONDO:0019249 |
| MONDO:0976278 |
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
DOID:0061129 |
MONDO:equivalentTo |
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
|
MONDO:0002254,MONDO:0015802 |
| MONDO:0976279 |
autosomal recessive limb-girdle muscular dystrophy type 28 |
DOID:0061130 |
MONDO:equivalentTo |
autosomal recessive limb-girdle muscular dystrophy type 28 |
|
MONDO:0015152 |
| MONDO:0976280 |
autosomal recessive limb-girdle muscular dystrophy type 26 |
DOID:0061131 |
MONDO:equivalentTo |
autosomal recessive limb-girdle muscular dystrophy type 26 |
|
MONDO:0015152 |
| MONDO:0976281 |
autosomal recessive limb-girdle muscular dystrophy type 23 |
DOID:0061132 |
MONDO:equivalentTo |
autosomal recessive limb-girdle muscular dystrophy type 23 |
|
MONDO:0015152 |
| MONDO:0976282 |
autosomal recessive limb-girdle muscular dystrophy type 27 |
DOID:0061133 |
MONDO:equivalentTo |
autosomal recessive limb-girdle muscular dystrophy type 27 |
|
MONDO:0015152 |
| MONDO:0976283 |
autosomal recessive limb-girdle muscular dystrophy type 29 |
DOID:0061134 |
MONDO:equivalentTo |
autosomal recessive limb-girdle muscular dystrophy type 29 |
|
MONDO:0015152 |
| MONDO:0976289 |
infantile hypercalcemia 2 |
DOID:0061135 |
MONDO:equivalentTo |
infantile hypercalcemia 2 |
|
MONDO:0019052,MONDO:0001566,MONDO:0006025 |
| MONDO:0976290 |
infantile hypercalcemia 1 |
DOID:0061136 |
MONDO:equivalentTo |
infantile hypercalcemia 1 |
|
MONDO:0019052,MONDO:0001566,MONDO:0006025 |
| MONDO:0976291 |
spinocerebellar ataxia type 27b |
DOID:0061137 |
MONDO:equivalentTo |
spinocerebellar ataxia type 27B |
|
MONDO:0020380 |
| MONDO:0976292 |
complex cortical dysplasia with other brain malformations 9 |
DOID:0061138 |
MONDO:equivalentTo |
complex cortical dysplasia with other brain malformations 9 |
|
MONDO:0000904,MONDO:0006025 |
| MONDO:0976293 |
coronary atherosclerosis |
DOID:0061139 |
MONDO:equivalentTo |
coronary atherosclerosis |
|
MONDO:0005311 |
| MONDO:0976294 |
ragopathy |
DOID:0061140 |
MONDO:equivalentTo |
ragopathy |
|
MONDO:0002254 |
| MONDO:0976295 |
complex cortical dysplasia with other brain malformations 12 |
DOID:0061141 |
MONDO:equivalentTo |
complex cortical dysplasia with other brain malformations 12 |
|
MONDO:0000904,MONDO:0006025 |
| MONDO:0976296 |
complex cortical dysplasia with other brain malformations 11 |
DOID:0061142 |
MONDO:equivalentTo |
complex cortical dysplasia with other brain malformations 11 |
|
MONDO:0000904,MONDO:0006025 |
| MONDO:0976297 |
complex cortical dysplasia with other brain malformations 10 |
DOID:0061143 |
MONDO:equivalentTo |
complex cortical dysplasia with other brain malformations 10 |
|
MONDO:0000904,MONDO:0006025 |
| MONDO:0976298 |
complex cortical dysplasia with other brain malformations 13 |
DOID:0061144 |
MONDO:equivalentTo |
complex cortical dysplasia with other brain malformations 13 |
|
MONDO:0000904,MONDO:0000426 |
| MONDO:0976299 |
pan-chung-bellen syndrome |
DOID:0061146 |
MONDO:equivalentTo |
Pan-Chung-Bellen syndrome |
|
MONDO:0000508,MONDO:0000426 |
| MONDO:0976300 |
neurodevelopmental disorder with or without autism or seizures |
DOID:0061147 |
MONDO:equivalentTo |
neurodevelopmental disorder with or without autism or seizures |
|
MONDO:0002254,MONDO:0015802 |
| MONDO:0976301 |
cardiovascular-kidney-metabolic syndrome |
DOID:0070635 |
MONDO:equivalentTo |
cardiovascular-kidney-metabolic syndrome |
|
MONDO:0002254 |