| Orphanet:409975 |
1-5 / 10 000 |
| Orphanet:409976 |
1-9 / 1 000 000 |
| Orphanet:409977 |
1-9 / 100 000 |
| Orphanet:717812 |
12q24.31 microdeletion syndrome |
| Orphanet:727620 |
16p13.11p11.2 triplication/16p11.2 duplication syndrome |
| Orphanet:717830 |
2p14p15 microdeletion syndrome |
| Orphanet:397695 |
3q27.3 microdeletion syndrome |
| Orphanet:409978 |
6-9 / 10 000 |
| Orphanet:714413 |
9p23p22.2 microdeletion syndrome |
| Orphanet:409979 |
<1 / 1 000 000 |
| Orphanet:409980 |
>1 / 1000 |
| Orphanet:714484 |
AGR2-related infantile-onset inflammatory bowel disease |
| Orphanet:727915 |
APOB-related familial hypobetalipoproteinemia |
| Orphanet:714702 |
Abdominal arteriovenous malformation |
| Orphanet:715307 |
Acquired spinal dural arteriovenous fistula |
| Orphanet:715855 |
Acute exudative polymorphous vitelliform maculopathy |
| Orphanet:714101 |
Acute idiopathic maculopathy |
| Orphanet:714164 |
Acute posterior multifocal placoid pigment epitheliopathy |
| Orphanet:719931 |
Angiokeratoma circumscriptum |
| Orphanet:719936 |
Angiokeratoma of Mibelli |
| Orphanet:730248 |
Anti-CASPR1 nodopathy |
| Orphanet:730243 |
Anti-CNTN1 nodopathy |
| Orphanet:730233 |
Anti-NF155 nodopathy |
| Orphanet:730238 |
Anti-pan-neurofascin nodopathy |
| Orphanet:725964 |
Appendiceal mucinous neoplasm |
| Orphanet:717638 |
Aquagenic urticaria |
| Orphanet:726004 |
Astrocytoma grade 4 |
| Orphanet:698945 |
Autoimmune heparin-induced thrombocytopenia |
| Orphanet:730230 |
Autoimmune nodopathy |
| Orphanet:708133 |
Autosomal dominant ACTN2-related distal myopathy |
| Orphanet:716908 |
Autosomal dominant congenital myasthenic syndrome due to defective synaptic vesicles exocytosis |
| Orphanet:708123 |
Autosomal dominant distal nebulin myopathy |
| Orphanet:708129 |
Autosomal recessive ACTN2-related distal myopathy |
| Orphanet:727394 |
Autosomal recessive KLF1-related severe anemia |
| Orphanet:716903 |
Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis |
| Orphanet:723106 |
Biochemical variant galactosemia |
| Orphanet:725898 |
Bone marrow failure-diabetes mellitus syndrome |
| Orphanet:727820 |
Brainstem disconnection syndrome |
| Orphanet:727156 |
CACNA1C-related isolated congenital Long QT syndrome |
| Orphanet:714410 |
CARD8-related inflammatory bowel disease |
| Orphanet:730631 |
CASQ2-related catecholaminergic polymorphic ventricular tachycardia |
| Orphanet:726788 |
Calcium release deficiency syndrome |
| Orphanet:730657 |
Calmodulin-related catecholaminergic polymorphic ventricular tachycardia |
| Orphanet:727192 |
Calmodulin-related isolated congenital long QT syndrome |
| Orphanet:717605 |
Capillary-lymphatic malformation |
| Orphanet:717619 |
Capillary-lymphatic-venous malformation |
| Orphanet:717611 |
Capillary-venous malformation |
| Orphanet:730728 |
Catecholaminergic polymorphic ventricular tachycardia without known causative genetic defect |
| Orphanet:557495 |
Category |
| Orphanet:719939 |
Central conducting lymphatic anomaly |
| Orphanet:723432 |
Central nervous system venous vascular malformation |
| Orphanet:730332 |
Charcot-Marie-Tooth disease type 1J |
| Orphanet:730743 |
Childhood-onset TK2-related mitochondrial DNA maintenance defect, myopathic form |
| Orphanet:726700 |
Chitayat syndrome |
| Orphanet:723203 |
Choroidal and ciliary body melanoma |
| Orphanet:717268 |
Circumscribed astrocytic glioma |
| Orphanet:714138 |
Circumscribed choroidal hemangioma |
| Orphanet:377794 |
Clinical group |
| Orphanet:377796 |
Clinical subtype |
| Orphanet:723101 |
Clinical variant galactosemia |
| Orphanet:717582 |
Coagulation abnormality associated with a vascular anomaly |
| Orphanet:718017 |
Combined immunodeficiency due to COPG1 deficiency |
| Orphanet:723161 |
Combined immunodeficiency due to NFATC1 deficiency |
| Orphanet:718047 |
Combined immunodeficiency due to polymerase delta deficiency |
| Orphanet:726452 |
Combined immunodeficiency with early gray hairing |
| Orphanet:726442 |
Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections |
| Orphanet:699596 |
Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency |
| Orphanet:699593 |
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency |
| Orphanet:696881 |
Common variable immunodeficiency phenotype due to CD19/CD81 deficiency |
| Orphanet:696931 |
Common variable immunodeficiency phenotype due to TWEAK deficiency |
| Orphanet:696857 |
Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations |
| Orphanet:696870 |
Common variable immunodeficiency phenotype due to germinal monogenic mutation |
| Orphanet:696907 |
Common variable immunodeficiency phenotype due to homozygous TACI deficiency |
| Orphanet:696863 |
Common variable immunodeficiency phenotype due to somatic mutations |
| Orphanet:231205 |
Common variable immunodeficiency without known genetic defect |
| Orphanet:714079 |
Complete congenital stationary night blindness, Schubert-Bornschein type |
| Orphanet:719950 |
Complex lymphatic anomaly |
| Orphanet:730418 |
Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of genetic/genomic origin |
| Orphanet:730415 |
Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of not yet identified genetic/genomic cause |
| Orphanet:730421 |
Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder |
| Orphanet:726053 |
Congenital amegakaryocytic thrombocytopenia without known causal genetic defect |
| Orphanet:726047 |
Congenital amegakaryocytic thrombocytopenia-MPL |
| Orphanet:726050 |
Congenital amegakaryocytic thrombocytopenia-THPO |
| Orphanet:714487 |
Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome |
| Orphanet:714692 |
Congenital disseminated pyogenic granuloma |
| Orphanet:729781 |
Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome |
| Orphanet:708019 |
Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome |
| Orphanet:728467 |
Congenital macrothrombocytopenia with focal myelofibrosis |
| Orphanet:717646 |
Congenital midnasal stenosis |
| Orphanet:716913 |
Congenital myasthenic syndrome associated with ubiquitously expressed proteins |
| Orphanet:716881 |
Congenital myasthenic syndrome due to a sodium channel 1.4 defect |
| Orphanet:719880 |
Congenital myasthenic syndrome due to acetylcholine receptor clustering defect |
| Orphanet:716889 |
Congenital myasthenic syndrome due to defective axonal transport |
| Orphanet:719914 |
Congenital myasthenic syndrome due to defective nuclear membrane protein |
| Orphanet:719921 |
Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction |
| Orphanet:716899 |
Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis |
| Orphanet:716893 |
Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine |
| Orphanet:716825 |
Congenital myasthenic syndrome due to defects in endplate development and maintenance |
| Orphanet:716742 |
Congenital myasthenic syndrome with kinetic defect |
| Orphanet:716772 |
Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance |
| Orphanet:716917 |
Congenital myasthenic syndrome with mitochondrial defect |
| Orphanet:716816 |
Congenital myasthenic syndrome with primary acetylcholine receptor deficiency |
| Orphanet:714096 |
Congenital stationary night blindness, Riggs type |
| Orphanet:714090 |
Congenital stationary night blindness, Schubert-Bornschein type |
| Orphanet:714493 |
Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency |
| Orphanet:728902 |
Craniotubular dysplasia, Ikegawa type |
| Orphanet:723286 |
Cutaneous epithelioid angiomatous nodule |
| Orphanet:708126 |
DNAJB6-related distal myopathy |
| Orphanet:720321 |
Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome |
| Orphanet:720326 |
Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome |
| Orphanet:717846 |
Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome |
| Orphanet:714404 |
Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome |
| Orphanet:714407 |
Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation |
| Orphanet:717854 |
Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome |
| Orphanet:726695 |
Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome |
| Orphanet:708208 |
Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome |
| Orphanet:714737 |
Diffuse capillary malformation with overgrowth |
| Orphanet:715950 |
Diffuse hemispheric glioma-H3 G34-mutant |
| Orphanet:723358 |
Diffuse midline glioma, H3 K27-altered |
| Orphanet:715724 |
Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype |
| Orphanet:717593 |
Disseminated intravascular coagulation associated with a vascular anomaly |
| Orphanet:707937 |
Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome |
| Orphanet:717564 |
Dural sinus malformation without arteriovenous shunt |
| Orphanet:728619 |
Early repolarization syndrome |
| Orphanet:707983 |
Early-onset autosomal recessive TTN-related distal myopathy |
| Orphanet:714477 |
Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome |
| Orphanet:729649 |
Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder |
| Orphanet:708036 |
Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth |
| Orphanet:708043 |
Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples |
| Orphanet:708014 |
Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment syndrome |
| Orphanet:708684 |
Eosinophilic cystitis |
| Orphanet:729224 |
Epilepsy-mild cortical malformation-oligodendroglial hyperplasia |
| Orphanet:730401 |
Erythema induratum of Bazin |
| Orphanet:728877 |
Esophageal atresia type A |
| Orphanet:728882 |
Esophageal atresia type B |
| Orphanet:728885 |
Esophageal atresia type C |
| Orphanet:728888 |
Esophageal atresia type D |
| Orphanet:728891 |
Esophageal atresia type E |
| Orphanet:730363 |
Ethanol-producing endogenous fermentation syndrome |
| Orphanet:377795 |
Etiological subtype |
| Orphanet:723223 |
Extrapulmonary non-tuberculous mycobacterial infection |
| Orphanet:708171 |
Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy |
| Orphanet:727925 |
Familial combined hypolipidemia |
| Orphanet:716758 |
Fast-channel congenital myasthenic syndrome |
| Orphanet:715744 |
Fast-flow vascular malformation of the central nervous system |
| Orphanet:714698 |
Fast-flow vascular malformation of the thoraco-abdominal-pelvic cavity |
| Orphanet:723156 |
Fetal acetylcholine receptor antibody-related disorder |
| Orphanet:728725 |
Fetus in fetu |
| Orphanet:723342 |
Flow limitation in the iliac artery |
| Orphanet:729560 |
Forebrain malformation |
| Orphanet:723094 |
Galactose-1-phosphate uridylyltransferase deficiency |
| Orphanet:693869 |
Gallblader arteriovenous malformation |
| Orphanet:693832 |
Gastrointestinal tract arteriovenous malformation |
| Orphanet:723416 |
Genetic arthrogryposis syndrome |
| Orphanet:730707 |
Genetic forebrain malformation |
| Orphanet:730393 |
Genetic isolated posterior fossa cystic malformation |
| Orphanet:730382 |
Genetic midbrain-hindbrain malformation |
| Orphanet:730390 |
Genetic posterior fossa cystic malformation |
| Orphanet:726479 |
Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency |
| Orphanet:728642 |
Genetic syndrome or malformation associated with head and neck malformations |
| Orphanet:730696 |
Genetic syndrome with a brainstem malformation as a major feature |
| Orphanet:730406 |
Genetic syndrome with a posterior fossa cystic malformation as a major feature |
| Orphanet:730699 |
Genetic syndromic rhombencephalosynapsis |
| Orphanet:715446 |
Geographic pattern capillary malformation |
| Orphanet:717884 |
Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome |
| Orphanet:726677 |
Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome |
| Orphanet:714399 |
Global developmental delay-dental enamel defects-ataxia syndrome |
| Orphanet:724148 |
Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome |
| Orphanet:717841 |
Global developmental delay-facial dysmorphism-atrial septal defect syndrome |
| Orphanet:716109 |
Global developmental delay-facial dysmorphism-brachydactyly syndrome |
| Orphanet:716116 |
Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome |
| Orphanet:714385 |
Global developmental delay-high pain tolerance-intellectual disability syndrome |
| Orphanet:730327 |
Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome |
| Orphanet:724143 |
Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome |
| Orphanet:717823 |
Global developmental delay-recurrent infections-facial dysmorphism syndrome |
| Orphanet:730355 |
Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome |
| Orphanet:708178 |
Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome |
| Orphanet:726684 |
Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome |
| Orphanet:730887 |
Granulomatous amoebic encephalitis |
| Orphanet:726837 |
Hematohidrosis |
| Orphanet:715125 |
Hemoglobin E-beta-thalassemia intermedia |
| Orphanet:715128 |
Hemoglobin E-beta-thalassemia major |
| Orphanet:715135 |
Hemoglobin Lepore-beta-thalassemia intermedia |
| Orphanet:715140 |
Hemoglobin Lepore-beta-thalassemia major |
| Orphanet:693846 |
Hepatic arteriovenous malformation |
| Orphanet:726824 |
Hepatorenocardiac degenerative fibrosis |
| Orphanet:715143 |
Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene |
| Orphanet:725992 |
High-grade appendiceal mucinous neoplasm |
| Orphanet:715721 |
High-grade astrocytoma with piloid features |
| Orphanet:377797 |
Histopathological subtype |
| Orphanet:726644 |
Houge-Janssens syndrome |
| Orphanet:726659 |
Houge-Janssens syndrome type 3 |
| Orphanet:726667 |
Houge-Janssens syndrome type 4 |
| Orphanet:3322 |
Hoyeraal-Hreidarsson syndrome |
| Orphanet:723146 |
Hyper-IgM syndrome due to INO80 deficiency |
| Orphanet:715120 |
Hyperpituitarism |
| Orphanet:727932 |
Hypocholesterolemia due to PCSK9 deficiency |
| Orphanet:730318 |
ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome |
| Orphanet:715845 |
Idiopathic acute exudative polymorphous vitelliform maculopathy |
| Orphanet:714154 |
Idiopathic multifocal choroiditis |
| Orphanet:728633 |
Idiopathic orbital inflammation syndrome |
| Orphanet:714829 |
Immune checkpoint inhibitor-induced myositis |
| Orphanet:728866 |
Immune effector cell-associated neurotoxicity syndrome |
| Orphanet:714496 |
Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome |
| Orphanet:714070 |
Incomplete congenital stationary night blindness, Schubert-Bornschein type |
| Orphanet:715697 |
Infant-type hemispheric glioma ALK-altered |
| Orphanet:715704 |
Infant-type hemispheric glioma MET-altered |
| Orphanet:715694 |
Infant-type hemispheric glioma NTRK-altered |
| Orphanet:715701 |
Infant-type hemispheric glioma ROS1-altered |
| Orphanet:730226 |
Infant-type hemispheric glioma, fusion-negative |
| Orphanet:730740 |
Infantile-onset TK2-related mitochondrial DNA maintenance defect, myopathic form |
| Orphanet:714423 |
Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome |
| Orphanet:714472 |
Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome |
| Orphanet:728475 |
Inherited bone marrow failure disorder with immune defect |
| Orphanet:726782 |
Intellectual disability-myopathy-white matter abnormality syndrome |
| Orphanet:708203 |
Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome |
| Orphanet:715318 |
Intracranial dural arteriovenous fistula |
| Orphanet:715750 |
Intracranial fast-flow vascular malformation |
| Orphanet:708007 |
Intramuscular fast-flow vascular anomaly |
| Orphanet:715923 |
Intraosseous venous malformation |
| Orphanet:730396 |
Invasive meningococcal disease |
| Orphanet:723195 |
Iris melanoma |
| Orphanet:730322 |
Isolated anophthalmia |
| Orphanet:729527 |
Isolated cerebellar malformation |
| Orphanet:723518 |
Isolated combined vascular malformation |
| Orphanet:730675 |
Isolated complex neurodevelopmental disorder without ID/ASD of genetic/genomic origin |
| Orphanet:730679 |
Isolated complex neurodevelopmental disorder without ID/ASD of not yet identified genetic/genomic cause |
| Orphanet:730672 |
Isolated complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder |
| Orphanet:727126 |
Isolated congenital long QT syndrome without known causative genetic defect |
| Orphanet:715345 |
Isolated geographic pattern capillary malformation |
| Orphanet:727803 |
Isolated global cerebellar hypoplasia |
| Orphanet:723270 |
Isolated glomeruloid hemangioma |
| Orphanet:715359 |
Isolated low resistance capillary malformation |
| Orphanet:730721 |
Isolated partial colobomatous microphthalmia |
| Orphanet:729563 |
Isolated posterior fossa cystic malformation |
| Orphanet:715353 |
Isolated reticulated capillary malformation |
| Orphanet:727185 |
KCNE1-related isolated congenital long QT syndrome |
| Orphanet:727178 |
KCNE2-related isolated congenital long QT syndrome |
| Orphanet:727149 |
KCNH2-related isolated congenital long QT syndrome |
| Orphanet:727141 |
KCNQ1-related isolated congenital long QT syndrome |
| Orphanet:717585 |
Kasabach-Merritt-like phenomenon |
| Orphanet:730746 |
Late-onset TK2-related mitochondrial DNA maintenance defect, myopathic form |
| Orphanet:720017 |
Late-onset brain arteriovenous fistula |
| Orphanet:720027 |
Late-onset spinal arteriovenous fistula |
| Orphanet:730385 |
Lichen scrofulosorum |
| Orphanet:717588 |
Localized intravascular coagulation |
| Orphanet:727651 |
Loin pain-hematuria syndrome |
| Orphanet:715154 |
Low oxygen affinity alpha chain hemoglobin disease |
| Orphanet:715157 |
Low oxygen affinity beta chain hemoglobin disease |
| Orphanet:715147 |
Low oxygen affinity hemoglobin disease |
| Orphanet:715463 |
Low resistance capillary malformation |
| Orphanet:725984 |
Low-grade appendiceal mucinous neoplasm |
| Orphanet:730256 |
Low-grade fibromyxoid sarcoma |
| Orphanet:717598 |
Lymphatic-venous malformation |
| Orphanet:714709 |
Mediastinal arteriovenous malformation |
| Orphanet:727881 |
Medullary tegmental cap dysplasia |
| Orphanet:730286 |
Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome |
| Orphanet:715862 |
Melanocytoma of the optic disc and optic nerve |
| Orphanet:715757 |
Metameric fast-flow vascular malformation |
| Orphanet:707993 |
Methemoglobinemia-related cyanosis |
| Orphanet:718037 |
Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency |
| Orphanet:729554 |
Midbrain-Hindbrain malformation |
| Orphanet:727719 |
Monoamine oxidase A and monoamine oxidase B deficiency |
| Orphanet:715623 |
Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome |
| Orphanet:723139 |
Multifocal ectopic Purkinje-related premature contraction |
| Orphanet:719955 |
Multifocal fast-flow vascular malformation |
| Orphanet:715339 |
Multifocal peripheral venous malformation |
| Orphanet:714806 |
Multifocal sporadic venous malformation |
| Orphanet:728764 |
NIT1-related cerebral small vessel disease |
| Orphanet:720014 |
Neonatal/infantile-onset brain arteriovenous fistula |
| Orphanet:720023 |
Neonatal/infantile-onset spinal arteriovenous fistula |
| Orphanet:714109 |
Ocular siderosis |
| Orphanet:730892 |
Ossifying fibromyxoid tumor |
| Orphanet:720357 |
Otofaciocervical syndrome with thymic hypoplasia |
| Orphanet:720341 |
Otofaciocervical syndrome without thymic hypoplasia |
| Orphanet:714652 |
PCDH19 clustering epilepsy |
| Orphanet:714490 |
PERCC1-related congenital intractable malabsorptive diarrhea |
| Orphanet:728584 |
PIK3CA-related overgrowth spectrum disorder with vascular malformation |
| Orphanet:728432 |
PLA2G6-related neurodegeneration, juvenile-onset |
| Orphanet:726807 |
PTEN hamartoma of soft tissue |
| Orphanet:693826 |
Pancreatic arteriovenous malformation |
| Orphanet:730379 |
Papulonecrotic tuberculid |
| Orphanet:730289 |
Paraduodenal pancreatitis |
| Orphanet:715850 |
Paraneoplastic acute exudative polymorphous vitelliform maculopathy |
| Orphanet:715331 |
Paraspinal arteriovenous malformation |
| Orphanet:717784 |
Partial trisomy 12q syndrome |
| Orphanet:714715 |
Pelvic arteriovenous malformation |
| Orphanet:708051 |
Peripheral arteriovenous fistula |
| Orphanet:708046 |
Peripheral arteriovenous malformation |
| Orphanet:707944 |
Peripheral fast-flow vascular malformation |
| Orphanet:708651 |
Phosphoribosylformylglycinamidine synthase deficiency |
| Orphanet:719766 |
Photic retinopathy |
| Orphanet:726703 |
Polydactyly-macrocephaly syndrome |
| Orphanet:728528 |
Pontocerebellar hypoplasia and related disorders |
| Orphanet:728514 |
Pontocerebellar hypoplasia type 16 |
| Orphanet:728521 |
Pontocerebellar hypoplasia type 17 |
| Orphanet:729557 |
Posterior fossa cystic malformation |
| Orphanet:723290 |
Pregnancy-associated spontaneous coronary artery dissection |
| Orphanet:714160 |
Presumed ocular histoplasmosis syndrome |
| Orphanet:730882 |
Primary amoebic meningoencephalitis |
| Orphanet:730276 |
Primary autoimmune ear disease |
| Orphanet:714046 |
Primary choroidal lymphoma |
| Orphanet:730702 |
Primary extra-pulmonary tuberculosis |
| Orphanet:95506 |
Primary hypophysitis |
| Orphanet:728894 |
Progestogen Hypersensitivity |
| Orphanet:727296 |
Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome |
| Orphanet:714429 |
Pseudo-TORCH syndrome type 3 |
| Orphanet:730618 |
RYR2-related catecholaminergic polymorphic ventricular tachycardia |
| Orphanet:726832 |
Radiation-induced Moyamoya syndrome |
| Orphanet:730376 |
Rare acquired isolated progressive generalized retinal disorder |
| Orphanet:716207 |
Rare benign neoplastic choroidal disorder |
| Orphanet:730693 |
Rare complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder |
| Orphanet:716393 |
Rare disorder with non-progressive generalized retinal disorder as a major feature |
| Orphanet:716299 |
Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature |
| Orphanet:716422 |
Rare disorder with non-progressive predominantly macular disorder as a major feature |
| Orphanet:716405 |
Rare disorder with progressive generalized retinal disorder as a major feature |
| Orphanet:716342 |
Rare disorder with progressive predominantly chorioretinal disorder as a major feature |
| Orphanet:716427 |
Rare disorder with progressive predominantly macular disorder as a major feature |
| Orphanet:716459 |
Rare disorder with progressive retinal vasculopathy as a major feature |
| Orphanet:716446 |
Rare disorder with progressive vitreoretinopathy disorder as a major feature |
| Orphanet:716358 |
Rare generalized retinal disorder |
| Orphanet:717348 |
Rare genetic disorder with progressive retinal vasculopathy as a major feature |
| Orphanet:717260 |
Rare genetic generalized retinal disorder |
| Orphanet:717311 |
Rare genetic isolated non-progressive predominantly chorioretinal disorder |
| Orphanet:717330 |
Rare genetic isolated non-progressive predominantly macular disorder |
| Orphanet:717324 |
Rare genetic isolated progressive generalized retinal disorder |
| Orphanet:717317 |
Rare genetic isolated progressive predominantly chorioretinal disorder |
| Orphanet:717336 |
Rare genetic isolated progressive predominantly macular disorder |
| Orphanet:717345 |
Rare genetic isolated progressive retinal vasculopathy |
| Orphanet:717308 |
Rare genetic non-progressive predominantly chorioretinal disorder |
| Orphanet:717327 |
Rare genetic non-progressive predominantly macular disorder |
| Orphanet:717339 |
Rare genetic non-progressive retinal vasculopathy |
| Orphanet:717257 |
Rare genetic predominantly chorioretinal disorder |
| Orphanet:717321 |
Rare genetic progressive generalized retinal disorder |
| Orphanet:717314 |
Rare genetic progressive predominantly chorioretinal disorder |
| Orphanet:717333 |
Rare genetic progressive predominantly macular disorder |
| Orphanet:717342 |
Rare genetic progressive retinal vasculopathy |
| Orphanet:716195 |
Rare inflammatory choroidal disorder |
| Orphanet:716213 |
Rare isolated developmental choroidal disorder |
| Orphanet:716367 |
Rare isolated non-progressive generalized retinal disorder |
| Orphanet:716296 |
Rare isolated non-progressive predominantly chorioretinal disorder |
| Orphanet:716419 |
Rare isolated non-progressive predominantly macular disorder |
| Orphanet:723267 |
Rare isolated port-wine capillary malformation |
| Orphanet:716410 |
Rare isolated progressive generalized retinal disorder |
| Orphanet:716348 |
Rare isolated progressive predominantly chorioretinal disorder |
| Orphanet:716432 |
Rare isolated progressive predominantly macular disorder |
| Orphanet:716466 |
Rare isolated progressive retinal vasculopathy |
| Orphanet:716441 |
Rare isolated progressive vitreoretinopathy |
| Orphanet:716210 |
Rare malignant neoplastic choroidal disorder |
| Orphanet:716204 |
Rare neoplastic choroidal disorder |
| Orphanet:716364 |
Rare non-progressive generalized retinal disorder |
| Orphanet:716293 |
Rare non-progressive predominantly chorioretinal disorder |
| Orphanet:716413 |
Rare non-progressive predominantly macular disorder |
| Orphanet:716450 |
Rare non-progressive retinal vasculopathy |
| Orphanet:716435 |
Rare non-progressive vitreoretinopathy |
| Orphanet:716198 |
Rare paraneoplastic choroidal disorder |
| Orphanet:716290 |
Rare predominantly chorioretinal disorder |
| Orphanet:716361 |
Rare progressive generalized retinal disorder |
| Orphanet:716304 |
Rare progressive predominantly chorioretinal disorder |
| Orphanet:716416 |
Rare progressive predominantly macular disorder |
| Orphanet:716455 |
Rare progressive retinal vasculopathy |
| Orphanet:716438 |
Rare progressive vitreoretinopathy |
| Orphanet:716201 |
Rare vascular choroidal disorder |
| Orphanet:723256 |
Rare vascular malformation |
| Orphanet:726036 |
Red cell aplasia-microcephaly-seizure-developmental delay syndrome |
| Orphanet:693839 |
Renal arteriovenous malformation |
| Orphanet:715453 |
Reticulated capillary malformation |
| Orphanet:714726 |
Retroperitoneal arteriovenous malformation |
| Orphanet:715640 |
Rothmund-Thomson syndrome type 3 |
| Orphanet:715635 |
Rothmund-Thomson syndrome type 4 |
| Orphanet:714481 |
SCGN-related severe early-onset hereditary ulcerative colitis |
| Orphanet:727203 |
SCN5A-related isolated congenital long QT syndrome |
| Orphanet:723218 |
SITRAME Syndrome |
| Orphanet:729761 |
Sandestig-Stefanova syndrome |
| Orphanet:730281 |
Sclerosing epithelioid fibrosarcoma |
| Orphanet:726812 |
Self limited focal childhood epilepsy |
| Orphanet:728662 |
Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome |
| Orphanet:708166 |
Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome |
| Orphanet:700107 |
Sickle cell S-other specified hemoglobin variant |
| Orphanet:714734 |
Sinus pericranii |
| Orphanet:716765 |
Slow-channel congenital myasthenic syndrome |
| Orphanet:715284 |
Spinal cord arteriovenous malformation, nidus type |
| Orphanet:715326 |
Spinal epidural arteriovenous malformation |
| Orphanet:715025 |
Spinal fast-flow vascular malformation |
| Orphanet:693863 |
Splenic arteriovenous malformation |
| Orphanet:699021 |
Spontaneous heparin-induced thrombocytopenia |
| Orphanet:730300 |
Squalene synthase deficiency |
| Orphanet:714150 |
Stellate non-hereditary idiopathic foveomacular retinoschisis |
| Orphanet:714041 |
Straatsma syndrome |
| Orphanet:726843 |
Sweat glands anomaly |
| Orphanet:729519 |
Syndrome with a brainstem malformation as a major feature |
| Orphanet:729566 |
Syndrome with a posterior fossa cystic malformation as a major feature |
| Orphanet:723427 |
Syndromic fast-flow vascular malformation |
| Orphanet:715460 |
Syndromic geographic pattern capillary malformation |
| Orphanet:715466 |
Syndromic low resistance capillary malformation |
| Orphanet:723264 |
Syndromic port-wine capillary malformation |
| Orphanet:729538 |
Syndromic rhombencephalosynapsis |
| Orphanet:723261 |
Syndromic venous malformation |
| Orphanet:720371 |
T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency |
| Orphanet:730644 |
TECRL-related catecholaminergic polymorphic ventricular tachycardia |
| Orphanet:730682 |
TRDN-related catecholaminergic polymorphic ventricular tachycardia |
| Orphanet:727163 |
TRDN-related isolated congenital long QT syndrome |
| Orphanet:726799 |
TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome |
| Orphanet:730373 |
Tuberculid |
| Orphanet:715762 |
Unifocal fast-flow vascular malformation |
| Orphanet:715334 |
Unifocal peripheral venous malformation |
| Orphanet:714785 |
Unifocal sporadic venous malformation |
| Orphanet:707789 |
Unstable alpha globin chain variant disease |
| Orphanet:707792 |
Unstable gamma globin chain variant disease |
| Orphanet:693872 |
Urinary tract arteriovenous malformation |
| Orphanet:693815 |
Uterine arteriovenous malformation |
| Orphanet:699029 |
Vaccine-induced immune thrombotic thrombocytopenia |
| Orphanet:726793 |
Venezuelan equine encephalitis |
| Orphanet:730866 |
Wisconsin syndrome |
| Orphanet:409934 |
X-linked dominant |
| Orphanet:730261 |
X-linked intellectual disability, Basilicata-Akhtar type |
| Orphanet:409932 |
X-linked recessive |
| Orphanet:409938 |
Y-linked |
| Orphanet:718255 |
Y-linked non-syndromic genetic deafness |
| Orphanet:727861 |
YARS1-related multisystemic disease |
| Orphanet:314485 |
Young adult-onset distal hereditary motor neuropathy |
| Orphanet:409947 |
adolescent |
| Orphanet:409948 |
adult |
| Orphanet:C023 |
age of onset |
| Orphanet:409950 |
all ages |
| Orphanet:409967 |
annual incidence |
| Orphanet:409943 |
antenatal |
| Orphanet:409929 |
autosomal dominant |
| Orphanet:409930 |
autosomal recessive |
| Orphanet:409968 |
birth prevalence |
| Orphanet:409973 |
case |
| Orphanet:409970 |
cases/families |
| Orphanet:409946 |
childhood |
| Orphanet:409949 |
elderly |
| Orphanet:C003 |
epidemiology |
| Orphanet:409974 |
family |
| Orphanet:C009 |
geography |
| Orphanet:C032 |
has_annual_incidence_average_value |
| Orphanet:C020 |
has_annual_incidence_range |
| Orphanet:C029 |
has_birth_prevalence_average_value |
| Orphanet:C026 |
has_birth_prevalence_range |
| Orphanet:C024 |
has_cases/families_value |
| Orphanet:C030 |
has_lifetime_prevalence_average_value |
| Orphanet:C027 |
has_lifetime_prevalence_range |
| Orphanet:C028 |
has_point_prevalence_average_value |
| Orphanet:C025 |
has_point_prevalence_range |
| Orphanet:409945 |
infancy |
| Orphanet:C005 |
inheritance |
| Orphanet:409969 |
lifetime prevalence |
| Orphanet:409933 |
mitochondrial |
| Orphanet:409931 |
multigenic/multifactorial |
| Orphanet:409944 |
neonatal |
| Orphanet:409951 |
no age of onset data available |
| Orphanet:409940 |
no inheritance data available |
| Orphanet:409936 |
oligogenic |
| Orphanet:409966 |
point prevalence |
| Orphanet:C004 |
prevalence |
| Orphanet:409937 |
semi-dominant |
| Orphanet:409939 |
unknown inheritance |
| Orphanet:409981 |
unknown_epidemiological_range |