Diseases

Name Orphanumber Description XREF(s)
Atrial standstill 1344 A rare cardiac rhythm disease… Orphanet, OMIM, OMIM, ICD-10
Mitochondrial DNA-related cardiomyopathy and hearing loss 1349 A rare mitochondrial disease that has a… Orphanet
Carey-Fineman-Ziter syndrome 1358 Carey-Fineman-Ziter (CFZ) syndrome is a… Orphanet, ICD-10, OMIM, OMIM
Carney complex 1359 Carney complex (CNC) is characterized… Orphanet, ICD-10, OMIM, OMIM, MeSH
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy 136 CADASIL (Cerebral Autosomal Dominant… Orphanet, OMIM, MeSH, MedDRA, ICD-10
Autosomal recessive palmoplantar keratoderma and congenital alopecia 1366 Autosomal recessive palmoplantar… Orphanet, ICD-10, OMIM, MeSH, ICD-10
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 1369 Congenital cataract - hypertrophic… Orphanet, OMIM, OMIM, MeSH, ICD-10
Congenital disorder of glycosylation 137 Orphanet
Legius syndrome 137605 Legius syndrome, also known as NF1-like… Orphanet, OMIM, MeSH, ICD-10
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 137608 Segmental outgrowth-lipomatosis-… Orphanet, ICD-10
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 137625 Glycogen storage disease due to muscle… Orphanet, OMIM, ICD-10
Overgrowth-macrocephaly-facial dysmorphism syndrome 137634 A rare overgrowth syndrome… Orphanet, ICD-10
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome 137639 Hypomyelinating leukodystrophy-ataxia-… Orphanet, ICD-10, OMIM
Capillary malformation-arteriovenous malformation 137667 This syndrome is characterised by the… Orphanet, ICD-10, OMIM
Histiocytoid cardiomyopathy 137675 A rare arrhythmogenic disorder… Orphanet, MeSH, OMIM, OMIM, ICD-10
Spondyloepiphyseal dysplasia with metatarsal shortening 137678 A rare, genetic, primary bone dysplasia… Orphanet, ICD-10, MeSH, OMIM
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 137681 A rare, inherited mitochondrial… Orphanet, OMIM, ICD-10
Cataract-microcornea syndrome 1377 Cataract-microcornea syndrome is… Orphanet, MeSH, OMIM, OMIM, OMIM, OMIM, ICD-10
Neurological conditions associated with aminoacylase 1 deficiency 137754 An inborn error of metabolism marked by… Orphanet, OMIM, ICD-10
Lethal congenital contracture syndrome type 2 137776 Lethal congenital contracture syndrome… Orphanet, ICD-10, OMIM
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