Diseases

Name Orphanumber Description XREF(s)
SERKAL syndrome 139466 SERKAL (SEx Reversion, Kidneys, Adrenal… Orphanet, ICD-10, OMIM
Microphthalmia with brain and digit anomalies 139471 Microphthalmia with brain and digit… Orphanet, ICD-10, OMIM
17q11.2 microduplication syndrome 139474 17q11.2 microduplication syndrome is… Orphanet, ICD-10, OMIM
Autosomal recessive spastic paraplegia type 39 139480 A rare autosomal recessive complex… Orphanet, ICD-10, OMIM
Autosomal recessive ataxia due to ubiquinone deficiency 139485 This syndrome is characterised by… Orphanet, OMIM, ICD-10, OMIM
Hemochromatosis type 4 139491 Hemochromatosis type 4 (also called… Orphanet, OMIM, MeSH, ICD-10
Hemochromatosis type 1 (NON RARE IN EUROPE) 139498 ORPHANET
NON RARE IN EUROPE: Hemochromatosis type 1 139498 Orphanet
Neuropathy with hearing impairment 139512 This syndrome is characterized by the… Orphanet, ICD-10
Charcot-Marie-Tooth disease type 4J 139515 Charcot-Marie-Tooth disease type 4J is… Orphanet, OMIM, ICD-10
Distal hereditary motor neuropathy type 2 139525 A rare autosomal dominant distal… Orphanet, ICD-10, OMIM, OMIM, OMIM, OMIM
Distal hereditary motor neuropathy type 5 139536 A rare autosomal dominant distal… Orphanet, ICD-10, OMIM, OMIM, OMIM
Distal hereditary motor neuropathy, Jerash type 139552 A rare, genetic, neuromuscular disease… Orphanet, ICD-10, OMIM
X-linked distal spinal muscular atrophy type 3 139557 X-linked distal spinal muscular atrophy… Orphanet, OMIM, ICD-10
Mutilating hereditary sensory neuropathy with spastic paraplegia 139578 A rare genetic neurological disorder… Orphanet, OMIM, ICD-10
X-linked hereditary sensory and autonomic neuropathy with deafness 139583 A rare peripheral neuropathy… Orphanet, OMIM, ICD-10
Distal hereditary motor neuropathy type 7 139589 A rare, slowly progressive genetic… Orphanet, OMIM, OMIM, ICD-10
Abetalipoproteinemia 14 A severe, familial… Orphanet, MeSH, OMIM, ICD-10, OMIM, OMIM
Campomelic dysplasia 140 A rare skeletal dysplasia characterized… Orphanet, MeSH, ICD-10, OMIM, OMIM, OMIM
CHAND syndrome 1401 A rare ectodermal dysplasia syndrome… Orphanet, ICD-10, OMIM
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