Diseases

Name Orphanumber Description XREF(s)
Lethal congenital contracture syndrome type 3 137783 Lethal congenital contracture syndrome… Orphanet, OMIM, OMIM, ICD-10
X-linked intellectual disability-cerebellar hypoplasia syndrome 137831 X-linked intellectual deficit-… Orphanet, ICD-10, OMIM
Frank-Ter Haar syndrome 137834 A rare primary bone dysplasia… Orphanet, OMIM, ICD-10
Auriculocondylar syndrome 137888 A rare, genetic dysostosis with… Orphanet, OMIM, OMIM, OMIM, OMIM, ICD-10, MeSH
Male infertility due to large-headed multiflagellar polyploid spermatozoa 137893 A rare male infertility due to a sperm… Orphanet, OMIM, ICD-10
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 137898 This disease is characterised by… Orphanet, ICD-10, OMIM
Isolated optic nerve hypoplasia/aplasia 137902 A rare genetic optic nerve disorder… Orphanet, OMIM, ICD-10
Hypotonia with lactic acidemia and hyperammonemia 137908 This syndrome is characterised by… Orphanet, OMIM, ICD-10
CHARGE syndrome 138 CHARGE syndrome is a multiple… Orphanet, OMIM, MedDRA, ICD-10, MeSH
Cataract-intellectual disability-hypogonadism syndrome 1387 This syndrome is characterized by the… Orphanet, ICD-10, OMIM, OMIM
Catel-Manzke syndrome 1388 Catel-Manzke syndrome is a rare bone… Orphanet, ICD-10, MeSH, OMIM
CHILD syndrome 139 A rare developmental defect during… Orphanet, ICD-10, OMIM
Cerebrocostomandibular syndrome 1393 Cerebro-costo-mandibular syndrome (CCMS… Orphanet, OMIM, ICD-10
X-linked cerebral adrenoleukodystrophy 139396 A progressive peroxisomal disease,… Orphanet, OMIM, ICD-10
Adrenomyeloneuropathy 139399 A form of the peroxisomal disease X-… Orphanet, ICD-10, OMIM
Cerebrofaciothoracic dysplasia 1394 Cerebro-facio-thoracic dysplasia or… Orphanet, OMIM, ICD-10, OMIM
Encephalopathy due to prosaposin deficiency 139406 A lysosomal storage disease belonging… Orphanet, ICD-10, OMIM
Hypomyelination with atrophy of basal ganglia and cerebellum 139441 A rare disorder characterized by slowly… Orphanet, OMIM, OMIM, ICD-10
Progressive cavitating leukoencephalopathy 139447 A rare leukoencephalopathy… Orphanet, ICD-10
Autosomal recessive bestrophinopathy 139455 A rare retinal dystrophy, characterized… Orphanet, ICD-10, OMIM
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