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hypomyelinating leukodystrophy 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.
Uniprot Description An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity.
Disease Ontology Description A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060787
MESH:C563855
OMIM:608804
Orphanet:280282
UMLS:C1837355
MONDO:0012125
High level summary of knowledge for a disease, including descriptions and datasource references.