hypomyelinating leukodystrophy 5
Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit
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hypomyelinating leukodystrophy 5
Summary
hypomyelinating leukodystrophy 5 is a rare disease[1].
Key Facts
- hypomyelinating leukodystrophy 5's instance of is recorded as rare disease[2].
- hypomyelinating leukodystrophy 5's instance of is recorded as class of disease[3].
- hypomyelinating leukodystrophy 5's subclass of is recorded as hypomyelinating leukodystrophy[4].
- hypomyelinating leukodystrophy 5's subclass of is recorded as nervous system heredodegenerative disease[5].
- hypomyelinating leukodystrophy 5's subclass of is recorded as eye degenerative disease[6].
- hypomyelinating leukodystrophy 5's subclass of is recorded as syndromic cataract[7].
- hypomyelinating leukodystrophy 5's subclass of is recorded as genetic syndromic intellectual disability[8].
- hypomyelinating leukodystrophy 5's subclass of is recorded as autosomal recessive disease[9].
- hypomyelinating leukodystrophy 5's MeSH descriptor ID is recorded as C567166[10].
- hypomyelinating leukodystrophy 5's OMIM ID is recorded as 610532[11].
- hypomyelinating leukodystrophy 5's Disease Ontology ID is recorded as DOID:0060793[12].
- hypomyelinating leukodystrophy 5's Orphanet ID is recorded as 85163[13].
- hypomyelinating leukodystrophy 5's ICD-9-CM is recorded as 341.8[14].
- hypomyelinating leukodystrophy 5's health specialty is recorded as neurology[15].
- hypomyelinating leukodystrophy 5's genetic association is recorded as FAM126A[16].
- hypomyelinating leukodystrophy 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060793[17].
- hypomyelinating leukodystrophy 5's exact match is recorded as http://identifiers.org/doid/DOID:0060793[18].
- hypomyelinating leukodystrophy 5's UMLS CUI is recorded as C1864663[19].
- hypomyelinating leukodystrophy 5's UMLS CUI is recorded as C2674508[20].
- hypomyelinating leukodystrophy 5's ICD-10-CM is recorded as G37.8[21].
- hypomyelinating leukodystrophy 5's GARD rare disease ID is recorded as 11980[22].
- hypomyelinating leukodystrophy 5's on focus list of Wikimedia project is recorded as WikiProject Medicine[23].
- hypomyelinating leukodystrophy 5's Mondo ID is recorded as MONDO_0012514[24].
- hypomyelinating leukodystrophy 5's Genetics Home Reference Conditions ID is recorded as hypomyelination-and-congenital-cataract[25].
- hypomyelinating leukodystrophy 5's UniProt disease ID is recorded as DI-00651[26].