Leber congenital amaurosis 5
Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has material basis in mutation in the LCA5 gene on chromosome 6q14.1
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Leber congenital amaurosis 5
Summary
Leber congenital amaurosis 5 is a rare disease[1].
Key Facts
- Leber congenital amaurosis 5's instance of is recorded as rare disease[2].
- Leber congenital amaurosis 5's instance of is recorded as class of disease[3].
- Leber congenital amaurosis 5's subclass of is recorded as Leber congenital amaurosis[4].
- Leber congenital amaurosis 5's subclass of is recorded as genetic disease[5].
- Leber congenital amaurosis 5's subclass of is recorded as autosomal recessive disease[6].
- Leber congenital amaurosis 5's MeSH descriptor ID is recorded as C536602[7].
- Leber congenital amaurosis 5's OMIM ID is recorded as 604537[8].
- Leber congenital amaurosis 5's Disease Ontology ID is recorded as DOID:0110215[9].
- Leber congenital amaurosis 5's genetic association is recorded as LCA5[10].
- Leber congenital amaurosis 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110215[11].
- Leber congenital amaurosis 5's exact match is recorded as http://identifiers.org/doid/DOID:0110215[12].
- Leber congenital amaurosis 5's UMLS CUI is recorded as C1858301[13].
- Leber congenital amaurosis 5's ICD-10-CM is recorded as H35.5[14].
- Leber congenital amaurosis 5's GARD rare disease ID is recorded as 9983[15].
- Leber congenital amaurosis 5's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- Leber congenital amaurosis 5's Mondo ID is recorded as MONDO_0011473[17].
- Leber congenital amaurosis 5's UniProt disease ID is recorded as DI-00633[18].