Leber congenital amaurosis 2
Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has material basis in mutation in the RPE65 gene on chromosome 1
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Leber congenital amaurosis 2
Summary
Leber congenital amaurosis 2 is a rare disease[1].
Key Facts
- Leber congenital amaurosis 2's instance of is recorded as rare disease[2].
- Leber congenital amaurosis 2's instance of is recorded as class of disease[3].
- Leber congenital amaurosis 2's subclass of is recorded as Leber congenital amaurosis[4].
- Leber congenital amaurosis 2's subclass of is recorded as genetic disease[5].
- Leber congenital amaurosis 2's MeSH descriptor ID is recorded as C536601[6].
- Leber congenital amaurosis 2's OMIM ID is recorded as 204100[7].
- Leber congenital amaurosis 2's Disease Ontology ID is recorded as DOID:0110016[8].
- Leber congenital amaurosis 2's genetic association is recorded as RPE65[9].
- Leber congenital amaurosis 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110016[10].
- Leber congenital amaurosis 2's exact match is recorded as http://identifiers.org/doid/DOID:0110016[11].
- Leber congenital amaurosis 2's UMLS CUI is recorded as C1859844[12].
- Leber congenital amaurosis 2's ICD-10-CM is recorded as H35.5[13].
- Leber congenital amaurosis 2's GARD rare disease ID is recorded as 636[14].
- Leber congenital amaurosis 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Leber congenital amaurosis 2's Mondo ID is recorded as MONDO_0008765[16].
- Leber congenital amaurosis 2's UniProt disease ID is recorded as DI-00630[17].