Leber congenital amaurosis 10
Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has material basis in mutation in the CEP290 gene on chromosome 12q21.32
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Leber congenital amaurosis 10
Summary
Leber congenital amaurosis 10 is a rare disease[1].
Key Facts
- Leber congenital amaurosis 10's instance of is recorded as rare disease[2].
- Leber congenital amaurosis 10's instance of is recorded as class of disease[3].
- Leber congenital amaurosis 10's subclass of is recorded as Leber congenital amaurosis[4].
- Leber congenital amaurosis 10's subclass of is recorded as genetic disease[5].
- Leber congenital amaurosis 10's MeSH descriptor ID is recorded as C565720[6].
- Leber congenital amaurosis 10's OMIM ID is recorded as 611755[7].
- Leber congenital amaurosis 10's Disease Ontology ID is recorded as DOID:0110291[8].
- Leber congenital amaurosis 10's genetic association is recorded as IQCB1[9].
- Leber congenital amaurosis 10's genetic association is recorded as CEP290[10].
- Leber congenital amaurosis 10's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110291[11].
- Leber congenital amaurosis 10's exact match is recorded as http://identifiers.org/doid/DOID:0110291[12].
- Leber congenital amaurosis 10's UMLS CUI is recorded as C1857821[13].
- Leber congenital amaurosis 10's ICD-10-CM is recorded as H35.5[14].
- Leber congenital amaurosis 10's GARD rare disease ID is recorded as 10487[15].
- Leber congenital amaurosis 10's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- Leber congenital amaurosis 10's Mondo ID is recorded as MONDO_0012723[17].
- Leber congenital amaurosis 10's UniProt disease ID is recorded as DI-00637[18].