Leber congenital amaurosis 16
Leber congenital amaurosis that has material basis in mutation in the KCNJ13 gene on chromosome 2q37
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Leber congenital amaurosis 16
Summary
Leber congenital amaurosis 16 is a rare disease[1].
Key Facts
- Leber congenital amaurosis 16's instance of is recorded as rare disease[2].
- Leber congenital amaurosis 16's instance of is recorded as class of disease[3].
- Leber congenital amaurosis 16's subclass of is recorded as Leber congenital amaurosis[4].
- Leber congenital amaurosis 16's subclass of is recorded as genetic disease[5].
- Leber congenital amaurosis 16's OMIM ID is recorded as 614186[6].
- Leber congenital amaurosis 16's Disease Ontology ID is recorded as DOID:0110118[7].
- Leber congenital amaurosis 16's genetic association is recorded as KCNJ13[8].
- Leber congenital amaurosis 16's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110118[9].
- Leber congenital amaurosis 16's exact match is recorded as http://identifiers.org/doid/DOID:0110118[10].
- Leber congenital amaurosis 16's UMLS CUI is recorded as C3280062[11].
- Leber congenital amaurosis 16's ICD-10-CM is recorded as H35.5[12].
- Leber congenital amaurosis 16's GARD rare disease ID is recorded as 10885[13].
- Leber congenital amaurosis 16's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- Leber congenital amaurosis 16's Mondo ID is recorded as MONDO_0013613[15].
- Leber congenital amaurosis 16's UniProt disease ID is recorded as DI-03236[16].