Leber congenital amaurosis 6
Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has material basis in mutation in the RPGRIP1 gene on chromosome 14q11
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Leber congenital amaurosis 6
Summary
Leber congenital amaurosis 6 is a rare disease[1].
Key Facts
- Leber congenital amaurosis 6's instance of is recorded as rare disease[2].
- Leber congenital amaurosis 6's instance of is recorded as class of disease[3].
- Leber congenital amaurosis 6's subclass of is recorded as Leber congenital amaurosis[4].
- Leber congenital amaurosis 6's subclass of is recorded as genetic disease[5].
- Leber congenital amaurosis 6's subclass of is recorded as autosomal recessive disease[6].
- Leber congenital amaurosis 6's MeSH descriptor ID is recorded as C565327[7].
- Leber congenital amaurosis 6's OMIM ID is recorded as 605446[8].
- Leber congenital amaurosis 6's OMIM ID is recorded as 613826[9].
- Leber congenital amaurosis 6's Disease Ontology ID is recorded as DOID:0110329[10].
- Leber congenital amaurosis 6's genetic association is recorded as RPGRIP1[11].
- Leber congenital amaurosis 6's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110329[12].
- Leber congenital amaurosis 6's exact match is recorded as http://identifiers.org/doid/DOID:0110329[13].
- Leber congenital amaurosis 6's UMLS CUI is recorded as C1854260[14].
- Leber congenital amaurosis 6's ICD-10-CM is recorded as H35.5[15].
- Leber congenital amaurosis 6's GARD rare disease ID is recorded as 10490[16].
- Leber congenital amaurosis 6's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- Leber congenital amaurosis 6's Mondo ID is recorded as MONDO_0013446[18].
- Leber congenital amaurosis 6's UniProt disease ID is recorded as DI-00634[19].