congenital stationary night blindness 1G
congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21
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congenital stationary night blindness 1G
Summary
congenital stationary night blindness 1G is a rare disease[1].
Key Facts
- congenital stationary night blindness 1G's instance of is recorded as rare disease[2].
- congenital stationary night blindness 1G's instance of is recorded as class of disease[3].
- congenital stationary night blindness 1G's subclass of is recorded as congenital stationary night blindness[4].
- congenital stationary night blindness 1G's subclass of is recorded as genetic disease[5].
- congenital stationary night blindness 1G's subclass of is recorded as autosomal recessive disease[6].
- congenital stationary night blindness 1G's OMIM ID is recorded as 616389[7].
- congenital stationary night blindness 1G's OMIM ID is recorded as 616389[8].
- congenital stationary night blindness 1G's Disease Ontology ID is recorded as DOID:0110714[9].
- congenital stationary night blindness 1G's genetic association is recorded as GNAT1[10].
- congenital stationary night blindness 1G's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110714[11].
- congenital stationary night blindness 1G's exact match is recorded as http://identifiers.org/doid/DOID:0110714[12].
- congenital stationary night blindness 1G's UMLS CUI is recorded as C4225345[13].
- congenital stationary night blindness 1G's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- congenital stationary night blindness 1G's Mondo ID is recorded as MONDO_0014614[15].
- congenital stationary night blindness 1G's UniProt disease ID is recorded as DI-04432[16].