congenital stationary night blindness 1C
congenital stationary night blindness characterized by autosomal recessive that has material basis in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14
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congenital stationary night blindness 1C
Summary
congenital stationary night blindness 1C is a rare disease[1].
Key Facts
- congenital stationary night blindness 1C's instance of is recorded as rare disease[2].
- congenital stationary night blindness 1C's instance of is recorded as class of disease[3].
- congenital stationary night blindness 1C's subclass of is recorded as congenital stationary night blindness[4].
- congenital stationary night blindness 1C's subclass of is recorded as genetic disease[5].
- congenital stationary night blindness 1C's subclass of is recorded as autosomal recessive disease[6].
- congenital stationary night blindness 1C's MeSH descriptor ID is recorded as C567704[7].
- congenital stationary night blindness 1C's OMIM ID is recorded as 613216[8].
- congenital stationary night blindness 1C's Disease Ontology ID is recorded as DOID:0110867[9].
- congenital stationary night blindness 1C's genetic association is recorded as TRPM1[10].
- congenital stationary night blindness 1C's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110867[11].
- congenital stationary night blindness 1C's exact match is recorded as http://identifiers.org/doid/DOID:0110867[12].
- congenital stationary night blindness 1C's UMLS CUI is recorded as C2750747[13].
- congenital stationary night blindness 1C's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- congenital stationary night blindness 1C's Mondo ID is recorded as MONDO_0013183[15].
- congenital stationary night blindness 1C's UniProt disease ID is recorded as DI-02588[16].