achromatopsia 2
achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11
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Summary
achromatopsia 2 is a class of disease[1].
Key Facts
- achromatopsia 2's instance of is recorded as class of disease[2].
- achromatopsia 2's subclass of is recorded as achromatopsia[3].
- achromatopsia 2's subclass of is recorded as autosomal recessive disease[4].
- achromatopsia 2's OMIM ID is recorded as 216900[5].
- achromatopsia 2's Disease Ontology ID is recorded as DOID:0110007[6].
- achromatopsia 2's NCI Thesaurus ID is recorded as C168757[7].
- achromatopsia 2's genetic association is recorded as CNGA3[8].
- achromatopsia 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110007[9].
- achromatopsia 2's exact match is recorded as http://identifiers.org/doid/DOID:0110007[10].
- achromatopsia 2's UMLS CUI is recorded as C1857618[11].
- achromatopsia 2's GARD rare disease ID is recorded as 9649[12].
- achromatopsia 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- achromatopsia 2's Mondo ID is recorded as MONDO_0009003[14].
- achromatopsia 2's UniProt disease ID is recorded as DI-00022[15].