Achromatopsia 2

Preferred Label : Achromatopsia 2;

NCIt synonyms : ACHM2;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CNGA3 gene, encoding cyclic nucleotide-gated cation channel subunit alpha-3. It is characterized by achromatopsia.;

Détails

Origin ID

C168757;

UMLS CUI

C1857618;

Currated CISMeF NLP mapping
- Achromatopsia 2 [OMIM Phenotype]
- Achromatopsia 2 [MeSH concept]
- achromatopsia 2 [DO Concept]
- achromatopsia 2 [MeSH Supplementary Concept]
- achromatopsia 2 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Achromatopsia 2 [OMIM Phenotype]
- Achromatopsia 2 [MeSH concept]
- achromatopsia 2 [DO Concept]
- achromatopsia 2 [MeSH Supplementary Concept]
- achromatopsia 2 [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CNGA3 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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