Achromatopsia 5

Preferred Label : Achromatopsia 5;

NCIt synonyms : ACHM5;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PDE6C gene, encoding cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha. It is characterized by low visual acuity and severe color vision defects. This condition is closely related to cone dystrophy 4, which is also caused by mutation(s) in the PDE6C gene.;

Details

Origin ID

C164226;

UMLS CUI

C2751309;

Currated CISMeF NLP mapping
- achromatopsia 5 [MeSH Supplementary Concept]
- achromatopsia 5 [MeSH concept]
See also inter- (CISMeF)
- phosphodiesterase 6C [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- achromatopsia 5 [MeSH Supplementary Concept]
- achromatopsia 5 [MeSH concept]
Validated automatic mappings to NTBT
- Cone dystrophy 4 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PDE6C Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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