Achromatopsia 4

Preferred Label : Achromatopsia 4;

Symbol : ACHM4;

CISMeF acronym : ACHM4;

Type : Phenotype, molecular basis known;

Description : Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus (Kohl et al., 2002). For a general description and a discussion of genetic heterogeneity of achromatopsia, see 216900.;

Prefixed ID : #613856;

Détails

Origin ID

613856;

UMLS CUI

C1841721;

Automatic exact mappings (from CISMeF team)
- G protein subunit alpha transducin 2 [ORDO Gene]
- G protein subunit alpha transducin 2 [HGNC gene]
Currated CISMeF NLP mapping
- achromatopsia 4 [DO Concept]
- achromatopsia 4 [Disease (Nov.)]
- achromatopsia 4 [MeSH concept]
- achromatopsia 4 [MeSH Supplementary Concept]
DO Cross reference
- achromatopsia 4 [DO Concept]
Genes related to phenotype
- Guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 [OMIM gene]
HPO term(s)
- Achromatopsia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Nystagmus [HPO term]
- Photophobia [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Achromatopsia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- achromatopsia 4 [MeSH Supplementary Concept]
- achromatopsia 4 [MeSH concept]
- achromatopsia 4 [DO Concept]
- achromatopsia 4 [Disease (Nov.)]

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