Achromatopsia 7

Preferred Label : Achromatopsia 7;

Symbol : ACHM7;

CISMeF acronym : ACHM7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the activating transcription factor-6 gene (ATF6, 605537.0001);

Prefixed ID : #616517;

Details

Origin ID

616517;

UMLS CUI

C4225297;

Currated CISMeF NLP mapping
- achromatopsia 7 [DO Concept]
DO Cross reference
- achromatopsia 7 [DO Concept]
Genes related to phenotype
- Activating transcription factor 6 [OMIM gene]
HPO term(s)
- Absent foveal reflex [HPO term]
- Achromatopsia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Central scotoma [HPO term]
- Hypoplasia of the fovea [HPO term]
- Macular atrophy [HPO term]
- Nystagmus [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
ORDO concept(s)
- Achromatopsia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- achromatopsia 7 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients