Cone-rod dystrophy 9

Preferred Label : Cone-rod dystrophy 9;

Symbol : CORD9;

CISMeF acronym : CORD9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the a disintegrin and metalloproteinase domain-9 gene (ADAM9, 602713.0001);

Prefixed ID : #612775;

Détails

Origin ID

612775;

UMLS CUI

C1423873;

Automatic exact mappings (from CISMeF team)
- ADAM9 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- cone-rod dystrophy 9 [DO Concept]
DO Cross reference
- cone-rod dystrophy 9 [DO Concept]
Genes related to phenotype
- A disintegrin and metalloproteinase domain 9 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cone-rod dystrophy 9 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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

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