Cornea plana 1, autosomal dominant

Preferred Label : Cornea plana 1, autosomal dominant;

Symbol : CNA1;

CISMeF acronym : CNA1;

Type : Phenotype or locus, molecular basis unknown;

Description : Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. An autosomal dominant form, CNA1, is mild, whereas an autosomal recessive form (CNA2; 217300) is severe and frequently associated with additional ocular manifestations (Tahvanainen et al., 1996).;

Inheritance : Autosomal dominant form; also a recessive form;

Prefixed ID : %121400;

Détails

Origin ID

121400;

UMLS CUI

C1852557;

Automatic exact mappings (from CISMeF team)
- PPP3CA wt Allele [NCIt concept]
- protein phosphatase 3 catalytic subunit alpha [ORDO Gene]
- protein phosphatase 3 catalytic subunit alpha [HGNC gene]
Broader ORDO disease(s)
- Congenital cornea plana [ORDO Disease]
Currated CISMeF NLP mapping
- cornea plana 1 [Disease (Nov.)]
- cornea plana 1 [MeSH concept]
- cornea plana 1 [MeSH Supplementary Concept]
DO Cross reference
- cornea plana [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Flat cornea [HPO term]
ORDO concept(s)
- Congenital cornea plana [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cornea plana 1 [MeSH Supplementary Concept]
- cornea plana 1 [MeSH concept]
- cornea plana 1 [Disease (Nov.)]
Validated automatic mappings to NTBT
- Congenital cornea plana [ORDO Disease]

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

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