Cornea plana 2, autosomal recessive

Preferred Label : Cornea plana 2, autosomal recessive;

Symbol : CNA2;

CISMeF acronym : CNA2;

Type : Phenotype, molecular basis known;

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; 121400) is mild, whereas an autosomal recessive form (CNA2) is severe and frequently associated with additional ocular manifestations (Tahvanainen et al., 1996).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the keratocan gene (KERA, 603288.0001);

Prefixed ID : #217300;

Details

Origin ID

217300;

UMLS CUI

C1857574;

Broader ORDO disease(s)
- Congenital cornea plana [ORDO Disease]
Currated CISMeF NLP mapping
- cornea plana 2 [Disease (Nov.)]
- cornea plana 2 [MeSH concept]
- cornea plana 2 [MeSH Supplementary Concept]
DO Cross reference
- cornea plana [DO Concept]
Genes related to phenotype
- Keratocan [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Corneal arcus [HPO term]
- Corneal parenchymal opacities [HPO term]
- Decreased corneal thickness [HPO term]
- Flat cornea [HPO term]
- Hypermetropia [HPO term]
ORDO concept(s)
- Congenital cornea plana [ORDO Disease]
See also inter- (CISMeF)
- PPP3CB wt Allele [NCIt concept]
- PPP3R1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cornea plana 2 [MeSH Supplementary Concept]
- cornea plana 2 [MeSH concept]
- cornea plana 2 [Disease (Nov.)]
Validated automatic mappings to NTBT
- Congenital cornea plana [ORDO Disease]
- cornea plana [DO Concept]

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