Corneal dystrophy, meesmann, 2

Preferred Label : Corneal dystrophy, meesmann, 2;

Symbol : MECD2;

CISMeF acronym : MECD2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 3, type II gene (KRT3, 148043.0001);

Prefixed ID : #618767;

Details

Origin ID

618767;

UMLS CUI

C5231495;

Currated CISMeF NLP mapping
- Meesmann corneal dystrophy 2 [DO Concept]
DO Cross reference
- Meesmann corneal dystrophy 2 [DO Concept]
Genes related to phenotype
- Keratin 3, type II [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Epiphora [HPO term]
- Photophobia [HPO term]
- Recurrent corneal erosions [HPO term]
ORDO concept(s)
- Meesmann corneal dystrophy [ORDO Disease]
See also inter- (CISMeF)
- KRT3 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Meesmann corneal dystrophy [ORDO Disease]

Keyword's position in hierarchy(ies) :

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