Keratitis, hereditary

Preferred Label : Keratitis, hereditary;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Prefixed ID : #148190;

Détails

Origin ID

148190;

UMLS CUI

C1835698;

Currated CISMeF NLP mapping
- Autosomal dominant keratitis (disorder) [SNOMED CT concept]
- Keratitis, hereditary [MeSH concept]
- autosomal dominant keratitis [DO Concept]
- hereditary keratitis [Disease (Nov.)]
- keratitis, hereditary [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant keratitis [DO Concept]
Genes related to phenotype
- Paired box gene 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hereditary childhood corneal clouding [HPO term]
- Keratitis [HPO term]
- Opacification of the corneal stroma [HPO term]
ORDO concept(s)
- Autosomal dominant keratitis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant keratitis [ORDO Disease]
- Autosomal dominant keratitis (disorder) [SNOMED CT concept]
- Keratitis, hereditary [MeSH concept]
- autosomal dominant keratitis [DO Concept]
- keratitis, hereditary [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Autosomal dominant keratitis [ORDO Disease]

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