Amelogenesis imperfecta, type ib

Preferred Label : Amelogenesis imperfecta, type ib;

Symbol : AI1B;

CISMeF acronym : AIH2; AI1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Enamel hypoplasia, hereditary localized; Amelogenesis imperfecta, hypoplastic local, autosomal dominant; AIH2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the enamelin gene (ENAM, 606585.0001);

Prefixed ID : #104500;

Details

Origin ID

104500;

UMLS CUI

C0399368;

Automatic exact mappings (from CISMeF team)
- amelogenesis imperfecta type 1B [DO Concept]
Broader ORDO disease(s)
- Hypoplastic amelogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- Amelogenesis imperfecta - hypoplastic autosomal dominant - local (disorder) [SNOMED CT concept]
- amelogenesis imperfecta, type IB [MeSH concept]
- amelogenesis imperfecta, type IB [MeSH Supplementary Concept]
DO Cross reference
- amelogenesis imperfecta type 1B [DO Concept]
Genes related to phenotype
- Enamelin [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Autosomal dominant inheritance [HPO term]
ORDO concept(s)
- Amelogenesis imperfecta [ORDO Disease]
- Hypoplastic amelogenesis imperfecta [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amelogenesis imperfecta - hypoplastic autosomal dominant - local (disorder) [SNOMED CT concept]
- amelogenesis imperfecta, type IB [MeSH Supplementary Concept]
- amelogenesis imperfecta, type IB [MeSH concept]

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