Amelogenesis imperfecta, type ia

Preferred Label : Amelogenesis imperfecta, type ia;

Symbol : AI1A;

CISMeF acronym : AI1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amelogenesis imperfecta, hypoplastic type ia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta-3 laminin gene (LAMB3, 150310.0017);

Prefixed ID : #104530;

Details

Origin ID

104530;

UMLS CUI

C4011403;

Automatic exact mappings (from CISMeF team)
- amelogenesis imperfecta type 1A [DO Concept]
Broader ORDO disease(s)
- Hypoplastic amelogenesis imperfecta [ORDO Disease]
DO Cross reference
- amelogenesis imperfecta type 1A [DO Concept]
Genes related to phenotype
- Laminin, beta-3 [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Autosomal dominant inheritance [HPO term]
- Generalized microdontia [HPO term]
- Taurodontia [HPO term]
Not associated HPO term(s)
- Abnormality of the skin [HPO term]
ORDO concept(s)
- Amelogenesis imperfecta [ORDO Disease]
- Hypoplastic amelogenesis imperfecta [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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