Amelogenesis imperfecta, type if

Preferred Label : Amelogenesis imperfecta, type if;

Symbol : AI1F;

CISMeF acronym : AI1F;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ameloblastin gene (AMBN, 601259.0001);

Prefixed ID : #616270;

Details

Origin ID

616270;

UMLS CUI

C4225394;

Automatic exact mappings (from CISMeF team)
- Amelogenesis imperfecta, hypoplastic type (disorder) [SNOMED CT concept]
- amelogenesis imperfecta local hypoplastic form [MeSH Supplementary Concept]
- amelogenesis imperfecta type 1F [DO Concept]
DO Cross reference
- amelogenesis imperfecta type 1F [DO Concept]
Genes related to phenotype
- Ameloblastin enamel matrix protein [OMIM gene]
HPO term(s)
- Abnormality of dental color [HPO term]
- Amelogenesis imperfecta [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dental enamel pits [HPO term]
- Enamel hypoplasia [HPO term]
- Infantile onset [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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