Amelogenesis imperfecta, hypomaturation type, iia3

Preferred Label : Amelogenesis imperfecta, hypomaturation type, iia3;

Symbol : AI2A3;

CISMeF acronym : AI2A3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein 72 gene (WDR72, 613214.0001);

Prefixed ID : #613211;

Details

Origin ID

613211;

UMLS CUI

C2750771;

Currated CISMeF NLP mapping
- amelogenesis imperfecta hypomaturation type 2A3 [DO Concept]
- amelogenesis imperfecta, hypomaturation type, Iia3 [MeSH concept]
- amelogenesis imperfecta, hypomaturation type, Iia3 [MeSH Supplementary Concept]
DO Cross reference
- amelogenesis imperfecta hypomaturation type 2A3 [DO Concept]
Genes related to phenotype
- Wd repeat-containing protein 72 [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Autosomal recessive inheritance [HPO term]
- Enamel hypomineralization [HPO term]
- Hypomature dental enamel [HPO term]
ORDO concept(s)
- Amelogenesis imperfecta [ORDO Disease]
- Hypomaturation amelogenesis imperfecta [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- amelogenesis imperfecta hypomaturation type 2A3 [DO Concept]
- amelogenesis imperfecta, hypomaturation type, Iia3 [MeSH Supplementary Concept]
- amelogenesis imperfecta, hypomaturation type, Iia3 [MeSH concept]

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