Amelogenesis imperfecta, hypomaturation type, iia2

Preferred Label : Amelogenesis imperfecta, hypomaturation type, iia2;

Symbol : AI2A2;

CISMeF acronym : AI2A2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amelogenesis imperfecta, pigmented hypomaturation type, 2;

Description : Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the matrix metalloproteinase-20 gene (MMP20, 604629.0001);

Prefixed ID : #612529;

Details

Origin ID

612529;

UMLS CUI

C2675858;

Currated CISMeF NLP mapping
- amelogenesis imperfecta hypomaturation type 2A2 [DO Concept]
- amelogenesis imperfecta, hypomaturation type, Iia2 [MeSH concept]
- amelogenesis imperfecta, hypomaturation type, Iia2 [MeSH Supplementary Concept]
DO Cross reference
- amelogenesis imperfecta hypomaturation type 2A2 [DO Concept]
Genes related to phenotype
- Matrix metalloproteinase 20 [OMIM gene]
HPO term(s)
- Abnormal dental enamel morphology [HPO term]
- Amelogenesis imperfecta [HPO term]
- Anterior open bite [HPO term]
- Anterior open-bite malocclusion [HPO term]
- Autosomal recessive inheritance [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 2A2 [DO Concept]
- amelogenesis imperfecta, hypomaturation type, Iia2 [MeSH Supplementary Concept]
- amelogenesis imperfecta, hypomaturation type, Iia2 [MeSH concept]

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