Amelogenesis imperfecta, hypomaturation type, iia5

Preferred Label : Amelogenesis imperfecta, hypomaturation type, iia5;

Symbol : AI2A5;

CISMeF acronym : AI2A5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 gene (SLC24A4, 609840.0002);

Prefixed ID : #615887;

Details

Origin ID

615887;

UMLS CUI

C4014578;

Automatic exact mappings (from CISMeF team)
- SLC24A4 wt Allele [NCIt concept]
CISMeF manual mappings
- amelogenesis imperfecta hypomaturation type 2A5 [DO Concept]
DO Cross reference
- amelogenesis imperfecta hypomaturation type 2A5 [DO Concept]
Genes related to phenotype
- Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [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 2A5 [DO Concept]

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