Preferred Label : Amelogenesis imperfecta, type ie;
Symbol : AI1E;
CISMeF acronym : AIH1; AI1E;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1; Amelogenesis imperfecta, X-linked 1; Enamel hypoplasia, X-linked 1; Amelogenesis imperfecta, hypomaturation type, with snow-capped teeth; AIH1;
Description : Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows
both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel
is of normal hardness but does not develop to normal thickness. The thinness of the
enamel makes the teeth appear small. Radiographically, enamel contrasts normally from
dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local
forms (Witkop, 1989).;
Inheritance : X-linked dominant;
Molecular basis : Caused by mutation in the amelogenin gene (AMELX, 300391.0001);
Prefixed ID : #301200;
Origin ID : 301200;
UMLS CUI : C1845053;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- CISMeF manual mappings
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
