Amelogenesis imperfecta, type ic

Preferred Label : Amelogenesis imperfecta, type ic;

Symbol : AI1C;

CISMeF acronym : AI1C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amelogenesis imperfecta, local hypoplastic type, autosomal recessive; Amelogenesis imperfecta, hypoplastic, with or without open-bite malocclusion, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the enamelin gene (ENAM, 606585.0003);

Prefixed ID : #204650;

Details

Origin ID

204650;

UMLS CUI

C2673923;

Automatic exact mappings (from CISMeF team)
- amelogenesis imperfecta type 1C [DO Concept]
Broader ORDO disease(s)
- Hypoplastic amelogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- amelogenesis imperfecta, type ic [MeSH concept]
- amelogenesis imperfecta, type ic [MeSH Supplementary Concept]
DO Cross reference
- amelogenesis imperfecta type 1C [DO Concept]
Genes related to phenotype
- Enamelin [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Anterior open-bite malocclusion [HPO term]
- Autosomal recessive inheritance [HPO term]
- Enamel hypomineralization [HPO term]
- Heterogeneous [HPO term]
- Usually autosomal dominant [HPO term]
- Yellow-brown discoloration of the teeth [HPO term]
ORDO concept(s)
- Amelogenesis imperfecta [ORDO Disease]
- Hypoplastic amelogenesis imperfecta [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- amelogenesis imperfecta, type ic [MeSH Supplementary Concept]
- amelogenesis imperfecta, type ic [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients