Amelogenesis imperfecta, type ih

Preferred Label : Amelogenesis imperfecta, type ih;

Symbol : AI1H;

CISMeF acronym : AI1H;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the integrin beta-6 gene (ITGB6, 147558.0001);

Prefixed ID : #616221;

Details

Origin ID

616221;

UMLS CUI

C4015557;

Automatic exact mappings (from CISMeF team)
- ITGB6 wt Allele [NCIt concept]
- amelogenesis imperfecta type 1H [DO Concept]
DO Cross reference
- amelogenesis imperfecta type 1H [DO Concept]
Genes related to phenotype
- Integrin, beta-6 [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Anterior open bite [HPO term]
- Anterior open-bite malocclusion [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dental enamel pits [HPO term]
- Enamel hypoplasia [HPO term]
- Yellow-brown discoloration of the teeth [HPO term]
ORDO concept(s)
- Amelogenesis imperfecta [ORDO Disease]
- Hypocalcified amelogenesis imperfecta [ORDO Disease]
- Hypoplastic amelogenesis imperfecta [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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