Amelogenesis imperfecta, type iv

Preferred Label : Amelogenesis imperfecta, type iv;

Symbol : AI4;

CISMeF acronym : AIHHT; AI4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; AIHHT;

Inheritance : Autosomal dominant;

Prefixed ID : #104510;

Détails

Origin ID

104510;

UMLS CUI

C1863012;

Automatic exact mappings (from CISMeF team)
- amelogenesis imperfecta type 4 [DO Concept]
Currated CISMeF NLP mapping
- Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism (disorder) [SNOMED CT concept]
- Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism [ORDO Disease]
- amelogenesis imperfecta, type IV [MeSH concept]
- amelogenesis imperfecta, type IV [MeSH Supplementary Concept]
DO Cross reference
- amelogenesis imperfecta type 4 [DO Concept]
Genes related to phenotype
- Distal-less homeobox 3 [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Autosomal dominant inheritance [HPO term]
- Enamel hypoplasia [HPO term]
- Taurodontia [HPO term]
- Yellow-brown discoloration of the teeth [HPO term]
ORDO concept(s)
- Amelogenesis imperfecta [ORDO Disease]
- Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism [ORDO Disease]
- amelogenesis imperfecta, type IV [MeSH Supplementary Concept]
- amelogenesis imperfecta, type IV [MeSH concept]

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