Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2

Preferred Label : Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2;

CISMeF acronym : AIH3;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Enamel hypoplasia, X-linked 2; Amelogenesis imperfecta 3, hypoplastic type; AIH3;

Description : For a description of hypoplastic/hypomaturation amelogenesis imperfecta, see 301200.;

Inheritance : X-linked;

Prefixed ID : %301201;

Détails

Origin ID

301201;

UMLS CUI

C1845051;

Automatic exact mappings (from CISMeF team)
- amelogenesis imperfecta type 1E [DO Concept]
- burnett schwartz berberian syndrome [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Hypoplastic amelogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- Amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2 [MeSH concept]
- X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [DO Concept]
DO Cross reference
- X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [DO Concept]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- X-linked inheritance [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, hypoplastic-hypomaturation, X-linked 2 [MeSH concept]
- X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [DO Concept]

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