Anterior segment dysgenesis 1

Preferred Label : Anterior segment dysgenesis 1;

Symbol : ASGD1;

CISMeF acronym : ASGD1; ASMD; ASOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ASMD; Anterior segment ocular dysgenesis; ASOD; Anterior segment mesenchymal dysgenesis;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the paired-like homeodomain transcription factor-3 gene (PITX3, 602669.0001);

Prefixed ID : #107250;

Détails

Origin ID

107250;

UMLS CUI

C4551992;

Automatic exact mappings (from CISMeF team)
- Acid sphingomyelinase deficiency [ORDO Disease]
- Anterior segment mesencyhmal dysgenesis [HPO term]
- Axenfeld-Rieger syndrome type 3 [DO Concept]
- anterior segment dysgenesis 1 [DO Concept]
Currated CISMeF NLP mapping
- Anterior segment developmental anomaly [ORDO Disease]
- Anterior segment mesenchymal dysgenesis [MeSH concept]
- Irido-corneal dysgenesis (disorder) [SNOMED CT concept]
- Ocular anterior segment dysgenesis [HPO term]
- anterior segment dysgenesis [Disease (Nov.)]
- anterior segment mesenchymal dysgenesis [DO Concept]
- anterior segment mesenchymal dysgenesis [MeSH Supplementary Concept]
- irido-corneal dysgenesis [SNOMED Notion]
DO Cross reference
- anterior segment dysgenesis 1 [DO Concept]
Genes related to phenotype
- Paired-like homeodomain transcription factor 3 [OMIM gene]
HPO term(s)
- Anterior segment mesencyhmal dysgenesis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Corneal opacity [HPO term]
- Microcornea [HPO term]
- Ocular anterior segment dysgenesis [HPO term]
- Ocular hypertension [HPO term]
- Opacification of the corneal stroma [HPO term]
- Peters anomaly [HPO term]
- Posterior polar cataract [HPO term]
ORDO concept(s)
- Anterior segment developmental anomaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anterior segment developmental anomaly [ORDO Disease]
- Anterior segment mesenchymal dysgenesis [MeSH concept]
- anterior segment mesenchymal dysgenesis [MeSH Supplementary Concept]
- anterior segment mesenchymal dysgenesis [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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