Anterior segment dysgenesis 4

Preferred Label : Anterior segment dysgenesis 4;

Symbol : ASGD4;

CISMeF acronym : ASGD4; IGDS; IHGA; IRID2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : IGDS; Iridogoniodysgenesis, type 2; Iris hypoplasia with early-onset glaucoma, autosomal dominant; Iridogoniodysgenesis syndrome; IRID2; IHGA;

Inheritance : Autosomal dominant;

Prefixed ID : #137600;

Détails

Origin ID

137600;

UMLS CUI

C1842031;

Automatic exact mappings (from CISMeF team)
- PITX2 wt Allele [NCIt concept]
- anterior segment dysgenesis 4 [DO Concept]
- iridogoniodysgenesis syndrome [DO Concept]
- paired like homeodomain 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Iridogoniodysgenesis, dominant type [MeSH concept]
- iridogoniodysgenesis, dominant type [MeSH Supplementary Concept]
DO Cross reference
- anterior segment dysgenesis 4 [DO Concept]
- iridogoniodysgenesis syndrome [DO Concept]
Genes related to phenotype
- Paired-like homeodomain transcription factor 2 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the dentition [HPO term]
- Autosomal dominant inheritance [HPO term]
- Craniofacial dysmorphism [HPO term]
- Glaucoma [HPO term]
- Hypoplastic iris stroma [HPO term]
- Iris hypopigmentation [HPO term]
ORDO concept(s)
- Rieger anomaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Iridogoniodysgenesis, dominant type [MeSH concept]
- iridogoniodysgenesis, dominant type [MeSH Supplementary Concept]

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