Anterior segment dysgenesis 5

Preferred Label : Anterior segment dysgenesis 5;

Symbol : ASGD5;

CISMeF acronym : ASGD5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the paired box 6 gene (PAX6, 607108.0004);

Prefixed ID : #604229;

Détails

Origin ID

604229;

UMLS CUI

C4310809;

Automatic exact mappings (from CISMeF team)
- Peters anomaly [ICD-11 More detail]
- anterior segment dysgenesis 5 [DO Concept]
Currated CISMeF NLP mapping
- Irido-corneo-trabecular dysgenesis (disorder) [SNOMED CT concept]
- Peters anomaly [DO Concept]
- Peters anomaly [Disease (Nov.)]
- Peters anomaly [HPO term]
- Peters anomaly [MeSH concept]
- Peters anomaly [ORDO Disease]
- Peters anomaly [MedDRA LLT]
- peters anomaly [MeSH Supplementary Concept]
DO Cross reference
- Peters anomaly [DO Concept]
- anterior segment dysgenesis 5 [DO Concept]
Genes related to phenotype
- Paired box gene 6 [OMIM gene]
HPO term(s)
- Anterior synechiae of the anterior chamber [HPO term]
- Autosomal dominant inheritance [HPO term]
- Developmental cataract [HPO term]
- Glaucoma [HPO term]
- Hypoplasia of the fovea [HPO term]
- Hypoplasia of the iris [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Nystagmus [HPO term]
- Peters anomaly [HPO term]
- Posterior embryotoxon [HPO term]
- Reduced visual acuity [HPO term]
- Rieger anomaly [HPO term]
- Sclerocornea [HPO term]
- Strabismus [HPO term]
- White corneal opacification [HPO term]
ORDO concept(s)
- Peters anomaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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