Anterior segment dysgenesis 8

Preferred Label : Anterior segment dysgenesis 8;

Symbol : ASGD8;

CISMeF acronym : ASGD8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the complement component 3- and pregnancy zone protein-like alpha-2-macroglobulin domain-containing protein-8 gene (CPAMD8, 608841.0001);

Prefixed ID : #617319;

Details

Origin ID

617319;

UMLS CUI

C4310622;

Automatic exact mappings (from CISMeF team)
- anterior segment dysgenesis 8 [DO Concept]
Currated CISMeF NLP mapping
- Autosomal recessive dysgenesis of anterior segment of eye (disorder) [SNOMED CT concept]
DO Cross reference
- anterior segment dysgenesis 8 [DO Concept]
Genes related to phenotype
- Complement component 3- and pregnancy zone protein-like alpha-2-macroglobulin domain-containing protein 8 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Ectopia lentis [HPO term]
- Ectopia pupillae [HPO term]
- Hypoplasia of the iris [HPO term]
- Iridodonesis [HPO term]
- Iris transillumination defect [HPO term]
- Microphakia [HPO term]
- Optic nerve dysplasia [HPO term]
- Persistent pupillary membrane [HPO term]
- Uveal ectropion [HPO term]
Not associated HPO term(s)
- Corneal opacity [HPO term]
ORDO concept(s)
- Anterior segment developmental anomaly [ORDO Disease]
- Autosomal recessive anterior segment dysgenesis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive dysgenesis of anterior segment of eye (disorder) [SNOMED CT concept]

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