Coloboma, ocular, autosomal recessive

Preferred Label : Coloboma, ocular, autosomal recessive;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SAL-like 2 gene (SALL2, 602219.0001);

Prefixed ID : #216820;

Details

Origin ID

216820;

UMLS CUI

C4011974;

Automatic exact mappings (from CISMeF team)
- Coloboma of eyelid (disorder) [SNOMED CT concept]
- Congenital ocular coloboma (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Coloboma [MedDRA Preferred Term]
- Coloboma [PASCAL descriptor]
- Coloboma [HPO term]
- Coloboma of eye (disorder) [Inactive SNOMED CT concept]
- Coloboma of the Eye [NCIt concept]
- Ocular coloboma [ORDO Disease]
- coloboma [Disease (Nov.)]
- coloboma [MeSH concept]
- coloboma [DO Concept]
- coloboma [MeSH Descriptor]
- coloboma of eye, nos [SNOMED Notion]
DO Cross reference
- coloboma [DO Concept]
Genes related to phenotype
- Sal-like 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Esotropia [HPO term]
- Exotropia [HPO term]
- Hypertropia [HPO term]
- Iris coloboma [HPO term]
- Lens subluxation [HPO term]
- Nystagmus [HPO term]
- Optic disc coloboma [HPO term]
- Reduced visual acuity [HPO term]
- Retinal coloboma [HPO term]
ORDO concept(s)
- Developmental defect of the eye [ORDO Disease]
- Ocular coloboma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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