Coloboma of optic nerve

Preferred Label : Coloboma of optic nerve;

Type : Phenotype, molecular basis known;

Included titles and symbols : Optic nerve head pits, bilateral congenital; Morning glory disc anomaly;

Inheritance : Autosomal dominant; ? same as 120200;

Prefixed ID : #120430;

Details

Origin ID

120430;

UMLS CUI

C0155299;

Automatic exact mappings (from CISMeF team)
- Morning glory anomaly [HPO term]
Currated CISMeF NLP mapping
- Coloboma of optic nerve [MeSH concept]
- Coloboma of the optic nerve [HRDO Sign]
- Optic disc coloboma [HPO term]
- coloboma of optic nerve [Disease (Nov.)]
- coloboma of optic nerve [DO Concept]
- coloboma of optic nerve [MeSH Supplementary Concept]
DO Cross reference
- coloboma of optic nerve [DO Concept]
Genes related to phenotype
- Paired box gene 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral coloboma of optic nerve [HPO term]
- Optic disc coloboma [HPO term]
- Retinal detachment [HPO term]
ORDO concept(s)
- Morning glory disc anomaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coloboma of optic disc [ICD-9 code]
- Coloboma of optic disc (disorder) [Inactive SNOMED CT concept]
- Coloboma of optic nerve [MeSH concept]
- Coloboma of the optic nerve [HRDO Sign]
- Congenital coloboma of optic disc (disorder) [SNOMED CT concept]
- Optic disc coloboma [HPO term]
- coloboma of optic disc [SNOMED Notion]
- coloboma of optic nerve [MeSH Supplementary Concept]
- coloboma of optic nerve [DO Concept]
- coloboma of optic nerve [Disease (Nov.)]
- congenital coloboma of optic disc [SNOMED Notion]
Validated automatic mappings to BTNT
- Morning glory disc anomaly [ORDO Disease]

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