Microphthalmia/coloboma 12

Preferred Label : Microphthalmia/coloboma 12;

Symbol : MCOPCB12;

CISMeF acronym : COI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : COI; Coloboma, uveoretinal; Coloboma of iris, choroid, and retina; Coloboma, ocular, autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : #120200;

Details

Origin ID

120200;

UMLS CUI

C5886785;

Automatic exact mappings (from CISMeF team)
- COI Regimen [NCIt concept]
- Coloboma of eyelid (disorder) [SNOMED CT concept]
- Coloboma of iris [ICD-11 Subcategory]
- Congenital ocular coloboma (disorder) [SNOMED CT concept]
- MT-CO1 wt Allele [NCIt concept]
- Nadide [NCIt concept]
- mitochondrially encoded cytochrome c oxidase I [ORDO Gene]
- obsolete Irido-fundal coloboma [HPO term]
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
- Paired box gene 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chorioretinal coloboma [HPO term]
- Corneal opacity [HPO term]
- Growth delay [HPO term]
- Microphthalmia [HPO term]
- Morning glory anomaly [HPO term]
- Nystagmus [HPO term]
- Optic disc coloboma [HPO term]
- Optic nerve aplasia [HPO term]
- Peters anomaly [HPO term]
- Reduced visual acuity [HPO term]
- Remnants of the hyaloid vascular system [HPO term]
- Ventriculomegaly [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Coloboma of choroid and retina [ORDO Disease]
- Coloboma of iris [ORDO Disease]
- Developmental defect of the eye [ORDO Disease]
- Ocular coloboma [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coloboma [MedDRA Preferred Term]
- Coloboma [HPO term]
- Coloboma of eye (disorder) [Inactive SNOMED CT concept]
- Coloboma of the Eye [NCIt concept]
- Colobomata [MedDRA LLT]
- Congenital ocular coloboma (disorder) [SNOMED CT concept]
- Ocular coloboma [ORDO Disease]
- coloboma [MeSH Descriptor]
- coloboma [MeSH concept]
- coloboma [DO Concept]
- coloboma of eye, nos [SNOMED Notion]
- congenital ocular coloboma, nos [SNOMED Notion]

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