Microphthalmia/coloboma 3

Preferred Label : Microphthalmia/coloboma 3;

Symbol : MCOPCB3;

CISMeF acronym : MCOPCB3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microphthalmia, colobomatous, 3;

Included titles and symbols : Microphthalmia, cataracts, and iris abnormalities;

Prefixed ID : #610092;

Details

Origin ID

610092;

UMLS CUI

C1864721;

Automatic exact mappings (from CISMeF team)
- microphthalmia, cataracts, and iris abnormalities [MeSH Supplementary Concept]
- microphthalmia, cataracts, and iris abnormalities [MeSH concept]
Broader ORDO disease(s)
- Colobomatous microphthalmia [ORDO Disease]
Currated CISMeF NLP mapping
- microphthalmia, isolated, with coloboma 3 [MeSH concept]
- microphthalmia, isolated, with coloboma 3 [MeSH Supplementary Concept]
Genes related to phenotype
- Visual system homeobox 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Iris coloboma [HPO term]
- Microphthalmia [HPO term]
ORDO concept(s)
- Colobomatous microphthalmia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- microphthalmia, isolated, with coloboma 3 [MeSH Supplementary Concept]
- microphthalmia, isolated, with coloboma 3 [MeSH concept]
Validated automatic mappings to NTBT
- Colobomatous microphthalmia [ORDO Disease]

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