Microphthalmia, isolated 2

Preferred Label : Microphthalmia, isolated 2;

Symbol : MCOP2;

CISMeF acronym : MCOP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Anophthalmia, clinical, isolated;

Prefixed ID : #610093;

Details

Origin ID

610093;

UMLS CUI

C1864720;

Automatic exact mappings (from CISMeF team)
- Isolated microphthalmia-anophthalmia-coloboma [ORDO Disease]
Currated CISMeF NLP mapping
- isolated microphthalmia 2 [DO Concept]
- microphthalmia, isolated 2 [MeSH concept]
- microphthalmia, isolated 2 [MeSH Supplementary Concept]
DO Cross reference
- isolated microphthalmia 2 [DO Concept]
Genes related to phenotype
- Visual system homeobox 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Opacification of the corneal stroma [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Isolated microphthalmia-anophthalmia-coloboma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- isolated microphthalmia 2 [DO Concept]
- microphthalmia, isolated 2 [MeSH Supplementary Concept]
- microphthalmia, isolated 2 [MeSH concept]

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