Microphthalmia/coloboma 5

Preferred Label : Microphthalmia/coloboma 5;

Symbol : MCOPCB5;

CISMeF acronym : MCOPCB5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sonic hedgehog gene (SHH, 600725.0016);

Prefixed ID : #611638;

Details

Origin ID

611638;

UMLS CUI

C1968843;

Automatic exact mappings (from CISMeF team)
- SHH wt Allele [NCIt concept]
- sonic hedgehog signaling molecule [ORDO Gene]
- sonic hedgehog signaling molecule [HGNC gene]
Broader ORDO disease(s)
- Colobomatous microphthalmia [ORDO Disease]
Currated CISMeF NLP mapping
- microphthalmia, isolated, with coloboma 5 [MeSH concept]
- microphthalmia, isolated, with coloboma 5 [MeSH Supplementary Concept]
Genes related to phenotype
- Sonic hedgehog signaling molecule [OMIM gene]
HPO term(s)
- Abnormality of vision [HPO term]
- Anophthalmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral microphthalmos [HPO term]
- Chorioretinal coloboma [HPO term]
- Holoprosencephaly [HPO term]
- Incomplete penetrance [HPO term]
- Iris coloboma [HPO term]
- Microphthalmia [HPO term]
- Oral cleft [HPO term]
- Variable expressivity [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 5 [MeSH Supplementary Concept]
- microphthalmia, isolated, with coloboma 5 [MeSH concept]
Validated automatic mappings to NTBT
- Colobomatous microphthalmia [ORDO Disease]

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