Microphthalmia, syndromic 16

Preferred Label : Microphthalmia, syndromic 16;

Symbol : MCOPS16;

CISMeF acronym : MCOP3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MCOP3; Microphthalmia, isolated 3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the retina and anterior neural fold homeobox gene (RAX, 601881.0001);

Prefixed ID : #611038;

Détails

Origin ID

611038;

UMLS CUI

C5774181;

Automatic exact mappings (from CISMeF team)
- Isolated microphthalmia-anophthalmia-coloboma [ORDO Disease]
Currated CISMeF NLP mapping
- isolated microphthalmia 3 [DO Concept]
- microphthalmia, isolated 3 [MeSH concept]
- microphthalmia, isolated 3 [MeSH Supplementary Concept]
DO Cross reference
- isolated microphthalmia 3 [DO Concept]
Genes related to phenotype
- Retina and anterior neural fold homeobox gene [OMIM gene]
HPO term(s)
- Ankyloblepharon [HPO term]
- Anophthalmia [HPO term]
- Anophthalmia, clinical [HPO term]
- Autosomal recessive inheritance [HPO term]
- Microphthalmia [HPO term]
- Sclerocornea [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 3 [DO Concept]
- microphthalmia, isolated 3 [MeSH Supplementary Concept]
- microphthalmia, isolated 3 [MeSH concept]

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