Search Ontology:
Human Disease

syndromic microphthalmia 14

Term ID
DOID:0111802
Synonyms
  • colobomatous microphthalmia-rhizomelic dysplasia syndrome
  • MCOPS14
  • MCSKS
  • microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia
  • microphthalmia/coloboma and skeletal dysplasia syndrome
Definition
A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. https://www.ncbi.nlm.nih.gov/pubmed/24906020
References
Ontology
Human Disease   ( DOID:0111802 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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