OBO ID: DOID:0111802
Term Name: syndromic microphthalmia 14 Search Ontology:
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 syndromic microphthalmia 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MAB21L2 Microphthalmia/coloboma and skeletal dysplasia syndrome 615877
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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