OBO ID: DOID:0060861
Term Name: microphthalmia with limb anomalies Search Ontology:
Synonyms:
  • anophthalmia-syndactyly syndrome
  • MLA
  • OAS
  • ophthalmoacromelic syndrome
  • Waardenburg anophthalmia syndrome
Definition: A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. (2)
References:
Ontology: Human Disease   (DOID:0060861)
OTHER microphthalmia with limb anomalies PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMOC1 Microphthalmia with limb anomalies 206920
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)