microphthalmia with limb anomalies

Summary

DOID:0060861 - microphthalmia with limb anomalies

Disease Ontology 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.

Synonyms: MLA, OAS, Waardenburg anophthalmia syndrome, anophthalmia-syndactyly syndrome, ophthalmoacromelic syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: smoc1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008800 - microphthalmia with limb anomalies

MONDO:0008800 - microphthalmia with limb anomalies

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), syndrome (is_a)