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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: anophthalmia-syndactyly syndrome, MLA, OAS, ophthalmoacromelic syndrome, Waardenburg anophthalmia syndrome
Xenbase Genes
:
smoc1
| MONDO:0008800 - microphthalmia with limb anomalies |
| MIM:206920 - MICROPHTHALMIA WITH LIMB ANOMALIES; MLA |
Other Model Organisms: Alliance, 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)