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Disease Ontology Browser
microphthalmia with limb anomalies (DOID:0060861)
Synonyms: anophthalmia-syndactyly syndrome; MLA; OAS; ophthalmoacromelic syndrome; Waardenburg anophthalmia syndrome
Alt IDs: OMIM:206920, ICD10CM:Q87.2, ORDO:1106
Definition: A an autosomal recessive disease 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.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/18/2017
MGI 6.08
The Jackson Laboratory