FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term microphthalmia with limb anomalies ID (Ontology) DOID:0060861 (Human Disease)
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.
Also Known As "anophthalmia-syndactyly syndrome" ; "MLA" ; "OAS" (for all, see Synonyms field below)
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 Genes
 microphthalmia with limb anomalies       1
 for disease ribbon | microphthalmia with limb anomalies       1
 model of | microphthalmia with limb anomalies       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 microphthalmia with limb anomalies  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "anophthalmia-syndactyly syndrome" EXACT
    "MLA" EXACT OMO:0003012
    "OAS" EXACT OMO:0003012
    "ophthalmoacromelic syndrome" EXACT
    "Waardenburg anophthalmia syndrome" EXACT
Secondary IDs
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ICD10CM:Q87.2
MIM:206920
ORDO:1106