Search Ontology:
Human Disease
microphthalmia with limb anomalies
- Term ID
- DOID:0060861
- Synonyms
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- 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
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- ICD10CM:Q87.2
- MIM:206920
- ORDO:1106
- Ontology
- Human Disease ( DOID:0060861 )
- is a type of
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