WormBase Tree Display for DO_term: DOID:0060861
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| DOID:0060861 | Name | microphthalmia with limb anomalies | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | MLA | |||
| OAS | |||||
| Waardenburg anophthalmia syndrome | |||||
| anophthalmia-syndactyly syndrome | |||||
| ophthalmoacromelic syndrome | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 206920 | |
| Attribute_of | Gene_by_orthology | WBGene00011437 |
