WormBase Tree Display for DO_term: DOID:0111259
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| DOID:0111259 | Name | postaxial acrofacial dysostosis | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. | ||||
| Synonym | Exact | Miller syndrome | |||
| POADS | |||||
| Postaxial acrodysostosis | |||||
| acrofacial dysostosis, Genee-Wiedmann type | |||||
| mandibulfacial dysostosis with postaxial limb anomalies | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 263750 | |
| Attribute_of | Gene_by_orthology | WBGene00020932 |
