OBO ID: DOID:0111259
Term Name: postaxial acrofacial dysostosis Search Ontology:
Synonyms:
  • acrofacial dysostosis, Genee-Wiedmann type
  • mandibulfacial dysostosis with postaxial limb anomalies
  • Miller syndrome
  • POADS
  • Postaxial acrodysostosis
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. (2)
References:
Ontology: Human Disease   (DOID:0111259)
OTHER postaxial acrofacial dysostosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DHODH Miller syndrome 263750
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None