Search Ontology:
Human Disease

postaxial acrofacial dysostosis

Term ID
DOID:0111259
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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