FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term postaxial acrofacial dysostosis ID (Ontology) DOID:0111259 (Human Disease)
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.
Also Known As "acrofacial dysostosis, Genee-Wiedmann type" ; "mandibulfacial dysostosis with postaxial limb anomalies" ; "Miller syndrome" (for all, see Synonyms field below)
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 Genes
 postaxial acrofacial dysostosis       1
 for disease ribbon | postaxial acrofacial dysostosis       1
 model of | postaxial acrofacial dysostosis       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 postaxial acrofacial dysostosis  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "acrofacial dysostosis, Genee-Wiedmann type" EXACT
    "mandibulfacial dysostosis with postaxial limb anomalies" EXACT
    "Miller syndrome" EXACT
    "POADS" EXACT OMO:0003012
    "Postaxial acrodysostosis" EXACT
Secondary IDs
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GARD:8410
MESH:C537680
MIM:263750
ORDO:246
SNOMEDCT_US_2023_03_01:66038001
UMLS_CUI:C0265257