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Term:postaxial acrofacial dysostosis
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Accession:DOID:0111259 term browser browse the term
Definition:An autosomal recessive disease 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. (DO)
Synonyms:exact_synonym: Genee-Wiedemann acrofacial dysostosis;   Genee-Wiedemann syndrome;   Miller syndrome;   POADS;   POADS syndrome;   Postaxial Acrofacial Dysostosis (POADS);   Postaxial acrodysostosis;   Wildervanck-Smith syndrome;   acrofacial dysostosis, Genee-Wiedmann type;   mandibulfacial dysostosis with postaxial limb anomalies;   postaxial acrofacial dysostosis (POADS) syndrome
 primary_id: MESH:C537680
 alt_id: DOID:9000118;   OMIM:263750;   RDO:0003561
 xref: GARD:8410;   ORDO:246
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postaxial acrofacial dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhodh dihydroorotate dehydrogenase (quinone) JBrowse link 19 42,066,103 42,087,906 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      postaxial acrofacial dysostosis 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Skin and Connective Tissue Diseases 4223
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              dysostosis 303
                synostosis 202
                  craniosynostosis 166
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        postaxial acrofacial dysostosis 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.