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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:postaxial acrofacial dysostosis
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Accession:DOID:0111259 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Genee-Wiedemann acrofacial dysostosis;   Genee-Wiedemann syndrome;   Miller syndrome;   POADS;   POADS syndrome;   Wildervanck-Smith syndrome;   acrofacial dysostosis, Genee-Wiedmann type;   mandibulfacial dysostosis with postaxial limb anomalies;   postaxial acrodysostosis;   postaxial acrofacial dysostosis (POADS);   postaxial acrofacial dysostosis (POADS) syndrome
 primary_id: MESH:C537680
 alt_id: OMIM:263750
 xref: GARD:8410;   ORDO:246
For additional species annotation, visit the Alliance of Genome Resources.


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postaxial acrofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhodh dihydroorotate dehydrogenase (quinone) ISO ClinVar Annotator: match by OMIM:263750
ClinVar Annotator: match by term: Miller syndrome
OMIM
ClinVar
PMID:19915526, PMID:20220176, PMID:21346561, PMID:22692683, PMID:22967083, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      postaxial acrofacial dysostosis 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        postaxial acrofacial dysostosis 1
paths to the root

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