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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:Weyers acrofacial dysostosis
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Accession:DOID:0111571 term browser browse the term
Definition:An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. (DO)
Synonyms:exact_synonym: Curry Hall syndrome;   WAD;   Weyers acrodental dysostosis;   acrodental dysostosis of Weyers;   acrofacial dysostosis of Weyers;   acrofacial dysostosis, Weyers type
 primary_id: MESH:C536695
 alt_id: OMIM:193530
 xref: GARD:497;   ORDO:952


show annotations for term's descendants           Sort by:
Weyers acrofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Evc EvC ciliary complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS		 OMIM
CTD
ClinVar		 PMID:7635486 PMID:9536098 PMID:10700184 PMID:16199547 PMID:17576681 More... NCBI chr 5:37,446,314...37,495,489
Ensembl chr 5:37,446,442...37,494,238 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:12571802 PMID:16404586 PMID:17024374 PMID:17576681 More... NCBI chr 5:37,495,801...37,582,399
Ensembl chr 5:37,495,843...37,582,399 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Stomatognathic Diseases 1328
      Stomatognathic System Abnormalities 574
        Tooth Abnormalities 281
          Weyers acrofacial dysostosis 2
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      musculoskeletal system disease 7928
        connective tissue disease 5393
          bone disease 3899
            bone development disease 2296
              dysostosis 577
                acrofacial dysostosis 4
                  Weyers acrofacial dysostosis 2
paths to the root