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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 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
ClinVar
PMID:7635486 PMID:10700184 PMID:18947413 PMID:19810119 PMID:19876929 More... NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Curry-Hall syndrome OMIM
ClinVar
PMID:16404586 PMID:17024374 PMID:18182642 PMID:19251731 PMID:19810119 More... NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Stomatognathic Diseases 1148
      Stomatognathic System Abnormalities 420
        Tooth Abnormalities 154
          Weyers acrofacial dysostosis 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Skin and Connective Tissue Diseases 6546
        connective tissue disease 4900
          bone disease 3578
            bone development disease 1760
              dysostosis 436
                acrofacial dysostosis 4
                  Weyers acrofacial dysostosis 2
paths to the root