Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


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 ClinVar Annotator: match by term: Curry-Hall syndrome
ClinVar Annotator: match by OMIM:193530
OMIM
ClinVar
PMID:7635486 PMID:10700184 PMID:18947413 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 NCBI chr14:78,213,601...78,253,266
Ensembl chr14:78,213,635...78,253,266
JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by synonym: ACRODENTAL DYSOSTOSIS OF WEYERS
ClinVar Annotator: match by OMIM:193530
ClinVar Annotator: match by term: Curry-Hall syndrome
ClinVar
OMIM
PMID:16404586 PMID:17024374 PMID:18182642 PMID:19251731 PMID:19810119 PMID:19876929 PMID:23220543 PMID:25741868 PMID:28492532 NCBI chr14:78,128,620...78,212,394
Ensembl chr14:78,129,749...78,211,931
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Stomatognathic Diseases 992
      Stomatognathic System Abnormalities 379
        Tooth Abnormalities 155
          Weyers acrofacial dysostosis 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      Skin and Connective Tissue Diseases 5808
        connective tissue disease 4419
          bone disease 3102
            bone development disease 1413
              dysostosis 392
                acrofacial dysostosis 4
                  Weyers acrofacial dysostosis 2
paths to the root