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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: Curry-Hall syndrome
ClinVar Annotator: match by OMIM:193530
OMIM
ClinVar
PMID:7635486, PMID:10700184, 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:18182642, PMID:19810119, 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 16108
    Stomatognathic Diseases 976
      Stomatognathic System Abnormalities 370
        Tooth Abnormalities 148
          Weyers acrofacial dysostosis 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              dysostosis 342
                acrofacial dysostosis 4
                  Weyers acrofacial dysostosis 2
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.