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:proximal symphalangism
go back to main search page
Accession:DOID:0050788 term browser browse the term
Definition:A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. (DO)
Synonyms:exact_synonym: Cushing symphalangism;   Cushing's symphalangism;   Strasburger-Hawkins-Eldridge syndrome;   Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome;   Vessel's syndrome;   hereditary absence of proximal interphalangeal joints;   hereditary absence of the proximal interphalangeal joints
 primary_id: MESH:C536223
 xref: GARD:8182;   OMIM:PS185800;   ORDO:3250
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
proximal symphalangism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:g.551G>A (p.C184Y),g.386T>A (p.L129X),g.58delC(human)
DNA:missense mutation:cds:c.499C>T(p.R167C)human
CTD PMID:10080184 PMID:11846737 PMID:24326127 RGD:1600234, RGD:12801455, RGD:12801479 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
proximal symphalangism 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism, proximal, 1A ClinVar
OMIM
PMID:7557985 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 More... NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
proximal symphalangism 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism, proximal, 1B ClinVar
OMIM
PMID:16127465 PMID:16532400 PMID:16892395 PMID:18283415 NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      proximal symphalangism 2
        proximal symphalangism 1 1
        proximal symphalangism 2 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                proximal symphalangism 2
                  proximal symphalangism 1 1
                  proximal symphalangism 2 1
paths to the root