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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:proximal symphalangism
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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
 narrow_synonym: SYMPHALANGISM AFFECTING THE PROXIMAL PHALANX OF THE 4TH FINGER
 primary_id: MESH:C536223
 xref: GARD:8182;   OMIM:PS185800;   ORDO:3250

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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 Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar PMID:28492532 NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151 		JBrowse link
G Gng3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chrNW_004955599:505,666...506,887
Ensembl chrNW_004955599:505,666...506,768 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar PMID:11938027 PMID:24033266 PMID:24728327 PMID:25741868 PMID:25887915 More... NCBI chrNW_004955455:10,694,102...10,717,613
Ensembl chrNW_004955455:10,694,102...10,717,613 		JBrowse link
G Nog noggin ISO DNA:missense mutation:cds:c.499C>T(p.R167C)human
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:g.551G>A (p.C184Y),g.386T>A (p.L129X),g.58delC(human)		 RGD
CTD		 PMID:10080184 PMID:11846737 PMID:24326127 RGD:12801455 RGD:12801479 RGD:1600234 NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740 		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: Proximal symphalangism 1A OMIM
ClinVar		 PMID:7557985 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 More... NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740 		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 OMIM
ClinVar		 PMID:12121354 PMID:16014698 PMID:16127465 PMID:16532400 PMID:16892395 More... NCBI chrNW_004955422:25,992,081...25,997,122
Ensembl chrNW_004955422:25,992,081...25,997,122 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      proximal symphalangism 6
        proximal symphalangism 1 1
        proximal symphalangism 2 1
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9439
            autosomal genetic disease 8757
              autosomal dominant disease 5744
                proximal symphalangism 6
                  proximal symphalangism 1 1
                  proximal symphalangism 2 1
paths to the root