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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
 xref: GARD:8182;   MESH:C536223;   MIM:PS185800;   MONDO:0008511;   ORDO:3250


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 chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		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 chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		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 chr 1:205,731,837...205,733,603
Ensembl chr 1:205,731,837...205,733,603 		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 chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104 		JBrowse link
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
RGD		 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: Proximal symphalangism 1A OMIM
ClinVar		 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 OMIM
ClinVar		 PMID:12121354 PMID:16014698 PMID:16127465 PMID:16532400 PMID:16892395 More... NCBI chr 3:144,454,316...144,458,508
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 19141
    syndrome 11372
      proximal symphalangism 6
        proximal symphalangism 1 1
        proximal symphalangism 2 1
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          monogenic disease 10935
            autosomal genetic disease 10425
              autosomal dominant disease 6779
                proximal symphalangism 6
                  proximal symphalangism 1 1
                  proximal symphalangism 2 1
paths to the root