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
Accession: DOID:0050788
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
G
Abca1
ATP-binding cassette, sub-family A member 1
ISO
ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger
ClinVar
PMID:28492532
NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
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 chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047
G
Gng3
guanine nucleotide binding protein (G protein), gamma 3
ISO
ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger
ClinVar
NCBI chr19:8,814,293...8,816,610
Ensembl chr19:8,814,297...8,816,558
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 PMID:28492532 PMID:29334895 More...
NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153
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 chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158
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Nog
noggin
ISO
ClinVar Annotator: match by term: Proximal symphalangism 1A
OMIM ClinVar
PMID:7557985 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11846737 PMID:11857750 PMID:17245852 PMID:17668388 PMID:18440889 PMID:25741868 PMID:28492532 More...
NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158
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 PMID:18283415 PMID:21976273 PMID:25741868 PMID:28492532 More...
NCBI chr 2:155,782,943...155,787,204
Ensembl chr 2:155,782,943...155,787,287
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all