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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormality of hand joint mobility
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Accession:HP:0006256 term browser browse the term
Synonyms:xref: UMLS:C4025076



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Abnormality of hand joint mobility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
JBrowse link
Decreased finger mobility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNC filamin C IAGP HPO ORPHA:63273 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274
JBrowse link
Decreased movement range in interphalangeal joints term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP HPO OMIM:609115 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462
JBrowse link
G KRT1 keratin 1 IAGP HPO ORPHA:530838 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407
JBrowse link
Finger joint hypermobility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBL Cbl proto-oncogene IAGP HPO OMIM:613563 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:166200 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO OMIM:130050 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO OMIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029
JBrowse link
G HYAL1 hyaluronidase 1 IAGP HPO OMIM:601492 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381
JBrowse link
G NLRP1 NLR family pyrin domain containing 1 IAGP HPO OMIM:615225 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424
JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO OMIM:618493 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153
JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO OMIM:244200 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO OMIM:212720 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
JBrowse link
G RNF13 ring finger protein 13 IAGP HPO ORPHA:544503 NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139
JBrowse link
G YY1 YY1 transcription factor IAGP HPO OMIM:617557 ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
JBrowse link
Hyperextensibility of the finger joints term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO OMIM:228000 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO OMIM:115150 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO OMIM:617821 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO OMIM:130000 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: Finger joint hyperextensibility
ClinVar Annotator: match by term: Hyperextensibility of the finger joints
ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:616914 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO OMIM:305400 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO OMIM:231070 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834
JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO OMIM:619797 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO OMIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO OMIM:610967 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO OMIM:135500 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:309520 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G NFASC neurofascin IAGP HPO OMIM:618356 NCBI chr 1:204,828,652...205,022,822
Ensembl chr 1:204,828,651...205,022,822
JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP HPO ORPHA:505237 NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:488635 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP HPO OMIM:618821 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517
JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242
JBrowse link
G PRR12 proline rich 12 IAGP HPO OMIM:619539 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO OMIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO OMIM:303600 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SMS spermine synthase IAGP HPO OMIM:309583 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837
JBrowse link
G SP7 Sp7 transcription factor IAGP HPO OMIM:613849 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO OMIM:213980 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
JBrowse link
Increased laxity of fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO OMIM:254090 ORPHA:75840 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:75840 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:75840 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
Proximal finger joint hyperextensibility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21529
    Phenotypic abnormality 21519
      Abnormality of limbs 2577
        Abnormality of the upper limb 1820
          Abnormality of the hand 1651
            Abnormality of hand joint mobility 47
              Decreased finger mobility + 4
              Finger joint hypermobility + 42
Path 2
Term Annotations click to browse term
  Human phenotype 21529
    Phenotypic abnormality 21519
      Abnormality of the musculoskeletal system 4402
        Abnormality of the skeletal system 3638
          Abnormal musculoskeletal physiology 1756
            Abnormal joint physiology 1427
              Abnormality of joint mobility 1427
                Abnormality of hand joint mobility 47
                  Decreased finger mobility + 4
                  Finger joint hypermobility + 42
paths to the root