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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:Metacarpal synostosis
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Accession:HP:0009701 term browser browse the term
Definition:Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).
Synonyms:exact_synonym: Fused long bones of hand;   Synostosis involving metacarpal bones;   Synostosis involving the metacarpal bones
 alt_id: HP:0005915;   HP:0006041
 xref: UMLS:C4021398


show annotations for term's descendants           Sort by:
Metacarpal synostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO ORPHA:157801 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G FBLN1 fibulin 1 IAGP HPO MIM:608180 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO MIM:612961 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:35099 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:93406 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO MIM:212780 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G TCF12 transcription factor 12 IAGP HPO ORPHA:35099 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO ORPHA:35099 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G ZIC1 Zic family member 1 IAGP HPO ORPHA:35099 NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293 		JBrowse link
4-5 metacarpal synostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO MIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G FGF16 fibroblast growth factor 16 IAGP HPO MIM:309630 NCBI chr  X:77,447,389...77,457,278
Ensembl chr  X:77,447,389...77,457,278 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO MIM:186300 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO MIM:206920 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
Metacarpophalangeal synostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:3250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G NOG noggin IAGP HPO MIM:185800 ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Synostosis involving the 1st metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NONO non-POU domain containing octamer binding IAGP HPO ORPHA:466791 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NONO non-POU domain containing octamer binding IAGP HPO MIM:300967 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO MIM:309500 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of limbs 3147
        Abnormality of the upper limb 2085
          Abnormal upper limb bone morphology 463
            Abnormal metacarpal morphology 227
              Metacarpal synostosis 17
                Carpometacarpal synostosis + 0
                Metacarpophalangeal synostosis + 4
                Synostosis involving the 1st metacarpal + 2
                Synostosis involving the 2nd metacarpal + 0
                Synostosis involving the 3rd metacarpal + 0
                Synostosis involving the 4th metacarpal + 4
                Synostosis involving the 5th metacarpal + 4
Path 2
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the musculoskeletal system 9725
        Abnormality of the skeletal system 8608
          Abnormal musculoskeletal physiology 1998
            Abnormal joint physiology 1669
              Abnormality of joint mobility 1636
                Synostosis of joints 219
                  Synostosis involving bones of the upper limbs 130
                    Synostosis involving bones of the hand 58
                      Metacarpal synostosis 17
                        Carpometacarpal synostosis + 0
                        Metacarpophalangeal synostosis + 4
                        Synostosis involving the 1st metacarpal + 2
                        Synostosis involving the 2nd metacarpal + 0
                        Synostosis involving the 3rd metacarpal + 0
                        Synostosis involving the 4th metacarpal + 4
                        Synostosis involving the 5th metacarpal + 4
paths to the root