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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:Aplasia/Hypoplasia of the middle phalanges of the hand
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Accession:HP:0009843 term browser browse the term
Synonyms:exact_synonym: Absent/hypoplastic middle phalanges;   Absent/small middle finger bone of the hand;   Absent/underdeveloped middle finger bone of the hand;   Aplasia/hypoplasia of middle phalanges;   Aplastic/hypoplastic middle phalanges;   Hypoplastic/aplastic middle phalanx;   Short to absent middle phalanges;   Short/absent middle phalanges
 alt_id: HP:0005810;   HP:0006063;   HP:0006148
 xref: UMLS:C1862152


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Aplasia/Hypoplasia of the middle phalanges of the hand 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 ORPHA:157801 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP OMIM:216340 HPO NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP ORPHA:2710 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G NOG noggin IAGP OMIM:185800 OMIM:186500 OMIM:611377 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP OMIM:151050 HPO NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP OMIM:201000 HPO NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
Absent middle phalanx of 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 IAGP OMIM:186100 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
Absent proximal phalanx of thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF10 fibroblast growth factor 10 IAGP OMIM:149730 HPO NCBI chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:149730 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:149730 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
Aplasia of the middle phalanx of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP OMIM:610140 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP OMIM:614976 HPO NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
JBrowse link
Short middle phalanx of finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 IAGP OMIM:607932 HPO NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:93384 ORPHA:93388 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP OMIM:156500 HPO NCBI chr 6:116,118,909...116,219,937
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:15 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ORPHA:3472 HPO NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 ORPHA:93384 ORPHA:93388 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GMNN geminin DNA replication inhibitor IAGP OMIM:616835 HPO NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
JBrowse link
G IFT57 intraflagellar transport 57 IAGP OMIM:617927 HPO NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP ORPHA:93388 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G KDM6A lysine demethylase 6A IAGP ORPHA:2322 HPO NCBI chr  X:44,873,182...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2A lysine methyltransferase 2A IAGP OMIM:605130 HPO NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,490...118,526,832
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ORPHA:2322 HPO NCBI chr12:49,018,975...49,060,884
Ensembl chr12:49,018,978...49,060,794
JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP OMIM:618853 HPO NCBI chr 3:113,002,444...113,019,721
Ensembl chr 3:113,002,444...113,019,861
JBrowse link
G PCNT pericentrin IAGP OMIM:210720 HPO NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
JBrowse link
G PDE4D phosphodiesterase 4D IAGP ORPHA:439822 HPO NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP OMIM:113000 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP OMIM:256050 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:606835 ORPHA:85169 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP ORPHA:3472 HPO NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
JBrowse link
Short middle phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:615072 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:93409 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G INTU inturned planar cell polarity protein IAGP OMIM:617926 HPO NCBI chr 4:127,623,271...127,726,737
Ensembl chr 4:127,623,271...127,726,737
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ORPHA:391641 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP OMIM:119600 OMIM:156510 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
Short middle phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:615072 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Short middle phalanx of the 4th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:615072 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP OMIM:616738 HPO NCBI chr 3:169,083,506...169,663,781
Ensembl chr 3:169,083,499...169,663,775
JBrowse link
Short middle phalanx of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP2 bone morphogenetic protein 2 IAGP OMIM:112600 ORPHA:93396 HPO NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:112600 OMIM:616849 ORPHA:93396 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP OMIM:180700 HPO NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G GATA1 GATA binding protein 1 IAGP OMIM:190685 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...48,794,311
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:112600 OMIM:615072 ORPHA:63442 ORPHA:93396 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP OMIM:164200 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP OMIM:180860 HPO NCBI chr11:1,998,745...2,003,509 JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186000 ORPHA:93409 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IGF2 insulin like growth factor 2 IAGP OMIM:180860 HPO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ORPHA:391641 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G NIN ninein IAGP ORPHA:319675 HPO NCBI chr14:50,719,763...50,831,162
Ensembl chr14:50,719,763...50,831,162
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ORPHA:508488 HPO NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,829,352
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP OMIM:251255 HPO NCBI chr18:22,914,121...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP OMIM:268310 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP OMIM:119600 OMIM:156510 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP ORPHA:46627 HPO NCBI chr 6:50,817,692...50,847,619
Ensembl chr 6:50,818,723...50,847,619
JBrowse link
G WNT5A Wnt family member 5A IAGP OMIM:180700 HPO NCBI chr 3:55,465,715...55,505,261
Ensembl chr 3:55,465,715...55,490,539
JBrowse link
Short proximal phalanx of thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:616849 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:112500 OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
Shortening of all middle phalanges of the fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP OMIM:101600 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101600 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:201250 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G HOXA13 homeobox A13 IAGP OMIM:140000 ORPHA:2438 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G PHF6 PHD finger protein 6 IAGP OMIM:301900 HPO NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,312...134,428,791
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13360
    Phenotypic abnormality 13357
      Abnormality of limbs 2164
        Abnormality of the upper limb 1530
          Abnormality of the hand 1410
            Abnormality of finger 1052
              Abnormal finger phalanx morphology 642
                Aplasia/Hypoplasia of the phalanges of the hand 230
                  Aplasia/Hypoplasia of the middle phalanges of the hand 48
                    Aplasia of the middle phalanx of the hand + 6
                    Short middle phalanx of finger + 41
Path 2
Term Annotations click to browse term
  Human phenotype 13360
    Phenotypic abnormality 13357
      Abnormality of the musculoskeletal system 3798
        Abnormality of the skeletal system 3111
          Abnormality of skeletal morphology 2994
            Abnormal appendicular skeleton morphology 1679
              Abnormality of limb bone morphology 1566
                Abnormal digit morphology 1370
                  Abnormality of finger 1052
                    Abnormal finger phalanx morphology 642
                      Abnormal middle phalanx morphology of the hand 55
                        Aplasia/Hypoplasia of the middle phalanges of the hand 48
                          Aplasia of the middle phalanx of the hand + 6
                          Short middle phalanx of finger + 41
paths to the root