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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


show annotations for term's descendants           Sort by:
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 HPO ORPHA:157801 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 HPO OMIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO OMIM:112500 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G NOG noggin IAGP HPO OMIM:185800 OMIM:611377 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		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 RAB23 RAB23, member RAS oncogene family IAGP HPO OMIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
Absent middle phalanx of 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO OMIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP HPO OMIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Absent middle phalanx of 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP HPO OMIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Absent middle phalanx of 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO OMIM:124480 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO OMIM:186100 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO OMIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
Absent proximal phalanx of thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:149730 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		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 HPO OMIM:610140 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 HPO OMIM:614976 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 BMP2 bone morphogenetic protein 2 IAGP HPO ORPHA:93396 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO OMIM:607932 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 HPO ORPHA:93384 ORPHA:93388 ORPHA:93396 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO OMIM:613823 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO OMIM:156500 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO OMIM:614219 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:602849 ORPHA:15 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:63442 ORPHA:93384 ORPHA:93388 ORPHA:93396 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 HPO OMIM:616835 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO OMIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT57 intraflagellar transport 57 IAGP HPO OMIM:617927 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 HPO OMIM:607778 ORPHA:93388 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 HPO ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO OMIM:605130 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP HPO OMIM:156200 NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971 		JBrowse link
G MIR17HG miR-17-92a-1 cluster host gene IAGP HPO ORPHA:391646 NCBI chr13:91,347,820...91,354,575
Ensembl chr13:91,347,686...91,397,592 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO OMIM:164280 ORPHA:391641 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP HPO OMIM:618853 NCBI chr 3:113,002,444...113,019,671
Ensembl chr 3:113,002,444...113,019,861 		JBrowse link
G PCNT pericentrin IAGP HPO OMIM:210720 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO ORPHA:439822 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO OMIM:301030 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO OMIM:600002 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO OMIM:113000 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO OMIM:256050 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 HPO OMIM:606835 ORPHA:85169 ORPHA:93314 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 HPO ORPHA:3472 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 HPO OMIM:113100 OMIM:615072 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:93409 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 HPO OMIM:617926 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:391641 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 HPO OMIM:119600 OMIM:156510 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO OMIM:136140 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		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 HPO OMIM:113100 OMIM:615072 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 HPO OMIM:615072 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 HPO OMIM:616738 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G NOG noggin IAGP HPO OMIM:186500 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		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 HPO OMIM:112600 ORPHA:93396 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 HPO OMIM:112600 OMIM:616849 ORPHA:93396 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO OMIM:180700 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:112600 OMIM:113100 OMIM:615072 ORPHA:63442 ORPHA:93396 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 HPO OMIM:164200 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		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 H19-ICR H19/IGF2 imprinting control region IAGP HPO OMIM:180860 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HOXD13 homeobox D13 IAGP HPO OMIM:186000 ORPHA:93409 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 HPO OMIM:180860 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:391641 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G NIN ninein IAGP HPO OMIM:614851 ORPHA:319675 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162 		JBrowse link
G NOG noggin IAGP HPO OMIM:186500 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO OMIM:251255 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO OMIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO OMIM:119600 OMIM:156510 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO OMIM:136140 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP HPO ORPHA:46627 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO OMIM:180700 NCBI chr 3:55,465,715...55,505,263
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 HPO OMIM:616849 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO OMIM:620662 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO OMIM:112500 OMIM:607778 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 HPO OMIM:271700 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 HPO OMIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:101600 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 HPO OMIM:101600 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 HPO OMIM:201250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO OMIM:140000 ORPHA:2438 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 HPO OMIM:301900 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of limbs 2585
        Abnormality of the upper limb 1824
          Abnormality of the hand 1655
            Abnormal finger morphology 1290
              Abnormal finger phalanx morphology 712
                Aplasia/Hypoplasia of the phalanges of the hand 227
                  Aplasia/Hypoplasia of the middle phalanges of the hand 58
                    Aplasia of the middle phalanx of the hand + 8
                    Short middle phalanx of finger + 51
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Abnormal skeletal morphology 3532
            Abnormal appendicular skeleton morphology 1997
              Abnormal limb bone morphology 1866
                Abnormal digit morphology 1635
                  Abnormal finger morphology 1290
                    Abnormal finger phalanx morphology 712
                      Abnormal middle phalanx morphology of the hand 69
                        Aplasia/Hypoplasia of the middle phalanges of the hand 58
                          Aplasia of the middle phalanx of the hand + 8
                          Short middle phalanx of finger + 51
paths to the root