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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:Small hand
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Accession:HP:0200055 term browser browse the term
Definition:Disproportionately small hand.
Synonyms:exact_synonym: Disproportionately small hands
 related_synonym: SMALL HANDS
 xref: SNOMEDCT_US:299032009;   UMLS:C0575802


show annotations for term's descendants           Sort by:
 
Small hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox IAGP OMIM:615873 HPO NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G AFF4 AF4/FMR2 family member 4 IAGP ORPHA:444077 HPO NCBI chr 5:132,875,381...132,963,655
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP OMIM:617755 HPO NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
JBrowse link
G BRD4 bromodomain containing 4 IAGP ORPHA:199 HPO NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP ORPHA:1425 HPO NCBI chr17:78,991,716...79,009,793
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP OMIM:235510 HPO NCBI chr18:59,430,939...59,698,181
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G CDK10 cyclin dependent kinase 10 IAGP OMIM:617694 HPO NCBI chr16:89,686,612...89,696,354
Ensembl chr16:89,680,737...89,696,354
JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP OMIM:300672 HPO NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629
JBrowse link
G CENPE centromere protein E IAGP OMIM:616051 HPO NCBI chr 4:103,105,811...103,198,408
Ensembl chr 4:103,105,349...103,198,445
JBrowse link
G CHN1 chimerin 1 IAGP ClinVar Annotator: match by term: Small hands ClinVar PMID:25741868 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP OMIM:619339 HPO NCBI chr10:100,188,300...100,229,610
Ensembl chr10:100,188,300...100,229,596
JBrowse link
G CNOT3 CCR4-NOT transcription complex subunit 3 IAGP OMIM:618672 HPO NCBI chr19:54,137,689...54,155,690
Ensembl chr19:54,137,749...54,155,681
JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP OMIM:611209 HPO NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,192,632...73,208,507
JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP ORPHA:85172 HPO NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:228520 HPO NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ORPHA:2500 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G CTNND2 catenin delta 2 IAGP ORPHA:281 HPO NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
JBrowse link
G CUL4B cullin 4B IAGP OMIM:300354 ORPHA:85293 HPO NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:254525 ORPHA:254531 ORPHA:96184 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP ORPHA:459061 HPO NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898
JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP OMIM:608799 HPO NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
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 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP OMIM:614563 HPO NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP ORPHA:952 HPO NCBI chr 4:5,711,199...5,829,043
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ORPHA:952 HPO NCBI chr 4:5,562,408...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FAM50A family with sequence similarity 50 member A IAGP OMIM:300261 HPO NCBI chr  X:154,444,141...154,450,654
Ensembl chr  X:154,444,141...154,450,654
JBrowse link
G FBN1 fibrillin 1 IAGP ORPHA:969 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FBXO11 F-box protein 11 IAGP OMIM:618089 HPO NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP ORPHA:915 HPO NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ORPHA:93259 ORPHA:93260 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FMR1 FMRP translational regulator 1 IAGP ORPHA:261483 HPO NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125
JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP OMIM:617903 HPO NCBI chr 9:98,288,104...98,708,935
Ensembl chr 9:98,288,109...98,708,935
JBrowse link
G GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 IAGP OMIM:618885 HPO NCBI chr 1:230,057,789...230,282,122
Ensembl chr 1:230,057,990...230,282,122
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP OMIM:257850 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G HDAC4 histone deacetylase 4 IAGP ORPHA:1001 HPO NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HDAC8 histone deacetylase 8 IAGP OMIM:300882 ORPHA:199 ORPHA:3459 HPO NCBI chr  X:72,329,516...72,573,099
Ensembl chr  X:72,329,516...72,573,101
JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP OMIM:176270 HPO NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP ORPHA:2796 HPO NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
JBrowse link
G HTT huntingtin IAGP OMIM:617435 HPO NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP OMIM:309590 HPO NCBI chr  X:53,532,096...53,686,723
Ensembl chr  X:53,532,096...53,686,728
JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP OMIM:270450 HPO NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP OMIM:176270 HPO NCBI chr15:25,116,545...25,122,476 JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP OMIM:170390 HPO NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
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 KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Small hands ClinVar PMID:25741868 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G KIF5C kinesin family member 5C IAGP OMIM:615282 HPO NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759
JBrowse link
G KIFBP kinesin family binding protein IAGP OMIM:609460 HPO NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544
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 LAS1L LAS1 like ribosome biogenesis factor IAGP OMIM:309585 ORPHA:3459 HPO NCBI chr  X:65,512,582...65,534,787
Ensembl chr  X:65,438,549...65,534,810
JBrowse link
G LIG4 DNA ligase 4 IAGP ORPHA:235 HPO NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP ORPHA:969 HPO NCBI chr11:65,538,559...65,558,389
Ensembl chr11:65,538,559...65,558,930
JBrowse link
G MAGEL2 MAGE family member L2 IAGP OMIM:176270 OMIM:615547 ORPHA:177901 ORPHA:177904 ORPHA:177910 ORPHA:398069 ORPHA:98754 HPO NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP OMIM:618443 HPO NCBI chr16:1,706,183...1,770,351
Ensembl chr16:1,706,183...1,770,351
JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP OMIM:156200 HPO NCBI chr 2:148,021,011...148,516,971
Ensembl chr 2:148,021,011...148,516,971
JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP ORPHA:1596 HPO NCBI chr15:94,231,561...94,483,952
Ensembl chr15:94,231,538...94,483,952
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ORPHA:3095 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:254525 ORPHA:254531 ORPHA:96184 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MIR140 microRNA 140 IAGP OMIM:618618 HPO NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180
JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP OMIM:176270 HPO NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075
JBrowse link
G MKRN3-AS1 MKRN3 antisense RNA 1 IAGP OMIM:176270 HPO
G NALCN sodium leak channel, non-selective IAGP ORPHA:371364 HPO NCBI chr13:101,053,774...101,417,206
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NDN necdin, MAGE family member IAGP OMIM:176270 ORPHA:177901 ORPHA:177904 ORPHA:177910 ORPHA:98754 HPO NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
JBrowse link
G NGLY1 N-glycanase 1 IAGP OMIM:615273 HPO NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP ORPHA:199 HPO NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
JBrowse link
G NPAP1 nuclear pore associated protein 1 IAGP OMIM:176270 HPO NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP ORPHA:235 HPO NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G NTNG1 netrin G1 IAGP ORPHA:3095 HPO NCBI chr 1:107,140,017...107,484,923
Ensembl chr 1:107,140,007...107,484,923
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP ORPHA:177901 ORPHA:177904 ORPHA:98754 HPO NCBI chr15:27,719,008...28,099,342
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP OMIM:224690 HPO NCBI chr 1:52,372,829...52,404,446
Ensembl chr 1:52,372,829...52,404,423
JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP OMIM:618371 HPO NCBI chr17:38,733,898...38,749,817
Ensembl chr17:38,733,898...38,749,817
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP ORPHA:280633 HPO NCBI chr18:62,041,164...62,187,118
Ensembl chr18:61,905,255...62,187,118
JBrowse link
G POC1A POC1 centriolar protein A IAGP OMIM:614813 HPO NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690
JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D IAGP OMIM:617450 HPO NCBI chr17:60,600,187...60,666,280
Ensembl chr17:60,600,183...60,666,280
JBrowse link
G PUM1 pumilio RNA binding family member 1 IAGP OMIM:617931 HPO NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991
JBrowse link
G PWAR1 Prader Willi/Angelman region RNA 1 IAGP OMIM:176270 HPO NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055
JBrowse link
G PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP OMIM:176270 HPO NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Small hands ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:49,095,932...49,104,758
Ensembl chr 3:49,095,932...49,105,130
JBrowse link
G RAD21 RAD21 cohesin complex component IAGP ORPHA:199 HPO NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:268400 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ORPHA:175 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
Ensembl chr 9:35,657,754...35,658,017
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 RTL1 retrotransposon Gag like 1 IAGP ORPHA:254525 ORPHA:254531 ORPHA:96184 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SATB1 SATB homeobox 1 IAGP OMIM:619229 HPO NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,588
JBrowse link
G SATB2 SATB homeobox 2 IAGP ORPHA:251028 HPO NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,500...199,471,266
JBrowse link
G SEMA5A semaphorin 5A IAGP ORPHA:281 HPO NCBI chr 5:9,035,030...9,546,121
Ensembl chr 5:9,035,033...9,546,075
JBrowse link
G SHROOM4 shroom family member 4 IAGP OMIM:300434 HPO NCBI chr  X:50,575,534...50,814,194
Ensembl chr  X:50,591,642...50,814,302
JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP ORPHA:398079 HPO NCBI chr 6:100,385,009...100,464,929
Ensembl chr 6:100,385,009...100,464,921
JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP ORPHA:94065 HPO NCBI chr15:75,369,379...75,455,819
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G SLC6A17 solute carrier family 6 member 17 IAGP OMIM:616269 HPO NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202
JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP ORPHA:2796 HPO NCBI chr 3:133,932,701...134,029,955
Ensembl chr 3:133,932,701...134,052,184
JBrowse link
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 IAGP OMIM:618779 HPO NCBI chr12:50,085,236...50,100,707
Ensembl chr12:50,085,200...50,100,707
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP OMIM:300590 OMIM:301044 ORPHA:199 ORPHA:3095 HPO NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP OMIM:610759 ORPHA:199 HPO NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,695...110,606,048
JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP OMIM:176270 HPO NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804
JBrowse link
G SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP OMIM:176270 HPO NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP OMIM:176270 ORPHA:177901 ORPHA:177904 ORPHA:177907 ORPHA:177910 ORPHA:98754 HPO NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
G SON SON DNA and RNA binding protein IAGP OMIM:617140 HPO NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP OMIM:145420 HPO NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ORPHA:3095 HPO NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
JBrowse link
G TBCE tubulin folding cofactor E IAGP OMIM:241410 OMIM:244460 ORPHA:2323 ORPHA:93324 HPO NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
Ensembl chr 1:235,367,360...235,452,443
JBrowse link
G TCF4 transcription factor 4 IAGP ORPHA:2896 HPO NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
JBrowse link
G TELO2 telomere maintenance 2 IAGP ORPHA:488642 HPO NCBI chr16:1,493,345...1,510,459
Ensembl chr16:1,493,344...1,510,457
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:181405 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G TUBB3 tubulin beta 3 class III IAGP ORPHA:300570 HPO NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP ORPHA:371364 HPO NCBI chr 2:209,771,832...209,999,299
Ensembl chr 2:209,771,832...209,999,300
JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP ORPHA:500055 HPO NCBI chr16:8,892,097...8,963,912
Ensembl chr16:8,892,097...8,975,328
JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP OMIM:300968 ORPHA:480880 HPO NCBI chr  X:41,085,420...41,236,579
Ensembl chr  X:41,085,445...41,236,579
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP ClinVar Annotator: match by term: SMALL HANDS ClinVar PMID:15141358 PMID:15154116 PMID:16648375 PMID:17990063 PMID:20461111 More... NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
G WDR81 WD repeat domain 81 IAGP OMIM:610185 HPO NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Small hands ClinVar PMID:25741868 NCBI chr 4:6,260,368...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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
G WRN WRN RecQ like helicase IAGP ORPHA:902 HPO NCBI chr 8:31,033,749...31,176,138
Ensembl chr 8:31,033,788...31,176,138
JBrowse link
G XYLT1 xylosyltransferase 1 IAGP ORPHA:1425 HPO NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link

Term paths to the root
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  Human phenotype 13427
    Phenotypic abnormality 13423
      Abnormality of limbs 2230
        Abnormality of the upper limb 1591
          Abnormality of the hand 1468
            Aplasia/hypoplasia involving bones of the hand 503
              Small hand 113
Path 2
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  Human phenotype 13427
    Phenotypic abnormality 13423
      Abnormality of the musculoskeletal system 3859
        Abnormality of the skeletal system 3168
          Abnormality of skeletal morphology 3049
            Aplasia/hypoplasia involving the skeleton 1130
              Aplasia/hypoplasia of the extremities 703
                Aplasia/hypoplasia involving bones of the extremities 653
                  Aplasia/hypoplasia involving bones of the upper limbs 534
                    Aplasia/hypoplasia involving bones of the hand 503
                      Small hand 113
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