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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:Short thumb
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Accession:HP:0009778 term browser browse the term
Definition:Hypoplasia (congenital reduction in size) of the thumb.
Synonyms:exact_synonym: Hypoplastic thumb;   Hypoplastic thumbs;   Hypoplastic/small thumb;   Short thumbs;   Small thumbs;   Thumb brachydactyly;   Thumb hypoplasia
 alt_id: HP:0001183;   HP:0001186;   HP:0001589;   HP:0005699;   HP:0006151;   HP:0009628
 xref: MESH:C536903;   SNOMEDCT_US:253936008;   UMLS:C0431890



show annotations for term's descendants           Sort by:
 
Short thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP OMIM:165800 ORPHA:435804 HPO NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
JBrowse link
G ADA2 adenosine deaminase 2 IAGP ORPHA:124 HPO NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP ORPHA:3449 HPO NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ORPHA:3258 HPO NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ORPHA:79499 HPO NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:2712 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
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 BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP OMIM:619325 HPO NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:93388 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP OMIM:605724 HPO NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP OMIM:609054 HPO NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP OMIM:214800 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CHST11 carbohydrate sulfotransferase 11 IAGP OMIM:618167 HPO NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014
JBrowse link
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 CPLX1 complexin 1 IAGP OMIM:194190 HPO NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CREBBP CREB binding protein IAGP OMIM:180849 HPO NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP OMIM:194190 HPO NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP OMIM:270400 HPO NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP OMIM:263750 HPO NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP OMIM:268305 HPO NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
JBrowse link
G EP300 E1A binding protein p300 IAGP OMIM:180849 HPO NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G FANCA FA complementation group A IAGP OMIM:227650 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCC FA complementation group C IAGP OMIM:227645 HPO NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FANCD2 FA complementation group D2 IAGP OMIM:227646 HPO NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCE FA complementation group E IAGP OMIM:600901 HPO NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
JBrowse link
G FANCF FA complementation group F IAGP OMIM:603467 HPO NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FBN1 fibrillin 1 IAGP ORPHA:3449 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FGF10 fibroblast growth factor 10 IAGP ORPHA:2363 HPO NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ORPHA:2363 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 ORPHA:2363 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP OMIM:194190 HPO NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP OMIM:216340 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G FLNA filamin A IAGP OMIM:304120 ORPHA:90650 ORPHA:90652 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GATA1 GATA binding protein 1 IAGP ORPHA:124 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:201250 ORPHA:93388 ORPHA:968 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:176305 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
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 KDM1A lysine demethylase 1A IAGP ORPHA:477993 HPO NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP OMIM:194190 ORPHA:280 HPO NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G LMNB2 lamin B2 IAGP OMIM:616540 HPO NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP ORPHA:3258 HPO NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ORPHA:3449 HPO NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378
JBrowse link
G MGP matrix Gla protein IAGP OMIM:245150 HPO NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G MIR17HG miR-17-92a-1 cluster host gene IAGP ORPHA:391646 HPO NCBI chr13:91,347,820...91,354,575
Ensembl chr13:91,347,820...91,354,579
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 NELFA negative elongation factor complex member A IAGP ORPHA:280 HPO NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP OMIM:194190 ORPHA:280 HPO NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP OMIM:610832 HPO NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G IAGP ORPHA:280 HPO NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP OMIM:618821 HPO NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517
JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP OMIM:617516 HPO NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
JBrowse link
G RAD51C RAD51 paralog C IAGP OMIM:613390 HPO NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
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 RIPK4 receptor interacting serine/threonine kinase 4 IAGP OMIM:263650 HPO NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
G RPL11 ribosomal protein L11 IAGP ORPHA:124 HPO NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
JBrowse link
G RPL15 ribosomal protein L15 IAGP ORPHA:124 HPO NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374
JBrowse link
G RPL18 ribosomal protein L18 IAGP ORPHA:124 HPO NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184
JBrowse link
G RPL26 ribosomal protein L26 IAGP ORPHA:124 HPO NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
JBrowse link
G RPL27 ribosomal protein L27 IAGP ORPHA:124 HPO NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959
JBrowse link
G RPL31 ribosomal protein L31 IAGP ORPHA:124 HPO NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032
JBrowse link
G RPL35 ribosomal protein L35 IAGP ORPHA:124 HPO NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981
JBrowse link
G RPL35A ribosomal protein L35a IAGP ORPHA:124 HPO NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610
JBrowse link
G RPL5 ribosomal protein L5 IAGP ORPHA:124 HPO NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
JBrowse link
G RPS10 ribosomal protein S10 IAGP ORPHA:124 HPO NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069
JBrowse link
G RPS15A ribosomal protein S15a IAGP ORPHA:124 HPO NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383
JBrowse link
G RPS17 ribosomal protein S17 IAGP ORPHA:124 HPO NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459
JBrowse link
G RPS19 ribosomal protein S19 IAGP ORPHA:124 HPO NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
JBrowse link
G RPS20 ribosomal protein S20 IAGP ORPHA:124 HPO NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
JBrowse link
G RPS24 ribosomal protein S24 IAGP ORPHA:124 HPO NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
JBrowse link
G RPS26 ribosomal protein S26 IAGP ORPHA:124 HPO NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
JBrowse link
G RPS27 ribosomal protein S27 IAGP ORPHA:124 HPO NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155
JBrowse link
G RPS28 ribosomal protein S28 IAGP ORPHA:124 HPO NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
JBrowse link
G RPS29 ribosomal protein S29 IAGP ORPHA:124 HPO NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164
JBrowse link
G RPS7 ribosomal protein S7 IAGP ORPHA:124 HPO NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP OMIM:147750 OMIM:607323 ORPHA:2307 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SEMA3E semaphorin 3E IAGP OMIM:214800 HPO NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP OMIM:613406 HPO NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:93307 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP OMIM:613951 HPO NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP ORPHA:2044 HPO NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
JBrowse link
G SVBP small vasohibin binding protein IAGP OMIM:618569 HPO NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP OMIM:113620 HPO NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP ORPHA:124 HPO NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP OMIM:616435 HPO NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
JBrowse link
G WIPI2 WD repeat domain, phosphoinositide interacting 2 IAGP OMIM:618453 HPO NCBI chr 7:5,190,233...5,233,855
Ensembl chr 7:5,190,196...5,233,840
JBrowse link
G ZMYM2 zinc finger MYM-type containing 2 IAGP OMIM:619522 HPO NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829
JBrowse link
G ZNF699 zinc finger protein 699 IAGP OMIM:619488 HPO NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link
Short 1st metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 IAGP OMIM:135100 HPO NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:609441 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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 OMIM:251450 HPO NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G FANCI FA complementation group I IAGP OMIM:609053 HPO NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FZD2 frizzled class receptor 2 IAGP OMIM:164745 ORPHA:93328 HPO NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 ORPHA:63442 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G HDAC8 histone deacetylase 8 IAGP ORPHA:199 HPO NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101
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 MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
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 NOG noggin IAGP OMIM:186570 OMIM:611377 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G PCNT pericentrin IAGP OMIM:210720 HPO NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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 RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP OMIM:147750 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SETBP1 SET binding protein 1 IAGP OMIM:269150 ORPHA:798 HPO NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ORPHA:199 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 ORPHA:199 HPO NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP OMIM:114290 HPO NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP OMIM:136140 HPO NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP OMIM:619135 HPO NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
JBrowse link
Short distal phalanx of the 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...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G FLNA filamin A IAGP ORPHA:1826 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GNAS GNAS complex locus IAGP ORPHA:79445 HPO NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP ORPHA:221139 HPO NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:1826 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP ORPHA:221139 HPO NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G PTCH1 patched 1 IAGP OMIM:109400 HPO NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP OMIM:109400 HPO NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP ORPHA:959 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP OMIM:109400 HPO NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
Short phalanx of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP ORPHA:420561 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
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...95,158,450
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

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14888
    Phenotypic abnormality 14885
      Abnormality of limbs 2440
        Abnormality of the upper limb 1749
          Aplasia/hypoplasia involving bones of the upper limbs 559
            Aplasia/hypoplasia involving bones of the hand 526
              Aplasia/Hypoplasia of fingers 360
                Aplasia/Hypoplasia of the thumb 139
                  Short thumb 114
                    Short phalanx of the thumb + 33
                    Thumbs hypoplastic with bulbous tips 0
Path 2
Term Annotations click to browse term
  Human phenotype 14888
    Phenotypic abnormality 14885
      Abnormality of the musculoskeletal system 4154
        Abnormality of the skeletal system 3425
          Abnormal skeletal morphology 3307
            Aplasia/hypoplasia involving the skeleton 1212
              Aplasia/hypoplasia of the extremities 755
                Aplasia/hypoplasia involving bones of the extremities 706
                  Aplasia/hypoplasia involving bones of the upper limbs 559
                    Aplasia/hypoplasia involving bones of the hand 526
                      Aplasia/Hypoplasia of fingers 360
                        Aplasia/Hypoplasia of the thumb 139
                          Short thumb 114
                            Short phalanx of the thumb + 33
                            Thumbs hypoplastic with bulbous tips 0
paths to the root