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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 distal phalanges of the hand
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Accession:HP:0009835 term browser browse the term
Definition:Absence or underdevelopment of the distal phalanges.
Synonyms:exact_synonym: Absent/hypoplastic distal phalanges;   Absent/small outermost finger bone of the hand;   Absent/underdeveloped outermost finger bone of the hand;   Aplasia/Hypoplasia of the distal phalanges;   Aplastic/hypoplastic distal phalanges;   Hypoplastic to absent terminal phalanges;   Hypoplastic/aplastic distal phalanx
 related_synonym: SMALL OR ABSENT DISTAL PHALANGES
 alt_id: HP:0005635;   HP:0006037;   HP:0006066;   HP:0006235
 xref: UMLS:C1861336


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Aplasia/Hypoplasia of the distal phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin IAGP OMIM:611377 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP DNA:nonsense mutation:cds:c.2278C>T, p.Q760X (human)
OMIM:113000		 HPO
RGD		 PMID:23238279 RGD:11537345 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP OMIM:614609 HPO NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
Absent distal phalanges term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP OMIM:619339 HPO NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP OMIM:618658 HPO NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G LBR lamin B receptor IAGP OMIM:215140 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G NOG noggin IAGP OMIM:186500 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP OMIM:612289 HPO NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP OMIM:610168 HPO NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142 		JBrowse link
Aplasia of the distal phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ORPHA:3472 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		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
Aplasia of the distal phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP OMIM:308050 HPO NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Aplasia of the distal phalanx of the 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 OMIM:308050 HPO NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Short distal phalanx of finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ORPHA:1517 HPO NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP ORPHA:1855 HPO NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ACTL6B actin like 6B IAGP OMIM:618470 HPO NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP ORPHA:974 HPO NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP OMIM:614607 HPO NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARSL arylsulfatase L IAGP OMIM:302950 HPO NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ORPHA:79500 HPO NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP ORPHA:261330 HPO NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP OMIM:300963 HPO NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		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 CHST3 carbohydrate sulfotransferase 3 IAGP OMIM:143095 HPO NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP ORPHA:53 HPO NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP OMIM:618150 HPO NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP OMIM:156500 HPO NCBI chr 6:116,118,909...116,217,129
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 ORPHA:85166 ORPHA:93315 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP OMIM:177170 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain IAGP OMIM:615789 HPO NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,630,176 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP ORPHA:261330 HPO NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747 		JBrowse link
G CWC27 CWC27 spliceosome associated cyclophilin IAGP OMIM:250410 HPO NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP ORPHA:974 HPO NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP ORPHA:974 HPO NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP OMIM:616331 HPO NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ORPHA:289 HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G EDA ectodysplasin A IAGP ORPHA:181 HPO NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP ORPHA:181 HPO NCBI chr  X:66,595,637...66,639,269
Ensembl chr  X:66,595,637...66,639,298 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP ORPHA:974 HPO NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP ORPHA:289 HPO NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ORPHA:289 HPO NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		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:309350 OMIM:311300 ORPHA:2484 ORPHA:90650 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP ORPHA:503 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FN1 fibronectin 1 IAGP ORPHA:93315 HPO NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP OMIM:309549 HPO NCBI chr  X:48,476,021...48,486,364
Ensembl chr  X:48,476,021...48,486,364 		JBrowse link
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 GGCX gamma-glutamyl carboxylase IAGP OMIM:277450 HPO NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP OMIM:612474 HPO NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP OMIM:612474 HPO NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP ORPHA:289 HPO NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GPC3 glypican 3 IAGP OMIM:312870 HPO NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP OMIM:312870 ORPHA:2662 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G HOXA13 homeobox A13 IAGP ORPHA:2438 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186300 ORPHA:93387 ORPHA:93406 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP OMIM:218330 ORPHA:1515 HPO NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP ORPHA:1515 HPO NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP OMIM:617102 ORPHA:1515 HPO NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299 		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 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
G JAG1 jagged canonical Notch ligand 1 IAGP OMIM:118450 HPO NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP OMIM:135500 OMIM:611816 ORPHA:420561 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP ORPHA:1517 HPO NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP OMIM:618658 HPO NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G KDM5C lysine demethylase 5C IAGP OMIM:300534 HPO NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,283...53,225,422 		JBrowse link
G LMNA lamin A/C IAGP ORPHA:90153 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP ORPHA:261330 HPO NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP ORPHA:1596 HPO NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952 		JBrowse link
G MGP matrix Gla protein IAGP OMIM:245150 ORPHA:85202 HPO NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP OMIM:616638 HPO NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MTX2 metaxin 2 IAGP ORPHA:90153 HPO NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025 		JBrowse link
G NFIX nuclear factor I X IAGP OMIM:602535 HPO NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NOG noggin IAGP OMIM:184460 OMIM:611377 ORPHA:140908 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ORPHA:974 HPO NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOTCH2 notch receptor 2 IAGP ORPHA:955 HPO NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NXN nucleoredoxin IAGP ORPHA:1507 HPO NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		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 PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP OMIM:618580 HPO NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648 		JBrowse link
G PIGF phosphatidylinositol glycan anchor biosynthesis class F IAGP OMIM:619356 HPO NCBI chr 2:46,580,937...46,617,041
Ensembl chr 2:46,580,937...46,617,055 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP OMIM:614080 ORPHA:2059 HPO NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP OMIM:618143 HPO NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP OMIM:239300 HPO NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		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 PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP ORPHA:289 HPO NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP ORPHA:289 HPO NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PTHLH parathyroid hormone like hormone IAGP ORPHA:93387 HPO NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP OMIM:614814 ORPHA:974 HPO NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP ORPHA:1507 HPO NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ORPHA:192 HPO NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		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 SLC25A24 solute carrier family 25 member 24 IAGP OMIM:612289 ORPHA:2095 ORPHA:2963 HPO NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP OMIM:619293 HPO NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP OMIM:616938 HPO NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP OMIM:615866 HPO NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385 		JBrowse link
G STAMBP STAM binding protein IAGP OMIM:614261 HPO NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP OMIM:220500 ORPHA:79500 HPO NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP ORPHA:3138 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ORPHA:77258 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:606835 ORPHA:85169 ORPHA:93314 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP OMIM:617746 HPO NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G WDR19 WD repeat domain 19 IAGP OMIM:614378 ORPHA:1515 HPO NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WDR35 WD repeat domain 35 IAGP OMIM:614091 ORPHA:1515 HPO NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP OMIM:259050 HPO NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP ORPHA:90154 HPO NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Short distal phalanx of the 2nd finger 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 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
Short distal phalanx of the 3rd finger 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 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
Short distal phalanx of the 4th finger 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
Short distal phalanx of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B IAGP OMIM:135900 HPO NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		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 H19-ICR H19/IGF2 imprinting control region IAGP OMIM:180860 HPO NCBI chr11:1,998,745...2,003,509 JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R IAGP OMIM:620073 HPO NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336 		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...2,158,391 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP OMIM:614608 HPO NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		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
Shortening of all distal phalanges of the fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP ORPHA:79320 HPO NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553 		JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP OMIM:616202 HPO NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP ORPHA:247262 HPO NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP ORPHA:247262 HPO NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G PHF6 PHD finger protein 6 IAGP OMIM:301900 HPO NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP ORPHA:247262 HPO NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP OMIM:614749 ORPHA:247262 HPO NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP ORPHA:247262 HPO NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP ORPHA:247262 HPO NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP OMIM:616809 ORPHA:247262 HPO NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP ORPHA:95699 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		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
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 15292
    Phenotypic abnormality 15290
      Abnormality of limbs 2447
        Abnormality of the upper limb 1745
          Abnormality of the hand 1588
            Abnormality of finger 1187
              Abnormal finger phalanx morphology 661
                Aplasia/Hypoplasia of the phalanges of the hand 225
                  Aplasia/Hypoplasia of the distal phalanges of the hand 122
                    Absent distal phalanges 6
                    Aplasia of the distal phalanges of the hand + 3
                    Short distal phalanx of finger + 116
Path 2
Term Annotations click to browse term
  Human phenotype 15292
    Phenotypic abnormality 15290
      Abnormality of the musculoskeletal system 4269
        Abnormality of the skeletal system 3435
          Abnormal skeletal morphology 3318
            Abnormal appendicular skeleton morphology 1884
              Abnormality of limb bone morphology 1753
                Abnormal digit morphology 1538
                  Abnormality of finger 1187
                    Abnormal finger phalanx morphology 661
                      Abnormal distal phalanx morphology of finger 165
                        Aplasia/Hypoplasia of the distal phalanges of the hand 122
                          Absent distal phalanges 6
                          Aplasia of the distal phalanges of the hand + 3
                          Short distal phalanx of finger + 116
paths to the root