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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:Abnormality of limb bone morphology
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Accession:HP:0002813 term browser browse the term
Definition:Any abnormality of bones of the arms or legs.
Synonyms:exact_synonym: Abnormal shape of limb bone;   Arm and/or leg bone differences;   Limb abnormality
 xref: UMLS:C4082761


show annotations for term's descendants           Sort by:
 
Abnormality of limb bone morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH3 cadherin 3 IAGP ORPHA:1573 HPO NCBI chr16:68,644,914...68,727,573
Ensembl chr16:68,636,189...68,727,468
JBrowse link
G GDF6 growth differentiation factor 6 IAGP OMIM:118100 HPO NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP DNA:missense mutation:cds:p.P59H RGD PMID:16219735 RGD:1578474 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
1-2 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMC1A structural maintenance of chromosomes 1A IAGP OMIM:301044 HPO NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
1-3 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP OMIM:175700 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
1-5 finger complete cutaneous syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP OMIM:186200 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
1-5 finger syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP OMIM:186200 ORPHA:93405 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:93405 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
1-5 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP OMIM:174700 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
2-3 finger syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin IAGP ORPHA:158687 HPO NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
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
G GPC3 glypican 3 IAGP OMIM:312870 HPO NCBI chr  X:133,535,745...133,985,616
Ensembl chr  X:133,535,745...133,985,594
JBrowse link
G GPC4 glypican 4 IAGP OMIM:312870 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G JUP junction plakoglobin IAGP ORPHA:158687 HPO NCBI chr17:41,754,608...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP ORPHA:3152 HPO NCBI chr11:46,854,715...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G PITX1 paired like homeodomain 1 IAGP OMIM:186550 HPO NCBI chr 5:135,027,734...135,034,228
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G SOST sclerostin IAGP OMIM:269500 ORPHA:3152 HPO NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791
JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP OMIM:217085 ORPHA:1338 HPO NCBI chr 2:63,119,559...63,588,733
Ensembl chr 2:63,119,559...63,827,843
JBrowse link
2-3 toe cutaneous syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP OMIM:300166 HPO NCBI chr  X:40,051,246...40,177,390
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP ClinVar Annotator: match by term: Cutaneous syndactyly of second and third toes ClinVar PMID:9634533 PMID:9653161 PMID:10677299 PMID:10995508 PMID:11078571 PMID:11175299 PMID:15521979 PMID:15670717 PMID:15805162 PMID:16497572 PMID:17965227 PMID:19390132 PMID:20301322 PMID:20556518 PMID:23293579 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33223529 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Cutaneous syndactyly of second and third toes ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Cutaneous syndactyly of second and third toes ClinVar PMID:25741868 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
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 OMIM:300260 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G NECTIN4 nectin cell adhesion molecule 4 IAGP OMIM:613573 HPO NCBI chr 1:161,070,998...161,089,566
Ensembl chr 1:161,070,998...161,089,558
JBrowse link
2-3 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL4 acyl-CoA synthetase long chain family member 4 IAGP ORPHA:777 HPO NCBI chr  X:109,641,335...109,733,325
Ensembl chr  X:109,624,244...109,733,403
JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP ORPHA:404448 HPO NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G AGTR2 angiotensin II receptor type 2 IAGP ORPHA:777 HPO NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP ORPHA:777 HPO NCBI chr  X:111,680,741...111,764,164
Ensembl chr  X:111,665,811...111,760,649
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP ORPHA:821 HPO NCBI chr19:1,446,268...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G ARCN1 archain 1 IAGP OMIM:617164 HPO NCBI chr11:118,572,396...118,603,033
Ensembl chr11:118,572,390...118,603,033
JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 IAGP ORPHA:777 HPO NCBI chr  X:136,665,547...136,780,945
Ensembl chr  X:136,665,547...136,780,932
JBrowse link
G ARX aristaless related homeobox IAGP ORPHA:777 HPO NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420
JBrowse link
G BCOR BCL6 corepressor IAGP OMIM:300166 ORPHA:2712 HPO NCBI chr  X:40,051,246...40,177,390
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 BMP2 bone morphogenetic protein 2 IAGP OMIM:112600 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 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G CDC45 cell division cycle 45 IAGP OMIM:617063 HPO NCBI chr22:19,479,294...19,520,612
Ensembl chr22:19,479,457...19,520,612
JBrowse link
G CEP55 centrosomal protein 55 IAGP OMIM:236500 HPO NCBI chr10:93,496,612...93,529,094
Ensembl chr10:93,496,612...93,529,092
JBrowse link
G CERT1 ceramide transporter 1 IAGP OMIM:616351 HPO NCBI chr 5:75,368,486...75,511,981
Ensembl chr 5:75,356,345...75,512,138
JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP OMIM:610313 HPO NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177
JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP ORPHA:777 HPO NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660
JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP ORPHA:777 HPO NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695
JBrowse link
G CNOT2 CCR4-NOT transcription complex subunit 2 IAGP OMIM:618608 HPO NCBI chr12:70,242,993...70,354,993
Ensembl chr12:70,243,002...70,354,993
JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP OMIM:618870 HPO NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029
JBrowse link
G CTCF CCCTC-binding factor IAGP ORPHA:363611 HPO NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
JBrowse link
G DDX11 DEAD/H-box helicase 11 IAGP OMIM:613398 HPO NCBI chr12:31,073,860...31,104,799
Ensembl chr12:31,073,860...31,104,799
JBrowse link
G DDX6 DEAD-box helicase 6 IAGP OMIM:618653 HPO NCBI chr11:118,747,763...118,791,696
Ensembl chr11:118,747,763...118,791,164
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP OMIM:270400 ORPHA:818
ClinVar Annotator: match by term: Webbed 2nd and 3rd toes
ClinVar Annotator: match by term: 2-3 toe syndactyly
HPO
ClinVar
PMID:9634533 PMID:9653161 PMID:10677299 PMID:10995508 PMID:11078571 PMID:11175299 PMID:15521979 PMID:15670717 PMID:15805162 PMID:16497572 PMID:17965227 PMID:19390132 PMID:20301322 PMID:20556518 PMID:23293579 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33223529 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DLG3 discs large MAGUK scaffold protein 3 IAGP ORPHA:777 HPO NCBI chr  X:70,444,835...70,505,490
Ensembl chr  X:70,444,835...70,505,490
JBrowse link
G DMD dystrophin IAGP ORPHA:777 HPO NCBI chr  X:31,119,219...33,339,460
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Webbed 2nd and 3rd toes ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP OMIM:300960 ORPHA:401973 HPO NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP OMIM:618914 HPO NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP OMIM:618156 HPO NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,304
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP OMIM:123150 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:123150 ORPHA:1540 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FRMPD4 FERM and PDZ domain containing 4 IAGP ORPHA:777 HPO NCBI chr  X:11,822,439...12,724,523
Ensembl chr  X:11,822,423...12,724,523
JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP ORPHA:777 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:112600 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GDI1 GDP dissociation inhibitor 1 IAGP ORPHA:777 HPO NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP OMIM:269921 ORPHA:3166 HPO NCBI chr 9:36,214,441...36,277,056
Ensembl chr 9:36,214,441...36,277,042
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Webbed 2nd and 3rd toes ClinVar PMID:25741868 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
JBrowse link
G HCFC1 host cell factor C1 IAGP ORPHA:777 HPO NCBI chr  X:153,947,556...153,972,360
Ensembl chr  X:153,947,557...153,971,818
JBrowse link
G HEPHL1 hephaestin like 1 IAGP OMIM:261990 HPO NCBI chr11:94,021,354...94,114,208
Ensembl chr11:94,021,354...94,114,208
JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:93406 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP OMIM:614188 HPO NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,650,702...34,661,902
JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 IAGP ORPHA:777 HPO NCBI chr  X:28,587,446...29,956,718
Ensembl chr  X:28,587,446...29,956,718
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP ORPHA:777 HPO NCBI chr  X:53,225,784...53,321,356
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP OMIM:181270 HPO NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:186200 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP ORPHA:397941 HPO NCBI chr 9:137,086,941...137,109,183
Ensembl chr 9:137,086,857...137,109,189
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ORPHA:777 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MED12 mediator complex subunit 12 IAGP ORPHA:777 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,556...71,142,454
JBrowse link
G MED25 mediator complex subunit 25 IAGP ORPHA:464738 HPO NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
JBrowse link
G MEIS2 Meis homeobox 2 IAGP OMIM:600987 HPO NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299
JBrowse link
G MID2 midline 2 IAGP ORPHA:777 HPO NCBI chr  X:107,825,735...107,931,637
Ensembl chr  X:107,825,755...107,931,637
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP OMIM:164280 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP OMIM:617201 HPO NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP OMIM:122470 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:186500 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ORPHA:821 HPO NCBI chr 5:177,131,835...177,300,213
Ensembl chr 5:177,133,025...177,300,213
JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 IAGP ORPHA:777 HPO NCBI chr  X:110,944,324...111,227,361
Ensembl chr  X:110,944,285...111,227,361
JBrowse link
G PDE6D phosphodiesterase 6D IAGP OMIM:615665 HPO NCBI chr 2:231,732,428...231,781,282
Ensembl chr 2:231,732,433...231,786,272
JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP OMIM:616809 HPO NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ORPHA:3455 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,969,251...78,029,515
JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP OMIM:617516 HPO NCBI chr17:67,337,916...67,366,598
Ensembl chr17:67,337,916...67,366,605
JBrowse link
G PTCHD1 patched domain containing 1 IAGP ORPHA:777 HPO NCBI chr  X:23,334,369...23,404,374
Ensembl chr  X:23,334,849...23,404,374
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ORPHA:508498 HPO NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,829,352
JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP ORPHA:777 HPO NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491
JBrowse link
G RAI1 retinoic acid induced 1 IAGP ORPHA:477817 HPO NCBI chr17:17,681,376...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP OMIM:614814 HPO NCBI chr 4:26,163,458...26,435,131
Ensembl chr 4:26,163,455...26,435,131
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ORPHA:777 HPO NCBI chr  X:20,149,911...20,267,514
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 HPO NCBI chr16:51,135,982...51,151,270
Ensembl chr16:51,135,975...51,151,367
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ORPHA:821 HPO NCBI chr 3:47,016,431...47,164,113
Ensembl chr 3:47,016,429...47,164,113
JBrowse link
G SETD5 SET domain containing 5 IAGP ORPHA:404440 HPO NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP OMIM:606232 HPO NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,415...50,733,298
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 IAGP OMIM:619121 HPO NCBI chr12:57,229,685...57,234,935
Ensembl chr12:57,229,573...57,234,935
JBrowse link
G SIK3 SIK family kinase 3 IAGP OMIM:618162 HPO NCBI chr11:116,843,402...117,098,453
Ensembl chr11:116,843,402...117,098,437
JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP OMIM:619080 HPO NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP OMIM:218000 HPO NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
JBrowse link
G SLC9A7 solute carrier family 9 member A7 IAGP ORPHA:777 HPO NCBI chr  X:46,599,251...46,759,163
Ensembl chr  X:46,599,251...46,759,118
JBrowse link
G SMAD4 SMAD family member 4 IAGP OMIM:139210 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP ORPHA:313892 HPO NCBI chr12:23,529,499...24,562,701
Ensembl chr12:23,529,504...24,562,544
JBrowse link
G STAG1 stromal antigen 1 IAGP ORPHA:502434 HPO NCBI chr 3:136,336,235...136,752,412
Ensembl chr 3:136,336,236...136,752,403
JBrowse link
G STEEP1 STING1 ER exit protein 1 IAGP ORPHA:777 HPO NCBI chr  X:119,538,149...119,565,409
Ensembl chr  X:119,538,149...119,565,409
JBrowse link
G SYP synaptophysin IAGP ORPHA:777 HPO NCBI chr  X:49,187,815...49,200,193
Ensembl chr  X:49,187,815...49,200,199
JBrowse link
G SYT1 synaptotagmin 1 IAGP ORPHA:522077 HPO NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008
JBrowse link
G TBCK TBC1 domain containing kinase IAGP ORPHA:488632 HPO NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
JBrowse link
G TBX15 T-box transcription factor 15 IAGP OMIM:260660 HPO NCBI chr 1:118,883,046...118,989,510
Ensembl chr 1:118,883,046...118,989,556
JBrowse link
G TP63 tumor protein p63 IAGP OMIM:106260 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP OMIM:617061 ORPHA:476126 HPO NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
JBrowse link
G TSPAN7 tetraspanin 7 IAGP ORPHA:777 HPO NCBI chr  X:38,561,542...38,688,918
Ensembl chr  X:38,561,542...38,688,920
JBrowse link
G TTI2 TELO2 interacting protein 2 IAGP ORPHA:391307 HPO NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185
JBrowse link
G TXNL4A thioredoxin like 4A IAGP OMIM:608572 HPO NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP ORPHA:777 HPO NCBI chr  X:119,805,311...119,853,028
Ensembl chr  X:119,805,311...119,852,998
JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked IAGP ORPHA:777 HPO NCBI chr  X:49,879,484...49,882,558
Ensembl chr  X:49,879,484...49,882,558
JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP ORPHA:777 HPO NCBI chr  X:41,085,420...41,236,579
Ensembl chr  X:41,085,445...41,236,579
JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 IAGP OMIM:618659 HPO NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519
JBrowse link
G ZNF41 zinc finger protein 41 IAGP ORPHA:777 HPO NCBI chr  X:47,444,691...47,485,934
Ensembl chr  X:47,445,178...47,483,222
JBrowse link
G ZNF711 zinc finger protein 711 IAGP ORPHA:777 HPO NCBI chr  X:85,243,820...85,273,362
Ensembl chr  X:85,243,991...85,273,362
JBrowse link
G ZNF81 zinc finger protein 81 IAGP ORPHA:777 HPO NCBI chr  X:47,836,902...47,925,627
Ensembl chr  X:47,836,902...48,002,561
JBrowse link
2-4 finger syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 HPO NCBI chr16:51,135,982...51,151,270
Ensembl chr16:51,135,975...51,151,367
JBrowse link
2-4 toe cutaneous syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP ORPHA:268261 HPO NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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 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
2-4 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CKAP2L cytoskeleton associated protein 2 like IAGP OMIM:272440 HPO NCBI chr 2:112,736,349...112,764,617
Ensembl chr 2:112,736,349...112,764,664
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ORPHA:276280 HPO NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
2-5 finger syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RTTN rotatin IAGP ORPHA:468631 HPO NCBI chr18:70,003,031...70,205,726
Ensembl chr18:70,003,031...70,205,726
JBrowse link
2nd-5th toe middle phalangeal hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP OMIM:186000 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
3-4 finger cutaneous syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP ORPHA:672 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP OMIM:616268 HPO NCBI chr 8:41,929,479...42,051,988
Ensembl chr 8:41,929,479...42,051,994
JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP OMIM:181270 HPO NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
JBrowse link
G TP63 tumor protein p63 IAGP ORPHA:69085 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
3-4 finger syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP OMIM:609432 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
G DSP desmoplakin IAGP ORPHA:158687 HPO NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP OMIM:174700 OMIM:175700 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186000 ORPHA:93406 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G JUP junction plakoglobin IAGP ORPHA:158687 HPO NCBI chr17:41,754,608...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 HPO NCBI chr16:51,135,982...51,151,270
Ensembl chr16:51,135,975...51,151,367
JBrowse link
3-4 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 HOXD13 homeobox D13 IAGP OMIM:186300 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G RHOA ras homolog family member A IAGP OMIM:618727 HPO NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 HPO NCBI chr16:51,135,982...51,151,270
Ensembl chr16:51,135,975...51,151,367
JBrowse link
4-5 finger syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin IAGP ORPHA:158687 HPO NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP OMIM:164200 OMIM:186100 OMIM:257850
ClinVar Annotator: match by term: Webbed 4th-5th finger
HPO
ClinVar
PMID:25741868 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G JUP junction plakoglobin IAGP ORPHA:158687 HPO NCBI chr17:41,754,608...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G RTTN rotatin IAGP ORPHA:468631 HPO NCBI chr18:70,003,031...70,205,726
Ensembl chr18:70,003,031...70,205,726
JBrowse link
4-5 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP OMIM:186000 OMIM:186300 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP OMIM:164280 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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 TBX15 T-box transcription factor 15 IAGP OMIM:260660 HPO NCBI chr 1:118,883,046...118,989,510
Ensembl chr 1:118,883,046...118,989,556
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
6 metacarpals term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP OMIM:186000 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:186200 ORPHA:93405 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:93405 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
Abnormal diaphysis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP ORPHA:2028 HPO NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ORPHA:2021 HPO NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ORPHA:2021 HPO NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
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 IDUA alpha-L-iduronidase IAGP ORPHA:93473 HPO NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,004,564
JBrowse link
G IFT122 intraflagellar transport 122 IAGP ORPHA:1515 HPO NCBI chr 3:129,440,075...129,520,507
Ensembl chr 3:129,440,036...129,520,507
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 ORPHA:1515 HPO NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ORPHA:192 HPO NCBI chr  X:20,149,911...20,267,514
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G WDR19 WD repeat domain 19 IAGP ORPHA:1515 HPO NCBI chr 4:39,182,473...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR35 WD repeat domain 35 IAGP ORPHA:1515 HPO NCBI chr 2:19,910,260...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
Abnormal digit morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELN elastin IAGP ClinVar Annotator: match by term: Abnormality of fingers or toes ClinVar PMID:9215670 PMID:11175284 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ORPHA:208441 HPO NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G GLMN glomulin, FKBP associated protein IAGP ORPHA:83454 HPO NCBI chr 1:92,245,786...92,441,936
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP OMIM:300831 HPO NCBI chr  X:152,831,001...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP DNA:deletion mutation:exon:c.2243delC,p.W749fsX24(human) RGD PMID:19461659 RGD:11535951 NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
Abnormal distal phalanx morphology of finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 MACROH2A1 macroH2A.1 histone IAGP ORPHA:1275 HPO NCBI chr 5:135,334,381...135,401,998
Ensembl chr 5:135,333,900...135,399,914
JBrowse link
G PITX1 paired like homeodomain 1 IAGP ORPHA:1275 HPO NCBI chr 5:135,027,734...135,034,228
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP ORPHA:1387 HPO NCBI chr 2:135,052,281...135,176,667
Ensembl chr 2:135,052,292...135,176,394
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP ORPHA:1387 HPO NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,453
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
Abnormal epiphysis morphology of the phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:619248 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Abnormal femoral neck/head morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP5 LDL receptor related protein 5 IAGP ORPHA:2788 HPO NCBI chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
Abnormal femoral torsion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIBP FGF1 intracellular binding protein IAGP ORPHA:500095 HPO NCBI chr11:65,883,740...65,888,510
Ensembl chr11:65,883,740...65,888,531
JBrowse link
Abnormal finger flexion creases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase IAGP OMIM:210600 HPO NCBI chr 3:142,449,235...142,578,793
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:615298 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G WNT7A Wnt family member 7A IAGP OMIM:228930 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Abnormal finger phalanx morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP DNA:missense mutation:cds:c.1195C>T(human)
DNA:missense mutation:cds:c.527T>C(p.L176P)(human)
RGD PMID:20683927, PMID:23812741 RGD:12437076, RGD:12437083 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Abnormal fingertip morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD1 chromodomain helicase DNA binding protein 1 IAGP ORPHA:529965 HPO NCBI chr 5:98,853,985...98,929,772
Ensembl chr 5:98,853,985...98,929,007
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:missense mutation:cds:p.K173N RGD PMID:15135176 RGD:12798510 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP ORPHA:79404 HPO NCBI chr18:23,689,443...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP ORPHA:79404 HPO NCBI chr 1:209,614,870...209,652,467
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP ORPHA:79404 HPO NCBI chr 1:183,186,264...183,245,127
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP ORPHA:79106 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP ORPHA:90154 HPO NCBI chr 1:40,258,078...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Abnormal metacarpal morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain IAGP ORPHA:166100 HPO NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:166100 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Abnormal metaphyseal trabeculation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIFR LIF receptor subunit alpha IAGP OMIM:601559 HPO NCBI chr 5:38,474,668...38,606,290
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
Abnormal metaphyseal vascular invasion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:156530 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Abnormal metatarsal morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD55 ankyrin repeat domain 55 IAGP ORPHA:85408 HPO NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330
JBrowse link
G CD247 CD247 molecule IAGP ORPHA:85408 HPO NCBI chr 1:167,430,640...167,518,542
Ensembl chr 1:167,430,640...167,518,610
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP ORPHA:85408 HPO NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP ORPHA:85408 HPO NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,125,843...37,175,054
JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP ORPHA:85408 HPO NCBI chr18:12,785,478...12,884,351
Ensembl chr18:12,785,478...12,929,643
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:85408 HPO NCBI chr 1:113,813,811...113,871,761
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G SHOX short stature homeobox IAGP OMIM:127300 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:85408 HPO NCBI chr 2:191,029,576...191,172,684
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
Abnormal ossification involving the femoral head and neck term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSL arylsulfatase L IAGP ORPHA:79345 HPO NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP ORPHA:750 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G FLNB filamin B IAGP ORPHA:1190 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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 UFSP2 UFM1 specific peptidase 2 IAGP ORPHA:2114 HPO NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
JBrowse link
Abnormal proximal phalanx morphology of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREBBP CREB binding protein IAGP ORPHA:353281 HPO NCBI chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G EP300 E1A binding protein p300 IAGP ORPHA:353284 HPO NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
Abnormal thumb morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:2639 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G CLIC2 chloride intracellular channel 2 IAGP ORPHA:324410 HPO NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657
JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Abnormality of the thumb ClinVar PMID:25741868 NCBI chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Abnormality of the thumb ClinVar PMID:25741868 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G FANCG FA complementation group G IAGP OMIM:614082 HPO NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,079,942
JBrowse link
G FIBP FGF1 intracellular binding protein IAGP ORPHA:500095 HPO NCBI chr11:65,883,740...65,888,510
Ensembl chr11:65,883,740...65,888,531
JBrowse link
G FLNB filamin B IAGP DNA:mutations:cds: RGD PMID:27048506 RGD:12791024 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:2639 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G MED12 mediator complex subunit 12 IAGP ORPHA:93932 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,556...71,142,454
JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP ORPHA:67036 HPO NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,427...45,602,212
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP ORPHA:1452 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G SPART spartin IAGP ORPHA:101000 HPO NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
JBrowse link
G TBX5 T-box transcription factor 5 IAGP ClinVar Annotator: match by term: Abnormality of the thumbs ClinVar NCBI chr12:114,353,911...114,408,708
Ensembl chr12:114,353,911...114,408,442
JBrowse link
Abnormal upper limb bone morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH2A usherin IAGP ClinVar Annotator: match by term: Abnormal shape of bones of the upper limbs ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
Abnormalities of the metaphyses of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL10A1 collagen type X alpha 1 chain IAGP ORPHA:174 HPO NCBI chr 6:116,118,909...116,219,937
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
Abnormality of femoral epiphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPG2 heparan sulfate proteoglycan 2 IAGP OMIM:255800 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
Abnormality of femur morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated IAGP ORPHA:84 HPO NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ORPHA:84 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 ORPHA:84 HPO NCBI chr17:61,679,139...61,864,120
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP ORPHA:909 HPO NCBI chr 2:218,781,733...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ORPHA:84 HPO NCBI chr16:13,920,137...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G ESR2 estrogen receptor 2 IAGP DNA:SNPs, haplotype:intron, 3' utr:IVS2+520C>T, g.*39G>A (rs1256031, rs4986938) RGD PMID:16939403 RGD:10045848 NCBI chr14:64,226,707...64,338,631
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:321 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP ORPHA:321 HPO NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G FANCA FA complementation group A IAGP ORPHA:84 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FANCB FA complementation group B IAGP ORPHA:84 HPO NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
JBrowse link
G FANCC FA complementation group C IAGP ORPHA:84 HPO NCBI chr 9:95,099,054...95,317,730
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FANCD2 FA complementation group D2 IAGP ORPHA:84 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 ORPHA:84 HPO NCBI chr 6:35,452,338...35,467,106
Ensembl chr 6:35,452,338...35,467,102
JBrowse link
G FANCF FA complementation group F IAGP ORPHA:84 HPO NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FANCG FA complementation group G IAGP ORPHA:84 HPO NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,079,942
JBrowse link
G FANCI FA complementation group I IAGP ORPHA:84 HPO NCBI chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FANCL FA complementation group L IAGP ORPHA:84 HPO NCBI chr 2:58,159,243...58,241,681
Ensembl chr 2:58,159,243...58,241,372
JBrowse link
G FANCM FA complementation group M IAGP ORPHA:84 HPO NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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 FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:429 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNB filamin B IAGP ORPHA:1263 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GLA galactosidase alpha IAGP ORPHA:324 HPO NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G GNAS GNAS complex locus IAGP ORPHA:562 HPO NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GPC6 glypican 6 IAGP ORPHA:93329 HPO NCBI chr13:93,226,807...94,408,020
Ensembl chr13:93,226,807...94,408,020
JBrowse link
G IGF1 insulin like growth factor 1 IAGP DNA:repeat:promoter RGD PMID:16939403 RGD:10045848 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ORPHA:2614 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
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 MAD2L2 mitotic arrest deficient 2 like 2 IAGP ORPHA:84 HPO NCBI chr 1:11,674,480...11,691,559
Ensembl chr 1:11,674,480...11,691,650
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ORPHA:84 HPO NCBI chr16:23,603,162...23,641,337
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G RAD51 RAD51 recombinase IAGP ORPHA:84 HPO NCBI chr15:40,694,774...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RAD51C RAD51 paralog C IAGP ORPHA:84 HPO NCBI chr17:58,692,140...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP ORPHA:84 HPO NCBI chr16:74,621,396...74,666,892
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G SHOX short stature homeobox IAGP ORPHA:240 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ORPHA:84 HPO NCBI chr16:3,579,653...3,611,639
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP ORPHA:1802 HPO NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP ORPHA:84 HPO NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,657...202,341,980
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP ORPHA:84 HPO NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,141
JBrowse link
Abnormality of fibula morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP ORPHA:198 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,656...78,050,395
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:85198 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ORPHA:1540 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FLNB filamin B IAGP ORPHA:1190 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
Abnormality of finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A2 ATPase cation transporting 13A2 IAGP ORPHA:306674 HPO NCBI chr 1:16,985,958...17,011,972
Ensembl chr 1:16,985,958...17,011,928
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP ORPHA:909 HPO NCBI chr 2:218,781,733...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP ORPHA:811 HPO NCBI chr 5:34,929,540...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP ORPHA:811 HPO NCBI chr15:82,130,223...82,262,734
Ensembl chr15:82,130,233...82,262,734
JBrowse link
G HOXD13 homeobox D13 IAGP ClinVar Annotator: match by term: Abnormality of finger ClinVar PMID:25741868 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP OMIM:163200 HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G INPP5K inositol polyphosphate-5-phosphatase K IAGP ORPHA:559 HPO NCBI chr17:1,494,575...1,516,735
Ensembl chr17:1,494,577...1,516,742
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP OMIM:163200 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP OMIM:163200 HPO NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP ORPHA:811 HPO NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,587
JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP ORPHA:559 HPO NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
JBrowse link
G SRP54 signal recognition particle 54 IAGP ORPHA:811 HPO NCBI chr14:34,982,981...35,029,567
Ensembl chr14:34,981,957...35,029,686
JBrowse link
Abnormality of lower-limb metaphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHEX phosphate regulating endopeptidase homolog X-linked IAGP ORPHA:89936 HPO NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713
JBrowse link
Abnormality of metacarpal epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Abnormality of metacarpophalangeal joint term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD55 ankyrin repeat domain 55 IAGP ORPHA:85408 HPO NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330
JBrowse link
G CD247 CD247 molecule IAGP ORPHA:85408 HPO NCBI chr 1:167,430,640...167,518,542
Ensembl chr 1:167,430,640...167,518,610
JBrowse link
G HFE homeostatic iron regulator IAGP ORPHA:465508 HPO NCBI chr 6:26,087,347...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP ORPHA:85408 HPO NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP ORPHA:85408 HPO NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,125,843...37,175,054
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 PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP ORPHA:85408 HPO NCBI chr18:12,785,478...12,884,351
Ensembl chr18:12,785,478...12,929,643
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:85408 HPO NCBI chr 1:113,813,811...113,871,761
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:85408 HPO NCBI chr 2:191,029,576...191,172,684
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
Abnormality of radial epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A1 collagen type IX alpha 1 chain IAGP ORPHA:166002 HPO NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP ORPHA:166002 HPO NCBI chr 1:40,300,487...40,317,653
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ORPHA:166002 HPO NCBI chr20:62,817,050...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
Abnormality of radial ray term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RFWD3 ring finger and WD repeat domain 3 IAGP OMIM:617784 HPO NCBI chr16:74,621,396...74,666,892
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G TBX5 T-box transcription factor 5 IAGP ClinVar Annotator: match by term: Radial ray deformity ClinVar NCBI chr12:114,353,911...114,408,708
Ensembl chr12:114,353,911...114,408,442
JBrowse link
Abnormality of the 5th metacarpal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ORPHA:397715 HPO NCBI chr 8:67,062,417...67,198,003
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G KIAA0586 KIAA0586 IAGP ORPHA:397715 HPO NCBI chr14:58,427,400...58,551,297
Ensembl chr14:58,427,385...58,551,297
JBrowse link
Abnormality of the 5th toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM1 FRAS1 related extracellular matrix 1 IAGP ORPHA:217266 HPO NCBI chr 9:14,734,666...14,911,653
Ensembl chr 9:14,737,152...14,910,995
JBrowse link
Abnormality of the calcaneus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC6 histone deacetylase 6 IAGP ORPHA:163966 HPO NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982
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
Abnormality of the distal phalanx of the thumb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CWF19L1 CWF19 like cell cycle control factor 1 IAGP ORPHA:453521 HPO NCBI chr10:100,232,298...100,267,638
Ensembl chr10:100,232,298...100,267,680
JBrowse link
Abnormality of the epiphyses of the elbow term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A1 collagen type IX alpha 1 chain IAGP ORPHA:166002 HPO NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP ORPHA:166002 HPO NCBI chr 1:40,300,487...40,317,653
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ORPHA:166002 HPO NCBI chr20:62,817,050...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
Abnormality of the epiphyses of the feet term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A1 collagen type IX alpha 1 chain IAGP ORPHA:166002 HPO NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP ORPHA:166002 HPO NCBI chr 1:40,300,487...40,317,653
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ORPHA:166002 HPO NCBI chr20:62,817,050...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
G MATN3 matrilin 3 IAGP ORPHA:93311 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
Abnormality of the epiphysis of the femoral head term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:485 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G RINT1 RAD50 interactor 1 IAGP OMIM:618641 HPO NCBI chr 7:105,532,170...105,567,678
Ensembl chr 7:105,532,169...105,567,677
JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP ORPHA:2114 HPO NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
JBrowse link
Abnormality of the femoral metaphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 IAGP ORPHA:668 HPO NCBI chr22:28,687,743...28,741,866
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ORPHA:90307 HPO NCBI chr 5:87,267,845...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ORPHA:668 HPO NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G TP53 tumor protein p53 IAGP ORPHA:668 HPO NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP OMIM:200600 HPO NCBI chr14:91,965,991...92,040,134
Ensembl chr14:91,965,991...92,040,896
JBrowse link
Abnormality of the fifth metatarsal bone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP OMIM:311300 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
Abnormality of the first metatarsal bone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 IAGP OMIM:135100 ORPHA:337 HPO NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
JBrowse link
Abnormality of the hallux term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP ORPHA:456312 HPO NCBI chr17:59,697,306...59,707,626
Ensembl chr17:59,674,636...59,707,626
JBrowse link
Abnormality of the humerus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:321 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP ORPHA:321 HPO NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G FLNB filamin B IAGP ORPHA:1263 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G MACROH2A1 macroH2A.1 histone IAGP ORPHA:1275 HPO NCBI chr 5:135,334,381...135,401,998
Ensembl chr 5:135,333,900...135,399,914
JBrowse link
G PITX1 paired like homeodomain 1 IAGP ORPHA:1275 HPO NCBI chr 5:135,027,734...135,034,228
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G SHOX short stature homeobox IAGP OMIM:127300 ORPHA:240 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
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 TBX5 T-box transcription factor 5 IAGP ORPHA:392 HPO NCBI chr12:114,353,911...114,408,708
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ORPHA:1328 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
Abnormality of the medullary cavity of the long bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111A FAM111 trypsin like peptidase A IAGP OMIM:127000 HPO NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
JBrowse link
Abnormality of the metacarpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ORPHA:965 HPO NCBI chr12:21,797,389...21,941,863
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP ORPHA:744 HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
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 ARHGAP31 Rho GTPase activating protein 31 IAGP ORPHA:974 HPO NCBI chr 3:119,294,289...119,420,714
Ensembl chr 3:119,294,383...119,420,714
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...1,475,084
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP ORPHA:818 HPO NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
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 EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP ORPHA:974 HPO NCBI chr 3:68,975,220...69,013,961
Ensembl chr 3:68,975,217...69,013,684
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP OMIM:268300 HPO NCBI chr 8:27,771,949...27,812,430
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:93262 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNA filamin A IAGP 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 FLNB filamin B IAGP ORPHA:1263 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G INPP5K inositol polyphosphate-5-phosphatase K IAGP ORPHA:559 HPO NCBI chr17:1,494,575...1,516,735
Ensembl chr17:1,494,577...1,516,742
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP ORPHA:2378 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP ORPHA:3258 HPO NCBI chr11:46,854,715...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP ORPHA:2473 HPO NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
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 PTDSS1 phosphatidylserine synthase 1 IAGP ORPHA:2658 HPO NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ORPHA:744 HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP ORPHA:974 HPO NCBI chr 4:26,163,458...26,435,131
Ensembl chr 4:26,163,455...26,435,131
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ORPHA:1225 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP ORPHA:2636 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP ORPHA:1452 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP ORPHA:137834 HPO NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP ORPHA:559 HPO NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP ORPHA:2095 HPO NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:628 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP ORPHA:3051 HPO NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP ORPHA:1106 HPO NCBI chr14:69,879,388...70,032,366
Ensembl chr14:69,854,131...70,032,366
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 TBX5 T-box transcription factor 5 IAGP ORPHA:392 HPO NCBI chr12:114,353,911...114,408,708
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP ORPHA:93357 HPO NCBI chr 8:144,428,775...144,444,488
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
Abnormality of the metaphysis term browser
Symbol Object Name Qualifiers 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...21,941,863
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G ACSL4 acyl-CoA synthetase long chain family member 4 IAGP ORPHA:86818 HPO NCBI chr  X:109,641,335...109,733,325
Ensembl chr  X:109,624,244...109,733,403
JBrowse link
G ADA adenosine deaminase IAGP ORPHA:39041 HPO NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,619,522...44,652,233
JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP ORPHA:86818 HPO NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318
JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP ORPHA:1522 HPO NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP ORPHA:2067 HPO NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ORPHA:565 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,656...78,050,395
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:93359 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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 CASR calcium sensing receptor IAGP ORPHA:417 HPO NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP ORPHA:2616 HPO NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564
JBrowse link
G CEP120 centrosomal protein 120 IAGP ORPHA:474 HPO NCBI chr 5:123,344,890...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ORPHA:39041 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP ORPHA:53 ORPHA:667 HPO NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,084
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ORPHA:2021 HPO NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ORPHA:1427 ORPHA:2021 HPO NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G CUL7 cullin 7 IAGP ORPHA:2616 HPO NCBI chr 6:43,037,617...43,053,945
Ensembl chr 6:43,037,617...43,053,943
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP ORPHA:39041 HPO NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G DYM dymeclin IAGP ORPHA:239 HPO NCBI chr18:49,036,387...49,460,709
Ensembl chr18:49,036,387...49,461,347
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ORPHA:474 ORPHA:93271 HPO NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP ORPHA:474 ORPHA:93271 HPO NCBI chr 7:158,839,245...158,958,695
Ensembl chr 7:158,856,558...158,956,747
JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP ORPHA:474 ORPHA:93271 HPO NCBI chr 9:128,633,653...128,656,847
Ensembl chr 9:128,633,653...128,656,847
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ORPHA:474 HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EED embryonic ectoderm development IAGP ORPHA:3447 HPO NCBI chr11:86,244,753...86,285,420
Ensembl chr11:86,244,753...86,278,813
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP ORPHA:1667 HPO NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G EXOC6B exocyst complex component 6B IAGP ORPHA:93359 HPO NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:321 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP ORPHA:321 HPO NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP ORPHA:3447 HPO NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FBN1 fibrillin 1 IAGP ORPHA:2462 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:1860 ORPHA:429 ORPHA:93274 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNA filamin A IAGP ORPHA:2484 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP ORPHA:1522 ORPHA:2710 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GPC6 glypican 6 IAGP ORPHA:93329 HPO NCBI chr13:93,226,807...94,408,020
Ensembl chr13:93,226,807...94,408,020
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP ORPHA:1865 ORPHA:800 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ORPHA:296 HPO NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ORPHA:296 HPO NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G IFT122 intraflagellar transport 122 IAGP ORPHA:1515 HPO NCBI chr 3:129,440,075...129,520,507
Ensembl chr 3:129,440,036...129,520,507
JBrowse link
G IFT140 intraflagellar transport 140 IAGP ORPHA:474 HPO NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IFT172 intraflagellar transport 172 IAGP ORPHA:474 HPO NCBI chr 2:27,444,373...27,489,819
Ensembl chr 2:27,444,377...27,489,805
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 ORPHA:1515 HPO NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G IFT80 intraflagellar transport 80 IAGP ORPHA:474 ORPHA:93271 HPO NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP ORPHA:39041 HPO NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link
G IL7R interleukin 7 receptor IAGP ORPHA:39041 HPO NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP ORPHA:2746 HPO NCBI chr11:72,223,861...72,239,147
Ensembl chr11:72,223,701...72,239,147
JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 IAGP ORPHA:86818 HPO NCBI chr  X:109,623,700...109,625,172
Ensembl chr  X:109,623,700...109,625,172
JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP ORPHA:1517 HPO NCBI chr12:21,764,955...21,775,593
Ensembl chr12:21,764,955...21,775,600
JBrowse link
G LEMD3 LEM domain containing 3 IAGP ORPHA:1306 HPO NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G LIG4 DNA ligase 4 IAGP ORPHA:39041 HPO NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP ORPHA:931 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP ORPHA:666 HPO NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP ORPHA:93356 HPO NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G NOTCH3 notch receptor 3 IAGP ORPHA:2591 HPO NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ORPHA:3447 HPO NCBI chr 5:177,131,835...177,300,213
Ensembl chr 5:177,133,025...177,300,213
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP ORPHA:2616 HPO NCBI chr 2:219,549,408...219,571,573
Ensembl chr 2:219,550,728...219,571,859
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP ORPHA:534 HPO NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP ORPHA:2050 HPO NCBI chr17:81,843,159...81,860,535
Ensembl chr17:81,843,159...81,860,856
JBrowse link
G PCNT pericentrin IAGP ORPHA:2637 HPO NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP ORPHA:2591 HPO NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP ORPHA:2658 HPO NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP ORPHA:296 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ORPHA:2499 HPO NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAG1 recombination activating 1 IAGP ORPHA:39041 HPO NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,709...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP ORPHA:39041 HPO NCBI chr11:36,591,943...36,598,236
Ensembl chr11:36,575,574...36,598,279
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ORPHA:39041 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 RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP ORPHA:2636 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP ORPHA:2050 HPO NCBI chr 4:118,722,823...118,838,683
Ensembl chr 4:118,722,823...118,838,683
JBrowse link
G SHOX short stature homeobox IAGP ORPHA:240 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G SKI SKI proto-oncogene IAGP ORPHA:2462 HPO NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,228,319...2,310,213
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:628 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP ORPHA:157965 HPO NCBI chr11:47,407,132...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
G SMAD4 SMAD family member 4 IAGP ORPHA:2588 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SNX10 sorting nexin 10 IAGP ORPHA:667 HPO NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP ORPHA:3447 HPO NCBI chr17:31,937,007...32,001,040
Ensembl chr17:31,937,007...32,001,038
JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP ORPHA:1802 HPO NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP ORPHA:667 HPO NCBI chr11:68,039,000...68,053,846
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP ORPHA:666 HPO NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774
JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP ORPHA:667 HPO NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP ORPHA:93357 HPO NCBI chr 8:144,428,775...144,444,488
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP ORPHA:166272 HPO NCBI chr14:91,965,991...92,040,134
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ORPHA:93304 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ORPHA:474 HPO NCBI chr 2:165,873,362...165,953,781
Ensembl chr 2:165,857,475...165,953,851
JBrowse link
G WDR19 WD repeat domain 19 IAGP ORPHA:1515 ORPHA:474 HPO NCBI chr 4:39,182,473...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR35 WD repeat domain 35 IAGP ORPHA:1515 ORPHA:93271 HPO NCBI chr 2:19,910,260...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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
Abnormality of the radial head term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 IAGP ORPHA:221008 HPO NCBI chr 2:111,766,150...111,884,196
Ensembl chr 2:111,611,639...111,884,690
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP OMIM:216100 HPO NCBI chr 8:27,771,949...27,812,430
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ORPHA:221016 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
Abnormality of the radius term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:2639 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G FLNB filamin B IAGP ORPHA:1263 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:2639 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GPC6 glypican 6 IAGP ORPHA:93329 HPO NCBI chr13:93,226,807...94,408,020
Ensembl chr13:93,226,807...94,408,020
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
Abnormality of the tarsal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP ORPHA:90650 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
Abnormality of the tibial metaphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 IAGP ORPHA:668 HPO NCBI chr22:28,687,743...28,741,866
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ORPHA:668 HPO NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G TP53 tumor protein p53 IAGP ORPHA:668 HPO NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
Abnormality of the ulna term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGA aspartylglucosaminidase IAGP ORPHA:93 HPO NCBI chr 4:177,430,774...177,442,469
Ensembl chr 4:177,430,774...177,442,437
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:2639 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ORPHA:1340 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G FLNB filamin B IAGP ORPHA:1263 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:2639 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ORPHA:1340 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MACROH2A1 macroH2A.1 histone IAGP ORPHA:1275 HPO NCBI chr 5:135,334,381...135,401,998
Ensembl chr 5:135,333,900...135,399,914
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ORPHA:1340 HPO NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,544
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ORPHA:1340 HPO NCBI chr19:4,090,321...4,124,184
Ensembl chr19:4,090,321...4,124,122
JBrowse link
G PITX1 paired like homeodomain 1 IAGP ORPHA:1275 HPO NCBI chr 5:135,027,734...135,034,228
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G PLXND1 plexin D1 IAGP ORPHA:570 HPO NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP ORPHA:570 HPO NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
JBrowse link
G SHOX short stature homeobox IAGP ORPHA:2632 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ORPHA:1328 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
Abnormality of tibia morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP ORPHA:64755 HPO NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:2639 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ORPHA:138 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP ORPHA:909 HPO NCBI chr 2:218,781,733...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:321 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP ORPHA:321 HPO NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G FLNB filamin B IAGP ORPHA:1263 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:2639 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP ORPHA:1525 HPO NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ORPHA:2614 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP ORPHA:666 HPO NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G NF1 neurofibromin 1 IAGP ORPHA:363700 HPO NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G SEMA3E semaphorin 3E IAGP ORPHA:138 HPO NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP ORPHA:1802 HPO NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP ORPHA:666 HPO NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ORPHA:1328 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G WNT7A Wnt family member 7A IAGP ORPHA:2879 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Abnormality of toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP OMIM:216100 HPO NCBI chr 8:27,771,949...27,812,430
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP OMIM:163200 HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP OMIM:163200 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP OMIM:163200 HPO NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP OMIM:311200 HPO NCBI chr  X:13,734,726...13,773,978
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP ORPHA:459033 HPO NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
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
Abnormality of ulnar metaphysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 IAGP ORPHA:221008 HPO NCBI chr 2:111,766,150...111,884,196
Ensembl chr 2:111,611,639...111,884,690
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:85198 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G MAGEL2 MAGE family member L2 IAGP ORPHA:177910 HPO NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP ORPHA:1040 HPO NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MMP9 matrix metallopeptidase 9 IAGP ORPHA:1040 HPO NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NDN necdin, MAGE family member IAGP ORPHA:177910 HPO NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ORPHA:221016 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP ORPHA:177910 HPO NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
Abnormality of upper limb epiphysis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MATN3 matrilin 3 IAGP ORPHA:93311 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
Absent distal interphalangeal creases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP OMIM:186300 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:112500 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP OMIM:161200 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
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 TPM2 tropomyosin 2 IAGP OMIM:108120 HPO NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
Absent distal phalanges term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
Absent distal phalanx of the 2nd toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Absent first metatarsal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101400 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP OMIM:101400 HPO NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
Absent fourth finger distal interphalangeal crease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Absent hallux term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP ORPHA:93322 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
Absent hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP31 Rho GTPase activating protein 31 IAGP ORPHA:974 HPO NCBI chr 3:119,294,289...119,420,714
Ensembl chr 3:119,294,383...119,420,714
JBrowse link
G BTRC beta-transducin repeat containing E3 ubiquitin protein ligase IAGP ORPHA:2440 HPO NCBI chr10:101,353,808...101,557,313
Ensembl chr10:101,354,033...101,557,321
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 DLX5 distal-less homeobox 5 IAGP ORPHA:2440 HPO NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950
JBrowse link
G DLX6 distal-less homeobox 6 IAGP ORPHA:2440 HPO NCBI chr 7:97,005,553...97,011,040
Ensembl chr 7:97,005,553...97,011,040
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 EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP ORPHA:974 HPO NCBI chr 3:68,975,220...69,013,961
Ensembl chr 3:68,975,217...69,013,684
JBrowse link
G EPS15L1 epidermal growth factor receptor pathway substrate 15 like 1 IAGP ORPHA:2440 HPO NCBI chr19:16,355,244...16,472,012
Ensembl chr19:16,355,239...16,472,085
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ORPHA:464 HPO NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:200500 ORPHA:931 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
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 PLXND1 plexin D1 IAGP ORPHA:570 HPO NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP ORPHA:974 HPO NCBI chr 4:26,163,458...26,435,131
Ensembl chr 4:26,163,455...26,435,131
JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP ORPHA:570 HPO NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
JBrowse link
G SEM1 SEM1 26S proteasome subunit IAGP ORPHA:2440 HPO NCBI chr 7:96,481,626...96,709,846
Ensembl chr 7:96,481,626...96,709,891
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 TP63 tumor protein p63 IAGP ORPHA:2440 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G WNT10B Wnt family member 10B IAGP ORPHA:2440 HPO NCBI chr12:48,965,340...48,979,587
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Absent humerus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP ORPHA:56305 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
Absent metatarsal bone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP OMIM:200500 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
Absent middle phalanx of 5th finger term browser
Symbol Object Name Qualifiers 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 phalangeal crease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A2 collagen type I alpha 2 chain IAGP ORPHA:230851 HPO NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G MYH3 myosin heavy chain 3 IAGP OMIM:618469 HPO NCBI chr17:10,628,527...10,678,347
Ensembl chr17:10,628,526...10,657,309
JBrowse link
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 PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP OMIM:108145 HPO NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP OMIM:601680 HPO NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
JBrowse link
Absent primary metaphyseal spongiosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:156530 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Absent proximal finger flexion creases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX15 T-box transcription factor 15 IAGP OMIM:260660 HPO NCBI chr 1:118,883,046...118,989,510
Ensembl chr 1:118,883,046...118,989,556
JBrowse link
Absent proximal phalanx of thumb term browser
Symbol Object Name Qualifiers 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
Absent radius term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 CHN1 chimerin 1 IAGP ORPHA:233 HPO NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP OMIM:251230 HPO NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706
JBrowse link
G FANCA FA complementation group A IAGP OMIM:227650 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FANCB FA complementation group B IAGP OMIM:314390 HPO NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
JBrowse link
G FANCC FA complementation group C IAGP OMIM:227645 HPO NCBI chr 9:95,099,054...95,317,730
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...35,467,106
Ensembl chr 6:35,452,338...35,467,102
JBrowse link
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
G FLNB filamin B IAGP OMIM:112310 ORPHA:56305 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ORPHA:93322 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:135750 OMIM:200500 ORPHA:2378 ORPHA:931 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G MAFB MAF bZIP transcription factor B IAGP ORPHA:233 HPO NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP ORPHA:3320 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,917,714...145,927,678
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:218600
ClinVar Annotator: match by term: Absent radius
HPO
ClinVar
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP OMIM:607323 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 SF3B4 splicing factor 3b subunit 4 IAGP OMIM:154400 HPO NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
JBrowse link
G TBX3 T-box transcription factor 3 IAGP OMIM:181450 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
G TBX5 T-box transcription factor 5 IAGP OMIM:142900 HPO NCBI chr12:114,353,911...114,408,708
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G ZIC3 Zic family member 3 IAGP OMIM:314390 HPO NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
Absent scaphoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XRCC2 X-ray repair cross complementing 2 IAGP OMIM:617247 HPO NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,141
JBrowse link
Absent styloid process of ulna term browser
Symbol Object Name Qualifiers 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
Absent thumb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP ORPHA:124 HPO NCBI chr22:17,178,790...17,221,854
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G CUL3 cullin 3 IAGP OMIM:619239 HPO NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP OMIM:615272 HPO NCBI chr16:13,920,137...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G FANCA FA complementation group A IAGP OMIM:227650 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FANCB FA complementation group B IAGP OMIM:300514 HPO NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
JBrowse link
G FANCC FA complementation group C IAGP OMIM:227645 HPO NCBI chr 9:95,099,054...95,317,730
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...35,467,106
Ensembl chr 6:35,452,338...35,467,102
JBrowse link
G FANCI FA complementation group I IAGP OMIM:609053 HPO NCBI chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FANCL FA complementation group L IAGP OMIM:614083 HPO NCBI chr 2:58,159,243...58,241,681
Ensembl chr 2:58,159,243...58,241,372
JBrowse link
G FGF10 fibroblast growth factor 10 IAGP ORPHA:2363 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 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...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP OMIM:216340 ORPHA:3472 HPO NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G GATA1 GATA binding protein 1 IAGP ORPHA:124 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...48,794,311
JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP OMIM:617516 HPO NCBI chr17:67,337,916...67,366,598
Ensembl chr17:67,337,916...67,366,605
JBrowse link
G RAD51C RAD51 paralog C IAGP OMIM:613390 HPO NCBI chr17:58,692,140...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:266280 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP OMIM:617784 HPO NCBI chr16:74,621,396...74,666,892
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP OMIM:263650 ORPHA:1234 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 OMIM:614900 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 OMIM:105650 HPO NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
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 RSPO2 R-spondin 2 IAGP OMIM:618022 HPO NCBI chr 8:107,899,316...108,083,680
Ensembl chr 8:107,899,316...108,083,642
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP OMIM:147750 OMIM:607323
DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X
HPO PMID:12843316 RGD:11556209 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link