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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 epiphysis morphology
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Accession:HP:0005930 term browser browse the term
Definition:An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Synonyms:exact_synonym: Abnormal shape of end part of bone;   Abnormality of the epiphyses;   Anomaly of the epiphyses;   Epiphyseal abnormality
 alt_id: HP:0000936
 xref: UMLS:C4021611



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Abnormality of epiphysis morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP ORPHA:93283 HPO NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
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 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 CA2 carbonic anhydrase 2 IAGP ORPHA:2785 HPO NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
JBrowse link
G CDC45 cell division cycle 45 IAGP ORPHA:2554 HPO NCBI chr22:19,479,294...19,520,612
Ensembl chr22:19,479,457...19,520,612
JBrowse link
G CDC6 cell division cycle 6 IAGP ORPHA:2554 HPO NCBI chr17:40,287,878...40,304,657
Ensembl chr17:40,287,879...40,304,657
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP ORPHA:2554 HPO NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
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 CTSK cathepsin K IAGP ORPHA:763 HPO NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP ORPHA:35173 HPO NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
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 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 FLNB filamin B IAGP ORPHA:503 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:2639 ORPHA:63442 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GMNN geminin DNA replication inhibitor IAGP ORPHA:2554 HPO NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
JBrowse link
G GORAB golgin, RAB6 interacting IAGP ORPHA:2078 HPO NCBI chr 1:170,532,134...170,553,834
Ensembl chr 1:170,532,131...170,553,834
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP ORPHA:2796 HPO NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP ORPHA:800 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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 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 KIF1A kinesin family member 1A IAGP ORPHA:970 HPO NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
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 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 LONP1 lon peptidase 1, mitochondrial IAGP ORPHA:1458 HPO NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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 MAFB MAF bZIP transcription factor B IAGP ORPHA:2774 HPO NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP ORPHA:1040 ORPHA:2501 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 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 ORC1 origin recognition complex subunit 1 IAGP ORPHA:2554 HPO NCBI chr 1:52,372,829...52,404,446
Ensembl chr 1:52,372,829...52,404,423
JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP ORPHA:2554 HPO NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP ORPHA:2554 HPO NCBI chr16:46,689,656...46,698,394
Ensembl chr16:46,689,643...46,698,394
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 PEX1 peroxisomal biogenesis factor 1 IAGP ORPHA:772 HPO NCBI chr 7:92,487,023...92,528,520
Ensembl chr 7:92,487,020...92,528,520
JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP ORPHA:772 HPO NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP ORPHA:772 HPO NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP ORPHA:772 HPO NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP ORPHA:772 HPO NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP ORPHA:772 HPO NCBI chr 1:10,474,946...10,630,758
Ensembl chr 1:10,472,288...10,630,758
JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP ORPHA:772 HPO NCBI chr11:45,909,663...45,917,877
Ensembl chr11:45,909,663...45,918,812
JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP ORPHA:772 HPO NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP ORPHA:772 HPO NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP ORPHA:772 HPO NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP ORPHA:772 HPO NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP ORPHA:772 HPO NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP ORPHA:772 HPO NCBI chr 6:42,963,865...42,980,224
Ensembl chr 6:42,963,865...42,979,181
JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP ORPHA:773 HPO NCBI chr 6:136,821,683...136,913,934
Ensembl chr 6:136,822,564...136,913,934
JBrowse link
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
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ORPHA:773 HPO NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP ORPHA:3474 HPO NCBI chr17:16,217,209...16,351,800
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PORCN porcupine O-acyltransferase IAGP ORPHA:2092 HPO NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PRDM5 PR/SET domain 5 IAGP ORPHA:90354 HPO NCBI chr 4:120,684,906...120,922,849
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP ORPHA:50945 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 PYCR1 pyrroline-5-carboxylate reductase 1 IAGP ORPHA:2078 HPO NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
JBrowse link
G RETREG1 reticulophagy regulator 1 IAGP ORPHA:970 HPO NCBI chr 5:16,473,038...16,617,096
Ensembl chr 5:16,473,038...16,617,101
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ORPHA:175 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G 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 SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ORPHA:970 HPO NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
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 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 SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP ORPHA:2796 HPO NCBI chr 3:133,932,701...134,029,955
Ensembl chr 3:133,932,701...134,052,184
JBrowse link
G 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 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 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 TBX4 T-box transcription factor 4 IAGP ORPHA:1509 ORPHA:261279 HPO NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
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 TGDS TDP-glucose 4,6-dehydratase IAGP ORPHA:1388 HPO NCBI chr13:94,574,054...94,596,274
Ensembl chr13:94,574,054...94,596,242
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 TREM2 triggering receptor expressed on myeloid cells 2 IAGP ORPHA:2770 HPO NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP ORPHA:2770 HPO NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP ORPHA:970 HPO NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452
JBrowse link
G ZNF469 zinc finger protein 469 IAGP ORPHA:90354 HPO NCBI chr16:88,382,959...88,440,753
Ensembl chr16:88,382,959...88,440,757
JBrowse link
Abnormal epiphysis morphology of the phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:619248 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Abnormality of femoral epiphysis term browser
Symbol Object Name 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 metacarpal epiphyses term browser
Symbol Object Name 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 radial epiphyses term browser
Symbol Object Name 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 elbow term browser
Symbol Object Name 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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:93316 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 ulnar epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:93307 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
Abnormality of tibial epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:166011 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Abnormality of upper limb epiphysis morphology term browser
Symbol Object Name 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
Abnormality of vertebral epiphysis morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:90653 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Absent epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Absent end part of bone ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:28492532 PMID:29186038 NCBI chr 9:136,428,619...136,439,861
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP OMIM:600373 HPO NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Absent end part of bone ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Absent end part of bone ClinVar PMID:25741868 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
JBrowse link
Absent epiphyses of the phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ORPHA:93314 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Absent knee epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP OMIM:210710 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
Absent styloid process of ulna term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Aplasia/Hypoplasia of the capital femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain IAGP OMIM:215150 HPO NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
Avascular necrosis of the capital femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP ORPHA:1901 HPO NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP ORPHA:1901 HPO NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
JBrowse link
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 COL1A1 collagen type I alpha 1 chain IAGP ORPHA:1899 HPO NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP ORPHA:1899 HPO NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:150600 OMIM:608805 ORPHA:93315
ClinVar Annotator: match by term: Perthes-like femoral head changes
ClinVar Annotator: match by term: Coxa plana
HPO
ClinVar
PMID:7695699 PMID:7752132 PMID:8218237 PMID:8325895 PMID:9016532 More... NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP ORPHA:93308 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G CREBBP CREB binding protein IAGP OMIM:180849 ORPHA:353277 ORPHA:353281 HPO NCBI chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP ORPHA:3107 HPO NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP ORPHA:3107 HPO NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:502 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G FN1 fibronectin 1 IAGP ORPHA:93315 HPO NCBI chr 2:215,360,862...215,436,167
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G FZD2 frizzled class receptor 2 IAGP ORPHA:3107 HPO NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP ClinVar Annotator: match by term: Perthes-like femoral head changes ClinVar PMID:19617216 PMID:23566849 PMID:25505245 PMID:25741868 PMID:25788519 More... NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G HP haptoglobin IAGP DNA:missense mutations, duplication:cds, exons, introns:p.A52D, p.E53K, 31-207dup RGD PMID:24567965 RGD:11041787 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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 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
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 SLC2A10 solute carrier family 2 member 10 IAGP ORPHA:3342 HPO NCBI chr20:46,708,358...46,736,347
Ensembl chr20:46,709,649...46,736,347
JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP ORPHA:2044 HPO NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
JBrowse link
G 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 TREX1 three prime repair exonuclease 1 IAGP ORPHA:247691 HPO NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP OMIM:190350 OMIM:190351 ORPHA:502 ORPHA:77258 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:617383 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP OMIM:142669 HPO NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
JBrowse link
G UNC45A unc-45 myosin chaperone A IAGP OMIM:619377 HPO NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093
JBrowse link
G WNT5A Wnt family member 5A IAGP ORPHA:3107 HPO NCBI chr 3:55,465,715...55,505,261
Ensembl chr 3:55,465,715...55,490,539
JBrowse link
Broad metacarpal epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Bulging epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 IAGP OMIM:300009 OMIM:300554 HPO NCBI chr  X:49,922,596...50,099,231
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP OMIM:264700 HPO NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP OMIM:600081 HPO NCBI chr11:14,877,440...14,898,915
Ensembl chr11:14,877,440...14,892,231
JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP OMIM:241530 HPO NCBI chr 9:137,230,757...137,236,555
Ensembl chr 9:137,230,757...137,236,555
JBrowse link
G VDR vitamin D receptor IAGP OMIM:277440 HPO NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
Calcaneal epiphyseal stippling term browser
Symbol Object Name 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 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP OMIM:117650 HPO NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
Cone-shaped capital femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP OMIM:300232 HPO NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
Cone-shaped distal radial epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
JBrowse link
Cone-shaped epiphyses fused within their metaphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
JBrowse link
Cone-shaped epiphyses of phalanges 2 to 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EVC EvC ciliary complex subunit 1 IAGP OMIM:225500 HPO NCBI chr 4:5,711,199...5,829,043
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP OMIM:225500 HPO NCBI chr 4:5,562,408...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
Cone-shaped epiphyses of the distal phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS28 mitochondrial ribosomal protein S28 IAGP OMIM:618958 HPO NCBI chr 8:79,918,717...80,030,259
Ensembl chr 8:79,918,717...80,030,289
JBrowse link
Cone-shaped epiphyses of the middle phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP OMIM:190350 OMIM:190351 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
Cone-shaped epiphyses of the phalanges of the hand term browser
Symbol Object Name 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 BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP OMIM:618150 ORPHA:85172 HPO NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G DYM dymeclin IAGP OMIM:223800 HPO NCBI chr18:49,036,387...49,460,709
Ensembl chr18:49,036,387...49,461,347
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:502 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:602849 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 OMIM:309350 ORPHA:2484 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GPX4 glutathione peroxidase 4 IAGP OMIM:250220 HPO NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,926...1,106,791
JBrowse link
G IFT140 intraflagellar transport 140 IAGP OMIM:617781 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 OMIM:615630 HPO NCBI chr 2:27,444,373...27,489,819
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT52 intraflagellar transport 52 IAGP OMIM:617102 HPO NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G KIF15 kinesin family member 15 IAGP ORPHA:261323 HPO NCBI chr 3:44,761,740...44,853,274
Ensembl chr 3:44,761,721...44,873,376
JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP OMIM:619269 HPO NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007
JBrowse link
G NEK1 NIMA related kinase 1 IAGP ORPHA:2751 HPO NCBI chr 4:169,392,809...169,612,629
Ensembl chr 4:169,392,809...169,612,627
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP OMIM:602875 HPO NCBI chr 9:35,782,086...35,809,731
Ensembl chr 9:35,791,591...35,809,732
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP OMIM:101800 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP OMIM:250460 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 RUNX2 RUNX family transcription factor 2 IAGP OMIM:119600 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP OMIM:136140 HPO NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP OMIM:184260 HPO NCBI chr14:91,965,991...92,040,134
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ORPHA:502 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
Cone-shaped epiphyses of the proximal phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPS1 transcriptional repressor GATA binding 1 IAGP OMIM:190350 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
Cone-shaped epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase IAGP ORPHA:808 HPO NCBI chr 3:142,449,235...142,578,793
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G ATRIP ATR interacting protein IAGP ORPHA:808 HPO NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:93384 ORPHA:93388 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G CENPE centromere protein E IAGP ORPHA:808 HPO NCBI chr 4:103,105,811...103,198,408
Ensembl chr 4:103,105,349...103,198,445
JBrowse link
G CENPJ centromere protein J IAGP ORPHA:808 HPO NCBI chr13:24,882,279...24,922,889
Ensembl chr13:24,882,279...24,922,889
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 CEP152 centrosomal protein 152 IAGP ORPHA:808 HPO NCBI chr15:48,662,534...48,811,904
Ensembl chr15:48,712,928...48,811,146
JBrowse link
G CEP164 centrosomal protein 164 IAGP ORPHA:3156 HPO NCBI chr11:117,316,346...117,413,266
Ensembl chr11:117,314,557...117,413,266
JBrowse link
G CEP290 centrosomal protein 290 IAGP ORPHA:3156 HPO NCBI chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
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 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 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP OMIM:613091 ORPHA:474 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 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 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 FBN1 fibrillin 1 IAGP OMIM:102370 OMIM:614185 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FGF9 fibroblast growth factor 9 IAGP ORPHA:3237 HPO NCBI chr13:21,671,073...21,704,501
Ensembl chr13:21,671,073...21,704,498
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:53271 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:3237 ORPHA:93384 ORPHA:93388 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GPX4 glutathione peroxidase 4 IAGP ORPHA:93317 HPO NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,926...1,106,791
JBrowse link
G IFT140 intraflagellar transport 140 IAGP OMIM:266920 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 IFT80 intraflagellar transport 80 IAGP ORPHA:474 HPO NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP ORPHA:93388 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G INVS inversin IAGP ORPHA:3156 HPO NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175
JBrowse link
G IQCB1 IQ motif containing B1 IAGP ORPHA:3156 HPO NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079
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
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP ORPHA:221139 HPO NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,246
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP OMIM:157800 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G MIR140 microRNA 140 IAGP OMIM:618618 HPO NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180
JBrowse link
G NOG noggin IAGP ORPHA:3237 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NPHP1 nephrocystin 1 IAGP ORPHA:3156 HPO NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G NPHP3 nephrocystin 3 IAGP ORPHA:3156 HPO NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
JBrowse link
G NPHP4 nephrocystin 4 IAGP ORPHA:3156 HPO NCBI chr 1:5,862,810...5,992,425
Ensembl chr 1:5,862,811...5,992,473
JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP OMIM:617253 HPO NCBI chr 8:125,091,779...125,367,125
Ensembl chr 8:125,091,679...125,367,120
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ORPHA:2750 HPO NCBI chr  X:13,734,726...13,773,978
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PCNT pericentrin IAGP OMIM:210720 ORPHA:808 HPO NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
JBrowse link
G PDE3A phosphodiesterase 3A IAGP OMIM:112410 HPO NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583
JBrowse link
G PDE4D phosphodiesterase 4D IAGP OMIM:614613 ORPHA:280651 ORPHA:439822 ORPHA:950 HPO NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP ORPHA:221139 HPO NCBI chr 1:9,629,889...9,729,114
Ensembl chr 1:9,651,731...9,729,114
JBrowse link
G PLK4 polo like kinase 4 IAGP ORPHA:808 HPO NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
JBrowse link
G POC1A POC1 centriolar protein A IAGP OMIM:614813 HPO NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:280651 ORPHA:950 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP ORPHA:808 HPO NCBI chr18:22,914,121...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP ORPHA:457395 HPO NCBI chr16:57,186,137...57,240,473
Ensembl chr16:57,186,137...57,240,469
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP ORPHA:3156 HPO NCBI chr 1:243,255,418...243,503,683
Ensembl chr 1:243,256,034...243,500,091
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 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 TRAF3IP1 TRAF3 interacting protein 1 IAGP ORPHA:3156 HPO NCBI chr 2:238,320,489...238,400,900
Ensembl chr 2:238,320,441...238,400,897
JBrowse link
G TRAIP TRAF interacting protein IAGP ORPHA:808 HPO NCBI chr 3:49,828,595...49,856,584
Ensembl chr 3:49,828,601...49,856,574
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 TRPS1 transcriptional repressor GATA binding 1 IAGP ORPHA:77258 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G 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:3156 ORPHA:474 HPO NCBI chr 4:39,182,473...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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
Cone-shaped epiphysis of the 1st metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
Cone-shaped metacarpal epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
JBrowse link
G GPX4 glutathione peroxidase 4 IAGP OMIM:250220 HPO NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,926...1,106,791
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP ORPHA:63446 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
Delayed epiphyseal ossification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 IAGP OMIM:300009 OMIM:300554 HPO NCBI chr  X:49,922,596...50,099,231
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
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 COL9A3 collagen type IX alpha 3 chain IAGP OMIM:600969 HPO NCBI chr20:62,817,050...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP OMIM:132400 OMIM:177170 ORPHA:750 ORPHA:93308 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP ORPHA:91 HPO NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP OMIM:264700 ORPHA:289157 HPO NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP OMIM:600081 ORPHA:289157 HPO NCBI chr11:14,877,440...14,898,915
Ensembl chr11:14,877,440...14,892,231
JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP ORPHA:93352 HPO NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685
JBrowse link
G ESR1 estrogen receptor 1 IAGP ORPHA:785 HPO NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G GPX4 glutathione peroxidase 4 IAGP OMIM:250220 HPO NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,926...1,106,791
JBrowse link
G KIF22 kinesin family member 22 IAGP ORPHA:93360 HPO NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,719...29,805,384
JBrowse link
G KIF7 kinesin family member 7 IAGP ORPHA:166024 HPO NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G MATN3 matrilin 3 IAGP DNA:missense mutation:cds:p.V194D (human) RGD PMID:11479597 RGD:1599920 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
G MIR140 microRNA 140 IAGP OMIM:618618 HPO NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180
JBrowse link
G PISD phosphatidylserine decarboxylase IAGP OMIM:618889 HPO NCBI chr22:31,618,491...31,662,564
Ensembl chr22:31,618,491...31,662,432
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP OMIM:600002 ORPHA:79106 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP OMIM:241530 HPO NCBI chr 9:137,230,757...137,236,555
Ensembl chr 9:137,230,757...137,236,555
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 TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ORPHA:93314 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G VDR vitamin D receptor IAGP OMIM:277440 HPO NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
Delayed phalangeal epiphyseal ossification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP ORPHA:420561 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G KIF22 kinesin family member 22 IAGP OMIM:603546 HPO NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,719...29,805,384
JBrowse link
Delayed proximal femoral epiphyseal ossification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP OMIM:271640 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:93296 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G DUOX2 dual oxidase 2 IAGP ORPHA:95716 HPO NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172
JBrowse link
G DUOXA2 dual oxidase maturation factor 2 IAGP ORPHA:95716 HPO NCBI chr15:45,114,321...45,118,421
Ensembl chr15:45,114,326...45,118,421
JBrowse link
G HESX1 HESX homeobox 1 IAGP ORPHA:226307 HPO NCBI chr 3:57,197,838...57,227,643
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G IYD iodotyrosine deiodinase IAGP ORPHA:95716 HPO NCBI chr 6:150,368,854...150,405,969
Ensembl chr 6:150,368,892...150,405,969
JBrowse link
G LHX3 LIM homeobox 3 IAGP ORPHA:226307 HPO NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G LHX4 LIM homeobox 4 IAGP ORPHA:226307 HPO NCBI chr 1:180,228,372...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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
G POU1F1 POU class 1 homeobox 1 IAGP ORPHA:226307 HPO NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP ORPHA:226307 HPO NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP ORPHA:353298 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G SLC5A5 solute carrier family 5 member 5 IAGP ORPHA:95716 HPO NCBI chr19:17,871,394...17,895,175
Ensembl chr19:17,871,945...17,895,174
JBrowse link
G TG thyroglobulin IAGP ORPHA:95716 HPO NCBI chr 8:132,866,943...133,134,902
Ensembl chr 8:132,866,958...133,134,903
JBrowse link
G TPO thyroid peroxidase IAGP ORPHA:95716 HPO NCBI chr 2:1,413,288...1,543,673
Ensembl chr 2:1,374,066...1,543,711
JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP ORPHA:90674 HPO NCBI chr 1:115,029,826...115,035,935
Ensembl chr 1:115,029,826...115,034,302
JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP ORPHA:90673 HPO NCBI chr14:80,954,989...81,146,306
Ensembl chr14:80,954,989...81,146,306
JBrowse link
Early ossification of capital femoral epiphyses term browser
Symbol Object Name 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
Enlarged epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN6 cellular communication network factor 6 IAGP OMIM:208230 HPO NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP ORPHA:3255 HPO NCBI chr 2:112,736,349...112,764,617
Ensembl chr 2:112,736,349...112,764,664
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP OMIM:184840 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:485 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP OMIM:613330 HPO NCBI chr 4:13,540,830...13,544,508
Ensembl chr 4:13,540,830...13,544,508
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP OMIM:269880 HPO NCBI chr 5:68,215,737...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
Enlarged epiphyses of the phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP ORPHA:93284 HPO NCBI chr  X:13,712,243...13,734,633
Ensembl chr  X:13,712,244...13,734,635
JBrowse link
Enlarged epiphysis of the middle phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Enlarged epiphysis of the middle phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Enlarged epiphysis of the proximal phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Enlarged epiphysis of the proximal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Enlargement of the distal femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
Enlargement of the proximal femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN6 cellular communication network factor 6 IAGP ORPHA:1159 HPO NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP OMIM:156500 HPO NCBI chr 6:116,118,909...116,219,937
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
Epiphyseal deformities of tubular bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP OMIM:253000 HPO NCBI chr16:88,813,734...88,856,966
Ensembl chr16:88,813,734...88,856,970
JBrowse link
G GLB1 galactosidase beta 1 IAGP OMIM:253010 HPO NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
Epiphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSB arylsulfatase B IAGP OMIM:253200 HPO NCBI chr 5:78,777,209...78,986,087
Ensembl chr 5:78,777,209...78,986,087
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP OMIM:271640 OMIM:615349 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 OMIM:617719 HPO NCBI chr17:78,991,716...79,009,793
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP OMIM:614732 HPO NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ORPHA:250984 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 OMIM:184840 OMIM:215150 ORPHA:1427 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 OMIM:132450 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP OMIM:614134 ORPHA:250984 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 OMIM:600204 ORPHA:250984 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 OMIM:600969 ORPHA:250984 HPO NCBI chr20:62,817,050...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP OMIM:132400 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ORPHA:1675 HPO NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
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 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP OMIM:617425 HPO NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,755,599
JBrowse link
G FLNB filamin B IAGP OMIM:272460 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP OMIM:616854 HPO NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
JBrowse link
G KIF22 kinesin family member 22 IAGP ORPHA:93360 HPO NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,719...29,805,384
JBrowse link
G LOXL3 lysyl oxidase like 3 IAGP ORPHA:250984 HPO NCBI chr 2:74,532,258...74,555,719
Ensembl chr 2:74,532,258...74,555,690
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP OMIM:617809 HPO NCBI chr11:65,538,559...65,558,389
Ensembl chr11:65,538,559...65,558,930
JBrowse link
G MATN3 matrilin 3 IAGP OMIM:607078 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP OMIM:615923 HPO NCBI chr 9:35,782,086...35,809,731
Ensembl chr 9:35,791,591...35,809,732
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 RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP ORPHA:1824 ORPHA:353298 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP OMIM:226900 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G TMEM165 transmembrane protein 165 IAGP OMIM:614727 HPO NCBI chr 4:55,395,653...55,453,397
Ensembl chr 4:55,395,957...55,453,397
JBrowse link
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
G XYLT1 xylosyltransferase 1 IAGP OMIM:615777 HPO NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
Epiphyseal stippling term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPS alkylglycerone phosphate synthase IAGP OMIM:600121 HPO NCBI chr 2:177,392,773...177,543,834
Ensembl chr 2:177,392,746...177,567,024
JBrowse link
G ARSL arylsulfatase L IAGP OMIM:302950 HPO NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP OMIM:271665 HPO NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP OMIM:270400 HPO NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP OMIM:302960 HPO NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP OMIM:277450 HPO NCBI chr 2:85,544,720...85,561,527
Ensembl chr 2:85,544,720...85,561,547
JBrowse link
G GUSB glucuronidase beta IAGP ORPHA:584 HPO NCBI chr 7:65,960,684...65,982,230
Ensembl chr 7:65,960,684...65,982,215
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 MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MGP matrix Gla protein IAGP OMIM:245150 HPO NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G NEU1 neuraminidase 1 IAGP OMIM:256550 HPO NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP OMIM:308050 HPO NCBI chr  X:152,831,001...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G PDE4D phosphodiesterase 4D IAGP ORPHA:950 HPO NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP OMIM:214100 OMIM:601539 ORPHA:912 HPO NCBI chr 7:92,487,023...92,528,520
Ensembl chr 7:92,487,020...92,528,520
JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP OMIM:614870 ORPHA:912 HPO NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP ORPHA:912 HPO NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP OMIM:614859 ORPHA:912 HPO NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP ORPHA:912 HPO NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP ORPHA:912 HPO NCBI chr 1:10,474,946...10,630,758
Ensembl chr 1:10,472,288...10,630,758
JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP OMIM:614876 ORPHA:912 HPO NCBI chr11:45,909,663...45,917,877
Ensembl chr11:45,909,663...45,918,812
JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP ORPHA:912 HPO NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP OMIM:614866 ORPHA:912 HPO NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP OMIM:614872 ORPHA:912 HPO NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP OMIM:614882 ORPHA:912 HPO NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP ORPHA:912 HPO NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP OMIM:614862 ORPHA:912 HPO NCBI chr 6:42,963,865...42,980,224
Ensembl chr 6:42,963,865...42,979,181
JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP OMIM:215100 HPO NCBI chr 6:136,821,683...136,913,934
Ensembl chr 6:136,822,564...136,913,934
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP OMIM:101800 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G THRB thyroid hormone receptor beta IAGP OMIM:274300 HPO NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756
JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP OMIM:619135 HPO NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
JBrowse link
Epiphyseal stippling of the humerus term browser
Symbol Object Name 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
Epiphyseal stippling of toe phalanges term browser
Symbol Object Name 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
Flat capital femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP OMIM:608361 HPO NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
JBrowse link
G CCN6 cellular communication network factor 6 IAGP ORPHA:1159 HPO NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 OMIM:609162 ORPHA:166011 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP OMIM:614134 OMIM:614135 HPO NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP OMIM:252605 HPO NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737
JBrowse link
G KIF22 kinesin family member 22 IAGP OMIM:603546 ORPHA:93360 HPO NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,719...29,805,384
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP OMIM:226900 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 OMIM:612350 ORPHA:157965 HPO NCBI chr11:47,407,132...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
G TBX4 T-box transcription factor 4 IAGP OMIM:147891 HPO NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
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 TRPS1 transcriptional repressor GATA binding 1 IAGP OMIM:190350 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP OMIM:142669 HPO NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
JBrowse link
Flat distal femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A1 collagen type IX alpha 1 chain IAGP OMIM:614135 HPO NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
Flattened epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP OMIM:300232 HPO NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP OMIM:251450 HPO NCBI chr17:78,991,716...79,009,793
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G CCN6 cellular communication network factor 6 IAGP OMIM:208230 HPO NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP OMIM:143095 HPO NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:1856 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP OMIM:600204 HPO NCBI chr 1:40,300,487...40,317,653
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G IFT122 intraflagellar transport 122 IAGP OMIM:218330 HPO NCBI chr 3:129,440,075...129,520,507
Ensembl chr 3:129,440,036...129,520,507
JBrowse link
G MIR140 microRNA 140 IAGP ORPHA:163649 HPO NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180
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 PTH1R parathyroid hormone 1 receptor IAGP OMIM:600002 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP OMIM:615222 HPO NCBI chr 4:139,453,232...139,476,609
Ensembl chr 4:139,453,232...139,476,609
JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP OMIM:618363 HPO NCBI chr 4:146,253,981...146,522,351
Ensembl chr 4:146,253,975...146,521,964
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP OMIM:222600 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
Flattened femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:93307 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ORPHA:93314 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Flattened humeral epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Flattened knee epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A2 collagen type IX alpha 2 chain IAGP OMIM:600204 HPO NCBI chr 1:40,300,487...40,317,653
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
Flattened radial epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:93307 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
Flattened, squared-off epiphyses of tubular bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:156550 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Fragmentation of the metacarpal epiphyses term browser
Symbol Object Name 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
Fragmented epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP OMIM:177170 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G KIF22 kinesin family member 22 IAGP ORPHA:93360 HPO NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,719...29,805,384
JBrowse link
Fragmented, irregular epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP OMIM:177170 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
Hypoplasia of the capital femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP OMIM:231050 HPO NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP OMIM:617719 HPO NCBI chr17:78,991,716...79,009,793
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G CDC6 cell division cycle 6 IAGP OMIM:613805 HPO NCBI chr17:40,287,878...40,304,657
Ensembl chr17:40,287,879...40,304,657
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP OMIM:143095 HPO NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:85166 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP ORPHA:750 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
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 EXTL3 exostosin like glycosyltransferase 3 IAGP OMIM:617425 HPO NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,755,599
JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP OMIM:619194 HPO NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
JBrowse link
G IFT140 intraflagellar transport 140 IAGP OMIM:266920 HPO NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G KIF22 kinesin family member 22 IAGP OMIM:603546 HPO NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,719...29,805,384
JBrowse link
G MATN3 matrilin 3 IAGP OMIM:607078 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP ORPHA:557003 HPO NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,983
JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP OMIM:612394 HPO NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420
JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP OMIM:242900 HPO NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,414...216,483,053
JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP OMIM:313400 HPO NCBI chr  X:13,712,243...13,734,633
Ensembl chr  X:13,712,244...13,734,635
JBrowse link
Hypoplastic distal radial epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIH1 interferon induced with helicase C domain 1 IAGP OMIM:182250 HPO NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
Irregular capital femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP OMIM:231050 HPO NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP OMIM:614134 HPO NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP OMIM:616716 HPO NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP ORPHA:353298 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP OMIM:142669 HPO NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
JBrowse link
Irregular distal femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:154780 HPO NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP OMIM:614135 HPO NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
Irregular epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP OMIM:612813 HPO NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP ORPHA:263463 HPO NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:1856 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP OMIM:600204 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 OMIM:600969 HPO NCBI chr20:62,817,050...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP OMIM:132400 OMIM:177170 ORPHA:750 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G DYM dymeclin IAGP OMIM:607326 HPO NCBI chr18:49,036,387...49,460,709
Ensembl chr18:49,036,387...49,461,347
JBrowse link
G KIF22 kinesin family member 22 IAGP OMIM:603546 HPO NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,719...29,805,384
JBrowse link
G MATN3 matrilin 3 IAGP OMIM:607078 OMIM:608728 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
G NANS N-acetylneuraminate synthase IAGP OMIM:610442 HPO NCBI chr 9:98,056,728...98,083,083
Ensembl chr 9:98,056,732...98,083,077
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP OMIM:619260 HPO NCBI chr 1:9,942,923...9,996,884
Ensembl chr 1:9,943,428...9,985,501
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP OMIM:226960 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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 SLC26A2 solute carrier family 26 member 2 IAGP OMIM:222600 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP OMIM:313400 HPO NCBI chr  X:13,712,243...13,734,633
Ensembl chr  X:13,712,244...13,734,635
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP OMIM:184260 HPO NCBI chr14:91,965,991...92,040,134
Ensembl chr14:91,965,991...92,040,896
JBrowse link
Irregular femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC6 cell division cycle 6 IAGP OMIM:613805 HPO NCBI chr17:40,287,878...40,304,657
Ensembl chr17:40,287,879...40,304,657
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:108300 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP OMIM:616651 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G RPL13 ribosomal protein L13 IAGP OMIM:618728 HPO NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,677...89,564,542
JBrowse link
Irregular proximal tibial epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:154780 HPO NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
Ivory epiphyses term browser
Symbol Object Name 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 PCNT pericentrin IAGP OMIM:210720 HPO NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP ORPHA:85167 HPO NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
JBrowse link
Ivory epiphyses of the distal phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPS1 transcriptional repressor GATA binding 1 IAGP OMIM:190350 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
Ivory epiphyses of the phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP OMIM:133540 HPO NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP OMIM:216400 HPO NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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
Ivory epiphyses of the toes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
Multicentric ossification of proximal femoral epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYM dymeclin IAGP OMIM:223800 HPO NCBI chr18:49,036,387...49,460,709
Ensembl chr18:49,036,387...49,461,347
JBrowse link
Multicentric ossification of proximal humeral epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYM dymeclin IAGP OMIM:223800 HPO NCBI chr18:49,036,387...49,460,709
Ensembl chr18:49,036,387...49,461,347
JBrowse link
Multinucleated giant chondrocytes in epiphyseal cartilage term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP OMIM:108720 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
Neonatal epiphyseal stippling term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP OMIM:101800 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
Premature fusion of phalangeal epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGP matrix Gla protein IAGP OMIM:245150 HPO NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
Prominent styloid process of ulna term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
JBrowse link
Proximal femoral epiphysiolysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 PCNT pericentrin IAGP OMIM:210720 HPO NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
JBrowse link
G RET ret proto-oncogene IAGP OMIM:162300 HPO NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP ORPHA:457395 HPO NCBI chr16:57,186,137...57,240,473
Ensembl chr16:57,186,137...57,240,469
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 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
Pseudoepiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA13 homeobox A13 IAGP OMIM:140000 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP OMIM:157800 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP OMIM:600002 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
Pseudoepiphyses of hand bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX3-2 NK3 homeobox 2 IAGP OMIM:613330 HPO NCBI chr 4:13,540,830...13,544,508
Ensembl chr 4:13,540,830...13,544,508
JBrowse link
Pseudoepiphyses of second metacarpal term browser
Symbol Object Name 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
Pseudoepiphyses of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:93384 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 ORPHA:93384 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Pseudoepiphyses of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Pseudoepiphyses of the metacarpals term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 IAGP OMIM:194190 HPO NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP OMIM:194190 HPO NCBI chr 4:1,211,444...1,250,355
Ensembl chr 4:1,211,445...1,249,953
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP OMIM:194190 HPO NCBI chr 4:1,009,930...1,026,898
Ensembl chr 4:1,009,936...1,026,898
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP OMIM:194190 HPO NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP OMIM:194190 HPO NCBI chr 4:1,871,393...1,982,207
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PCNT pericentrin IAGP OMIM:210720 HPO NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
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
Pseudoepiphyses of the proximal phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB23 RAB23, member RAS oncogene family IAGP OMIM:201000 HPO NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
Pseudoepiphysis of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP OMIM:611816 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
Small distal femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:154780 HPO NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
Small epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP OMIM:300232 HPO NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP OMIM:143095 ORPHA:263463 HPO NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:93346 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP OMIM:614135 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 OMIM:600204 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 OMIM:600969 HPO NCBI chr20:62,817,050...62,841,159
Ensembl chr20:62,816,244...62,841,159
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 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G KIF22 kinesin family member 22 IAGP OMIM:603546 HPO NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,719...29,805,384
JBrowse link
G MATN3 matrilin 3 IAGP OMIM:607078 OMIM:608728 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
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 NANS N-acetylneuraminate synthase IAGP OMIM:610442 HPO NCBI chr 9:98,056,728...98,083,083
Ensembl chr 9:98,056,732...98,083,077
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP OMIM:607095 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 OMIM:226960 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP ORPHA:457395 HPO NCBI chr16:57,186,137...57,240,473
Ensembl chr16:57,186,137...57,240,469
JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP OMIM:618363 HPO NCBI chr 4:146,253,981...146,522,351
Ensembl chr 4:146,253,975...146,521,964
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 OMIM:184260 HPO NCBI chr14:91,965,991...92,040,134
Ensembl chr14:91,965,991...92,040,896
JBrowse link
Small epiphyses of the phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP OMIM:177170 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
Small proximal tibial epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:154780 HPO NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
Splayed epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:156550 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Stippled calcification proximal humeral epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPAT glyceronephosphate O-acyltransferase IAGP OMIM:222765 HPO NCBI chr 1:231,241,210...231,277,973
Ensembl chr 1:231,241,207...231,277,973
JBrowse link
Stippling of the epiphyses of the distal phalanges of the hand term browser
Symbol Object Name 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
Stippling of the epiphysis of the distal phalanx of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:93384 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:93384 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Thin proximal phalanges with broad epiphyses of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Triangular epiphysis of the middle phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Triangular epiphysis of the middle phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Triangular epiphysis of the proximal phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Triangular epiphysis of the proximal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Wide capital femoral epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ORPHA:1830 HPO NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,414...216,483,053
JBrowse link
G TBX4 T-box transcription factor 4 IAGP OMIM:147891 HPO NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13461
    Phenotypic abnormality 13458
      Abnormality of the musculoskeletal system 3905
        Abnormality of the skeletal system 3210
          Abnormality of skeletal morphology 3095
            Abnormal appendicular skeleton morphology 1768
              Abnormality of long bone morphology 727
                Abnormality of epiphysis morphology 264
                  Abnormality of limb epiphysis morphology + 125
                  Abnormality of vertebral epiphysis morphology 1
                  Absent epiphyses + 23
                  Bracket epiphyses + 0
                  Cone-shaped epiphysis + 74
                  Delayed epiphyseal ossification + 36
                  Enlarged epiphyses + 14
                  Epiphyseal deformities of tubular bones + 3
                  Epiphyseal dysplasia 28
                  Epiphyseal stippling + 36
                  Epiphyseal streaking 0
                  Flattened epiphysis + 24
                  Fragmented epiphyses + 5
                  Irregular epiphyses + 23
                  Ivory epiphyses + 8
                  Multinucleated giant chondrocytes in epiphyseal cartilage 1
                  Premature epimetaphyseal fusion + 0
                  Pseudoepiphyses + 16
                  Small epiphyses + 22
                  Splayed epiphyses 1
                  Triangular epiphyses + 1
paths to the root