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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 lower limb epiphysis morphology
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Accession:HP:0006500 term browser browse the term
Definition:An anomaly of one or more epiphyses of one or both legs.
Synonyms:exact_synonym: Abnormal shape of end part of lower limb end bone;   Abnormality involving the epiphyses of the lower limbs
 xref: UMLS:C4021595



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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 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 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ORPHA:166002 HPO NCBI chr20:62,816,213...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 7:105,532,201...105,567,677
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 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
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 6:33,162,694...33,193,137
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:77,910,690...78,050,395
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ORPHA:1899 HPO NCBI chr17:50,184,101...50,201,631
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: Avascular necrosis of the capital femoral epiphysis
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...3,880,713
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 2:215,360,865...215,436,068
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 chr17:1,494,577...1,516,612
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 chr20:46,708,320...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...144,444,440
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...55,505,263
Ensembl chr 3:55,465,715...55,490,539
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
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 chr15:45,114,326...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...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G IYD iodotyrosine deiodinase IAGP ORPHA:95716 HPO NCBI chr 6:150,369,012...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 1:180,228,375...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 chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174
JBrowse link
G TG thyroglobulin IAGP ORPHA:95716 HPO NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903
JBrowse link
G TPO thyroid peroxidase IAGP ORPHA:95716 HPO NCBI chr 2:1,374,047...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...115,034,309
Ensembl chr 1:115,029,826...115,034,302
JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP ORPHA:90673 HPO NCBI chr14:80,955,621...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 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G KIAA0586 KIAA0586 IAGP ORPHA:397715 HPO NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
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...116,217,129
Ensembl chr 6:116,118,909...116,158,747
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 chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
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 chr11:47,407,276...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...144,444,440
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
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...79,009,764
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G CDC6 cell division cycle 6 IAGP OMIM:613805 HPO NCBI chr17:40,287,879...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...72,013,558
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...49,460,645
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...28,756,561
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 chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
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...17,207,986
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:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
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 TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:184252 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
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...103,108,522
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 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 chr17:40,287,879...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...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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...88,628,145
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...49,460,645
Ensembl chr18:49,036,387...49,461,347
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 5:34,929,559...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 chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
JBrowse link
G PCNT pericentrin IAGP OMIM:210720 HPO NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
JBrowse link
G 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 chr16:57,186,152...57,240,469
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...66,995,586
JBrowse link
G SRP54 signal recognition particle 54 IAGP ORPHA:811 HPO NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686
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...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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...103,108,522
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
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 14724
    Phenotypic abnormality 14721
      Abnormality of limbs 2350
        Abnormality of the lower limb 1734
          Abnormality of lower limb epiphysis morphology 87
            Abnormality of femoral epiphysis + 80
            Abnormality of fibular epiphyses + 0
            Abnormality of the epiphyses of the feet + 6
            Abnormality of tibial epiphyses + 5
Path 2
Term Annotations click to browse term
  Human phenotype 14724
    Phenotypic abnormality 14721
      Abnormality of the musculoskeletal system 4009
        Abnormality of the skeletal system 3324
          Abnormal skeletal morphology 3203
            Abnormal appendicular skeleton morphology 1819
              Abnormality of long bone morphology 756
                Abnormality of epiphysis morphology 268
                  Abnormality of limb epiphysis morphology 126
                    Abnormality of lower limb epiphysis morphology 87
                      Abnormality of femoral epiphysis + 80
                      Abnormality of fibular epiphyses + 0
                      Abnormality of the epiphyses of the feet + 6
                      Abnormality of tibial epiphyses + 5
paths to the root