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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:Abnormal enchondral ossification
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Accession:HP:0003336 term browser browse the term
Definition:An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.
Comment:This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy.
Synonyms:alt_id: HP:0003331
 xref: UMLS:C4025628


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Abnormal enchondral ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93298 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO ORPHA:93299 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:156530 ORPHA:2635 ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Abnormal calcification of the carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
Abnormal epiphyseal ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
Abnormal foot bone ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO MIM:300244 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO MIM:200600 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
Abnormal hand bone ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO MIM:300244 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO MIM:200600 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
Abnormal ossification involving the femoral head and neck term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G FLNB filamin B IAGP HPO ORPHA:1190 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO ORPHA:2114 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
Abnormal pelvis bone ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:93271 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 HPO ORPHA:93271 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:93271 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:93271 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G LBR lamin B receptor IAGP HPO ORPHA:1426 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:93271 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
Abnormal sternal ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 IAGP HPO MIM:194190 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:194190 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO MIM:194190 NCBI chr 4:1,010,212...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 HPO MIM:194190 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 HPO MIM:194190 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
Abnormally ossified vertebrae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain IAGP HPO ORPHA:1427 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93346 ORPHA:94068 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO ORPHA:35173 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity IAGP DNA:deletion:intron:IVS20-11delT RGD PMID:15834329 RGD:13204732 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G FLNB filamin B IAGP HPO ORPHA:1263 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:2746 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G LBR lamin B receptor IAGP HPO ORPHA:1426 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:2636 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO ORPHA:3301 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO ORPHA:3301 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G WNT3 Wnt family member 3 IAGP HPO ORPHA:3301 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
Absent in utero ossification of vertebral bodies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPER BMP binding endothelial regulator IAGP HPO MIM:608022 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
Absent in utero rib ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPER BMP binding endothelial regulator IAGP HPO MIM:608022 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
Absent or minimally ossified vertebral bodies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPER BMP binding endothelial regulator IAGP HPO ORPHA:66637 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:93271 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 HPO ORPHA:93271 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:93271 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G FLNB filamin B IAGP HPO ORPHA:1190 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:93271 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO MIM:600972 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:93271 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
Absent sternal ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO MIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO MIM:613803 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO MIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
Absent vertebral body mineralization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Absent vertebral body mineralization ClinVar
HPO		 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... MIM:200610 ORPHA:93296 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
Advanced ossification of carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO MIM:271640 MIM:615349 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 HPO MIM:251450 MIM:617719 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO MIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO MIM:614613 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:215045 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO MIM:616831 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO MIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO MIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO MIM:269250 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO MIM:615777 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Advanced tarsal ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CANT1 calcium activated nucleotidase 1 IAGP HPO MIM:251450 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:3144 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:215045 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO MIM:269250 ORPHA:3144 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148 		JBrowse link
Anterior rib punctate calcifications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase IAGP HPO ORPHA:35173 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 ORPHA:1426 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
Calcaneal epiphyseal stippling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 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 HPO MIM:117650 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
Calcific stippling of infantile cartilaginous skeleton term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO MIM:215100 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
Costal cartilage calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO MIM:222600 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Delayed calcaneal ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:183900 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
Delayed epiphyseal ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 IAGP HPO MIM:300009 MIM:300554 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:156550 ORPHA:485 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 HPO MIM:600969 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO MIM:132400 MIM:177170 ORPHA:750 ORPHA:93308 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 HPO ORPHA:91 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 HPO MIM:264700 ORPHA:289157 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 HPO MIM:600081 ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO MIM:602557 ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685 		JBrowse link
G ESR1 estrogen receptor 1 IAGP HPO ORPHA:785 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:101200 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO MIM:250220 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616007 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO MIM:258480 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:166024 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO MIM:600373 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		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 HPO MIM:618618 NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP HPO MIM:613320 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G PISD phosphatidylserine decarboxylase IAGP HPO MIM:618889 NCBI chr22:31,618,491...31,662,564
Ensembl chr22:31,618,491...31,662,221 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:600002 ORPHA:79106 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO MIM:241530 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO MIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G VDR vitamin D receptor IAGP HPO MIM:277440 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Delayed femoral head ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYM dymeclin IAGP HPO MIM:607326 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Delayed ossification of carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP HPO MIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G CBFB core-binding factor subunit beta IAGP HPO MIM:620099 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93346 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP HPO MIM:618395 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO MIM:617425 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO MIM:140000 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO MIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO MIM:600373 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G MATN3 matrilin 3 IAGP HPO MIM:607078 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G MBTPS1 membrane bound transcription factor peptidase, site 1 IAGP HPO MIM:618392 NCBI chr16:84,053,763...84,116,942
Ensembl chr16:84,053,761...84,116,942 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO MIM:239300 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:600002 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO MIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO MIM:271510 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO MIM:184260 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:184252 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 HPO MIM:617974 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
Delayed ossification of pubic rami term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G GSC goosecoid homeobox IAGP HPO MIM:602471 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
Delayed patellar ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO MIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
Delayed phalangeal epiphyseal ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO ORPHA:420561 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 HPO MIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
Delayed proximal femoral epiphyseal ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO MIM:271640 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 HPO ORPHA:93296 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DUOX2 dual oxidase 2 IAGP HPO ORPHA:95716 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 HPO ORPHA:95716 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 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 HPO ORPHA:95716 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 HPO ORPHA:226307 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 HPO ORPHA:226307 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 HPO ORPHA:93311 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 HPO ORPHA:226307 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 HPO ORPHA:226307 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 IAGP HPO ORPHA:353298 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 HPO ORPHA:95716 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G TG thyroglobulin IAGP HPO ORPHA:95716 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 HPO ORPHA:95716 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 HPO ORPHA:90674 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 HPO ORPHA:90673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Delayed pubic bone ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBFB core-binding factor subunit beta IAGP HPO MIM:620099 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:183900 MIM:184250 ORPHA:1856 ORPHA:93296 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO ORPHA:477 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO ORPHA:477 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP HPO MIM:613330 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SIK3 SIK family kinase 3 IAGP HPO MIM:618162 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437 		JBrowse link
Delayed tarsal ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA13 homeobox A13 IAGP HPO MIM:140000 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G MATN3 matrilin 3 IAGP HPO MIM:607078 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:600002 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
Delayed toe phalanx ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 IAGP HPO MIM:135100 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330 		JBrowse link
G FLNB filamin B IAGP HPO MIM:108720 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
Delayed vertebral ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPER BMP binding endothelial regulator IAGP HPO MIM:608022 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93296 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 HPO MIM:613330 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
Early ossification of capital femoral epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
Epiphyseal stippling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPS alkylglycerone phosphate synthase IAGP HPO MIM:600121 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 HPO MIM:302950 ORPHA:79345 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 HPO MIM:271665 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 HPO MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 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 HPO MIM:302960 ORPHA:35173 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 HPO MIM:277450 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO MIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973 		JBrowse link
G GUSB glucuronidase beta IAGP HPO ORPHA:584 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 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 HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO MIM:256550 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO MIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO ORPHA:950 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO MIM:214100 MIM:601539 ORPHA:912 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO MIM:614870 ORPHA:912 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 HPO ORPHA:912 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 HPO MIM:614859 ORPHA:912 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 HPO ORPHA:912 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 HPO ORPHA:912 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO MIM:614876 ORPHA:912 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO ORPHA:912 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 HPO MIM:614866 ORPHA:912 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 HPO MIM:614872 ORPHA:912 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 HPO MIM:614882 ORPHA:912 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 HPO ORPHA:912 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 HPO MIM:614862 ORPHA:912 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO MIM:215100 NCBI chr 6:136,822,592...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 HPO MIM:101800 ORPHA:950 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 HPO ORPHA:96334 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 HPO MIM:274300 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 HPO MIM:619135 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP HPO ORPHA:56305 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
Fused sternal ossification centers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD96 CD96 molecule IAGP HPO MIM:211750 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996 		JBrowse link
Incomplete ossification of pubis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:313855 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
Irregular ossification at anterior rib ends term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:260400 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO MIM:260400 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO MIM:260400 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
Irregular ossification of hand bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCH1 patched 1 IAGP HPO MIM:109400 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
Irregular tarsal ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO MIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
Large sternal ossification centers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFIX nuclear factor I X IAGP HPO MIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
Multicentric femoral head ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYM dymeclin IAGP HPO MIM:607326 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
Multicentric ossification of proximal femoral epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYM dymeclin IAGP HPO MIM:223800 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
Multicentric ossification of proximal humeral epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYM dymeclin IAGP HPO MIM:223800 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
Multiple carpal ossification centers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G FLNB filamin B IAGP HPO MIM:150250 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase IAGP HPO ORPHA:35173 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:101800 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
Nonossified fifth metatarsal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO MIM:304120 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
Osteosclerosis of ribs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL10A1 collagen type X alpha 1 chain IAGP HPO ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
Poorly ossified cervical vertebrae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX9 SRY-box transcription factor 9 IAGP HPO MIM:114290 ORPHA:140 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
Poorly ossified vertebrae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP HPO ORPHA:1263 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO MIM:619135 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
Popcorn calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:166220 MIM:259420 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 HPO MIM:166220 MIM:259420 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO MIM:112240 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
Premature fusion of phalangeal epiphyses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
Sclerotic foci within carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
Stippled calcification in carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748 		JBrowse link
Stippling of the epiphyses of the distal phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:93384 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:93384 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Supernumerary vertebral ossification centers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO MIM:609813 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
Tarsal stippling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
Two carpal ossification centers present at birth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC3 glypican 3 IAGP HPO MIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
Unossified vertebral bodies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO MIM:241500 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO MIM:200600 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the musculoskeletal system 14128
        Abnormality of the skeletal system 10240
          Abnormal skeletal morphology 9728
            Abnormal bone structure 1027
              Abnormal bone ossification 897
                Abnormal enchondral ossification 150
                  Abnormal epiphyseal ossification + 86
                  Abnormal foot bone ossification + 13
                  Abnormal hand bone ossification + 41
                  Abnormal humeral ossification + 2
                  Abnormal ossification involving the femoral head and neck + 25
                  Abnormal pelvis bone ossification + 17
                  Abnormal rib ossification + 9
                  Abnormal sternal ossification + 12
                  Abnormally ossified vertebrae + 28
                  Calcific stippling of infantile cartilaginous skeleton 1
                  Delayed patellar ossification 2
                  Irregular ossification of the radial metaphysis 0
paths to the root