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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 epiphyseal ossification
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Accession:HP:0010656 term browser browse the term
Definition:An abnormality of the formation and mineralization of an epiphysis.
Synonyms:exact_synonym: Abnormality of the mineralisation or ossification of the epiphyses
 related_synonym: Abnormal maturation of the end part of a bone
 xref: UMLS:C4021246



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Abnormal epiphyseal ossification 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:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
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
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...50,099,230
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
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
G COL9A3 collagen type IX alpha 3 chain IAGP OMIM:600969 HPO 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 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...14,892,443
Ensembl chr11:14,877,440...14,892,231
JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP OMIM:602557 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 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101200 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G GPX4 glutathione peroxidase 4 IAGP OMIM:250220 HPO NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,994...1,106,791
JBrowse link
G KIF22 kinesin family member 22 IAGP ORPHA:93360 HPO 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 ORPHA:166024 HPO NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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...31,662,221
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP OMIM:600002 ORPHA:79106 HPO NCBI chr 3:46,877,721...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 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP OMIM:114290 HPO 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 ORPHA:93357 HPO 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 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...47,904,994
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 chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
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
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...85,561,493
Ensembl chr 2:85,544,720...85,561,532
JBrowse link
G GUSB glucuronidase beta IAGP ORPHA:584 HPO 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 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:152,831,063...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...60,522,128
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 7:92,487,025...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 1:10,474,950...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...45,918,822
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...42,979,181
Ensembl chr 6:42,963,865...42,979,181
JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP OMIM:215100 HPO NCBI chr 6:136,822,592...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 ORPHA:950 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
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...49,460,645
Ensembl chr18:49,036,387...49,461,347
JBrowse link
Neonatal epiphyseal stippling term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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
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...95,158,450
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

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14725
    Phenotypic abnormality 14722
      Abnormality of the musculoskeletal system 4009
        Abnormality of the skeletal system 3324
          Abnormal skeletal morphology 3203
            Abnormal bone structure 786
              Abnormal bone ossification 703
                Abnormal enchondral ossification 139
                  Abnormal epiphyseal ossification 78
                    Absent ossification of capital femoral epiphysis 0
                    Advanced ossification of the humeral epiphysis 0
                    Delayed epiphyseal ossification + 38
                    Early ossification of capital femoral epiphyses 2
                    Epiphyseal stippling + 36
                    Irregular ossification of the humeral epiphyses + 2
                    Premature fusion of phalangeal epiphyses 1
paths to the root