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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:Irregular epiphyses
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Accession:HP:0010582 term browser browse the term
Definition:An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
Synonyms:exact_synonym: Irregular end part of long bone
 alt_id: HP:0002765;   HP:0003039;   HP:0005007;   HP:0005023;   HP:0005749;   HP:0010581
 xref: UMLS:C1846449


show annotations for term's descendants           Sort by:
Irregular epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO OMIM:612813 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO ORPHA:263463 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 HPO ORPHA:1856 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 HPO OMIM:614135 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 HPO OMIM:600204 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 HPO OMIM: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 OMIM:132400 OMIM:177170 ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G DYM dymeclin IAGP HPO OMIM:607326 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO OMIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G MATN3 matrilin 3 IAGP HPO OMIM:607078 OMIM:608728 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 HPO OMIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO OMIM:619260 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:226960 ORPHA:1824 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 HPO OMIM:618162 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO OMIM:222600 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 HPO OMIM:313400 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO OMIM:184260 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		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 HPO OMIM:177170 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		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 HPO OMIM:231050 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 HPO OMIM:614134 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 HPO OMIM:616716 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		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 TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM: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 OMIM:142669 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 HPO OMIM:154780 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 HPO OMIM:614135 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
Irregular epiphyses of the metacarpals term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO OMIM:614078 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		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 HPO OMIM:613805 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO OMIM:154780 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:108300 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 HPO OMIM:614134 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:616651 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 HPO OMIM:618728 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 HPO OMIM:154780 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Abnormal skeletal morphology 3532
            Abnormal appendicular skeleton morphology 1997
              Abnormal long bone morphology 794
                Abnormal epiphysis morphology 282
                  Irregular epiphyses 25
                    Fragmented, irregular epiphyses 1
                    Irregular epiphyses of the toes + 0
                    Irregular epiphyses of the upper limbs + 1
                    Irregular femoral epiphysis + 10
                    Irregular proximal tibial epiphyses 1
                    Irregular radial epiphyses 0
paths to the root