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Metaphyseal irregularity - Ontology Report - Rat Genome Database

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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:Metaphyseal irregularity
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Accession:HP:0003025 term browser browse the term
Definition:Irregularity of the normally smooth surface of the metaphyses.
Synonyms:exact_synonym: Frayed, irregular metaphyses;   Irregular metaphyses;   Irregular wide portion of a long bone;   Metaphyseal fraying;   Metaphyseal irregularities
 alt_id: HP:0003017;   HP:0004995;   HP:0005016;   HP:0005032;   HP:0005038;   HP:0005058;   HP:0005062;   HP:0005065;   HP:0005078;   HP:0005896
 xref: UMLS:C1838662


 Loading Annotations... 
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Metaphyseal irregularity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO MIM:607944 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
JBrowse link
G ARSB arylsulfatase B IAGP HPO MIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087
JBrowse link
G ASCC3 activating signal cointegrator 1 complex subunit 3 IAGP HPO MIM:620700 NCBI chr 6:100,508,194...100,881,329
Ensembl chr 6:100,508,194...100,881,372
JBrowse link
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 CASR calcium sensing receptor IAGP HPO MIM:239200 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
JBrowse link
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 COL10A1 collagen type X alpha 1 chain IAGP HPO MIM:156500 ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:151210 MIM:184250 MIM:184255 ORPHA:93315 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 HPO MIM:177170 ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO MIM:264700 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 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 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
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 EFL1 elongation factor like GTPase 1 IAGP HPO MIM:617941 ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
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 FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:187600 MIM:187601 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FN1 fibronectin 1 IAGP HPO MIM:184255 ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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 IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G KIF22 kinesin family member 22 IAGP HPO MIM:603546 ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
JBrowse link
G LBR lamin B receptor IAGP HPO MIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LPIN2 lipin 2 IAGP HPO ORPHA:77297 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
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 MMP13 matrix metallopeptidase 13 IAGP HPO ORPHA:93356 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MMP9 matrix metallopeptidase 9 IAGP HPO MIM:613073 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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 NEK1 NIMA related kinase 1 IAGP HPO MIM:252100 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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 PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO MIM:608940 ORPHA:85167 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO MIM:616716 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO MIM:307800 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713
JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO MIM:619636 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:79106 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G QRICH1 glutamine rich 1 IAGP HPO MIM:617982 NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363
JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO MIM:615222 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO MIM:250460 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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
G SLC17A5 solute carrier family 17 member 5 IAGP HPO MIM:269920 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992
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 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 TONSL tonsoku like, DNA repair protein IAGP HPO MIM:271510 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 MIM:156530 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
Distal femoral metaphyseal irregularity term browser
Symbol Object Name 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
Fibular metaphyseal irregularity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469
JBrowse link
Irregular, rachitic-like metaphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO 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 ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
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
Lower-limb metaphyseal irregularity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL13 ribosomal protein L13 IAGP HPO MIM:618728 NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,677...89,567,834
JBrowse link
Proximal femoral metaphyseal irregularity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP410 cilia and flagella associated protein 410 IAGP HPO MIM:602271 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402
JBrowse link
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
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 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 KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
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
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:113500 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Radial metaphyseal irregularity term browser
Symbol Object Name 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
G COMP cartilage oligomeric matrix protein IAGP HPO MIM:177170 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
Tibial metaphyseal irregularity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469
JBrowse link
Ulnar metaphyseal irregularity term browser
Symbol Object Name 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
G COMP cartilage oligomeric matrix protein IAGP HPO MIM:177170 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
Upper-limb metaphyseal irregularity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL13 ribosomal protein L13 IAGP HPO MIM:618728 NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,677...89,567,834
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 82305
    Phenotypic abnormality 81987
      Abnormality of limbs 3162
        Abnormality of limb bone 1981
          Abnormal limb bone morphology 1981
            Abnormal metaphysis morphology 238
              Metaphyseal irregularity 52
                Irregular, rachitic-like metaphyses 3
                Lower-limb metaphyseal irregularity + 10
                Upper-limb metaphyseal irregularity + 3
Path 2
Term Annotations click to browse term
  Human phenotype 82305
    Phenotypic abnormality 81987
      Abnormality of the musculoskeletal system 11065
        Abnormality of the skeletal system 9860
          Abnormal skeletal morphology 9342
            Abnormal appendicular skeleton morphology 2152
              Abnormal limb bone morphology 1981
                Abnormal metaphysis morphology 238
                  Metaphyseal irregularity 52
                    Irregular, rachitic-like metaphyses 3
                    Lower-limb metaphyseal irregularity + 10
                    Upper-limb metaphyseal irregularity + 3
paths to the root