Term: | Metaphyseal irregularity |
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Accession: | HP:0003025
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browse the term
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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 |
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Symbol |
Object Name |
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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ACP5 |
acid phosphatase 5, tartrate resistant |
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IAGP |
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HPO |
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MIM:607944 |
NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
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ARSB |
arylsulfatase B |
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IAGP |
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HPO |
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MIM:253200 |
NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087
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ASCC3 |
activating signal cointegrator 1 complex subunit 3 |
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IAGP |
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HPO |
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MIM:620700 |
NCBI chr 6:100,508,194...100,881,329
Ensembl chr 6:100,508,194...100,881,372
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G |
BGN |
biglycan |
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IAGP |
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HPO |
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MIM:300106 |
NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546
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CASR |
calcium sensing receptor |
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IAGP |
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HPO |
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MIM:239200 |
NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
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CLCN5 |
chloride voltage-gated channel 5 |
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IAGP |
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HPO |
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MIM:300009 MIM:300554 |
NCBI chr X:49,922,596...50,099,230
Ensembl chr X:49,922,596...50,099,235
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COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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MIM:156500 ORPHA:174 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:151210 MIM:184250 MIM:184255 ORPHA:93315 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COMP |
cartilage oligomeric matrix protein |
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IAGP |
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HPO |
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MIM:177170 ORPHA:750 |
NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
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G |
CYP27B1 |
cytochrome P450 family 27 subfamily B member 1 |
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IAGP |
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HPO |
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MIM:264700 |
NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
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CYP2R1 |
cytochrome P450 family 2 subfamily R member 1 |
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IAGP |
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HPO |
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MIM:600081 |
NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
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DDRGK1 |
DDRGK domain containing 1 |
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IAGP |
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HPO |
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MIM:602557 ORPHA:93352 |
NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685
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DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
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DYM |
dymeclin |
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IAGP |
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HPO |
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MIM:607326 |
NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347
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EFL1 |
elongation factor like GTPase 1 |
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IAGP |
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HPO |
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MIM:617941 ORPHA:811 |
NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
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EXOC6B |
exocyst complex component 6B |
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IAGP |
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HPO |
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MIM:618395 |
NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041
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FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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MIM:187600 MIM:187601 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FN1 |
fibronectin 1 |
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IAGP |
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HPO |
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MIM:184255 ORPHA:93315 |
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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GPX4 |
glutathione peroxidase 4 |
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IAGP |
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HPO |
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MIM:250220 |
NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791
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IARS2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:616007 |
NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041
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IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
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HPO |
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ORPHA:99646 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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KIF22 |
kinesin family member 22 |
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IAGP |
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HPO |
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MIM:603546 ORPHA:93360 |
NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
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LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:618019 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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LPIN2 |
lipin 2 |
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IAGP |
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HPO |
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ORPHA:77297 |
NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
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MATN3 |
matrilin 3 |
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IAGP |
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HPO |
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MIM:607078 |
NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
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MMP13 |
matrix metallopeptidase 13 |
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IAGP |
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HPO |
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ORPHA:93356 |
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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MMP9 |
matrix metallopeptidase 9 |
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IAGP |
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HPO |
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MIM:613073 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NANS |
N-acetylneuraminate synthase |
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IAGP |
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HPO |
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MIM:610442 |
NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077
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NEK1 |
NIMA related kinase 1 |
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IAGP |
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HPO |
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MIM:252100 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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NKX3-2 |
NK3 homeobox 2 |
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IAGP |
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HPO |
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MIM:613330 |
NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508
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PCYT1A |
phosphate cytidylyltransferase 1A, choline |
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IAGP |
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HPO |
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MIM:608940 ORPHA:85167 |
NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
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PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
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HPO |
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MIM:616716 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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PHEX |
phosphate regulating endopeptidase X-linked |
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IAGP |
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HPO |
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MIM:307800 |
NCBI chr X:22,032,325...22,251,310
Ensembl chr X:22,032,325...22,494,713
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PRKG2 |
protein kinase cGMP-dependent 2 |
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IAGP |
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HPO |
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MIM:619636 |
NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
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PTH1R |
parathyroid hormone 1 receptor |
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IAGP |
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HPO |
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ORPHA:79106 |
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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QRICH1 |
glutamine rich 1 |
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IAGP |
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HPO |
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MIM:617982 |
NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363
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RAB33B |
RAB33B, member RAS oncogene family |
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IAGP |
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HPO |
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MIM:615222 |
NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609
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RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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MIM:250460 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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SBDS |
SBDS ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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G |
SIK3 |
SIK family kinase 3 |
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IAGP |
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HPO |
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MIM:618162 |
NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437
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G |
SLC17A5 |
solute carrier family 17 member 5 |
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IAGP |
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HPO |
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MIM:269920 |
NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992
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SLC34A3 |
solute carrier family 34 member 3 |
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IAGP |
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HPO |
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MIM:241530 |
NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555
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G |
SLC35D1 |
solute carrier family 35 member D1 |
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IAGP |
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HPO |
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MIM:269250 |
NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148
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G |
TONSL |
tonsoku like, DNA repair protein |
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IAGP |
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HPO |
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MIM:271510 ORPHA:93357 |
NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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MIM:156530 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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VDR |
vitamin D receptor |
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IAGP |
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HPO |
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MIM:277440 |
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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Symbol |
Object Name |
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G |
COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:174 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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Symbol |
Object Name |
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G |
RSPRY1 |
ring finger and SPRY domain containing 1 |
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IAGP |
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HPO |
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ORPHA:457395 |
NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469
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Symbol |
Object Name |
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G |
CYP27B1 |
cytochrome P450 family 27 subfamily B member 1 |
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IAGP |
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HPO |
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ORPHA:289157 |
NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
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G |
CYP2R1 |
cytochrome P450 family 2 subfamily R member 1 |
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IAGP |
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HPO |
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ORPHA:289157 |
NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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MIM:184252 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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Symbol |
Object Name |
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G |
RPL13 |
ribosomal protein L13 |
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IAGP |
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HPO |
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MIM:618728 |
NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,677...89,567,834
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Symbol |
Object Name |
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G |
CFAP410 |
cilia and flagella associated protein 410 |
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IAGP |
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HPO |
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MIM:602271 |
NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402
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G |
COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:174 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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G |
CSPP1 |
centrosome and spindle pole associated protein 1 |
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IAGP |
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HPO |
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ORPHA:397715 |
NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
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G |
DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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IAGP |
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HPO |
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MIM:260400 |
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
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G |
KIAA0586 |
KIAA0586 |
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IAGP |
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HPO |
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ORPHA:397715 |
NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
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G |
SBDS |
SBDS ribosome maturation factor |
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IAGP |
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HPO |
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MIM:260400 |
NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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G |
SRP54 |
signal recognition particle 54 |
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IAGP |
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HPO |
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MIM:260400 |
NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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MIM:113500 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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Symbol |
Object Name |
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G |
COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:174 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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G |
COMP |
cartilage oligomeric matrix protein |
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IAGP |
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HPO |
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MIM:177170 |
NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
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Symbol |
Object Name |
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G |
RSPRY1 |
ring finger and SPRY domain containing 1 |
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IAGP |
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HPO |
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ORPHA:457395 |
NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469
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Symbol |
Object Name |
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G |
COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:174 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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G |
COMP |
cartilage oligomeric matrix protein |
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IAGP |
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HPO |
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MIM:177170 |
NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
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Symbol |
Object Name |
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G |
RPL13 |
ribosomal protein L13 |
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IAGP |
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HPO |
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MIM:618728 |
NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,677...89,567,834
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Term paths to the root
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