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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:Cone-shaped epiphysis
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Accession:HP:0010579 term browser browse the term
Definition:Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
Synonyms:exact_synonym: Cone-shaped end part of bone;   Cone-shaped epiphyses
 alt_id: HP:0000937;   HP:0006078
 xref: UMLS:C1865037


show annotations for term's descendants           Sort by:
 
Cone-shaped epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase IAGP ORPHA:808 HPO NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G ATRIP ATR interacting protein IAGP ORPHA:808 HPO NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:93384 ORPHA:93388 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G CENPE centromere protein E IAGP ORPHA:808 HPO NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445 		JBrowse link
G CENPJ centromere protein J IAGP ORPHA:808 HPO NCBI chr13:24,882,279...24,941,542
Ensembl chr13:24,882,279...24,922,889 		JBrowse link
G CEP120 centrosomal protein 120 IAGP ORPHA:474 HPO NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP152 centrosomal protein 152 IAGP ORPHA:808 HPO NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CEP164 centrosomal protein 164 IAGP ORPHA:3156 HPO NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,266 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ORPHA:3156 HPO NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP ORPHA:750 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
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 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP OMIM:613091 ORPHA:474 HPO 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 ORPHA:474 HPO 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 ORPHA:474 HPO NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ORPHA:474 HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:102370 OMIM:614185 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP ORPHA:3237 HPO NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:53271 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:3237 ORPHA:93384 ORPHA:93388 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP ORPHA:93317 HPO NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,994...1,106,791 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP OMIM:266920 ORPHA:474 HPO NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP ORPHA:474 HPO NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP ORPHA:474 HPO NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP ORPHA:93388 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G INVS inversin IAGP ORPHA:3156 HPO NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175 		JBrowse link
G IQCB1 IQ motif containing B1 IAGP ORPHA:3156 HPO NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		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
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP OMIM:613328 HPO NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP OMIM:157800 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072 		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 NOG noggin IAGP ORPHA:3237 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NPHP1 nephrocystin 1 IAGP ORPHA:3156 HPO NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPHP3 nephrocystin 3 IAGP ORPHA:3156 HPO NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP4 nephrocystin 4 IAGP ORPHA:3156 HPO NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP OMIM:617253 HPO NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,120 		JBrowse link
G NUP85 nucleoporin 85 IAGP ORPHA:808 HPO NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ORPHA:2750 HPO NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PCNT pericentrin IAGP OMIM:210720 ORPHA:808 HPO NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PDE3A phosphodiesterase 3A IAGP OMIM:112410 HPO NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP OMIM:614613 ORPHA:280651 ORPHA:439822 ORPHA:950 HPO NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP OMIM:613328 HPO NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,651,731...9,729,114 		JBrowse link
G PLK4 polo like kinase 4 IAGP ORPHA:808 HPO NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G POC1A POC1 centriolar protein A IAGP OMIM:614813 HPO NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:280651 ORPHA:950 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP ORPHA:808 HPO NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP ORPHA:457395 HPO NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP ORPHA:3156 HPO NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SHOX short stature homeobox IAGP ORPHA:240 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SMAD4 SMAD family member 4 IAGP OMIM:139210 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP ORPHA:3156 HPO NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897 		JBrowse link
G TRAIP TRAF interacting protein IAGP ORPHA:808 HPO NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP ORPHA:166272 HPO NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ORPHA:77258 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:156530 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ORPHA:474 HPO NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G WDR19 WD repeat domain 19 IAGP ORPHA:3156 ORPHA:474 HPO NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 IAGP OMIM:618659 HPO NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519 		JBrowse link
Cone-shaped capital femoral epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP OMIM:300232 HPO NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
Cone-shaped distal radial epiphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
Cone-shaped epiphyses fused within their metaphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
Cone-shaped epiphyses of phalanges 2 to 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EVC EvC ciliary complex subunit 1 IAGP OMIM:225500 HPO NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP OMIM:225500 HPO NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
Cone-shaped epiphyses of the distal phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS28 mitochondrial ribosomal protein S28 IAGP OMIM:618958 HPO NCBI chr 8:79,918,717...80,030,259
Ensembl chr 8:79,918,717...80,030,289 		JBrowse link
Cone-shaped epiphyses of the middle phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP OMIM:190350 OMIM:190351 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
Cone-shaped epiphyses of the phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase IAGP OMIM:210600 HPO NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP OMIM:618150 ORPHA:85172 HPO NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
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
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:502 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:602849 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNA filamin A IAGP OMIM:309350 ORPHA:2484 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		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 IFT140 intraflagellar transport 140 IAGP OMIM:617781 HPO NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP OMIM:615630 HPO NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP OMIM:617102 HPO NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299 		JBrowse link
G KIF15 kinesin family member 15 IAGP ORPHA:261323 HPO NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP OMIM:619269 HPO NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP ORPHA:2751 HPO NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP OMIM:602875 HPO NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		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
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP OMIM:250460 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP OMIM:119600 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP OMIM:136140 HPO NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP OMIM:184260 HPO NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ORPHA:502 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
Cone-shaped epiphyses of the proximal phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPS1 transcriptional repressor GATA binding 1 IAGP OMIM:190350 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
Cone-shaped epiphysis of the 1st metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
Cone-shaped metacarpal epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		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 IHH Indian hedgehog signaling molecule IAGP ORPHA:63446 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		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 appendicular skeleton morphology 1819
              Abnormality of long bone morphology 756
                Abnormality of epiphysis morphology 268
                  Cone-shaped epiphysis 76
                    Cone-shaped capital femoral epiphysis 2
                    Cone-shaped distal radial epiphysis 1
                    Cone-shaped epiphyses fused within their metaphyses 1
                    Cone-shaped epiphyses of the phalanges of the hand + 28
                    Cone-shaped epiphyses of the toes + 0
                    Cone-shaped metacarpal epiphyses + 3
paths to the root