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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:spondyloepimetaphyseal dysplasia
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Accession:DOID:0080027 term browser browse the term
Definition:An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. (DO)
Synonyms:exact_synonym: SPONDYLO-EPI-(META)-PHYSEAL DYSPLASIA
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
spondyloepimetaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondylo-epi-(meta)-physeal dysplasia ClinVar PMID:24033266 NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,375
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,003...33,568,076
JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar PMID:23956136, PMID:31630789 NCBI chr 6:410,923...413,396 JBrowse link
Anauxetic Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,383,684...236,387,705
Ensembl chr 1:236,377,802...236,387,667
JBrowse link
G C1H9orf131 chromosome 1 C9orf131 homolog ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,844,826...235,849,556
Ensembl chr 1:235,844,951...235,849,058
JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,388,690...236,400,822
JBrowse link
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:8034306, PMID:9156319, PMID:10026268, PMID:11006544, PMID:11207361, PMID:11940090, PMID:12107819, PMID:12888988, PMID:14569119, PMID:16097009, PMID:16254002, PMID:16838329, PMID:17701897, PMID:25741868, PMID:28094436, PMID:28492532 NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666
JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,947,871...236,950,447
Ensembl chr 1:236,948,636...236,950,402
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,064...32,112,739
JBrowse link
G CCL21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,093,783...32,094,482
Ensembl chr10:31,933,733...32,094,583
JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974
JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,345,894...236,355,755 JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,971,317...236,993,291
Ensembl chr 1:236,971,505...237,001,769
JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,450,573...236,456,381
Ensembl chr 1:236,450,342...236,456,373
JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,790,657...235,799,385
Ensembl chr 1:235,790,289...235,799,385
JBrowse link
G FAM166B family with sequence similarity 166 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,322,893...236,325,008
Ensembl chr 1:236,322,897...236,324,981
JBrowse link
G FAM205A family with sequence similarity 205 member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,062,243...32,071,394 JBrowse link
G FAM205C family with sequence similarity 205 member C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,677,529...235,687,421 JBrowse link
G FAM214B family with sequence similarity 214 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,895,613...235,907,142
Ensembl chr 1:235,895,621...235,907,110
JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,538,172...236,551,064
Ensembl chr 1:236,539,261...236,548,116
JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,349...235,887,992
JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,173...32,154,743
JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210
JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,919,821...236,943,828
Ensembl chr 1:236,919,877...236,943,823
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767
JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,670,418...236,671,435 JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,138,984...32,149,315 JBrowse link
G LOC100157239 olfactory receptor 13J1-like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,595,655...236,597,257 JBrowse link
G LOC100519461 olfactory receptor 2S2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,709,468...236,712,100
Ensembl chr 1:236,709,673...236,710,632
JBrowse link
G LOC110255597 uncharacterized LOC110255597 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,134,464...32,135,892 JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,472,652...236,473,664
Ensembl chr 1:236,472,548...236,473,819
JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,154
JBrowse link
G PHF24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,757,499...235,783,053
Ensembl chr 1:235,757,797...235,783,051
JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,880,088...235,888,338
Ensembl chr 1:235,871,072...235,888,000
JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,398...236,898,279
JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,468,115...236,478,347
Ensembl chr 1:236,468,320...236,477,705
JBrowse link
G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,265,915...236,322,958
Ensembl chr 1:236,265,973...236,322,958
JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,371,708...236,373,414
Ensembl chr 1:236,371,697...236,373,419
JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,526,659...236,532,181
Ensembl chr 1:236,529,262...236,534,630
JBrowse link
G STOML2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,891,479...235,894,944
Ensembl chr 1:235,890,679...235,894,625
JBrowse link
G TESK1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,341,160...236,345,964
Ensembl chr 1:236,341,179...236,345,962
JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,416,041...236,450,978
Ensembl chr 1:236,416,044...236,450,922
JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,550,759...236,583,635 JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,247...236,410,471
JBrowse link
G UNC13B unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,918,751...236,158,098 JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,796,446...235,876,321
JBrowse link
anauxetic dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia 1 ClinVar PMID:8034306, PMID:9156319, PMID:10026268, PMID:11006544, PMID:11207361, PMID:11940090, PMID:12107819, PMID:12888988, PMID:14569119, PMID:16097009, PMID:16254002, PMID:16838329, PMID:17701897, PMID:25741868, PMID:28094436, PMID:28492532 NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666
JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:38,608,536...38,656,204
Ensembl chr 4:38,607,706...38,656,151
JBrowse link
Anauxetic Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POP1 POP1 homolog, ribonuclease P/MRP subunit ISO OMIM NCBI chr 4:38,608,536...38,656,204
Ensembl chr 4:38,607,706...38,656,151
JBrowse link
Anauxetic Dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEPRO nucleolus and neural progenitor protein ISO OMIM NCBI chr13:146,902,010...146,914,755
Ensembl chr13:146,902,041...146,915,164
JBrowse link
Dyggve-Melchior-Clausen disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYM dymeclin ISO OMIM NCBI chr 1:98,642,506...99,024,664
Ensembl chr 1:98,638,339...99,024,642
JBrowse link
Liberfarb Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PISD phosphatidylserine decarboxylase ISO OMIM NCBI chr14:48,303,459...48,341,820
Ensembl chr14:48,303,458...48,341,796
JBrowse link
metatropic dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO OMIM NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,582
JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 ISO OMIM NCBI chr15:118,627,734...118,688,005
Ensembl chr15:118,629,238...118,687,940
JBrowse link
Smith-McCort dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYM dymeclin ISO OMIM NCBI chr 1:98,642,506...99,024,664
Ensembl chr 1:98,638,339...99,024,642
JBrowse link
G RAB33B RAB33B, member RAS oncogene family ISO ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar NCBI chr 8:87,545,106...87,570,545
Ensembl chr 8:87,545,110...87,570,545
JBrowse link
Smith-McCort Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB33B RAB33B, member RAS oncogene family ISO OMIM NCBI chr 8:87,545,106...87,570,545
Ensembl chr 8:87,545,110...87,570,545
JBrowse link
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO OMIM NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112
JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,545,235
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,846...63,526,666
JBrowse link
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF22 kinesin family member 22 ISO OMIM NCBI chr 3:18,023,104...18,041,732
Ensembl chr 3:18,023,093...18,041,887
JBrowse link
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXOC6B exocyst complex component 6B ISO OMIM NCBI chr 3:69,939,156...70,546,702
Ensembl chr 3:69,939,173...70,546,702
JBrowse link
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UFSP2 UFM1 specific peptidase 2 ISO OMIM NCBI chr15:46,448,918...46,470,616
Ensembl chr15:46,448,904...46,470,572
JBrowse link
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPRY1 ring finger and SPRY domain containing 1 ISO OMIM NCBI chr 6:19,154,413...19,204,827
Ensembl chr 6:19,154,416...19,204,825
JBrowse link
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NANS N-acetylneuraminate synthase ISO OMIM NCBI chr 1:239,881,984...239,912,727
Ensembl chr 1:239,842,063...239,919,984
JBrowse link
G TRIM14 tripartite motif containing 14 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Genevieve type ClinVar PMID:15726110, PMID:27213289 NCBI chr 1:239,912,126...239,945,082
Ensembl chr 1:239,913,474...239,944,934
JBrowse link
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL13 ribosomal protein L13 ISO OMIM NCBI chr 6:410,923...413,396 JBrowse link
Spondyloepimetaphyseal Dysplasia, Krakow Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIK3 SIK family kinase 3 ISO OMIM NCBI chr 9:44,223,227...44,471,689
Ensembl chr 9:44,223,227...44,513,822
JBrowse link
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MATN3 matrilin 3 ISO OMIM NCBI chr 3:118,185,928...118,206,465
Ensembl chr 3:118,185,975...118,205,782
JBrowse link
spondyloepimetaphyseal dysplasia, Missouri type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP13 matrix metallopeptidase 13 ISO OMIM NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,003...33,568,076
JBrowse link
spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO OMIM NCBI chr14:99,718,299...99,816,346
Ensembl chr14:99,685,578...99,808,389
JBrowse link
Spondyloepimetaphyseal Dysplasia, Shohat Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDRGK1 DDRGK domain containing 1 ISO OMIM NCBI chr17:32,479,981...32,491,401
Ensembl chr17:32,479,976...32,491,400
JBrowse link
spondyloepimetaphyseal dysplasia, Sponastrime type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TONSL tonsoku like, DNA repair protein ISO OMIM NCBI chr 4:349,992...361,749
Ensembl chr 4:348,652...362,200
JBrowse link
spondyloepimetaphyseal dysplasia, Strudwick type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain ISO OMIM NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G FN1 fibronectin 1 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:1677003, PMID:15666313, PMID:25741868, PMID:29100092, PMID:32200603 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
JBrowse link
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:30311386 NCBI chr14:99,718,299...99,816,346
Ensembl chr14:99,685,578...99,808,389
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,582
JBrowse link
Spondyloepimetaphyseal Dysplasia, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan ISO OMIM NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,282,224...124,295,448
JBrowse link
spondyloepiphyseal dysplasia congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar PMID:28492532 NCBI chr14:74,850,931...74,891,527
Ensembl chr14:74,850,931...74,891,529
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO OMIM NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G TRAPPC2 trafficking protein particle complex 2 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar NCBI chr  X:10,353,417...10,366,095 JBrowse link
spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC2 trafficking protein particle complex 2 ISO OMIM NCBI chr  X:10,353,417...10,366,095 JBrowse link
spondyloepiphyseal dysplasia with congenital joint dislocations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 ISO OMIM NCBI chr14:74,850,931...74,891,527
Ensembl chr14:74,850,931...74,891,529
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia ClinVar PMID:7752132, PMID:8325895, PMID:9101290, PMID:11746045, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO OMIM NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,519...106,708,317
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration ClinVar PMID:10486082, PMID:16924009, PMID:23239615, PMID:25741868, PMID:27102849, PMID:28842795 NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,272...106,723,413
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12617
    Developmental Diseases 8914
      bone development disease 1292
        osteochondrodysplasia 410
          spondyloepimetaphyseal dysplasia 74
            Anauxetic Dysplasia + 45
            Dyggve-Melchior-Clausen disease + 2
            Liberfarb Syndrome 1
            SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 1
            Schimke immuno-osseous dysplasia 1
            Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 0
            Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
            Spondyloepimetaphyseal Dysplasia with Joint Laxity + 5
            Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
            Spondyloepimetaphyseal Dysplasia, Irapa Type 0
            Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 1
            Spondyloepimetaphyseal Dysplasia, Krakow Type 1
            Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 1
            Spondyloepimetaphyseal Dysplasia, Shohat Type 1
            Spondyloepimetaphyseal Dysplasia, X-Linked 1
            X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
            metatropic dysplasia 1
            spondyloepimetaphyseal dysplasia, Genevieve-type 2
            spondyloepimetaphyseal dysplasia, Missouri type 1
            spondyloepimetaphyseal dysplasia, Pakistani type 1
            spondyloepimetaphyseal dysplasia, Sponastrime type 1
            spondyloepimetaphyseal dysplasia, Strudwick type 4
            spondyloepiphyseal dysplasia congenita 3
            spondyloepiphyseal dysplasia tarda + 1
            spondyloepiphyseal dysplasia with congenital joint dislocations 2
Path 2
Term Annotations click to browse term
  disease 12617
    disease of anatomical entity 12149
      musculoskeletal system disease 5133
        connective tissue disease 3555
          bone disease 3053
            bone development disease 1292
              osteochondrodysplasia 410
                spondyloepimetaphyseal dysplasia 74
                  Anauxetic Dysplasia + 45
                  Dyggve-Melchior-Clausen disease + 2
                  Liberfarb Syndrome 1
                  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 1
                  Schimke immuno-osseous dysplasia 1
                  Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 0
                  Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
                  Spondyloepimetaphyseal Dysplasia with Joint Laxity + 5
                  Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
                  Spondyloepimetaphyseal Dysplasia, Irapa Type 0
                  Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 1
                  Spondyloepimetaphyseal Dysplasia, Krakow Type 1
                  Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 1
                  Spondyloepimetaphyseal Dysplasia, Shohat Type 1
                  Spondyloepimetaphyseal Dysplasia, X-Linked 1
                  X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
                  metatropic dysplasia 1
                  spondyloepimetaphyseal dysplasia, Genevieve-type 2
                  spondyloepimetaphyseal dysplasia, Missouri type 1
                  spondyloepimetaphyseal dysplasia, Pakistani type 1
                  spondyloepimetaphyseal dysplasia, Sponastrime type 1
                  spondyloepimetaphyseal dysplasia, Strudwick type 4
                  spondyloepiphyseal dysplasia congenita 3
                  spondyloepiphyseal dysplasia tarda + 1
                  spondyloepiphyseal dysplasia with congenital joint dislocations 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.