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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
G DDR2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679
JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar PMID:23956136, PMID:31630789 NCBI chr16:70,312,241...70,314,956 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 9:35,510,876...35,517,299
Ensembl chr 9:36,313,296...36,319,732
JBrowse link
G C9H9orf131 chromosome 9 C9orf131 homolog ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,892,418...34,896,577
Ensembl chr 9:35,697,549...35,702,395
JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
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 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926
JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,014,394...36,021,056
Ensembl chr 9:36,820,373...36,822,139
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108
JBrowse link
G CCL21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,545,248...34,546,801
Ensembl chr 9:35,353,768...35,354,924
JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,498,478...34,501,475 JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,461,685...35,470,578
Ensembl chr 9:36,264,500...36,273,326
JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,040,566...36,061,744
Ensembl chr 9:36,840,868...36,862,528
JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,583,351...35,587,870
Ensembl chr 9:36,385,867...36,390,540
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 9:34,836,691...34,845,471
Ensembl chr 9:35,643,056...35,651,879
JBrowse link
G FAM166B family with sequence similarity 166 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,411,930...35,442,971
Ensembl chr 9:36,216,030...36,260,042
JBrowse link
G FAM205A family with sequence similarity 205 member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,558,974...34,567,125
Ensembl chr 9:35,367,598...35,373,789
JBrowse link
G FAM205C family with sequence similarity 205 member C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,735,282...34,741,992
Ensembl chr 9:35,545,038...35,551,746
JBrowse link
G FAM214B family with sequence similarity 214 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,954,618...34,966,860
Ensembl chr 9:35,760,019...35,771,911
JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,668,180...35,679,557
Ensembl chr 9:36,471,284...36,479,018
JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648
JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,483,170...34,487,170 JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949
JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,986,341...36,013,662
Ensembl chr 9:36,787,649...36,814,812
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 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588
JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,663,433...35,666,479
Ensembl chr 9:36,465,806...36,468,325
JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,756,749...35,762,219
Ensembl chr 9:36,559,012...36,559,362
JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,487,313...34,498,477 JBrowse link
G LOC100977215 uncharacterized LOC100977215 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,501,614...34,502,680 JBrowse link
G LOC100981170 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,718,990...35,722,649 JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,603,948...35,605,085
Ensembl chr 9:36,406,679...36,407,845
JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637
JBrowse link
G PHF24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,735,800...34,829,555
Ensembl chr 9:35,611,517...35,635,964
JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,939,258...34,947,167
Ensembl chr 9:35,744,664...35,752,522
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 9:35,886,741...35,974,133
Ensembl chr 9:36,699,631...36,774,116
JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,600,213...35,641,371
Ensembl chr 9:36,403,447...36,411,420
JBrowse link
G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,339,146...35,411,989
Ensembl chr 9:36,200,865...36,215,582
JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,501,346...35,502,992
Ensembl chr 9:36,303,675...36,305,328
JBrowse link
G SPAAR small regulatory polypeptide of amino acid response ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,760,064...35,762,224
Ensembl chr 9:36,563,148...36,563,420
JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,658,541...35,662,920
Ensembl chr 9:36,460,951...36,465,112
JBrowse link
G STOML2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,950,387...34,953,707
Ensembl chr 9:35,755,790...35,759,091
JBrowse link
G TESK1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,456,965...35,461,736
Ensembl chr 9:36,258,902...36,264,545
JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,549,328...35,583,376
Ensembl chr 9:36,351,836...36,379,228
JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,679,698...35,704,945
Ensembl chr 9:36,482,289...36,507,300
JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394
JBrowse link
G UNC13B unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,011,350...35,255,148 JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
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 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926
JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:94,754,028...94,796,374
Ensembl chr 8:96,944,588...96,979,328
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 8:94,754,028...94,796,374
Ensembl chr 8:96,944,588...96,979,328
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 chr 3:110,152,415...110,169,736
Ensembl chr 3:117,076,649...117,094,041
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 chr18:42,427,493...42,842,450
Ensembl chr18:45,783,379...46,162,835
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 chr22:12,638,418...12,682,733
Ensembl chr22:30,495,546...30,539,389
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 chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
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 chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
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 chr18:42,427,493...42,842,450
Ensembl chr18:45,783,379...46,162,835
JBrowse link
G RAB33B RAB33B, member RAS oncogene family ISO ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar NCBI chr 4:131,815,088...131,838,957
Ensembl chr 4:143,123,478...143,147,147
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 4:131,815,088...131,838,957
Ensembl chr 4:143,123,478...143,147,147
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
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
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 Ensembl chr 1:1,168,935...1,171,337 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 Ensembl chr16:30,161,702...30,177,170 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 chr2A:72,225,310...72,878,506
Ensembl chr2A:73,723,392...74,371,820
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 chr 4:177,562,642...177,589,312
Ensembl chr 4:189,779,242...189,805,572
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 chr16:37,464,158...37,515,481
Ensembl chr16:56,596,851...56,648,085
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 9:69,146,016...69,172,355
Ensembl chr 9:97,267,088...97,293,385
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 9:69,176,088...69,209,574
Ensembl chr 9:97,294,407...97,330,059
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 chr16:70,312,241...70,314,956 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 chr11:111,680,884...111,932,424
Ensembl chr11:115,613,478...115,730,158
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 chr2A:19,979,188...20,000,733
Ensembl chr2A:20,095,710...20,116,015
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 chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679
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 chr10:84,383,936...84,471,745
Ensembl chr10:87,890,631...87,977,839
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 chr20:3,276,292...3,290,433
Ensembl chr20:3,038,779...3,052,789
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 8:141,195,959...141,211,849
Ensembl chr 8:144,185,674...144,201,040
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 chr12:40,726,137...40,757,690 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 chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
JBrowse link
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:30311386 NCBI chr10:84,383,936...84,471,745
Ensembl chr10:87,890,631...87,977,839
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
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:143,045,298...143,059,892
Ensembl chr  X:152,931,608...152,946,292
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 chr10:68,427,305...68,476,512
Ensembl chr10:70,951,190...70,994,936
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO OMIM NCBI chr12:40,726,137...40,757,690 JBrowse link
G TRAPPC2 trafficking protein particle complex 2 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar NCBI chr  X:6,321,264...6,341,650 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:6,321,264...6,341,650 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 chr10:68,427,305...68,476,512
Ensembl chr10:70,951,190...70,994,936
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 chr12:40,726,137...40,757,690 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:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271
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:119,298,428...119,311,625
Ensembl chr  X:129,591,222...129,605,214
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12749
    Developmental Diseases 9004
      bone development disease 1294
        osteochondrodysplasia 416
          spondyloepimetaphyseal dysplasia 75
            Anauxetic Dysplasia + 46
            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
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  disease 12749
    disease of anatomical entity 12279
      musculoskeletal system disease 5158
        connective tissue disease 3581
          bone disease 3083
            bone development disease 1294
              osteochondrodysplasia 416
                spondyloepimetaphyseal dysplasia 75
                  Anauxetic Dysplasia + 46
                  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.