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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 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO ClinVar Annotator: match by term: Spondylo-epi-(meta)-physeal dysplasia ClinVar PMID:24033266 NCBI chr 4:155,989,466...155,992,678
Ensembl chr 4:155,989,466...155,992,649
JBrowse link
G Col2a1 collagen, type II, alpha 1 IEA MouseDO NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
G Ddr2 discoidin domain receptor family, member 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr 1:169,972,307...170,110,836
Ensembl chr 1:169,972,307...170,110,762
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar PMID:23956136, PMID:31630789 NCBI chr 8:123,102,350...123,105,244
Ensembl chr 8:123,102,350...123,105,244
JBrowse link
Anauxetic Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700022I11Rik RIKEN cDNA 1700022I11 gene ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,969,946...42,974,325
Ensembl chr 4:42,969,604...42,983,640
JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor (GEF) 39 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,496,139...43,508,747
Ensembl chr 4:43,496,142...43,499,695
JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729
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 4:43,493,340...43,495,921
Ensembl chr 4:43,492,900...43,495,921
JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,983,504...43,985,533
Ensembl chr 4:43,983,483...43,985,423
JBrowse link
G Ccl19 chemokine (C-C motif) ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,754,525...42,756,365
Ensembl chr 4:42,754,525...42,756,577
JBrowse link
G Ccl21a chemokine (C-C motif) ligand 21A (serine) ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,772,860...42,773,991
Ensembl chr 4:42,772,860...42,773,993
JBrowse link
G Ccl27a chemokine (C-C motif) ligand 27A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,769,467...41,774,225
Ensembl chr 4:41,769,467...41,774,247
JBrowse link
G Cd72 CD72 antigen ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,447,724...43,455,102
Ensembl chr 4:43,446,462...43,454,628
JBrowse link
G Clta clathrin, light polypeptide (Lca) ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:44,003,816...44,032,846
Ensembl chr 4:44,004,452...44,032,846
JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,562,658...43,567,061
Ensembl chr 4:43,562,332...43,567,060
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 4:42,949,867...42,959,425
Ensembl chr 4:42,949,814...42,959,425
JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,427,014...43,432,131
Ensembl chr 4:43,427,019...43,429,134
JBrowse link
G Fam205a1 family with sequence similarity 205, member A1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,848,067...42,859,820
Ensembl chr 4:42,848,071...42,853,888
JBrowse link
G Fam205c family with sequence similarity 205, member C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,868,003...42,874,246
Ensembl chr 4:42,868,004...42,874,234
JBrowse link
G Fam214b family with sequence similarity 214, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,032,414...43,046,220
Ensembl chr 4:43,032,414...43,046,220
JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,659,622...43,668,859
Ensembl chr 4:43,659,622...43,669,145
JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,002,337...43,010,567
Ensembl chr 4:43,002,343...43,010,506
JBrowse link
G Galt galactose-1-phosphate uridyl transferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,755,517...41,759,243
Ensembl chr 4:41,755,228...41,758,695
JBrowse link
G Gba2 glucosidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,566,928...43,578,886
Ensembl chr 4:43,566,928...43,578,873
JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,957,702...43,979,118
Ensembl chr 4:43,957,401...43,979,118
JBrowse link
G Gm21586 predicted gene, 21586 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,438,686...42,448,653
Ensembl chr 4:42,438,970...42,439,970
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 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177
JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,654,227...43,656,445
Ensembl chr 4:43,654,227...43,656,466
JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,727,198...43,728,110
Ensembl chr 4:43,727,188...43,728,639
JBrowse link
G Il11ra1 interleukin 11 receptor, alpha chain 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474
JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,583,216...43,584,494
Ensembl chr 4:43,583,216...43,584,494
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244
JBrowse link
G Olfr155 olfactory receptor 155 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,854,292...43,855,463
Ensembl chr 4:43,851,565...43,857,595
JBrowse link
G Olfr71 olfactory receptor 71 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,705,628...43,706,566
Ensembl chr 4:43,704,562...43,710,255
JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,872,618...42,944,752
Ensembl chr 4:42,916,660...42,944,752
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,017,626...43,027,696
Ensembl chr 4:43,017,635...43,025,819
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 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806
JBrowse link
G Rgp1 RAB6A GEF compex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,578,735...43,587,487
Ensembl chr 4:43,578,715...43,587,487
JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:4608646, PMID:8034306, PMID:9156319, PMID:10026268, PMID:11006544, PMID:11207361, PMID:11701897, PMID:11940090, PMID:12107819, PMID:12888988, PMID:14569119, PMID:14569125, PMID:14608646, PMID:15096576, PMID:15780958, PMID:16097009, PMID:16244706, PMID:16254002, PMID:16630949, PMID:16832578, PMID:16838329, PMID:17015150, PMID:17189938, PMID:17489853, PMID:17701897, PMID:17937437, PMID:18164267, PMID:18804272, PMID:19626344, PMID:20112607, PMID:20375313, PMID:21063072, PMID:21146796, PMID:21396580, PMID:21570718, PMID:21956908, PMID:24217815, PMID:25616543, PMID:25663137, PMID:25741868, PMID:26279652, PMID:26915675, PMID:27569544, PMID:27862957, PMID:28094436, PMID:28492532, PMID:28743979, PMID:29744913 NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,783...43,493,063
Ensembl chr 4:43,492,783...43,493,063
JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,377,202...43,427,092
Ensembl chr 4:43,381,979...43,427,088
JBrowse link
G Sit1 suppression inducing transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,482,083...43,483,709
Ensembl chr 4:43,482,081...43,483,734
JBrowse link
G Spaar small regulatory polypeptide of amino acid response ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,730,034...43,734,534
Ensembl chr 4:43,730,034...43,759,462
JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,651,330...43,653,594
Ensembl chr 4:43,651,335...43,653,594
JBrowse link
G Stoml2 stomatin (Epb7.2)-like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,027,690...43,031,976
Ensembl chr 4:43,027,690...43,031,710
JBrowse link
G Tesk1 testis specific protein kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,442,277...43,448,075
Ensembl chr 4:43,441,939...43,448,064
JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691
JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,668,971...43,692,668
Ensembl chr 4:43,668,971...43,692,668
JBrowse link
G Tpm2 tropomyosin 2, beta ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765
JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,046,193...43,264,873
Ensembl chr 4:43,058,953...43,264,871
JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
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 4:43,493,340...43,495,921
Ensembl chr 4:43,492,900...43,495,921
JBrowse link
G Pop1 processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:34,495,311...34,530,653
Ensembl chr15:34,495,304...34,530,648
JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Anauxetic dysplasia 1 OMIM
ClinVar
PMID:8034306, PMID:8723091, PMID:9156319, PMID:10026268, PMID:11006544, PMID:11207361, PMID:11370632, PMID:11940090, PMID:12107819, PMID:12888988, PMID:14569119, PMID:14569125, PMID:16097009, PMID:16244706, PMID:16252239, PMID:16254002, PMID:16838329, PMID:17189938, PMID:17701897, PMID:20375313, PMID:25741868, PMID:28094436, PMID:28492532 NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,783...43,493,063
Ensembl chr 4:43,492,783...43,493,063
JBrowse link
Anauxetic Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) ISO ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 2 ClinVar
OMIM
PMID:21455487, PMID:27380734, PMID:28067412 NCBI chr15:34,495,311...34,530,653
Ensembl chr15:34,495,304...34,530,648
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 ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 3 ClinVar
OMIM
PMID:26633546, PMID:29620724, PMID:31250547 NCBI chr16:44,724,301...44,738,856
Ensembl chr16:44,724,301...44,737,284
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 ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome
ClinVar Annotator: match by OMIM:223800
OMIM
ClinVar
PMID:12161821, PMID:12491225, PMID:12554689, PMID:16097008, PMID:25741868, PMID:28492532 NCBI chr18:75,018,699...75,286,966
Ensembl chr18:75,018,781...75,286,964
JBrowse link
Liberfarb Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pisd phosphatidylserine decarboxylase ISO ClinVar Annotator: match by term: Liberfarb syndrome
ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, LIBERFARB TYPE
ClinVar
OMIM
PMID:3561949, PMID:30488656, PMID:30858161, PMID:31263216 NCBI chr 5:32,736,301...32,785,642
Ensembl chr 5:32,736,301...32,785,646
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 ClinVar Annotator: match by term: Metatropic dwarfism
ClinVar Annotator: match by term: Metatrophic dysplasia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:14755468, PMID:18587396, PMID:19232556, PMID:19661060, PMID:19666518, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21573172, PMID:21658220, PMID:21964574, PMID:21964829, PMID:22419508, PMID:22689196, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24575025, PMID:24677493, PMID:24789864, PMID:25256292, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26170305, PMID:26249260, PMID:26392352, PMID:26467025, PMID:27330106, PMID:27530454, PMID:28492532, PMID:28898540, PMID:30311386 NCBI chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
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
IEA
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
OMIM:242900
ClinVar Annotator: match by OMIM:242900
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:11799392, PMID:15523612, PMID:15880370, PMID:16237566, PMID:16840568, PMID:17089404, PMID:18805831, PMID:18974355, PMID:19127206, PMID:19793864, PMID:20301550, PMID:21914180, PMID:22998683, PMID:23671665, PMID:24589093, PMID:25741868, PMID:25748404, PMID:26089390, PMID:26195148, PMID:26499378, PMID:28492532, PMID:28780565, PMID:28796785, PMID:29802247, PMID:30026777, PMID:30311386, PMID:30784191, PMID:11799392 RGD:1599053 NCBI chr 1:72,536,695...72,636,790
Ensembl chr 1:72,583,251...72,633,134
JBrowse link
Smith-McCort dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO
IEA
ClinVar Annotator: match by term: Smith-McCort dysplasia
ClinVar Annotator: match by term: Smith-McCort dysplasia 1
OMIM:607326 | OMIM:615222
ClinVar Annotator: match by OMIM:607326
OMIM
ClinVar
MouseDO
PMID:12491225, PMID:16097008, PMID:18996921, PMID:19005420, PMID:25741868, PMID:28492532 NCBI chr18:75,018,699...75,286,966
Ensembl chr18:75,018,781...75,286,964
JBrowse link
G Rab33b RAB33B, member RAS oncogene family ISO
ISS
ClinVar Annotator: match by term: Smith-McCort dysplasia
OMIM:607326 | OMIM:615222
ClinVar
MouseDO
NCBI chr 3:51,483,966...51,496,228
Ensembl chr 3:51,483,920...51,496,232
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 ClinVar Annotator: match by term: Smith-McCort dysplasia 2
ClinVar Annotator: match by OMIM:615222
OMIM
ClinVar
PMID:16470731, PMID:22652534, PMID:23042644, PMID:25741868, PMID:28127940, PMID:28492532 NCBI chr 3:51,483,966...51,496,228
Ensembl chr 3:51,483,920...51,496,232
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 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
OMIM
ClinVar
PMID:23664117, PMID:23664118, PMID:24766538, PMID:25741868, PMID:27023906, PMID:28492532, PMID:29620724 NCBI chr 4:155,989,466...155,992,678
Ensembl chr 4:155,989,466...155,992,649
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 4:155,992,843...156,013,610
Ensembl chr 4:155,992,872...156,013,610
JBrowse link
G Tnfrsf4 tumor necrosis factor 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 4:156,013,595...156,016,613
Ensembl chr 4:156,013,843...156,016,612
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 ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 2
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations
ClinVar Annotator: match by OMIM:603546
OMIM
ClinVar
PMID:19277648, PMID:22152677, PMID:22152678, PMID:25256152, PMID:25741868, PMID:30311386 NCBI chr 7:127,027,729...127,042,467
Ensembl chr 7:127,027,729...127,042,471
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 ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 OMIM
ClinVar
PMID:26669664, PMID:30284759 NCBI chr 6:84,618,486...85,070,258
Ensembl chr 6:84,618,487...85,069,513
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 ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ClinVar
OMIM
PMID:21228277, PMID:25741868, PMID:28892125 NCBI chr 8:45,975,515...45,996,958
Ensembl chr 8:45,975,528...45,996,958
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 ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE ClinVar
OMIM
PMID:26365341 NCBI chr 8:94,601,941...94,660,276
Ensembl chr 8:94,601,937...94,660,275
JBrowse link
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nans N-acetylneuraminic acid synthase (sialic acid synthase) ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Genevieve type ClinVar
OMIM
PMID:15726110, PMID:27213289 NCBI chr 4:46,489,329...46,503,438
Ensembl chr 4:46,489,248...46,503,632
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 4:46,505,072...46,536,150
Ensembl chr 4:46,493,781...46,536,141
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 ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE ClinVar
OMIM
PMID:23956136, PMID:31630789 NCBI chr 8:123,102,350...123,105,244
Ensembl chr 8:123,102,350...123,105,244
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 ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE ClinVar
OMIM
PMID:30232230 NCBI chr 9:46,012,820...46,224,194
Ensembl chr 9:46,012,820...46,224,194
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 ClinVar Annotator: match by OMIM:608728 OMIM
ClinVar
PMID:15121775 NCBI chr12:8,947,929...8,972,028
Ensembl chr12:8,947,929...8,972,028
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 ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type
ClinVar Annotator: match by OMIM:602111
OMIM
ClinVar
PMID:8412645, PMID:16167086, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
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
IEA
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type
OMIM:612847
ClinVar Annotator: match by OMIM:612847
OMIM
ClinVar
MouseDO
PMID:9714015, PMID:9771708, PMID:19474428, PMID:22791835, PMID:23824674, PMID:25326635, PMID:25594860, PMID:25741868, PMID:28492532 NCBI chr19:32,595,669...32,667,187
Ensembl chr19:32,595,790...32,667,187
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 ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Shohat type ClinVar
OMIM
PMID:8357004, PMID:28263186 NCBI chr 2:130,654,033...130,664,654
Ensembl chr 2:130,653,960...130,664,659
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 ClinVar Annotator: match by term: Sponastrime dysplasia OMIM
ClinVar
PMID:10797420, PMID:25741868, PMID:30773277, PMID:30773278 NCBI chr15:76,626,237...76,639,929
Ensembl chr15:76,626,002...76,639,958
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 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia
ClinVar Annotator: match by term: SMED Strudwick type
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Strudwick type
ClinVar Annotator: match by OMIM:184250
OMIM
ClinVar
PMID:7550321, PMID:7752132, PMID:7977371, PMID:8325895, PMID:8486375, PMID:8702139, PMID:8723096, PMID:9101290, PMID:15895462, PMID:16088915, PMID:17509551, PMID:25592122, PMID:25741868, PMID:25741869, PMID:26037341, PMID:28492532 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
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 chr 1:71,585,473...71,653,280
Ensembl chr 1:71,585,520...71,653,200
JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:30311386 NCBI chr19:32,595,669...32,667,187
Ensembl chr19:32,595,790...32,667,187
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar NCBI chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
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 ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked ClinVar
OMIM
PMID:8064814, PMID:27236923 NCBI chr  X:73,483,601...73,495,936
Ensembl chr  X:73,483,602...73,495,933
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 chr10:60,181,527...60,222,114
Ensembl chr10:60,181,532...60,219,260
JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO
IEA
IAGP
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital type
OMIM:183900
DNA:missense mutations:cds:p.G504S, p.G801S, p.G1176V (human)
DNA:missense mutation:cds:p.P986L (human)
DNA:missense mutation:cds:p.R1417C (mouse)
OMIM
ClinVar
MouseDO
PMID:2339128, PMID:2543071, PMID:7752132, PMID:7977371, PMID:8325895, PMID:8423604, PMID:8702139, PMID:9101290, PMID:10678662, PMID:11746045, PMID:24033266, PMID:25592122, PMID:25741868, PMID:25741869, PMID:26037341, PMID:26380986, PMID:28492532, PMID:23079993, PMID:21204228, PMID:12968670 RGD:11667105, RGD:8657353, RGD:729929 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 IEA OMIM:183900 MouseDO NCBI chr13:89,540,529...89,611,832
Ensembl chr13:89,539,796...89,611,652
JBrowse link
G Trappc2 trafficking protein particle complex 2 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar NCBI chr  X:166,440,702...166,453,140
Ensembl chr  X:166,440,574...166,453,140
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 ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda ClinVar
OMIM
PMID:9990351, PMID:10431248, PMID:10999831, PMID:11326333, PMID:11424925, PMID:12030902, PMID:12446987, PMID:12919139, PMID:14755465, PMID:18414213, PMID:23656395, PMID:25741868 NCBI chr  X:166,440,702...166,453,140
Ensembl chr  X:166,440,574...166,453,140
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 ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocations
ClinVar Annotator: match by OMIM:143095
OMIM
ClinVar
PMID:112567, PMID:9039660, PMID:15098240, PMID:15215498, PMID:15368507, PMID:18513679, PMID:18698629, PMID:19320654, PMID:20830804, PMID:23918704, PMID:25741868, PMID:26402641, PMID:27753269, PMID:28492532, PMID:29453417 NCBI chr10:60,181,527...60,222,114
Ensembl chr10:60,181,532...60,219,260
JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia ClinVar PMID:7752132, PMID:8325895, PMID:9101290, PMID:11746045, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
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, mitochondrion-associated 1 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration ClinVar
OMIM
PMID:10486082, PMID:16924009, PMID:23239615, PMID:25741868, PMID:27102849, PMID:28842795 NCBI chr  X:48,474,944...48,513,563
Ensembl chr  X:48,474,944...48,513,563
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:48,513,663...48,530,240
Ensembl chr  X:48,519,285...48,530,232
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13332
    Developmental Diseases 9340
      bone development disease 1328
        osteochondrodysplasia 432
          spondyloepimetaphyseal dysplasia 78
            Anauxetic Dysplasia + 48
            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 4
            spondyloepiphyseal dysplasia tarda + 1
            spondyloepiphyseal dysplasia with congenital joint dislocations 2
Path 2
Term Annotations click to browse term
  disease 13332
    disease of anatomical entity 12813
      musculoskeletal system disease 5360
        connective tissue disease 3714
          bone disease 3171
            bone development disease 1328
              osteochondrodysplasia 432
                spondyloepimetaphyseal dysplasia 78
                  Anauxetic Dysplasia + 48
                  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 4
                  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.