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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 IAGP ClinVar Annotator: match by term: Spondylo-epi-(meta)-physeal dysplasia ClinVar PMID:24033266 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISS MouseDO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G RPL13 ribosomal protein L13 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar PMID:23956136, PMID:31630789 NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,677...89,564,542
Ensembl chr16:89,560,677...89,564,542
JBrowse link
Anauxetic Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL162231.1 uncharacterized LOC730098 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,664,163...34,666,636
Ensembl chr 9:34,664,163...34,666,112
JBrowse link
G ARHGEF39 Rho guanine nucleotide exchange factor 39 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,658,875...35,665,205
Ensembl chr 9:35,658,875...35,675,866
JBrowse link
G C9orf131 chromosome 9 open reading frame 131 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,041,095...35,045,986
Ensembl chr 9:35,041,095...35,045,986
JBrowse link
G CA9 carbonic anhydrase 9 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,673,809...35,681,159
Ensembl chr 9:35,673,918...35,681,159
JBrowse link
G CCDC107 coiled-coil domain containing 107 IAGP 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 9:35,658,292...35,661,511
Ensembl chr 9:35,658,290...35,661,511
JBrowse link
G CCIN calicin IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,169,388...36,171,334
Ensembl chr 9:36,169,388...36,171,334
JBrowse link
G CCL19 C-C motif chemokine ligand 19 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
JBrowse link
G CCL21 C-C motif chemokine ligand 21 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,709,005...34,710,136
Ensembl chr 9:34,709,005...34,710,136
JBrowse link
G CCL27 C-C motif chemokine ligand 27 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,661,890...34,662,657
Ensembl chr 9:34,661,880...34,664,048
JBrowse link
G CD72 CD72 molecule IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,609,981...35,618,427
Ensembl chr 9:35,609,979...35,646,810
Ensembl chr 9:35,609,979...35,646,810
JBrowse link
G CLTA clathrin light chain A IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,190,855...36,212,059
Ensembl chr 9:36,190,856...36,304,781
JBrowse link
G CREB3 cAMP responsive element binding protein 3 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,732,666...35,736,999
Ensembl chr 9:35,732,598...35,736,999
JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,989,745...34,998,900
Ensembl chr 9:34,989,641...34,998,900
JBrowse link
G DNAJB5-DT DNAJB5 divergent transcript IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,985,410...34,989,379
Ensembl chr 9:34,985,410...34,989,379
JBrowse link
G FAM166B family with sequence similarity 166 member B IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,561,830...35,563,878
Ensembl chr 9:35,561,831...35,563,899
JBrowse link
G FAM205A family with sequence similarity 205 member A IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,723,053...34,729,488
Ensembl chr 9:34,723,053...34,729,488
JBrowse link
G FAM205C family with sequence similarity 205 member C IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,889,066...34,895,764
Ensembl chr 9:34,889,066...34,895,764
JBrowse link
G FAM214B family with sequence similarity 214 member B IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,104,117...35,116,341
Ensembl chr 9:35,104,112...35,116,341
JBrowse link
G FAM221B family with sequence similarity 221 member B IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,816,391...35,829,148
Ensembl chr 9:35,816,391...35,828,747
JBrowse link
G FANCG FA complementation group G IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,016
Ensembl chr 9:35,073,835...35,080,016
JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035
JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,736,862...35,749,228
Ensembl chr 9:35,736,866...35,749,228
JBrowse link
G GLIPR2 GLI pathogenesis related 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,136,536...36,163,913
Ensembl chr 9:36,136,536...36,163,913
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,214,441...36,277,056
Ensembl chr 9:36,214,441...36,277,056
JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,812,960...35,815,479
Ensembl chr 9:35,812,960...35,815,354
JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,906,202...35,907,136
Ensembl chr 9:35,906,202...35,907,136
JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,650,702...34,661,892
Ensembl chr 9:34,650,702...34,661,892
JBrowse link
G MIR4667 microRNA 4667 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,608,094...35,608,159
Ensembl chr 9:35,608,094...35,608,159
JBrowse link
G MIR6852 microRNA 6852 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,710,676...35,710,741
Ensembl chr 9:35,710,676...35,710,741
JBrowse link
G MIR6853 microRNA 6853 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,732,922...35,732,995
Ensembl chr 9:35,732,922...35,732,995
JBrowse link
G MSMP microseminoprotein, prostate associated IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,752,990...35,754,276
Ensembl chr 9:35,752,990...35,756,613
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,782,086...35,809,731
Ensembl chr 9:35,791,591...35,809,732
Ensembl chr 9:35,791,591...35,809,732
JBrowse link
G OR13J1 olfactory receptor family 13 subfamily J member 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,869,463...35,870,401
Ensembl chr 9:35,869,263...35,870,601
JBrowse link
G OR2S2 olfactory receptor family 2 subfamily S member 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,957,108...35,958,154
Ensembl chr 9:35,957,108...35,958,154
JBrowse link
G PHF24 PHD finger protein 24 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:34,810,040...34,982,544
Ensembl chr 9:34,957,608...34,982,544
JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,085,496...35,096,591
Ensembl chr 9:35,088,688...35,096,601
JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:36,036,905...36,124,455
Ensembl chr 9:36,036,913...36,124,455
JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,749,287...35,758,585
Ensembl chr 9:35,749,287...35,758,585
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP 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 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 RUSC2 RUN and SH3 domain containing 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,490,111...35,561,898
Ensembl chr 9:35,490,111...35,561,898
JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,649,295...35,650,931
Ensembl chr 9:35,649,295...35,650,950
JBrowse link
G SPAAR small regulatory polypeptide of amino acid response IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,909,490...35,911,686
Ensembl chr 9:35,909,490...35,937,153
JBrowse link
G SPAG8 sperm associated antigen 8 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,807,785...35,812,272
Ensembl chr 9:35,808,045...35,812,272
JBrowse link
G STOML2 stomatin like 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,099,776...35,103,195
Ensembl chr 9:35,099,776...35,103,195
JBrowse link
G TESK1 testis associated actin remodelling kinase 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,605,262...35,610,033
Ensembl chr 9:35,605,262...35,610,041
JBrowse link
G TLN1 talin 1 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,696,948...35,732,195
Ensembl chr 9:35,696,948...35,732,195
JBrowse link
G TMEM8B transmembrane protein 8B IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,825,817...35,865,515
Ensembl chr 9:35,814,451...35,865,518
JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G UNC13B unc-13 homolog B IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,162,009...35,405,338
Ensembl chr 9:35,161,992...35,405,338
JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,056,064...35,072,627
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 IAGP 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 9:35,658,292...35,661,511
Ensembl chr 9:35,658,290...35,661,511
JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar Annotator: match by term: Anauxetic dysplasia 1
ClinVar
OMIM
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 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
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 IAGP ClinVar Annotator: match by term: Anauxetic dysplasia 2 ClinVar
OMIM
PMID:21455487, PMID:27380734, PMID:28067412 NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835
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 IAGP ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 3 ClinVar
OMIM
PMID:26633546, PMID:29620724, PMID:31250547 NCBI chr 3:113,002,444...113,019,721
Ensembl chr 3:113,002,444...113,019,861
JBrowse link
Dyggve-Melchior-Clausen disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC016866.1 novel transcript, antisense to DYM IAGP ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome ClinVar PMID:12554689, PMID:25741868 NCBI chr18:49,023,703...49,048,474
Ensembl chr18:49,023,703...49,048,474
JBrowse link
G DYM dymeclin IAGP ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome ClinVar
OMIM
PMID:12161821, PMID:12491225, PMID:12554689, PMID:16097008, PMID:25741868, PMID:28492532 NCBI chr18:49,036,387...49,460,709
Ensembl chr18:49,036,387...49,461,347
Ensembl chr18:49,036,387...49,461,347
JBrowse link
Liberfarb Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PISD phosphatidylserine decarboxylase IAGP 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 chr22:31,618,491...31,662,564
Ensembl chr22:31,618,491...31,662,432
JBrowse link
metatropic dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR4497 microRNA 4497 IAGP ClinVar Annotator: match by term: Metatrophic dysplasia ClinVar NCBI chr12:109,833,348...109,833,436
Ensembl chr12:109,833,348...109,833,436
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP
EXP
ClinVar Annotator: match by term: Metatrophic dysplasia
ClinVar Annotator: match by term: Metatropic dwarfism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
Ensembl chr12:109,783,087...109,833,406
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 IAGP
EXP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
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 2:216,412,484...216,483,053
Ensembl chr 2:216,412,414...216,483,053
JBrowse link
Smith-McCort dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC016866.1 novel transcript, antisense to DYM IAGP ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar NCBI chr18:49,023,703...49,048,474
Ensembl chr18:49,023,703...49,048,474
JBrowse link
G DYM dymeclin IAGP ClinVar Annotator: match by term: Smith-McCort dysplasia
ClinVar Annotator: match by term: Smith-McCort dysplasia 1
ClinVar
OMIM
PMID:12491225, PMID:16097008, PMID:18996921, PMID:19005420, PMID:25741868, PMID:28492532 NCBI chr18:49,036,387...49,460,709
Ensembl chr18:49,036,387...49,461,347
Ensembl chr18:49,036,387...49,461,347
JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP
IEA
ClinVar Annotator: match by term: Smith-McCort dysplasia
OMIM:607326 | OMIM:615222
ClinVar
MouseDO
NCBI chr 4:139,453,232...139,476,609
Ensembl chr 4:139,453,232...139,476,609
JBrowse link
G RAB33B-AS1 RAB33B antisense RNA 1 IAGP ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar NCBI chr 4:139,451,675...139,454,041 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 IAGP ClinVar Annotator: match by term: Smith-McCort dysplasia 2 ClinVar
OMIM
PMID:16470731, PMID:22652534, PMID:23042644, PMID:25741868, PMID:28127940, PMID:28492532 NCBI chr 4:139,453,232...139,476,609
Ensembl chr 4:139,453,232...139,476,609
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 IAGP 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 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G SDF4 stromal cell derived factor 4 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 1:1,216,908...1,232,005
Ensembl chr 1:1,216,908...1,232,067
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 1:1,211,326...1,216,812
Ensembl chr 1:1,211,340...1,214,153
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 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 2
ClinVar
OMIM
PMID:19277648, PMID:22152677, PMID:22152678, PMID:25256152, PMID:25741868, PMID:30311386 NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,719...29,805,385
Ensembl chr16:29,790,719...29,805,385
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 IAGP ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 OMIM
ClinVar
PMID:26669664, PMID:30284759 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041
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 IAGP ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ClinVar
OMIM
PMID:21228277, PMID:25741868, PMID:28892125 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
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 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type ClinVar
OMIM
PMID:26365341 NCBI chr16:57,186,137...57,240,473
Ensembl chr16:57,186,137...57,240,469
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 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Genevieve type ClinVar
OMIM
PMID:15726110, PMID:27213289 NCBI chr 9:98,056,728...98,083,083
Ensembl chr 9:98,056,732...98,083,077
JBrowse link
G TRIM14 tripartite motif containing 14 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Genevieve type ClinVar PMID:15726110, PMID:27213289 NCBI chr 9:98,072,014...98,119,420
Ensembl chr 9:98,069,275...98,119,222
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 IAGP ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE ClinVar
OMIM
PMID:23956136, PMID:31630789 NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,677...89,564,542
Ensembl chr16:89,560,677...89,564,542
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 IAGP ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE ClinVar
OMIM
PMID:30232230 NCBI chr11:116,843,410...117,098,453
Ensembl chr11:116,843,402...117,098,437
JBrowse link
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC079145.1 novel transcript IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related ClinVar PMID:15121775 NCBI chr 2:19,990,204...20,004,806
Ensembl chr 2:19,990,209...20,004,795
JBrowse link
G MATN3 matrilin 3 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related ClinVar
OMIM
PMID:15121775 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
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 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type ClinVar
OMIM
PMID:8412645, PMID:16167086, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type ClinVar
OMIM
PMID:9714015, PMID:9771708, PMID:19474428, PMID:22791835, PMID:23824674, PMID:25326635, PMID:25594860, PMID:25741868, PMID:28492532 NCBI chr10:87,659,878...87,747,705
Ensembl chr10:87,659,613...87,747,705
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 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Shohat type ClinVar
OMIM
PMID:8357004, PMID:28263186 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685
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 IAGP ClinVar Annotator: match by term: Sponastrime dysplasia OMIM
ClinVar
PMID:10797420, PMID:25741868, PMID:30773277, PMID:30773278 NCBI chr 8:144,428,775...144,444,488
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
G TONSL-AS1 TONSL antisense RNA 1 IAGP ClinVar Annotator: match by term: Sponastrime dysplasia ClinVar PMID:10797420, PMID:30773277, PMID:30773278 NCBI chr 8:144,435,168...144,439,893
Ensembl chr 8:144,437,675...144,439,971
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 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Strudwick type
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia
ClinVar Annotator: match by term: SMED Strudwick type
ClinVar
OMIM
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 chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G FN1 fibronectin 1 IAGP ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:1677003, PMID:15666313, PMID:25741868, PMID:29100092, PMID:32200603 NCBI chr 2:215,360,862...215,436,167
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G MIR4497 microRNA 4497 IAGP ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar NCBI chr12:109,833,348...109,833,436
Ensembl chr12:109,833,348...109,833,436
JBrowse link
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 IAGP ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:30311386 NCBI chr10:87,659,878...87,747,705
Ensembl chr10:87,659,613...87,747,705
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Spondyloepimetaphyseal Dysplasia, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked ClinVar
OMIM
PMID:8064814, PMID:27236923 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
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 IAGP ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar PMID:28492532 NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO
IAGP
DNA:missense mutation:cds:p.R1417C (mouse)
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital type
DNA:missense mutation:cds:p.P986L (human)
DNA:missense mutations:cds:p.G504S, p.G801S, p.G1176V (human)
ClinVar
OMIM
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:12968670, PMID:21204228, PMID:23079993 RGD:729929, RGD:8657353, RGD:11667105 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G HAPLN1 hyaluronan and proteoglycan link protein 1 ISS OMIM:183900 MouseDO NCBI chr 5:83,637,805...83,721,210
Ensembl chr 5:83,637,805...83,720,855
JBrowse link
G TRAPPC2 trafficking protein particle complex 2 IAGP ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar NCBI chr  X:13,712,243...13,734,633
Ensembl chr  X:13,712,244...13,734,635
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 IAGP 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:13,712,243...13,734,633
Ensembl chr  X:13,712,244...13,734,635
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 IAGP ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocations ClinVar
OMIM
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 chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia ClinVar PMID:7752132, PMID:8325895, PMID:9101290, PMID:11746045, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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 IAGP 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:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP 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:130,110,633...130,184,873
Ensembl chr  X:130,171,962...130,184,870
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Developmental Diseases 11300
      bone development disease 1432
        osteochondrodysplasia 469
          spondyloepimetaphyseal dysplasia 87
            Anauxetic Dysplasia + 52
            Dyggve-Melchior-Clausen disease + 4
            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 2
            Spondyloepimetaphyseal Dysplasia, Shohat Type 1
            Spondyloepimetaphyseal Dysplasia, X-Linked 1
            X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
            metatropic dysplasia 2
            spondyloepimetaphyseal dysplasia, Genevieve-type 2
            spondyloepimetaphyseal dysplasia, Missouri type 1
            spondyloepimetaphyseal dysplasia, Pakistani type 1
            spondyloepimetaphyseal dysplasia, Sponastrime type 2
            spondyloepimetaphyseal dysplasia, Strudwick type 5
            spondyloepiphyseal dysplasia congenita 4
            spondyloepiphyseal dysplasia tarda + 1
            spondyloepiphyseal dysplasia with congenital joint dislocations 2
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 16335
      musculoskeletal system disease 5929
        connective tissue disease 4109
          bone disease 3533
            bone development disease 1432
              osteochondrodysplasia 469
                spondyloepimetaphyseal dysplasia 87
                  Anauxetic Dysplasia + 52
                  Dyggve-Melchior-Clausen disease + 4
                  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 2
                  Spondyloepimetaphyseal Dysplasia, Shohat Type 1
                  Spondyloepimetaphyseal Dysplasia, X-Linked 1
                  X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
                  metatropic dysplasia 2
                  spondyloepimetaphyseal dysplasia, Genevieve-type 2
                  spondyloepimetaphyseal dysplasia, Missouri type 1
                  spondyloepimetaphyseal dysplasia, Pakistani type 1
                  spondyloepimetaphyseal dysplasia, Sponastrime type 2
                  spondyloepimetaphyseal dysplasia, Strudwick type 5
                  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.