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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

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show annotations for term's descendants           Sort by:
spondyloepimetaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO MouseDO NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chrNW_004936551:5,040,084...5,050,384
Ensembl chrNW_004936551:5,040,084...5,050,384 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar PMID:23956136 PMID:25741868 PMID:31630789 NCBI chrNW_004936641:437,684...441,257
Ensembl chrNW_004936641:437,731...440,999 		JBrowse link
anauxetic dysplasia term browser
Symbol Object Name Qualifiers 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 chrNW_004936524:3,660,364...3,663,664
Ensembl chrNW_004936524:3,660,454...3,663,696 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,705,112...2,711,557
Ensembl chrNW_004936524:2,705,121...2,711,557 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,133,288...3,144,726
Ensembl chrNW_004936524:3,133,288...3,140,193 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,672,393...3,678,630
Ensembl chrNW_004936524:3,672,541...3,678,433 		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:11207361 PMID:11940090 More... NCBI chrNW_004936524:3,657,094...3,659,851
Ensembl chrNW_004936524:3,657,170...3,659,821 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:4,143,238...4,145,183
Ensembl chrNW_004936524:4,143,347...4,145,113 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,765,271...2,767,259
Ensembl chrNW_004936524:2,765,267...2,767,385 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,787,963...2,789,116
Ensembl chrNW_004936524:2,788,341...2,789,016 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,743,106...2,743,759
Ensembl chrNW_004936524:2,743,068...2,743,746 		JBrowse link
G Cd72 CD72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,620,464...3,629,065
Ensembl chrNW_004936524:3,620,912...3,629,065 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,594,530...3,597,055
Ensembl chrNW_004936524:3,594,552...3,596,371 		JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:4,170,425...4,191,951
Ensembl chrNW_004936524:4,169,732...4,191,951 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,636,166...2,674,488
Ensembl chrNW_004936524:2,636,166...2,674,192 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,727,104...3,730,962
Ensembl chrNW_004936524:3,727,098...3,730,975 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,696,096...2,704,162
Ensembl chrNW_004936524:2,696,053...2,704,213 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,551,431...2,614,245
Ensembl chrNW_004936524:2,572,956...2,614,026 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,038,489...3,047,546
Ensembl chrNW_004936524:3,039,183...3,048,803 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,614,299...2,616,073
Ensembl chrNW_004936524:2,614,299...2,616,073 		JBrowse link
G Fam219a family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,494,954...2,550,992
Ensembl chrNW_004936524:2,492,634...2,551,147 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,103,912...3,110,246
Ensembl chrNW_004936524:3,104,176...3,109,779 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,726,795...2,730,049
Ensembl chrNW_004936524:2,726,749...2,730,564 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531 		JBrowse link
G Glipr2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:4,118,964...4,139,901
Ensembl chrNW_004936524:4,118,697...4,139,942 		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 chrNW_004936524:4,184,831...4,234,257
Ensembl chrNW_004936524:4,196,830...4,252,163 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,912,344...3,913,231
Ensembl chrNW_004936524:3,912,416...3,912,796 		JBrowse link
G Il11ra interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,732,477...2,743,044
Ensembl chrNW_004936524:2,735,507...2,742,660 		JBrowse link
G LOC101958294 histidine triad nucleotide-binding protein 2, mitochondrial ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,807,426...3,816,391
Ensembl chrNW_004936524:3,807,494...3,813,535
Ensembl chrNW_004936524:3,807,494...3,813,535 		JBrowse link
G LOC101971023 uncharacterized LOC101971023 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,743,047...2,747,684 JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,746,426...3,751,124
Ensembl chrNW_004936524:3,746,502...3,747,525 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,472,611...2,494,478
Ensembl chrNW_004936524:2,472,624...2,492,768
Ensembl chrNW_004936524:2,472,624...2,492,768 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,779,398...3,798,074
Ensembl chrNW_004936524:3,779,392...3,798,501 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,020,421...3,031,720
Ensembl chrNW_004936524:3,005,705...3,031,744 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,116,627...3,126,681
Ensembl chrNW_004936524:3,118,010...3,125,587 		JBrowse link
G Reck reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:4,021,666...4,099,703
Ensembl chrNW_004936524:4,021,660...4,099,705 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,742,590...3,746,371
Ensembl chrNW_004936524:3,742,596...3,750,742 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,692,179...2,694,461 JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,535,122...3,594,452
Ensembl chrNW_004936524:3,535,175...3,596,077 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,717,885...2,720,874
Ensembl chrNW_004936524:2,715,769...2,721,085 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,649,195...3,650,792
Ensembl chrNW_004936524:3,649,714...3,650,679 		JBrowse link
G Spaar small regulatory polypeptide of amino acid response ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,798,144...3,801,479
Ensembl chrNW_004936524:3,798,281...3,800,704 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,804,957...2,810,940 JBrowse link
G Spata31f3 SPATA31 subfamily F member 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:2,930,870...2,937,132 JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,074,901...3,079,980
Ensembl chrNW_004936524:3,075,250...3,079,233 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,129,149...3,132,405
Ensembl chrNW_004936524:3,129,148...3,133,056 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,615,933...3,620,384
Ensembl chrNW_004936524:3,615,927...3,621,474 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,693,679...3,727,055
Ensembl chrNW_004936524:3,693,679...3,727,098 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,816,524...3,840,959
Ensembl chrNW_004936524:3,816,490...3,843,349 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,679,719...3,687,828
Ensembl chrNW_004936524:3,679,560...3,688,308 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,320,859...3,369,865 JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466 		JBrowse link
anauxetic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chrNW_004936524:3,657,094...3,659,851
Ensembl chrNW_004936524:3,657,170...3,659,821 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936470:44,676,798...44,710,397
Ensembl chrNW_004936470:44,676,776...44,710,716 		JBrowse link
anauxetic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition OMIM
ClinVar		 PMID:21455487 PMID:25741868 PMID:27380734 PMID:28067412 PMID:28492532 More... NCBI chrNW_004936470:44,676,798...44,710,397
Ensembl chrNW_004936470:44,676,776...44,710,716 		JBrowse link
anauxetic dysplasia 3 term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:26633546 PMID:29620724 PMID:31250547 NCBI chrNW_004936536:641,085...655,177
Ensembl chrNW_004936536:638,961...655,159 		JBrowse link
Dyggve-Melchior-Clausen disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome OMIM
ClinVar		 PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:16199547 More... NCBI chrNW_004936497:13,476,376...13,816,515
Ensembl chrNW_004936497:13,476,326...13,818,059 		JBrowse link
Liberfarb Syndrome term browser
Symbol Object Name Qualifiers 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: PISD-related mitochondrial disease OMIM
ClinVar		 PMID:3561949 PMID:25741868 PMID:28492532 PMID:30488656 PMID:30858161 More... NCBI chrNW_004936755:665,416...767,597
Ensembl chrNW_004936755:712,278...767,728 		JBrowse link
metatropic dysplasia term browser
Symbol Object Name Qualifiers 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: Metatropic dysplasia OMIM
ClinVar		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More... NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516 		JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers 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 ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia OMIM
ClinVar		 PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More... NCBI chrNW_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047 		JBrowse link
Smith-McCort dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936497:13,476,376...13,816,515
Ensembl chrNW_004936497:13,476,326...13,818,059 		JBrowse link
G Rab33b RAB33B, member RAS oncogene family ISO ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar NCBI chrNW_004936535:8,167,567...8,183,105
Ensembl chrNW_004936535:8,167,551...8,183,111 		JBrowse link
Smith-McCort dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO ClinVar Annotator: match by term: DYM-related condition | ClinVar Annotator: match by term: Smith-McCort dysplasia 1 ClinVar
OMIM		 PMID:12491225 PMID:16097008 PMID:18996921 PMID:19005420 PMID:25741868 More... NCBI chrNW_004936497:13,476,376...13,816,515
Ensembl chrNW_004936497:13,476,326...13,818,059 		JBrowse link
Smith-McCort dysplasia 2 term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:16470731 PMID:22652534 PMID:23042644 PMID:25741868 PMID:28127940 More... NCBI chrNW_004936535:8,167,567...8,183,105
Ensembl chrNW_004936535:8,167,551...8,183,111 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity ClinVar PMID:23664117 PMID:25741868 PMID:28492532 NCBI chrNW_004936737:1,887,250...1,889,055
Ensembl chrNW_004936737:1,887,855...1,888,826 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chrNW_004936476:16,483,203...16,487,360
Ensembl chrNW_004936476:16,480,835...16,487,424 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chrNW_004936476:15,826,882...15,830,321
Ensembl chrNW_004936476:15,826,822...15,834,729 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures OMIM
ClinVar		 PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 More... NCBI chrNW_004936737:1,887,250...1,889,055
Ensembl chrNW_004936737:1,887,855...1,888,826 		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 chrNW_004936737:1,889,123...1,898,303
Ensembl chrNW_004936737:1,891,415...1,898,904 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chrNW_004936737:1,901,749...1,904,382 JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations OMIM
ClinVar		 PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 More... NCBI chrNW_004936501:12,670,717...12,683,999
Ensembl chrNW_004936501:12,670,172...12,684,571 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 3 term browser
Symbol Object Name Qualifiers 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:25741868 PMID:26669664 PMID:30284759 NCBI chrNW_004936491:16,056,059...16,633,405
Ensembl chrNW_004936491:16,055,503...16,633,428 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 susceptibility ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, MATN3-related ClinVar
OMIM		 PMID:14729835 PMID:15121775 PMID:15459972 PMID:20301302 PMID:21965141 More... NCBI chrNW_004936493:11,352,206...11,371,596
Ensembl chrNW_004936493:11,352,206...11,371,349 		JBrowse link
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type ClinVar PMID:25741868 NCBI chrNW_004936554:3,908,570...3,925,957
Ensembl chrNW_004936554:3,908,413...3,925,942 		JBrowse link
G Ufsp2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type OMIM
ClinVar		 PMID:21228277 PMID:25741868 PMID:28892125 PMID:32755715 NCBI chrNW_004936554:3,926,046...3,945,575
Ensembl chrNW_004936554:3,925,982...3,948,450 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:25741868 PMID:26365341 PMID:28492532 PMID:30063090 NCBI chrNW_004936475:9,294,421...9,338,372
Ensembl chrNW_004936475:9,294,340...9,340,268 		JBrowse link
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type OMIM
ClinVar		 PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chrNW_004936524:6,772,831...6,791,854
Ensembl chrNW_004936524:6,772,796...6,791,902 		JBrowse link
G Trim14 tripartite motif containing 14 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type ClinVar PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chrNW_004936524:6,797,788...6,816,582
Ensembl chrNW_004936524:6,797,762...6,816,607 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: ERI1-associated disorder | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Guo-Campeau type OMIM
ClinVar		 PMID:25741868 PMID:37352860 NCBI chrNW_004936573:1,448,325...1,474,753 JBrowse link
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:23956136 PMID:25741868 PMID:28492532 PMID:31630789 NCBI chrNW_004936641:437,684...441,257
Ensembl chrNW_004936641:437,731...440,999 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Krakow Type term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30232230 NCBI chrNW_004936542:2,119,423...2,357,533
Ensembl chrNW_004936542:2,117,349...2,357,539 		JBrowse link
spondyloepimetaphyseal dysplasia, Missouri type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: MMP13-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type OMIM
ClinVar		 PMID:8412645 PMID:16167086 PMID:25741868 PMID:28492532 PMID:30439533 NCBI chrNW_004936551:5,040,084...5,050,384
Ensembl chrNW_004936551:5,040,084...5,050,384 		JBrowse link
spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type OMIM
ClinVar		 PMID:9536098 PMID:9714015 PMID:9771708 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936735:1,437,108...1,516,382
Ensembl chrNW_004936735:1,436,153...1,516,378 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Shohat Type term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:8357004 PMID:25741868 PMID:28263186 PMID:28492532 NCBI chrNW_004936485:15,516,348...15,526,380
Ensembl chrNW_004936485:15,516,302...15,526,376 		JBrowse link
spondyloepimetaphyseal dysplasia, Sponastrime type term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: TONSL-related condition OMIM
ClinVar		 PMID:9536098 PMID:10797420 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936470:7,817,444...7,829,124 JBrowse link
spondyloepimetaphyseal dysplasia, Strudwick type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia OMIM
ClinVar		 PMID:1905723 PMID:7550321 PMID:7695699 PMID:7977371 PMID:8218237 More... NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:1677003 PMID:15666313 PMID:25741868 PMID:28492532 PMID:29100092 More... NCBI chrNW_004936586:1,708,803...1,773,372
Ensembl chrNW_004936586:1,708,684...1,773,383 		JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:28492532 NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516 		JBrowse link
spondylometaepiphyseal dysplasia, short limb-hand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome OMIM
ClinVar		 PMID:8434618 PMID:8818447 PMID:11375938 PMID:19110212 PMID:20223752 More... NCBI chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139 		JBrowse link
X-linked spondyloepimetaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia ClinVar PMID:7825602 PMID:7849723 PMID:8040304 PMID:8651290 PMID:9088111 More... NCBI chrNW_004936809:615,133...634,618
Ensembl chrNW_004936809:615,139...635,990 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia OMIM
ClinVar		 PMID:8064814 PMID:25741868 PMID:27236923 PMID:28492532 NCBI chrNW_004936809:375,589...389,718
Ensembl chrNW_004936809:375,543...389,756 		JBrowse link
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chrNW_004936479:1,441,508...1,477,133
Ensembl chrNW_004936479:1,441,437...1,478,107 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy ClinVar PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chrNW_004936479:1,425,765...1,437,338
Ensembl chrNW_004936479:1,425,722...1,437,374 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      bone development disease 2182
        osteochondrodysplasia 832
          spondyloepimetaphyseal dysplasia 85
            Dyggve-Melchior-Clausen disease + 2
            Liberfarb Syndrome 1
            SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 2
            Schimke immuno-osseous dysplasia 1
            Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 0
            Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
            Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type 1
            Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
            Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type 1
            Spondyloepimetaphyseal Dysplasia, Irapa Type 0
            Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 1
            Spondyloepimetaphyseal Dysplasia, Krakow Type 1
            Spondyloepimetaphyseal Dysplasia, Shohat Type 1
            X-linked spondyloepimetaphyseal dysplasia + 4
            anauxetic dysplasia + 53
            metatropic dysplasia 1
            spondyloepimetaphyseal dysplasia with joint laxity + 7
            spondyloepimetaphyseal dysplasia, Genevieve-type 2
            spondyloepimetaphyseal dysplasia, Missouri type 1
            spondyloepimetaphyseal dysplasia, Pakistani type 1
            spondyloepimetaphyseal dysplasia, Sponastrime type 1
            spondyloepimetaphyseal dysplasia, Strudwick type 3
            spondylometaepiphyseal dysplasia, short limb-hand type 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2182
              osteochondrodysplasia 832
                spondyloepimetaphyseal dysplasia 85
                  Dyggve-Melchior-Clausen disease + 2
                  Liberfarb Syndrome 1
                  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 2
                  Schimke immuno-osseous dysplasia 1
                  Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 0
                  Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
                  Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type 1
                  Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
                  Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type 1
                  Spondyloepimetaphyseal Dysplasia, Irapa Type 0
                  Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 1
                  Spondyloepimetaphyseal Dysplasia, Krakow Type 1
                  Spondyloepimetaphyseal Dysplasia, Shohat Type 1
                  X-linked spondyloepimetaphyseal dysplasia + 4
                  anauxetic dysplasia + 53
                  metatropic dysplasia 1
                  spondyloepimetaphyseal dysplasia with joint laxity + 7
                  spondyloepimetaphyseal dysplasia, Genevieve-type 2
                  spondyloepimetaphyseal dysplasia, Missouri type 1
                  spondyloepimetaphyseal dysplasia, Pakistani type 1
                  spondyloepimetaphyseal dysplasia, Sponastrime type 1
                  spondyloepimetaphyseal dysplasia, Strudwick type 3
                  spondylometaepiphyseal dysplasia, short limb-hand type 1
paths to the root