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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


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 Col2a1 collagen, type II, alpha 1 IAGP MouseDO NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Ddr2 discoidin domain receptor family, member 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331 		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:25741868 PMID:31630789 NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983 		JBrowse link
anauxetic dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,496,139...43,508,747
Ensembl chr 4:43,496,142...43,499,695 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,723,830...41,731,226
Ensembl chr 4:41,723,836...41,731,142 		JBrowse link
G Atosb atos homolog 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 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:11207361 PMID:11940090 More... NCBI chr 4:43,493,365...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 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577 		JBrowse link
G Ccl21a C-C motif chemokine ligand 21 (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 C-C motif chemokine ligand 27A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,769,467...41,774,251
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...43,454,708
Ensembl chr 4:43,446,462...43,454,628 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,427,014...43,431,451
Ensembl chr 4:43,427,019...43,429,134 		JBrowse link
G Clta clathrin light chain A 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 Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,657,498...41,697,091
Ensembl chr 4:41,657,498...41,697,089 		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 Dctn3 dynactin 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,714,798...41,723,213
Ensembl chr 4:41,714,798...41,723,170 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158 		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 4:42,949,866...42,959,425
Ensembl chr 4:42,949,814...42,959,425 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,638,144...41,640,302
Ensembl chr 4:41,638,144...41,640,324 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,517,691...41,569,538
Ensembl chr 4:41,517,691...41,569,538 		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...43,010,565
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...43,578,893
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 subunit alpha 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 Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,495,601...41,503,132
Ensembl chr 4:41,495,604...41,503,076 		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 Or13c7 olfactory receptor family 13 subfamily C member 7 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 Or13j1 olfactory receptor family 13 subfamily J member 1 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 4:42,872,619...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 4:43,016,964...43,026,369
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:8034306 PMID:9156319 PMID:10026268 PMID:11152140 PMID:11207361 More... NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058
Ensembl chr 4:43,492,788...43,493,058 		JBrowse link
G Rpp25l ribonuclease P/MRP 25 subunit-like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,712,033...41,713,517
Ensembl chr 4:41,712,033...41,713,534 		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...43,427,088
Ensembl chr 4:43,381,979...43,427,088 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157 		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 4:43,730,045...43,732,084
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 Spata31f1a spermatogenesis associated 31 subfamily F member 1A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,848,067...42,856,138
Ensembl chr 4:42,848,071...42,853,888
Ensembl chr 4:42,848,071...42,853,888 		JBrowse link
G Spata31f3 spermatogenesis associated 31 subfamily F member 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,867,999...42,874,234
Ensembl chr 4:42,868,004...42,874,234 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 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 Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,505,005...41,517,333
Ensembl chr 4:41,505,009...41,517,333 		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...43,031,402
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: Spondylometaepiphyseal dysplasia Menger type ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 4:43,493,365...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 chr15:34,495,457...34,530,799
Ensembl chr15:34,495,450...34,530,794 		JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Anauxetic dysplasia 1 | ClinVar Annotator: match by term: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE | ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8034306 PMID:8723091 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058
Ensembl chr 4:43,492,788...43,493,058 		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 Annotator: match by term: POP1-related condition OMIM
ClinVar		 PMID:21455487 PMID:25741868 PMID:27380734 PMID:28067412 PMID:28492532 More... NCBI chr15:34,495,457...34,530,799
Ensembl chr15:34,495,450...34,530,794 		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 OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:26633546 PMID:29620724 PMID:31250547 NCBI chr16:44,544,645...44,559,994
Ensembl chr16:44,544,664...44,557,647 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:16199547 More... NCBI chr18:75,151,772...75,420,037
Ensembl chr18:75,151,852...75,420,035 		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: PISD-related mitochondrial disease OMIM
ClinVar		 PMID:3561949 PMID:25741868 PMID:28492532 PMID:30488656 PMID:30858161 More... NCBI chr 5:32,893,645...32,943,008
Ensembl chr 5:32,893,645...32,942,990 		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: Metatropic dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More... NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		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
IAGP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
OMIM:242900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More... RGD:1599053 NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293 		JBrowse link
Smith-McCort dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin IAGP
ISO		 OMIM:607326 | OMIM:615222
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Smith-McCort dysplasia		 MouseDO
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr18:75,151,772...75,420,037
Ensembl chr18:75,151,852...75,420,035 		JBrowse link
G Rab33b RAB33B, member RAS oncogene family ISO ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar NCBI chr 3:51,391,387...51,403,649
Ensembl chr 3:51,391,341...51,403,653 		JBrowse link
Smith-McCort dysplasia 1 term browser
Symbol Object Name 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 chr18:75,151,772...75,420,037
Ensembl chr18:75,151,852...75,420,035 		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
IAGP		 OMIM:615222
ClinVar Annotator: match by term: Smith-McCort dysplasia 2		 OMIM
MouseDO
ClinVar		 PMID:16470731 PMID:22652534 PMID:23042644 PMID:25741868 PMID:28127940 More... NCBI chr 3:51,391,387...51,403,649
Ensembl chr 3:51,391,341...51,403,653 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity 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 ClinVar PMID:23664117 PMID:25741868 PMID:28492532 NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106 		JBrowse link
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980 		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 chr17:45,874,844...45,878,597
Ensembl chr17:45,874,800...45,878,597 		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 fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 More... NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106 		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 4:156,077,300...156,098,067
Ensembl chr 4:156,077,329...156,098,067 		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 4:156,098,049...156,101,070
Ensembl chr 4:156,098,300...156,101,069 		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: 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 chr 7:126,626,901...126,641,639
Ensembl chr 7:126,626,901...126,641,643 		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:25741868 PMID:26669664 PMID:30284759 NCBI chr 6:84,595,468...85,046,524
Ensembl chr 6:84,595,469...85,046,495 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, MATN3-related
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:14729835 PMID:15121775 PMID:15459972 PMID:20301302 PMID:21965141 More... NCBI chr12:8,997,929...9,022,028
Ensembl chr12:8,997,929...9,022,028 		JBrowse link
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE term browser
Symbol Object Name 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 chr 8:46,387,980...46,428,290
Ensembl chr 8:46,406,643...46,428,477 		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 chr 8:46,428,551...46,449,995
Ensembl chr 8:46,428,565...46,449,995 		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 OMIM
ClinVar		 PMID:25741868 PMID:26365341 PMID:28492532 PMID:30063090 NCBI chr 8:95,328,569...95,386,905
Ensembl chr 8:95,328,565...95,386,903 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type		 OMIM
CTD
ClinVar		 PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 4:46,489,319...46,503,439
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:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 4:46,505,072...46,536,148
Ensembl chr 4:46,493,781...46,536,141 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type term browser
Symbol Object Name 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 chr 8:35,932,419...35,962,687
Ensembl chr 8:35,932,407...35,963,350 		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 OMIM
ClinVar		 PMID:23956136 PMID:25741868 PMID:28492532 PMID:31630789 NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30232230 NCBI chr 9:45,924,099...46,135,492
Ensembl chr 9:45,924,118...46,135,492 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MMP13-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type		 OMIM
CTD
ClinVar		 PMID:8412645 PMID:16167086 PMID:25741868 PMID:28492532 PMID:30439533 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
IAGP		 ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type
CTD Direct Evidence: marker/mechanism
OMIM:612847		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:9714015 PMID:9771708 PMID:16199547 PMID:17576681 More... NCBI chr19:32,573,072...32,644,587
Ensembl chr19:32,573,190...32,644,587 		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 OMIM
ClinVar		 PMID:8357004 PMID:25741868 PMID:28263186 PMID:28492532 NCBI chr 2:130,495,955...130,506,549
Ensembl chr 2:130,495,880...130,506,579 		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 | ClinVar Annotator: match by term: TONSL-related condition OMIM
ClinVar		 PMID:9536098 PMID:10797420 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr15:76,510,437...76,524,129
Ensembl chr15:76,510,202...76,524,158 		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: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1905723 PMID:7550321 PMID:7695699 PMID:7977371 PMID:8218237 More... NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		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 chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359 		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 chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		JBrowse link
spondylometaepiphyseal dysplasia, short limb-hand type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor family, member 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8434618 PMID:8818447 PMID:11375938 PMID:19110212 PMID:20223752 More... NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331 		JBrowse link
X-linked spondyloepimetaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP-binding cassette, sub-family 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 chr  X:72,760,203...72,782,140
Ensembl chr  X:72,760,203...72,782,140 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8064814 PMID:25741868 PMID:27236923 PMID:28492532 NCBI chr  X:72,527,207...72,539,542
Ensembl chr  X:72,527,208...72,539,539 		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: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		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 chr  X:47,602,540...47,619,112
Ensembl chr  X:47,608,162...47,619,109 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Developmental Disease 17910
      bone development disease 2296
        osteochondrodysplasia 864
          spondyloepimetaphyseal dysplasia 90
            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 + 58
            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 18300
    disease of anatomical entity 15630
      musculoskeletal system disease 7928
        connective tissue disease 5393
          bone disease 3899
            bone development disease 2296
              osteochondrodysplasia 864
                spondyloepimetaphyseal dysplasia 90
                  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 + 58
                  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