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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:Stuve-Wiedemann Syndrome 1
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Accession:DOID:9008909 term browser browse the term
Synonyms:exact_synonym: SCHWARTZ-JAMPEL SYNDROME, NEONATAL;   SCHWARTZ-JAMPEL SYNDROME, TYPE 2;   SJS2;   STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME;   STWS;   STWS1;   STÜVE-WIEDEMANN SYNDROME 1;   SWS;   Schwartz Jampel syndrome neonatal;   Stüve-Wiedemann syndrome
 primary_id: MESH:C537502
 alt_id: OMIM:601559

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Stuve-Wiedemann Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624764:6,639,152...6,736,161
Ensembl chrNW_004624764:6,640,087...6,708,130 		JBrowse link
G G HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:110,693,858...110,809,467
Ensembl chr20:110,693,854...110,809,466 		JBrowse link
G P HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334 		JBrowse link
G S Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851 		JBrowse link
G D HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724 		JBrowse link
G B HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400 		JBrowse link
G C Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280 		JBrowse link
G R Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G M Hspg2 perlecan (heparan sulfate proteoglycan 2) ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941 		JBrowse link
G H HSPG2 heparan sulfate proteoglycan 2 IAGP ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G N Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chrNW_004624759:16,368,390...16,478,486
Ensembl chrNW_004624759:16,410,687...16,472,014 		JBrowse link
G G LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 4:37,307,753...37,385,489
Ensembl chr 4:37,314,347...37,362,137 		JBrowse link
G S Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chrNW_004936518:3,651,630...3,693,072
Ensembl chrNW_004936518:3,652,152...3,693,078 		JBrowse link
G D LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127 		JBrowse link
G B LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 5:71,817,431...71,899,101
Ensembl chr 5:76,878,633...76,928,267 		JBrowse link
G C Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chrNW_004955426:23,045,867...23,093,694
Ensembl chrNW_004955426:23,047,167...23,116,891 		JBrowse link
G R Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699 		JBrowse link
G M Lifr LIF receptor alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr15:7,120,091...7,226,970
Ensembl chr15:7,120,095...7,226,970 		JBrowse link
G H LIFR LIF receptor subunit alpha IAGP
EXP		 ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G P LOC102167255 leukemia inhibitory factor receptor ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr16:23,627,700...23,672,724
Ensembl chr16:23,634,298...23,804,854 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 175444
    syndrome 107879
      Stuve-Wiedemann Syndrome 62
        Stuve-Wiedemann Syndrome 1 20
Path 2
Term Annotations click to browse term
  disease 175444
    disease of anatomical entity 168431
      musculoskeletal system disease 81032
        connective tissue disease 54829
          bone disease 40283
            bone development disease 23448
              osteochondrodysplasia 8890
                Osteochondroma 276
                  Osteochondromatosis 266
                    hereditary multiple exostoses 266
                      Stuve-Wiedemann Syndrome 62
                        Stuve-Wiedemann Syndrome 1 20
paths to the root