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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:Schwartz-Jampel syndrome 1
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Accession:DOID:0090005 term browser browse the term
Definition:A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: Aberfeld syndrome;   Burton skeletal dysplasia;   Burton syndrome;   Catel-Hempel syndrome;   Catel-Hempel type dysostosis enchondralis metaepiphysaria;   Kniest-like dysplasia with pursed lips and ectopia lentis;   SJS;   SJS1;   Schwartz Jampel syndrome;   Schwartz-Jampel syndrome, type 1;   Schwartz-Jampel-Aberfeld syndrome;   myotonic chondrodystrophy;   myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies;   osteochondromuscular dystrophy
 broad_synonym: HSPG2-RELATED CONDITION;   HSPG2-RELATED DISORDER
 related_synonym: QUALITATIVE OR QUANTITATIVE DEFECTS OF PERLECAN;   QUALITATIVE OR QUANTITATIVE DEFECTS OF PLECTIN
 primary_id: OMIM:255800
 alt_id: DOID:9000985;   MESH:C565452;   OMIM:245160
 xref: GARD:250;   NCI:C35008;   ORDO:800


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Schwartz-Jampel syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPG2 heparan sulfate proteoglycan 2 IAGP
ISS		 ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Schwartz-Jampel syndrome
ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1
ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1
OMIM:255800		 OMIM
ClinVar
MouseDO		 PMID:11038441 PMID:11101850 PMID:11279527 PMID:11941538 PMID:16199547 More... NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 IAGP ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1
ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Schwartz-Jampel syndrome
ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1		 ClinVar PMID:11038441 PMID:11941538 PMID:25504735 PMID:25741868 PMID:26467025 More... NCBI chr 1:21,812,265...21,825,225
Ensembl chr 1:21,812,265...21,825,225 		JBrowse link
G LOC126805655 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:22178409-22179608 IAGP ClinVar Annotator: match by term: Schwartz-Jampel syndrome
ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1
ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Schwartz-Jampel syndrome		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29302074 NCBI chr 1:21,851,916...21,853,115 JBrowse link
G PLEC plectin IAGP ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin ClinVar PMID:25741868 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Schwartz-Jampel syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9730
            eye disease 4942
              lens disease 594
                lens subluxation 19
                  Ectopia Lentis 18
                    Schwartz-Jampel syndrome 1 4
paths to the root