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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 ISO
ISS
OMIM:255800
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
MouseDO
ClinVar
PMID:11038441 PMID:11101850 PMID:11279527 PMID:11941538 PMID:16199547 More... NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO 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 PMID:11038441 PMID:11941538 PMID:25504735 PMID:25741868 PMID:26467025 More... NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin ClinVar PMID:25741868 NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Schwartz-Jampel syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              lens disease 456
                lens subluxation 8
                  Ectopia Lentis 7
                    Schwartz-Jampel syndrome 1 3
paths to the root