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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;   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
 primary_id: OMIM:255800
 xref: GARD:250;   NCI:C35008;   ORDO:800
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Schwartz-Jampel syndrome
ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
ClinVar Annotator: match by term: Schwartz-Jampel Syndrome
OMIM
ClinVar
PMID:11038441 PMID:11101850 PMID:11279527 PMID:11941538 PMID:16199547 More... NCBI chr 5:149,677,437...149,778,594 JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1
ClinVar Annotator: match by term: Schwartz-Jampel syndrome
ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Schwartz-Jampel syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal recessive disease 3443
                Schwartz-Jampel syndrome 1 2
paths to the root