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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:11941538, PMID:16927315, PMID:17213231, PMID:20080505, PMID:20644199, PMID:24088041, PMID:24781210, PMID:24912484, PMID:25504735, PMID:25741868, PMID:25803036, PMID:26467025, PMID:26508570, PMID:26633545, PMID:27268795, PMID:27521129, PMID:27766954, PMID:28242392, PMID:28492532, PMID:29271572, PMID:29901129, PMID:30311386 NCBI chr 5:155,812,096...155,913,751 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 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Schwartz-Jampel syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                Schwartz-Jampel syndrome 1 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.