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ONTOLOGY REPORT - ANNOTATIONS


Term:Schwartz-Jampel syndrome 1
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Accession:DOID:0090005 term browser browse the term
Definition:An autosomal recessive disease 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
 alt_id: RDO:9002945
 xref: GARD:250;   ORDO:800
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Schwartz-Jampel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:7240710
RGD:8554872
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 JBrowse link 5 155,914,517 155,922,269 RGD:8554872

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Path 1
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  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          Schwartz-Jampel syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                Schwartz-Jampel syndrome 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.