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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: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;   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 15992
    syndrome 6097
      Schwartz-Jampel syndrome 1 2
Path 2
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  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal recessive disease 2338
                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.