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Term:salt and pepper syndrome
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Accession:DOID:0060470 term browser browse the term
Definition:An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. (DO)
Synonyms:exact_synonym: Amish Infantile Epilepsy Syndrome;   Epilepsy Syndrome, Infantile-Onset Symptomatic;   GM3 Synthase Deficiency;   SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME;   SALT AND PEPPER MENTAL RETARDATION SYNDROME;   SPDRS;   salt & pepper syndrome
 primary_id: MESH:C563799;   RDO:0012966
 alt_id: OMIM:609056
 xref: ORDO:370938
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salt and pepper syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn2 ataxin 2 JBrowse link 12 40,264,601 40,335,637 RGD:8554872
G St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 JBrowse link 4 99,937,499 99,999,905 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      salt and pepper syndrome 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
                salt and pepper syndrome 2
paths to the root


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