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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:7240710
RGD:11554173

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  disease 14759
    syndrome 4210
      salt and pepper syndrome 2
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal recessive disease 1250
                salt and pepper syndrome 2
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