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
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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

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  disease 14875
    syndrome 4220
      salt and pepper syndrome 2
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                salt and pepper syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.