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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:salt and pepper syndrome
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Accession:DOID:0060470 term browser browse the term
Definition:A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2. (DO)
Synonyms:exact_synonym: Amish infantile epilepsy syndrome;   GM3 Synthase Deficiency;   INFANTILE EPILEPSY SYNDROME;   SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME;   SPDRS;   infantile-onset symptomatic epilepsy syndrome;   salt & pepper syndrome;   salt and pepper mental retardation syndrome
 primary_id: MESH:C563799
 alt_id: MIM:609056
 xref: NCI:C206525;   ORDO:370938


show annotations for term's descendants           Sort by:
salt and pepper syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 ISO ClinVar Annotator: match by term: GM3 synthase deficiency ClinVar PMID:25741868 NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479 		JBrowse link
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: GM3 synthase deficiency ClinVar PMID:28492532 NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020 		JBrowse link
G Sema5a semaphorin 5A ISO ClinVar Annotator: match by term: Infantile epilepsy syndrome ClinVar PMID:25741868 NCBI chr 2:83,309,843...83,741,084
Ensembl chr 2:83,309,843...83,741,084 		JBrowse link
G St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ISO ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Salt and pepper developmental regression syndrome
ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15502825 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 4:104,134,613...104,192,558
Ensembl chr 4:104,134,613...104,192,558 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:19557857 PMID:20887364 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Infantile epilepsy syndrome ClinVar PMID:23161826 PMID:23708187 PMID:25418537 PMID:25741868 PMID:26989088 More... NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      salt and pepper syndrome 6
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10822
            autosomal genetic disease 10303
              autosomal recessive disease 6945
                salt and pepper syndrome 6
paths to the root