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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 SIAT9 on chromosome 2p11.2. (DO)
Synonyms:exact_synonym: Amish infantile epilepsy syndrome;   Epilepsy Syndrome, Infantile-Onset Symptomatic;   GM3 Synthase Deficiency;   SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME;   SPDRS;   salt & pepper syndrome;   salt and pepper mental retardation syndrome
 primary_id: MESH:C563799
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 ISO ClinVar Annotator: match by term: Amish infantile epilepsy syndrome ClinVar PMID:25741868 NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
JBrowse link
G St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ISO ClinVar Annotator: match by OMIM:609056
ClinVar Annotator: match by term: Salt and pepper developmental regression syndrome
ClinVar Annotator: match by term: Amish infantile epilepsy syndrome
ClinVar
OMIM
PMID:15502825, PMID:18414213, PMID:22990144, PMID:23436467, PMID:24026681, PMID:25741868, PMID:26467025, PMID:26649472, PMID:27232954, PMID:28492532 NCBI chr 4:99,937,499...99,999,905
Ensembl chr 4:99,937,558...99,999,902
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      salt and pepper syndrome 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                salt and pepper syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.