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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:SEDOHEPTULOKINASE DEFICIENCY
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Accession:DOID:9001808 term browser browse the term
Definition:An autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. (OMIM)
Synonyms:exact_synonym: ISOLATED SEDOHEPTULOKINASE DEFICIENCY;   SHPKD
 broad_synonym: SHPK-related condition
 xref: MIM:617213;   MONDO:0014969


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SEDOHEPTULOKINASE DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Isolated sedoheptulokinase deficiency | ClinVar Annotator: match by term: SHPK-related condition OMIM
ClinVar		 PMID:25647543 PMID:25741868 PMID:28492532 NCBI chr10:58,316,065...58,340,489
Ensembl chr10:58,316,111...58,340,490 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        inherited metabolic disorder 3387
          SEDOHEPTULOKINASE DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        genetic disease 7261
          inherited metabolic disorder 3387
            SEDOHEPTULOKINASE DEFICIENCY 1
paths to the root