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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:Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
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Accession:DOID:9002035 term browser browse the term
Synonyms:exact_synonym: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS;   SDCHCN;   Stomatin-Deficient Cryohydrocytosis with Neurologic Defects
 primary_id: MESH:C563840
 alt_id: OMIM:608885


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Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129930369 ATAC-STARR-seq lymphoblastoid silent region 772 IAGP ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS ClinVar PMID:25741868 PMID:28492532
G SLC2A1 solute carrier family 2 member 1 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects
ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS
ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:10980529 PMID:11477212 PMID:12325075 PMID:15622525 More... NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC2A1-DT SLC2A1 divergent transcript IAGP ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS ClinVar PMID:25741868 NCBI chr 1:42,959,049...42,983,358
Ensembl chr 1:42,959,049...42,996,814 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    Developmental Disease 28609
      Neurodevelopmental Disorders 13579
        intellectual disability 7177
          Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 3
Path 2
Term Annotations click to browse term
  disease 35753
    disease of anatomical entity 32492
      nervous system disease 26372
        Neurologic Manifestations 15410
          sensory system disease 9759
            eye disease 4962
              visual pathway disease 389
                visual cortex disease 386
                  visual epilepsy 386
                    Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 3
paths to the root