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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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14206
    Developmental Disease 12386
      Neurodevelopmental Disorders 6202
        intellectual disability 3927
          Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
Path 2
Term Annotations click to browse term
  disease 14206
    disease of anatomical entity 13864
      nervous system disease 12142
        Neurologic Manifestations 8902
          sensory system disease 6238
            eye disease 3181
              visual pathway disease 321
                visual cortex disease 318
                  visual epilepsy 318
                    Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
paths to the root