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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:familial hyperinsulinemic hypoglycemia 7
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Accession:DOID:0070214 term browser browse the term
Definition:A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. (DO)
Synonyms:exact_synonym: EIHI;   HHF7;   exercise-induced hyperinsulinemic hypoglycemia;   exercise-induced hyperinsulinism;   hyperinsulinism due to SLC16A1 deficiency;   hyperinsulinism due to monocarboxylate transporter 1 deficiency
 primary_id: MESH:C538376
 alt_id: OMIM:610021
 xref: GARD:9932;   NCI:C131839;   ORDO:165991


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familial hyperinsulinemic hypoglycemia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11207177 PMID:17701893 PMID:18414213 PMID:19881260 PMID:25371203 More... NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      hyperinsulinism 597
        Congenital Hyperinsulinism 12
          hyperinsulinemic hypoglycemia 9
            familial hyperinsulinemic hypoglycemia 7 1
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          inherited metabolic disorder 6213
            carbohydrate metabolic disorder 3268
              glucose metabolism disease 2073
                hyperinsulinism 597
                  Congenital Hyperinsulinism 12
                    hyperinsulinemic hypoglycemia 9
                      familial hyperinsulinemic hypoglycemia 7 1
paths to the root