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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 4
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Accession:DOID:0070215 term browser browse the term
Definition:A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. (DO)
Synonyms:exact_synonym: HHF4;   hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency;   hyperinsulinism due to SCHAD deficiency;   hyperinsulinism due to glutamodehydrogenase deficiency;   hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
 primary_id: MESH:C566493
 alt_id: OMIM:609975
 xref: GARD:2819;   ORDO:71212


show annotations for term's descendants           Sort by:
familial hyperinsulinemic hypoglycemia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:904979 PMID:8825408 PMID:11489939 PMID:14693719 PMID:16725361 More... NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency ClinVar PMID:2002058 PMID:2211730 PMID:2983222 PMID:7042734 PMID:8257688 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      hyperinsulinism 640
        Congenital Hyperinsulinism 58
          hyperinsulinemic hypoglycemia 55
            familial hyperinsulinemic hypoglycemia 4 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          inherited metabolic disorder 6257
            carbohydrate metabolic disorder 3309
              glucose metabolism disease 2114
                hyperinsulinism 640
                  Congenital Hyperinsulinism 58
                    hyperinsulinemic hypoglycemia 55
                      familial hyperinsulinemic hypoglycemia 4 2
paths to the root