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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:Rare genetic endocrine disease
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Accession:EFO:Orphanet:156638 term browser browse the term
Synonyms:external_ontology: has_disease_location EFO:UBERON:0000949



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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          endocrine system disease 0
            Rare genetic endocrine disease 0
              Familial partial lipodystrophy due to AKT2 mutations 0
              Familial partial lipodystrophy, Köbberling type 0
              Genetic disorder of sex development + 0
              Genetic obesity + 0
              Genetic polyendocrinopathy + 0
              Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 0
              Lipodystrophy - intellectual disability - deafness 0
              Non-acquired premature ovarian failure + 0
              Rare disorder with hypergonadotropic hypogonadism + 0
              Rare dyslipidemia + 0
              Rare genetic adrenal disease + 0
              Rare genetic diabetes mellitus + 0
              Rare genetic hypothalamic or pituitary disease + 0
              Rare genetic parathyroid disease and phosphocalcic metabolism disorder + 0
              Rare genetic thyroid disease + 0
              acromegaly 0
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