ONTOLOGY REPORT - ANNOTATIONS


Term:Donohue syndrome
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Accession:DOID:0050470 term browser browse the term
Definition:Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.
Synonyms:exact_synonym: Leprechaunism;   Mendenhall syndrome;   Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities;   Rabson Mendenhall syndrome
 narrow_synonym: LEPRECHAUNISM INSULIN RECEPTOR, DEFECT IN
 primary_id: MESH:D056731
 alt_id: OMIM:246200;   OMIM:262190;   RDO:0007753
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Donohue syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INSR insulin receptor JBrowse link 19 7,255,444 7,411,916 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11205
    syndrome 4215
      Donohue syndrome 1
        Insulin Receptor, Defect in 0
Path 2
Term Annotations click to browse term
  disease 11205
    Developmental Diseases 7256
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6620
        genetic disease 6023
          monogenic disease 3056
            autosomal genetic disease 2044
              autosomal recessive disease 1206
                Donohue syndrome 1
                  Insulin Receptor, Defect in 0
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