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 12 1,682,527 1,816,414 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      Donohue syndrome 1
        Insulin Receptor, Defect in 0
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                Donohue syndrome 1
                  Insulin Receptor, Defect in 0
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