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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    syndrome 4210
      Donohue syndrome 1
        Insulin Receptor, Defect in 0
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal recessive disease 1250
                Donohue syndrome 1
                  Insulin Receptor, Defect in 0
paths to the root