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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 SYNDROME;   Leprechaunism
 related_synonym: LEPRECHAUNISM INSULIN RECEPTOR, DEFECT IN;   defect in insulin receptor
 primary_id: MESH:D056731
 alt_id: MESH:C562709;   OMIM:246200
 xref: NCI:C131000;   NCI:C84676;   ORDO:508
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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 16022
    syndrome 6143
      Donohue syndrome 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal recessive disease 2386
                Donohue syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.