FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Donohue syndrome ID (Ontology) DOID:0050470 (Human Disease)
Definition A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
Also Known As "Leprechaunism"
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DO.org
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Donohue syndrome       3      1
 for disease ribbon | Donohue syndrome       3       --
 model of | Donohue syndrome       3       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Donohue syndrome  4 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "Leprechaunism" EXACT
Secondary IDs
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MESH:D056731
MIM:246200
NCI:C131000
NCI:C84676
ORDO:508
SNOMEDCT_US_2023_03_01:111307005
SNOMEDCT_US_2023_03_01:33559001
UMLS_CUI:C0265344
UMLS_CUI:C0271695