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DOID DOID:0050470
Name Donohue syndrome
Definition An autosomal recessive disease 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.
https://en.wikipedia.org/wiki/Donohue_syndrome
Xrefs

MESH:D056731

NCI:C131000

NCI:C84676

OMIM:246200

SNOMEDCT_US_2018_03_01:33559001

UMLS_CUI:C0265344

UMLS_CUI:C0271695

Subsets

NCIthesaurus

Synonyms

Leprechaunism [EXACT]

Relationships

is_a autosomal recessive disease

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