Preferred Name |
Donohue Syndrome |
|
Synonyms |
|
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Donohue_Syndrome |
|
DEFINITION |
A rare autosomal recessive genetic disorder caused by mutations in the insulin receptor gene. Signs and symptoms include a characteristic facial appearance (protuberant and low-set ears, thick lips, and flaring nostrils), intrauterine growth retardation, insulin resistance, and enlarged genitalia. |
|
label |
Donohue Syndrome |
|
prefixIRI |
Thesaurus:Donohue_Syndrome |
|
prefLabel |
Donohue Syndrome |
|
subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |
Create mapping