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loading...| Preferred Name |
Donohue Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84676 |
| code |
C84676 |
| 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. |
| FULL_SYN |
Leprechaunism |
| label |
Donohue Syndrome |
| Preferred_Name |
Donohue Syndrome |
| prefixIRI |
C84676 |
| prefLabel |
Donohue Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0265344 |
| subClassOf |