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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Id | http://purl.bioontology.org/ontology/NDFRT/N0000181087
http://purl.bioontology.org/ontology/NDFRT/N0000181087
|
|---|---|
| Preferred Name | Donohue Syndrome [Disease/Finding] |
| Synonyms |
Donohue Syndrome
Leprechaunism
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Donohue Syndrome
Leprechaunism
|
|---|---|
| prefLabel |
Donohue Syndrome [Disease/Finding]
|
| notation |
N0000181087
|
| MESH 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.
|
| MESH UI |
M0528899
|
| subClassOf | |
| Semantic type UMLS property | |
| MeSH name |
Donohue Syndrome
|
| NDFRT kind |
DISEASE_KIND
|
| type | |
| tui |
T047
|
| NUI |
N0000181087
|
| cui |
C0265344
|
| MESH DUI |
D056731
|
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