Jump to:
loading...| Preferred Name |
Donohue Syndrome [Disease/Finding] |
|
| Synonyms |
Donohue Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181087 |
|
| altLabel |
Donohue Syndrome Leprechaunism |
|
| cui |
C0265344 |
|
| 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 DUI |
D056731 |
|
| MeSH name |
Donohue Syndrome |
|
| MESH UI |
M0528899 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000181087 |
|
| NUI |
N0000181087 |
|
| prefLabel |
Donohue Syndrome [Disease/Finding] |
|
| tui |
T047 |
|
| subClassOf |
Create mapping