Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:insulin_receptor
|
| gptkbp:causedBy |
mutation in INSR gene
|
| gptkbp:firstDescribed |
1956
|
| https://www.w3.org/2000/01/rdf-schema#label |
Rabson-Mendenhall syndrome
|
| gptkbp:ICD-10_code |
E34.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
gptkb:Donald_Mendenhall
gptkb:Stanley_Rabson |
| gptkbp:OMIM |
262190
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
gptkb:acanthosis_nigricans
growth retardation severe insulin resistance dental abnormalities enlarged genitalia pineal hyperplasia |
| gptkbp:synonym |
gptkb:Insulin_receptor_disorder_type_A
gptkb:Leprechaunism,_partial |
| gptkbp:treatment |
supportive care
insulin therapy |
| gptkbp:bfsParent |
gptkb:Insulin_receptor
|
| gptkbp:bfsLayer |
6
|