Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alternativeName |
Noonan syndrome 1
|
| gptkbp:associatedWith |
deafness
hypertrophic cardiomyopathy cardiac abnormalities facial dysmorphism multiple lentigines |
| gptkbp:firstDescribed |
2007
|
| https://www.w3.org/2000/01/rdf-schema#label |
LEOPARD syndrome 2
|
| gptkbp:includesGroup |
gptkb:RASopathies
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:RAF1_gene
|
| gptkbp:OMIM |
611554
|
| gptkbp:symptom |
skeletal abnormalities
growth retardation genital anomalies cafe-au-lait spots |
| gptkbp:bfsParent |
gptkb:v-raf_murine_sarcoma_151_oncogene_homolog
|
| gptkbp:bfsLayer |
7
|