Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skin
cardiovascular system endocrine system auditory system |
| gptkbp:alsoKnownAs |
gptkb:Noonan_syndrome_with_multiple_lentigines
|
| gptkbp:characterizedBy |
gptkb:pulmonary_stenosis
deafness abnormal genitalia electrocardiographic conduction abnormalities multiple lentigines ocular hypertelorism retarded growth |
| gptkbp:firstDescribed |
gptkb:Gorlin_et_al.
1969 |
| https://www.w3.org/2000/01/rdf-schema#label |
LEOPARD syndrome
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:PTPN11_gene
gptkb:RAF1_gene gptkb:BRAF_gene |
| gptkbp:namedFor |
acronym of major features: Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retarded growth, Deafness
|
| gptkbp:OMIM |
151100
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Noonan_syndrome
|
| gptkbp:bfsParent |
gptkb:cardiofaciocutaneous_syndrome
gptkb:3p25_(CRAF) gptkb:RAF1 |
| gptkbp:bfsLayer |
6
|