Noonan syndrome-like disorder
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:causedBy |
mutation in RAF1 gene
mutation in RIT1 gene mutation in SHOC2 gene |
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
613682
|
| gptkbp:relatedTo |
gptkb:Noonan_syndrome
|
| gptkbp:symptom |
gptkb:atrial_septal_defect
short stature developmental delay facial dysmorphism |
| gptkbp:synonym |
gptkb:Noonan_syndrome_8
Noonan syndrome-like disorder with loose anagen hair Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia |
| gptkbp:bfsParent |
gptkb:CBL_gene
gptkb:PPP1CB_gene |
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Noonan syndrome-like disorder
|