Noonan syndrome-like disorder
GPTKB entity
Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:causedBy |
mutation in RAF1 gene
mutation in RIT1 gene mutation in SHOC2 gene |
https://www.w3.org/2000/01/rdf-schema#label |
Noonan syndrome-like disorder
|
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
|