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