Visualize Submit Comment
Metadata
ID DOID:0060578
Name Noonan syndrome 1
Definition A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.
https://www.ncbi.nlm.nih.gov/pubmed/18203203
Xrefs

ICD10CM:Q87.1

MIM:163950

Alternateids

DOID:0070101

Synonyms

NS1 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Noonan syndrome

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

Add an item to the term tracker