Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
Preferred Name

Noonan syndrome 1
Synonyms

NS1

Definitions

A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.

ID

http://purl.obolibrary.org/obo/DOID_0060578

alternative label

NS1

database_cross_reference

ICD10CM:Q87.1

MIM:163950

definition

A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.

has exact synonym

NS1

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_alternative_id

DOID:0070101

has_obo_namespace

disease_ontology

id

DOID:0060578

label

Noonan syndrome 1

notation

DOID:0060578

note

A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.

preferred label

Noonan syndrome 1

prefLabel

Noonan syndrome 1

subClassOf

http://purl.obolibrary.org/obo/DOID_3490

http://purl.obolibrary.org/obo/DOID_0050736

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