Human Disease Ontology 123

Last uploaded: September 28, 2023
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

database_cross_reference

OMIM:163950

ICD10CM:Q87.1

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

prefLabel

Noonan syndrome 1

subClassOf

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

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

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/163950 Online Mendelian Inheritance in Man LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75459 National Cancer Institute Thesaurus LOOM