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DO Term : Noonan syndrome [DOID:3490] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.

synonyms:
GARD:10955,
PS163950,
OMIM:PS163950,
ICD10CM:Q87.19,
NCI:C34854,
Turner's phenotype, karyotype normal,
ORDO:648,
MESH:D009634,
SNOMEDCT_US_2023_03_01:88327006,
UMLS_CUI:C0028326

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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