Noonan syndrome 8

Noonan syndrome 8

http://purl.obolibrary.org/obo/DOID_0060586

A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. [ url:https://www.ncbi.nlm.nih.gov/pubmed/24939608 url:https://www.ncbi.nlm.nih.gov/pubmed/25124994 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: NS8

Tree view
Term mappings

Preferred root terms

All terms

This is just here as a test because I lose it

Term information

database cross reference

ICD10CM:Q87.1
MIM:615355

acronym

NS8

has alternative id

DOID:0070108

has obo namespace

disease_ontology

DOID:0060586

Term relations

Subclass of:

autosomal dominant disease
Noonan syndrome
has material basis in some autosomal dominant inheritance