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Metadata
ID DOID:0060586
Name Noonan syndrome 8
Definition A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22.
https://www.ncbi.nlm.nih.gov/pubmed/24939608, https://www.ncbi.nlm.nih.gov/pubmed/25124994
Xrefs

ICD10CM:Q87.1

OMIM:615355

Alternateids

DOID:0070108

Synonyms

NS8 [EXACT]

Parent Relationships

is_a Noonan syndrome

is_a autosomal dominant disease

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