ZFIN Human Disease: Noonan syndrome 13

OBO ID: DOID:0112161

Term Name:	Noonan syndrome 13		Search Ontology:
Synonyms:	NS13
Definition:	A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. https://pubmed.ncbi.nlm.nih.gov/32721402/
References:	OMIM:619087
Ontology:	Human Disease ( DOID:0112161 )

Relationships

is a type of:	autosomal dominant disease Noonan syndrome autosomal dominant disease Noonan syndrome Show first 5 Terms

OTHER Noonan syndrome 13 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MAPK1	mapk1	Noonan syndrome 13	619087

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None