ZFIN Human Disease: autosomal dominant intellectual developmental disorder 19

OBO ID: DOID:0070049

Term Name:	autosomal dominant intellectual developmental disorder 19		Search Ontology:
Synonyms:	autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19 MRD19
Definition:	An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. https://www.ncbi.nlm.nih.gov/pubmed/23033978
References:	OMIM:615075
Ontology:	Human Disease ( DOID:0070049 )

Relationships

is a type of:	autosomal dominant intellectual developmental disorder autosomal dominant intellectual developmental disorder Show first 5 Terms

OTHER autosomal dominant intellectual developmental disorder 19 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CTNNB1	ctnnb2 ctnnb1	Neurodevelopmental disorder with spastic diplegia and visual defects	615075

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None