ZFIN Human Disease: autosomal dominant intellectual developmental disorder 40

OBO ID: DOID:0070070

Term Name:	autosomal dominant intellectual developmental disorder 40		Search Ontology:
Synonyms:	autosomal dominant mental retardation 40 autosomal dominant non-syndromic intellectual disability 40 MRD40
Definition:	An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. https://www.ncbi.nlm.nih.gov/pubmed/25533962
References:	OMIM:616579
Ontology:	Human Disease ( DOID:0070070 )

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 40 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHAMP1		Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None