ZFIN Human Disease: autosomal dominant intellectual developmental disorder 31

OBO ID: DOID:0070061

Term Name:	autosomal dominant intellectual developmental disorder 31		Search Ontology:
Synonyms:	autosomal dominant mental retardation 31 autosomal dominant non-syndromic intellectual disability 31 MRD31
Definition:	An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. https://www.ncbi.nlm.nih.gov/pubmed/25439098
References:	OMIM:616158
Ontology:	Human Disease ( DOID:0070061 )

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 31 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PURA	puraa purab	Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties	616158

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None