DOID:0090144 - Donnai-Barrow syndrome
Disease Ontology Definition:A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.
Synonyms: DBS/FOAR syndrome, FOAR syndrome, Holmes-Schepens syndrome, diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria, diaphragmatic hernia-exomphalos-hypertelorism syndrome, diaphragmatic hernia-hypertelorism-myopia-deafness syndrome, facio-oculo-acoustico-renal syndrome, faciooculoacousticorenal syndrome, syndrome of ocular and facial anomalies, telecanthus and deafness
|OMIM:222448 - DONNAI-BARROW SYNDROME|
|MONDO:0009104 - Donnai-Barrow syndrome|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : lrp2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD