Donnai-Barrow syndrome Disease Ontology Browser

Disease Ontology Browser

Donnai-Barrow syndrome (DOID:0090144)
Alliance: disease page
Synonyms: DBS/FOAR 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; FOAR syndrome; Holmes-Schepens syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness
Alt IDs: OMIM:222448, MESH:C536390, ORDO:2143, UMLS_CUI:C1857277
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.

Disease References using Mouse Models (1)

Allelic Composition	Genetic Background	Reference	Phenotypes
Lrp2m267Asp/Lrp2m267Asp	involves: C57BL/6J * FVB/N	J:166387	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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