Search Ontology:
Human Disease
Donnai-Barrow syndrome
- Term ID
- DOID:0090144
- Synonyms
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- 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
- 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. (2)
- References
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- GARD:1899
- MESH:C536390
- MIM:222448
- ORDO:2143
- SNOMEDCT_US_2023_03_01:702418009
- UMLS_CUI:C1857277
- Ontology
- Human Disease ( DOID:0090144 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models