FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Donnai-Barrow syndrome ID (Ontology) DOID:0090144 (Human Disease)
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.
Also Known As "DBS/FOAR syndrome" ; "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" ; "diaphragmatic hernia-exomphalos-hypertelorism syndrome" (for all, see Synonyms field below)
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 Genes
 Donnai-Barrow syndrome       1
 for disease ribbon | Donnai-Barrow syndrome       1
 model of | Donnai-Barrow syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Donnai-Barrow syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "DBS/FOAR syndrome" EXACT
    "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" EXACT
    "diaphragmatic hernia-exomphalos-hypertelorism syndrome" EXACT
    "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" EXACT
    "facio-oculo-acoustico-renal syndrome" EXACT
    "faciooculoacousticorenal syndrome" EXACT
    "FOAR syndrome" EXACT
    "Holmes-Schepens syndrome" EXACT
    "syndrome of ocular and facial anomalies, telecanthus and deafness" EXACT
Secondary IDs
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GARD:1899
MESH:C536390
MIM:222448
ORDO:2143
SNOMEDCT_US_2023_03_01:702418009
UMLS_CUI:C1857277