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DO Term : Donnai-Barrow syndrome [DOID:0090144] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • diaphragmatic hernia-hypertelorism-myopia-deafness syndrome,
  • OMIM:222448,
  • SNOMEDCT_US_2023_03_01:702418009,
  • DBS/FOAR syndrome,
  • 222448,
  • FOAR syndrome,
  • GARD:1899,
  • syndrome of ocular and facial anomalies, telecanthus and deafness,
  • UMLS_CUI:C1857277,
  • facio-oculo-acoustico-renal syndrome,
  • diaphragmatic hernia-exomphalos-hypertelorism syndrome,
  • ORDO:2143,
  • MESH:C536390,
  • faciooculoacousticorenal syndrome,
  • diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria,
  • Holmes-Schepens syndrome
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Disease

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Diseases --> Mouse models

Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents





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