loading...| Preferred Name |
Donnai-Barrow syndrome |
| Synonyms |
syndrome of ocular and facial anomalies, telecanthus and deafness |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0090144 |
| database_cross_reference |
ORDO:2143 MESH:C536390 UMLS_CUI:C1857277 OMIM:222448 SNOMEDCT_US_2022_09_01:702418009 GARD:1899 |
| 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. |
| has exact synonym |
syndrome of ocular and facial anomalies, telecanthus and deafness diaphragmatic hernia-exomphalos-hypertelorism syndrome DBS/FOAR syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome Holmes-Schepens syndrome FOAR syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0090144 |
| in_subset | |
| label |
Donnai-Barrow syndrome |
| notation |
DOID:0090144 |
| prefLabel |
Donnai-Barrow syndrome |
| subClassOf |