Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0007029> ?p ?o ?g. }
- MONDO_0007029 hasDbXref "ICD9:759.89" @default.
- MONDO_0007029 hasDbXref "MESH:D019280" @default.
- MONDO_0007029 hasDbXref "MedDRA:10071135" @default.
- MONDO_0007029 hasDbXref "NCIT:C98983" @default.
- MONDO_0007029 hasDbXref "Orphanet:107" @default.
- MONDO_0007029 hasDbXref "SCTID:290006" @default.
- MONDO_0007029 hasDbXref "UMLS:C0265234" @default.
- MONDO_0007029 hasDbXref "UMLS:CN043574" @default.
- MONDO_0007029 hasDbXref "Wikipedia:Branchio-oto-renal_syndrome" @default.
- MONDO_0007029 hasExactSynonym "Branchio-Oto-renal syndrome" @default.
- MONDO_0007029 hasExactSynonym "Branchio-otorenal dysplasia" @default.
- MONDO_0007029 hasExactSynonym "Melnick-Fraser syndrome" @default.
- MONDO_0007029 hasExactSynonym "branchio-oto-renal syndrome" @default.
- MONDO_0007029 hasExactSynonym "branchiootorenal dysplasia" @default.
- MONDO_0007029 hasExactSynonym "branchiootorenal syndrome" @default.
- MONDO_0007029 hasRelatedSynonym "Branchio oto renal syndrome" @default.
- MONDO_0007029 hasRelatedSynonym "bor syndrome" @default.
- MONDO_0007029 id "MONDO:0007029" @default.
- MONDO_0007029 inSubset gard_rare @default.
- MONDO_0007029 inSubset nord_rare @default.
- MONDO_0007029 inSubset ordo_malformation_syndrome @default.
- MONDO_0007029 inSubset orphanet_rare @default.
- MONDO_0007029 inSubset rare @default.
- MONDO_0007029 type Class @default.
- MONDO_0007029 comment "(From orphanet): Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required." @default.
- MONDO_0007029 isDefinedBy mondo.owl @default.
- MONDO_0007029 label "branchio-oto-renal syndrome" @default.
- MONDO_0007029 subClassOf BFO_0000001 @default.
- MONDO_0007029 subClassOf BFO_0000002 @default.
- MONDO_0007029 subClassOf BFO_0000016 @default.
- MONDO_0007029 subClassOf BFO_0000017 @default.
- MONDO_0007029 subClassOf BFO_0000020 @default.
- MONDO_0007029 subClassOf COB_0000033 @default.
- MONDO_0007029 subClassOf COB_0000111 @default.
- MONDO_0007029 subClassOf COB_0000502 @default.
- MONDO_0007029 subClassOf MONDO_0000001 @default.
- MONDO_0007029 subClassOf MONDO_0000426 @default.
- MONDO_0007029 subClassOf MONDO_0000429 @default.
- MONDO_0007029 subClassOf MONDO_0002254 @default.
- MONDO_0007029 subClassOf MONDO_0003847 @default.
- MONDO_0007029 subClassOf MONDO_0007029 @default.
- MONDO_0007029 subClassOf MONDO_0015161 @default.
- MONDO_0007029 subClassOf MONDO_0015334 @default.
- MONDO_0007029 subClassOf MONDO_0019042 @default.
- MONDO_0007029 subClassOf MONDO_0019755 @default.
- MONDO_0007029 subClassOf MONDO_0021147 @default.
- MONDO_0007029 subClassOf MONDO_0700096 @default.
- MONDO_0007029 subClassOf OGMS_0000031 @default.
- MONDO_0007029 subClassOf PATO_0000001 @default.
- MONDO_0007029 closeMatch 10071135 @default.
- MONDO_0007029 exactMatch NCIT_C98983 @default.
- MONDO_0007029 exactMatch D019280 @default.
- MONDO_0007029 exactMatch 290006 @default.
- MONDO_0007029 exactMatch C0265234 @default.
- MONDO_0007029 exactMatch CN043574 @default.
- MONDO_0007029 exactMatch DOID_14702 @default.
- MONDO_0007029 exactMatch Orphanet_107 @default.
- MONDO_0007029 category Attribute @default.
- MONDO_0007029 category BiologicalEntity @default.
- MONDO_0007029 category Disease @default.
- MONDO_0007029 category DiseaseOrPhenotypicFeature @default.
- MONDO_0007029 category Entity @default.
- MONDO_0007029 category NamedThing @default.
- MONDO_0007029 category OntologyClass @default.
- MONDO_0007029 category OrganismAttribute @default.
- MONDO_0007029 category PhenotypicQuality @default.
- MONDO_0007029 category ThingWithTaxon @default.