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branchio-oto-renal syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:branchio-oto-renal syndrome
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Accession:EFO:MONDO:0007029 term browser browse the term
Definition:A syndrome 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).
Synonyms:exact_synonym: Branchio-otorenal dysplasia;   DOID:14702;   Melnick-Fraser syndrome;   NCIT:C98983;   Orphanet:107;   branchiootorenal dysplasia;   branchiootorenal syndrome;   http://identifiers.org/medgen/82693;   http://identifiers.org/mesh/D019280;   http://identifiers.org/snomedct/290006;   http://linkedlifedata.com/resource/umls/id/C0265234;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/504227287;   https://omim.org/phenotypicSeries/PS113650
 synonym: http://identifiers.org/meddra/10071135
 related_synonym: bor syndrome
 alt_id: MONDO:0007029
 xref: DOID:14702;   GARD:10147;   ICD9:759.89;   MEDGEN:82693;   MESH:D019280;   MIM:PS113650;   MedDRA:10071135;   NANDO:1200675;   NCI:C98983;   ORDO:107;   SCTID:290006;   UMLS:C0265234;   Wikipedia:Branchio-oto-renal_syndrome;   icd11.foundation:504227287

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