DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple 22q11 Deletion Syndrome [C16.131.077.019] 22q11 Deletion Syndrome Alagille Syndrome [C16.131.077.065] Alagille Syndrome Angelman Syndrome [C16.131.077.095] Angelman Syndrome Barth Syndrome [C16.131.077.121] Barth Syndrome Basal Cell Nevus Syndrome [C16.131.077.130] Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome [C16.131.077.133] Beckwith-Wiedemann Syndrome Bloom Syndrome [C16.131.077.137] Bloom Syndrome Branchio-Oto-Renal Syndrome [C16.131.077.208] Branchio-Oto-Renal Syndrome Carney Complex [C16.131.077.229] Carney Complex Ciliopathies [C16.131.077.245] Ciliopathies Cockayne Syndrome [C16.131.077.250] Cockayne Syndrome Costello Syndrome [C16.131.077.256] Costello Syndrome Cri-du-Chat Syndrome [C16.131.077.262] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.077.272] De Lange Syndrome Deaf-Blind Disorders [C16.131.077.299] Deaf-Blind Disorders Donohue Syndrome [C16.131.077.313] Donohue Syndrome Down Syndrome [C16.131.077.327] Down Syndrome Ectodermal Dysplasia [C16.131.077.350] Ectodermal Dysplasia Fraser Syndrome [C16.131.077.371] Fraser Syndrome Gardner Syndrome [C16.131.077.393] Gardner Syndrome Heterotaxy Syndrome [C16.131.077.401] Heterotaxy Syndrome Holoprosencephaly [C16.131.077.410] Holoprosencephaly Incontinentia Pigmenti [C16.131.077.445] Incontinentia Pigmenti Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477] Isolated Noncompaction of the Ventricular Myocardium Laurence-Moon Syndrome [C16.131.077.509] Laurence-Moon Syndrome LEOPARD Syndrome [C16.131.077.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C16.131.077.537] Loeys-Dietz Syndrome Marfan Syndrome [C16.131.077.550] Marfan Syndrome Mobius Syndrome [C16.131.077.578] Mobius Syndrome Monilethrix [C16.131.077.592] Monilethrix Nail-Patella Syndrome [C16.131.077.606] Nail-Patella Syndrome Netherton Syndrome [C16.131.077.619] Netherton Syndrome Nevus, Sebaceous of Jadassohn [C16.131.077.633] Nevus, Sebaceous of Jadassohn Oculocerebrorenal Syndrome [C16.131.077.662] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.131.077.676] Orofaciodigital Syndromes Pallister-Hall Syndrome [C16.131.077.690] Pallister-Hall Syndrome Pentalogy of Cantrell [C16.131.077.696] Pentalogy of Cantrell POEMS Syndrome [C16.131.077.703] POEMS Syndrome Polycystic Kidney Diseases [C16.131.077.717] Polycystic Kidney Diseases Prader-Willi Syndrome [C16.131.077.730] Prader-Willi Syndrome Prolidase Deficiency [C16.131.077.735] Prolidase Deficiency Proteus Syndrome [C16.131.077.740] Proteus Syndrome Prune Belly Syndrome [C16.131.077.745] Prune Belly Syndrome Rubella Syndrome, Congenital [C16.131.077.790] Rubella Syndrome, Congenital Rubinstein-Taybi Syndrome [C16.131.077.804] Rubinstein-Taybi Syndrome Short Rib-Polydactyly Syndrome [C16.131.077.850] Short Rib-Polydactyly Syndrome Silver-Russell Syndrome [C16.131.077.855] Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome [C16.131.077.860] Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome [C16.131.077.879] Smith-Magenis Syndrome Sotos Syndrome [C16.131.077.889] Sotos Syndrome Trichothiodystrophy Syndromes [C16.131.077.899] Trichothiodystrophy Syndromes Trisomy 13 Syndrome [C16.131.077.919] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.077.929] Trisomy 18 Syndrome Waardenburg Syndrome [C16.131.077.938] Waardenburg Syndrome Weill-Marchesani Syndrome [C16.131.077.941] Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome [C16.131.077.944] Wolf-Hirschhorn Syndrome Zellweger Syndrome [C16.131.077.970] Zellweger Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Chromosome Disorders [C16.131.260] Chromosome Disorders 22q11 Deletion Syndrome [C16.131.260.019] 22q11 Deletion Syndrome Angelman Syndrome [C16.131.260.040] Angelman Syndrome Beckwith-Wiedemann Syndrome [C16.131.260.080] Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome [C16.131.260.090] Branchio-Oto-Renal Syndrome Cri-du-Chat Syndrome [C16.131.260.190] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.260.210] De Lange Syndrome Down Syndrome [C16.131.260.260] Down Syndrome Holoprosencephaly [C16.131.260.380] Holoprosencephaly Jacobsen Distal 11q Deletion Syndrome [C16.131.260.440] Jacobsen Distal 11q Deletion Syndrome Prader-Willi Syndrome [C16.131.260.700] Prader-Willi Syndrome Rubinstein-Taybi Syndrome [C16.131.260.790] Rubinstein-Taybi Syndrome Sex Chromosome Disorders [C16.131.260.830] Sex Chromosome Disorders Silver-Russell Syndrome [C16.131.260.870] Silver-Russell Syndrome Smith-Magenis Syndrome [C16.131.260.887] Smith-Magenis Syndrome Sotos Syndrome [C16.131.260.905] Sotos Syndrome Trisomy 13 Syndrome [C16.131.260.923] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.260.932] Trisomy 18 Syndrome WAGR Syndrome [C16.131.260.940] WAGR Syndrome Williams Syndrome [C16.131.260.970] Williams Syndrome Wolf-Hirschhorn Syndrome [C16.131.260.985] Wolf-Hirschhorn Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Chromosome Disorders [C16.320.180] Chromosome Disorders 22q11 Deletion Syndrome [C16.320.180.019] 22q11 Deletion Syndrome Angelman Syndrome [C16.320.180.040] Angelman Syndrome Beckwith-Wiedemann Syndrome [C16.320.180.080] Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome [C16.320.180.090] Branchio-Oto-Renal Syndrome Cri-du-Chat Syndrome [C16.320.180.190] Cri-du-Chat Syndrome De Lange Syndrome [C16.320.180.210] De Lange Syndrome Down Syndrome [C16.320.180.260] Down Syndrome Holoprosencephaly [C16.320.180.380] Holoprosencephaly Jacobsen Distal 11q Deletion Syndrome [C16.320.180.440] Jacobsen Distal 11q Deletion Syndrome Prader-Willi Syndrome [C16.320.180.700] Prader-Willi Syndrome Rubinstein-Taybi Syndrome [C16.320.180.790] Rubinstein-Taybi Syndrome Sex Chromosome Disorders [C16.320.180.830] Sex Chromosome Disorders Silver-Russell Syndrome [C16.320.180.870] Silver-Russell Syndrome Smith-Magenis Syndrome [C16.320.180.887] Smith-Magenis Syndrome Sotos Syndrome [C16.320.180.905] Sotos Syndrome Trisomy 13 Syndrome [C16.320.180.923] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.320.180.932] Trisomy 18 Syndrome WAGR Syndrome [C16.320.180.940] WAGR Syndrome Williams Syndrome [C16.320.180.970] Williams Syndrome Wolf-Hirschhorn Syndrome [C16.320.180.985] Wolf-Hirschhorn Syndrome

Branchio-Oto-Renal Syndrome - Preferred

Concept UI	M0028709
Scope note	An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Preferred term	Branchio-Oto-Renal Syndrome
Entry term(s)	BOR Syndrome Branchio Oto Renal Syndrome Branchio-Otorenal Dysplasia Branchio-Otorenal Syndrome Branchiootorenal Dysplasia Dysplasia, Branchiootorenal Melnick Fraser Syndrome Melnick-Fraser Syndrome

Branchio-Oculo-Facial Syndrome - Related but not broader or narrower

Concept UI	M0028710
Preferred term	Branchio-Oculo-Facial Syndrome
Entry term(s)	BOF Syndrome Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging Branchio Oculo Facial Syndrome Branchiooculofacial Syndrome Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome Lee Root Fenske Syndrome Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome Syndrome, BOF

Branchiootorenal Syndrome 2 - Related but not broader or narrower

Concept UI	M0531567
Preferred term	Branchiootorenal Syndrome 2

Branchiootorenal Syndrome 1 - Narrower

Concept UI	M000649003
Preferred term	Branchiootorenal Syndrome 1