Ontology Browser

Term:
Bannayan-Riley-Ruvalcaba syndrome (DOID:0050657)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3)
Parent Terms Term With Siblings Child Terms
hemangioma +     
Macrocephaly +     
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
achondrogenesis type II  
acquired hemangioma 
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
advanced sleep phase syndrome +   
age related macular degeneration +   
Alexander Disease  
Alzheimer's disease 1 +   
Alzheimer's disease 2  
Alzheimer's disease 3 +   
Alzheimer's disease 4  
Alzheimer's disease 5 
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Andersen-Tawil syndrome  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
APP-related cerebral amyloid angiopathy  
arrhythmogenic right ventricular dysplasia 1  
arrhythmogenic right ventricular dysplasia 10  
arrhythmogenic right ventricular dysplasia 11  
arrhythmogenic right ventricular dysplasia 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 2  
arrhythmogenic right ventricular dysplasia 3 
arrhythmogenic right ventricular dysplasia 4 
arrhythmogenic right ventricular dysplasia 5  
arrhythmogenic right ventricular dysplasia 8  
arrhythmogenic right ventricular dysplasia 9  
arteriovenous malformation +   
atrial heart septal defect 2  
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
autosomal dominant Alport syndrome  
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
autosomal dominant chronic granulomatous disease 
autosomal dominant cutis laxa +   
Autosomal Dominant Dyskeratosis Congenita +   
autosomal dominant Emery-Dreifuss muscular dystrophy 4  
autosomal dominant Emery-Dreifuss muscular dystrophy 5  
autosomal dominant Emery-Dreifuss muscular dystrophy 7  
autosomal dominant familial periodic fever  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant limb-girdle muscular dystrophy +   
autosomal dominant macrothrombocytopenia TUBB1-related  
autosomal dominant mental retardation 55  
autosomal dominant mental retardation 56  
autosomal dominant microcephaly +   
autosomal dominant nocturnal frontal lobe epilepsy +   
autosomal dominant non-syndromic intellectual disability +   
autosomal dominant nonsyndromic deafness +   
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
autosomal dominant Parkinson's disease 1  
autosomal dominant Parkinson's disease 22  
autosomal dominant Parkinson's disease 4  
autosomal dominant Parkinson's disease 8  
autosomal dominant polycystic kidney disease +   
autosomal dominant pseudohypoaldosteronism type 1  
autosomal dominant Robinow syndrome 1  
autosomal dominant Robinow syndrome 2  
autosomal dominant Robinow syndrome 3  
autosomal dominant sensory ataxia 1  
autosomal dominant sideroblastic anemia 4  
autosomal dominant type IV Ehlers-Danlos syndrome +   
Axenfeld-Rieger syndrome +   
Bagatelle Cassidy syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Bart-Pumphrey syndrome  
Beare-Stevenson cutis gyrata syndrome  
Benign Familial Macrocephaly 
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
blepharophimosis, ptosis, and epicanthus inversus syndrome  
blue color blindness  
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
branchiooculofacial syndrome  
branchiootorenal syndrome +   
breast hemangioma +  
Brooke-Spiegler syndrome  
Brown-Vialetto-Van Laere syndrome +   
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
bullous congenital ichthyosiform erythroderma  
CADASIL 1  
CADASIL 2  
campomelic dysplasia +   
capillary hemangioma +   
Carney complex +   
cavernous hemangioma +   
central nervous system hemangioma +   
Central Nervous System Venous Angioma 
Cerebellar Granule Cell Hypertrophy and Megalencephaly 
Cerebelloparenchymal Disorder VI 
Charcot-Marie-Tooth disease dominant intermediate A 
Charcot-Marie-Tooth disease dominant intermediate B +   
Charcot-Marie-Tooth disease dominant intermediate C  
Charcot-Marie-Tooth disease dominant intermediate D  
Charcot-Marie-Tooth disease dominant intermediate E  
Charcot-Marie-Tooth disease dominant intermediate F  
cherubism +   
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 1q21.1 deletion syndrome  
Clouston syndrome  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
Costello syndrome  
Cowden syndrome +   
Cowden-Like Syndrome  
Crouzon syndrome-acanthosis nigricans syndrome  
Culler-Jones syndrome  
Cutaneous Hemangiomatosis with Associated Features 
deep angioma +  
Denys-Drash syndrome  
Disseminated Hemangiomatosis 
Duane-radial ray syndrome  
dysplastic nevus syndrome +   
EEC syndrome +   
Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly 
epidermolysis bullosa simplex generalized type  
epidermolysis bullosa simplex localized type  
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
familial cold autoinflammatory syndrome 4  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
Feingold syndrome +   
Frasier syndrome  
Fryns Macrocephaly 
glomeruloid hemangioma 
Graham Boyle Troxell Syndrome 
Hajdu-Cheney syndrome  
hand-foot-genital syndrome  
Heart Defect, Tongue Hamartoma and Polysyndactyly 
hemangioblastoma +   
Hemangioendothelioma +   
hemangioma of intra-abdominal structure +  
hemangioma of lung +  
hemangioma of orbit 
hemangioma of peripheral nerve 
Hemangiomas of Small Intestine 
Hemimegalencephaly +   
hereditary breast ovarian cancer syndrome  
hereditary hemorrhagic telangiectasia +   
Hereditary Neurocutaneous Angioma 
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 29 
hereditary spastic paraplegia 31  
hereditary spastic paraplegia 33  
hereditary spastic paraplegia 36 
hereditary spastic paraplegia 37 
hereditary spastic paraplegia 38 
hereditary spastic paraplegia 3A  
hereditary spastic paraplegia 4  
hereditary spastic paraplegia 41 
hereditary spastic paraplegia 42  
hereditary spastic paraplegia 6  
hereditary spastic paraplegia 73  
hereditary spastic paraplegia 8  
histiocytoid hemangioma +  
hobnail hemangioma 
Holt-Oram syndrome  
hypomyelinating leukodystrophy 6  
hypophosphatasia +   
ichthyosis vulgaris +   
IMMUNODEFICIENCY 31C  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY  
intracranial structure hemangioma +  
iridogoniodysgenesis syndrome +   
juvenile glaucoma  
juvenile polyposis syndrome +   
Kasabach-Merritt Syndrome +   
Kniest Like Dysplasia Lethal 
LADD syndrome  
Larsen syndrome  
LEOPARD syndrome +   
Li-Fraumeni syndrome +   
Littoral Cell Angioma of the Spleen 
Loeys-Dietz syndrome +   
Luscan-Lumish syndrome  
Lynch syndrome +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
malignant hyperthermia +   
mandibulofacial dysostosis, Guion-Almeida type  
maturity-onset diabetes of the young +   
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
Megalencephaly with Dysmyelination 
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Meier-Gorlin syndrome 6  
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, X-Linked 93  
mitochondrial DNA depletion syndrome 12a  
monilethrix +   
Muckle-Wells syndrome  
Multiple Basal Cell Carcinoma  
multiple cutaneous and mucosal venous malformations  
Multiple Endocrine Neoplasia +   
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
nail-patella syndrome +   
Neuhauser Syndrome 
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
ocular albinism with sensorineural deafness  
Opitz GBBB Syndrome, Type II  
ovarian dysgenesis 8  
pachyonychia congenita +   
Pallister-Hall syndrome +   
PAPA syndrome  
paraganglioma +   
Pascual Castroviejo Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Pelger-Huet anomaly +   
permanent neonatal diabetes mellitus +   
photosensitive trichothiodystrophy +   
piebaldism +   
polycystic liver disease +   
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
popliteal pterygium syndrome +   
Proteus syndrome +   
proximal symphalangism  
PTEN hamartoma tumor syndrome  
punctate palmoplantar keratoderma type III 
Rapp-Hodgkin syndrome  
renal coloboma syndrome  
Rubinstein-Taybi syndrome +   
Sacral Hemangiomas Multiple Congenital Abnormalities 
SADDAN  
sclerosing hemangioma +  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
skin hemangioma +   
Snijders Blok-Campeau Syndrome  
Spinal Arterial Venous Malformations with Cutaneous Hemangiomas 
spindle cell hemangioma 
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
Stickler syndrome +   
Sturge-Weber Syndrome +   
subglottic angioma 
syndromic X-linked intellectual disability Turner type  
tarsal-carpal coalition syndrome  
THAUVIN-ROBINET-FAIVRE SYNDROME  
Tietz syndrome  
Timothy syndrome  
Townes-Brocks syndrome +   
transthyretin amyloidosis  
Treacher Collins syndrome +   
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
tuberous sclerosis +   
Tufted Angioma 
type 1 diabetes mellitus 2  
VACTERL/VATER Association with Hydrocephalus  
venous hemangioma 
Waardenburg's syndrome +   
Zori Stalker Williams Syndrome 

Synonyms
Exact Synonyms: BRRS ;   BZS ;   Bannayan-Zonana syndrome ;   RMSS ;   Riley-Smith syndrome ;   Ruvalcaba Myhre Smith syndrome ;   macrocephaly, multiple lipomas and hemangiomata ;   macrocephaly, pseudopapilledema and multiple hemangiomas
Primary IDs: RDO:9003061
Xrefs: GARD:5887

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.