FTP Download
Chinchilla Research Resource Database
   
Keyword
  

Ontology Browser

Term:
Brooke-Spiegler syndrome (DOID:0050693)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Abdominal Chemodectomas with Cutaneous Angiolipomas 
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
acanthoma +  
achondrogenesis type II  
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
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  
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 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 +   
Bannayan-Riley-Ruvalcaba syndrome  
Bart-Pumphrey syndrome  
Bazex-Dupre-Christol Syndrome 
Beare-Stevenson cutis gyrata syndrome  
Becker Nevus Syndrome 
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
blepharophimosis, ptosis, and epicanthus inversus syndrome  
blue color blindness  
Blue Rubber Bleb Nevus Syndrome  
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Brooke-Spiegler syndrome  
An autosomal dominant disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. (DO)
Brown-Vialetto-Van Laere syndrome +   
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
bullous congenital ichthyosiform erythroderma  
CADASIL 1  
CADASIL 2  
Calcifying Epithelial Odontogenic Tumor 
campomelic dysplasia +   
Capillary Hemangioma, Infantile  
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Carney complex +   
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 +   
Clouston syndrome  
Costello syndrome  
Cowden syndrome +   
Crouzon syndrome-acanthosis nigricans syndrome  
Culler-Jones syndrome  
Davenport Donlan Syndrome 
Denys-Drash syndrome  
Dermatopathia Pigmentosa Reticularis  
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma  
Duane-radial ray syndrome  
dysplastic nevus syndrome +   
EEC syndrome +   
familial adenomatous polyposis +   
Familial Cancer with In Vitro Radioresistance 
familial chronic myelocytic leukemia-like syndrome  
familial cold autoinflammatory syndrome 4  
Familial Cutaneous Collagenoma  
Familial Cutaneous Papillomatosis 
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
familial meningioma +   
Familial Multiple Trichodiscomas 
Fanconi-like syndrome  
Feingold syndrome +   
Frasier syndrome  
Genochondromatosis 
Giant Pigmented Hairy Nevus  
Hajdu-Cheney syndrome  
Hamartoma, Precalcaneal Congenital Fibrolipomatous 
hand-foot-genital syndrome  
hereditary breast ovarian cancer syndrome +   
hereditary hemorrhagic telangiectasia +   
Hereditary Leiomyomatosis and Renal Cell Cancer  
hereditary multiple exostoses +   
Hereditary Paraganglioma-Pheochromocytoma Syndromes  
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  
Holt-Oram syndrome  
hypomyelinating leukodystrophy 6  
hypophosphatasia +   
ichthyosis vulgaris +   
iridogoniodysgenesis syndrome +   
juvenile polyposis syndrome +   
LADD syndrome  
Larsen syndrome  
LEOPARD syndrome +   
Li-Fraumeni syndrome +   
Loeys-Dietz syndrome +   
Lynch syndrome +   
macrocephaly-autism syndrome  
malignant hyperthermia +   
mandibulofacial dysostosis, Guion-Almeida type  
maturity-onset diabetes of the young +   
McCune Albright syndrome  
Melanoma-Pancreatic Cancer Syndrome  
mitochondrial DNA depletion syndrome 12a  
monilethrix +   
Muckle-Wells syndrome  
multiple cutaneous and mucosal venous malformations  
Multiple Endocrine Neoplasia +   
Multiple Hamartoma Syndrome +   
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
nail-patella syndrome +   
nephroblastoma +   
neurilemmomatosis  
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
ocular albinism with sensorineural deafness  
Opitz GBBB Syndrome, Type II  
ovarian dysgenesis 8  
pachyonychia congenita +   
Pallister-Hall syndrome +   
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING  
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal  
paraganglioma +   
Paragangliomas 2  
Paragangliomas 3  
Pelger-Huet anomaly +   
permanent neonatal diabetes mellitus +   
Peutz-Jeghers syndrome  
Phacomatosis Pigmentokeratotica 
photosensitive trichothiodystrophy +   
piebaldism +   
polycystic liver disease +   
popliteal pterygium syndrome +   
Progressive Mucinous Histiocytosis 
proximal symphalangism  
punctate palmoplantar keratoderma type III 
Rapp-Hodgkin syndrome  
Reactive Angioendotheliomatosis 
renal coloboma syndrome  
Rombo syndrome 
Rubinstein-Taybi syndrome +   
SADDAN  
Sclerotylosis 
sebaceous gland neoplasm +   
skin benign neoplasm +   
skin cancer +   
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
Stickler syndrome +   
sweat gland neoplasm +   
tarsal-carpal coalition syndrome  
Tietz syndrome  
Timothy syndrome  
Townes-Brocks syndrome  
transthyretin amyloidosis  
Treacher Collins syndrome  
Trichoepithelioma, Multiple Familial, 2  
Trichoepitheliomas, Multiple Desmoplastic 
Trichofolliculoma 
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
tuberous sclerosis +   
Tufted Angioma 
Turcot Syndrome  
type 1 diabetes mellitus 2  
Waardenburg's syndrome +   

Synonyms
Exact Synonyms: Ancell-Spiegler cylindromas ;   BRSS ;   BSS ;   Brooke-Fordyce trichoepitheliomas ;   Cylindromas, Dermal Eccrine ;   Dermal Eccrine Cylindroma ;   EAC ;   Epithelioma adenoides cysticum of Brooke ;   FAMILIAL MULTIPLE TRICHOEPITHELIOMATA ;   Familial Trichoepithelioma ;   Hereditary Multiple Benign Cystic Epithelioma ;   MFT1 ;   Multiple Familial Trichoepithelioma ;   SBS ;   Turban tumor syndrome ;   Turban tumors ;   familial cylindromatosis ;   multiple familial trichoepithelioma 1
Primary IDs: MESH:C536611
Alternate IDs: OMIM:132700 ;   OMIM:601606 ;   OMIM:605041 ;   RDO:0002168 ;   RDO:0002243
Xrefs: GARD:10179
Definition Sources: https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome

paths to the root