Ontology Browser

Term:
Muckle-Wells syndrome (DOID:0050854)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2)
Parent Terms Term With Siblings Child Terms
amyloidosis +     
Deafness +     
urticaria +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
Absence of Tibia with Congenital Deafness 
achondrogenesis type II  
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 +   
Albinism Deafness Syndrome 
Alexander Disease  
allergic urticaria 
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  
Amyloid Neuropathies +   
Andersen-Tawil syndrome  
angioedema +   
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
APP-related cerebral amyloid angiopathy  
Aquagenic Urticaria 
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  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
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 nonsyndromic deafness 65  
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 +   
Ayazi Syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Bart-Pumphrey syndrome  
Beare-Stevenson cutis gyrata syndrome  
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  
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Brooke-Spiegler syndrome  
Brown-Vialetto-Van Laere syndrome +   
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
bullous congenital ichthyosiform erythroderma  
Burn-Mckeown Syndrome  
CADASIL 1  
CADASIL 2  
campomelic dysplasia +   
Cardioauditory Syndrome of Sanchez Cascos 
Carney complex +   
cerebral amyloid angiopathy +   
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 +   
CINCA syndrome  
Clouston syndrome  
Cold Hypersensitivity  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, and Onychodystrophy, Autosomal Dominant  
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
Congenital Myopathy with Neuropathy and Deafness  
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
Costello syndrome  
Cowden syndrome +   
Coxoauricular Syndrome 
Crouzon syndrome-acanthosis nigricans syndrome  
Culler-Jones syndrome  
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
DEAFNESS AND MYOPIA  
Deafness Hyperuricemia Neurologic Ataxia 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, Nonsyndromic, Modifier 1  
Deafness, with Smith-Magenis Syndrome  
Deafness, X-Linked 6  
Denys-Drash syndrome  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Duane-radial ray syndrome  
dysplastic nevus syndrome +   
EEC syndrome +   
epidermolysis bullosa simplex generalized type  
epidermolysis bullosa simplex localized type  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Familial Amyloidosis +   
familial cold autoinflammatory syndrome +   
familial cold autoinflammatory syndrome 1  
familial cold autoinflammatory syndrome 3  
familial cold autoinflammatory syndrome 4  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
Feingold syndrome +   
Fine-Lubinsky Syndrome 
Finnish type amyloidosis  
Fountain Syndrome 
Frasier syndrome  
Hajdu-Cheney syndrome  
hand-foot-genital syndrome  
hereditary breast ovarian cancer syndrome  
hereditary hemorrhagic telangiectasia +   
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 24 
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  
Herrmann Syndrome 
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Holt-Oram syndrome  
Hyperlipoproteinemia Type II, and Deafness 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
hypomyelinating leukodystrophy 6  
hypophosphatasia +   
Ichthyosiform Erythroderma, Corneal Involvement, Deafness 
ichthyosis vulgaris +   
IMMUNODEFICIENCY 31C  
Immunoglobulin Light-chain Amyloidosis   
iridogoniodysgenesis syndrome +   
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
juvenile glaucoma  
juvenile polyposis syndrome +   
Konigsmark Knox Hussels Syndrome 
LADD syndrome  
Larsen syndrome  
LEOPARD syndrome +   
Li-Fraumeni syndrome +   
Loeys-Dietz syndrome +   
Lynch Lee Murday syndrome 
Lynch syndrome +   
macrocephaly-autism syndrome  
malignant hyperthermia +   
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
mandibulofacial dysostosis, Guion-Almeida type  
maturity-onset diabetes of the young +   
Meier-Gorlin syndrome 6  
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Deafness Syndrome 
mitochondrial DNA depletion syndrome 12a  
monilethrix +   
Muckle-Wells syndrome  
multiple cutaneous and mucosal venous malformations  
Multiple Endocrine Neoplasia +   
Multiple Synostoses Syndrome 1  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
nail-patella syndrome +   
Nasodigitoacoustic Syndrome  
Nathalie Syndrome 
Nephrosis Deafness Urinary Tract Digital Malformation 
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
ocular albinism with sensorineural deafness  
Opitz GBBB Syndrome, Type II  
Opticocochleodentate Degeneration 
ovarian dysgenesis 8  
pachyonychia congenita +   
Pallister-Hall syndrome +   
PAPA syndrome  
Papular Urticaria 
paraganglioma +   
paramyloidosis 
Pelger-Huet anomaly +   
permanent neonatal diabetes mellitus +   
Perrault syndrome +   
photosensitive trichothiodystrophy +   
physical urticaria +   
piebaldism +   
polycystic liver disease +   
popliteal pterygium syndrome +   
proximal symphalangism  
punctate palmoplantar keratoderma type III 
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
renal coloboma syndrome  
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Rubinstein-Taybi syndrome +   
SADDAN  
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
Sinoatrial Node Dysfunction and Deafness  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
Stickler syndrome +   
tarsal-carpal coalition syndrome  
temtamy preaxial brachydactyly 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 +   
type 1 diabetes mellitus 2  
Urticaria, Familial Localized Heat 
Waardenburg's syndrome +   
Wells Jankovic Syndrome 
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-Linked Mental Retardation Gustavson Type 
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
Y-Linked Deafness +   
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Exact Synonyms: CAPS2 ;   MWS ;   UDA syndrome ;   cryopyrin-associated periodic syndrome 2 ;   urticaria-deafness-amyloidosis syndrome
Primary IDs: OMIM:191900
Alternate IDs: RDO:0008193 ;   RDO:9000013
Xrefs: GARD:8472

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