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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
brachydactyly +     
Deafness +     
Distal Symphalangism +     
multiple synostoses syndrome +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
Absence of Tibia with Congenital Deafness 
acrocapitofemoral dysplasia  
Albinism Deafness Syndrome 
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant nonsyndromic deafness 65  
Ayazi Syndrome 
Ballard syndrome 
Berk-Tabatznik Syndrome 
Bork Stender Schmidt Syndrome 
brachydactyly type A1 +   
brachydactyly type A2 +   
brachydactyly type A3 
brachydactyly type A4  
Brachydactyly Type A5 Nail Dysplasia 
brachydactyly type A6 
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type C  
brachydactyly type D +   
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachydactyly, Long-Thumb Type 
Brachydactyly, Type E +   
Brachydactyly-Nystagmus-Cerebellar Ataxia 
brachydactyly-preaxial hallux varus syndrome 
brachydactyly-syndactyly syndrome  
Branchiogenic-Deafness Syndrome 
Burn-McKeown syndrome  
Cardioauditory Syndrome of Sanchez Cascos 
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly  
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula with Type B Brachydactyly 
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
Congenital Myopathy with Neuropathy and Deafness  
Coxoauricular Syndrome 
Cryptomicrotia Brachydactyly Syndrome 
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
Deafness, with Smith-Magenis Syndrome  
Digital Arthropathy-Brachydactyly, Familial  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Fibular Aplasia Ectrodactyly 
fibular hypoplasia and complex brachydactyly  
Fine-Lubinsky Syndrome  
Fitzsimmons-Guilbert Syndrome 
Fountain Syndrome 
GOMBO Syndrome 
Grange Syndrome  
heart-hand syndrome type 3 
hereditary spastic paraplegia 24 
Herrmann Syndrome 
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hyperlipoproteinemia Type II, and Deafness 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
hypertension and brachydactyly syndrome  
Hypokalemic Tubulopathy and Deafness  
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Keipert syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
Konigsmark Knox Hussels Syndrome 
Kumar Levick Syndrome 
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
Lynch Lee Murday syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Deafness Syndrome 
Mononen-Karnes-Senac syndrome 
Muckle-Wells syndrome  
multiple synostoses syndrome 1  
A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. (DO)
multiple synostoses syndrome 2  
multiple synostoses syndrome 3  
multiple synostoses syndrome 4  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
Nathalie Syndrome 
Nephrosis with Deafness and Urinary Tract and Digital Malformations 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
Opticocochleodentate Degeneration 
Perrault syndrome +   
Prata Libéral Gonçalves Syndrome 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 
Ramos Arroyo Clark Syndrome 
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Siddiqi syndrome  
Sillence Syndrome 
Sinoatrial Node Dysfunction and Deafness  
spastic paraplegia with deafness 
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 
Sugarman brachydactyly 
temtamy preaxial brachydactyly syndrome  
Tietz syndrome  
Tonoki Syndrome 
Ulnar/Fibular Ray Defect and Brachydactyly  
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-linked mental retardation Gustavson type  
X-linked mental retardation-hypotonic facies syndrome-1  
X-linked retinitis pigmentosa and sinorespiratory infections  
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Exact Synonyms: DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN ;   FACIOAUDIOSYMPHALANGISM SYNDROME ;   SYMPHALANGISM-BRACHYDACTYLY SYNDROME ;   SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY ;   SYNS1 ;   WL SYNDROME
Alternate IDs: DOID:9007208
Xrefs: GARD:3836 ;   MIM:186500
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/11846737/ "DO" "DO"

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