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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Deafness +     
Muscle Spasticity +     
quadriplegia +     
speech disorder +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
Absence of Tibia with Congenital Deafness 
Absent Eyebrows and Eyelashes with Mental Retardation 
AGAT deficiency  
Albinism Deafness Syndrome 
Alexander disease  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
articulation disorder +   
Atonic-Astatic Syndrome of Foerster 
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant nonsyndromic deafness 65  
Ayazi Syndrome 
Branchiogenic-Deafness Syndrome 
Burn-McKeown syndrome  
Canavan disease  
Cardioauditory Syndrome of Sanchez Cascos 
Cerebrocortical Degeneration of Infancy 
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood spinal muscular atrophy +   
Childhood-Onset Spasticity with Hyperglycinemia  
chromosome 17p13.1 deletion syndrome 
Cockayne syndrome +   
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 Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
Congenital Myopathy with Neuropathy and Deafness  
Coxoauricular 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  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
Diaminopentanuria 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
dystonia 9  
Dystonia Musculorum Deformans +   
echolalia 
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
Familial Partial Lipodystrophy Type 7  
Fine-Lubinsky Syndrome  
Fitzsimmons Walson Mellor Syndrome 
Focal Epilepsy with Speech Disorder and with or without Mental Retardation  
Fountain Syndrome 
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES  
Hengel-Maroofian-Schols syndrome  
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
hereditary spastic paraplegia 24 
Herrmann Syndrome 
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
Hyperlipoproteinemia Type II, and Deafness 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypokalemic Tubulopathy and Deafness  
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Keipert syndrome  
Kennedy's disease  
Keratitis-Ichthyosis-Deafness Syndrome +   
Konigsmark Knox Hussels Syndrome 
Koone Rizzo Elias Syndrome 
Lafora disease +   
Leukoencephalomyelopathy  
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
locked-in syndrome 
Lynch Lee Murday syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Maxillofacial Dysostosis 
Methylenetetrahydrofolate Reductase Deficiency  
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Deafness Syndrome 
Microcephaly with Spastic Quadriplegia  
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
Muckle-Wells syndrome  
multiple synostoses syndrome 1  
mutism  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
myotonia congenita +   
myotonic dystrophy type 1 +   
Nathalie Syndrome 
Nephrosis with Deafness and Urinary Tract and Digital Malformations 
neuroacanthocytosis +   
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA  
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language  
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
neurodevelopmental disorder with spasticity and poor growth  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES  
neurodevelopmental disorder with speech impairment and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS  
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
Non-Lissencephalic Cortical Dysplasia 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
Okur-Chung Neurodevelopmental Syndrome  
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration  
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Perrault syndrome +   
Popov-Chang Syndrome 
Powell Venencie Gordon syndrome 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
Progressive Psychomotor Deterioration  
Ramos Arroyo Clark Syndrome 
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED  
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Siddiqi syndrome  
Sinoatrial Node Dysfunction and Deafness  
spastic ataxia +   
spastic paraplegia with deafness 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
Speech Disturbance - Use of Faulty Phrasing and Unrelated Words 
speech-language disorder-1  
spinal muscular atrophy with predominant lower extremity +   
Spongiform Encephalopathy with Neuropsychiatric Features  
syndromic microphthalmia 10 
syndromic X-linked intellectual disability Turner type  
temtamy preaxial brachydactyly syndrome  
Tietz syndrome  
tuberous sclerosis +   
Unverricht-Lundborg syndrome +   
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE  
Vissers-Bodmer syndrome  
Webb-Dattani Syndrome  
Wilson disease +   
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-Linked Intellectual Developmental Disorders +   
X-linked intellectual disability-psychosis-macroorchidism 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
Primary IDs: MESH:C563002
Alternate IDs: MIM:258700

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