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Ontology Browser

Term:
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (DOID:9002852)
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Parent Terms Term With Siblings Child Terms
Deafness +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
Absence of Tibia with Congenital Deafness 
adjustment disorder  
Albinism Deafness Syndrome 
anxiety disorder +   
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant nonsyndromic deafness 65  
Ayazi Syndrome 
bestrophinopathy  
Branchiogenic-Deafness Syndrome 
Burn-McKeown syndrome  
Cardioauditory Syndrome of Sanchez Cascos 
Chromosome 18 Pericentric Inversion 
cognitive disorder +   
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Concentric Annular Macular Dystrophy  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital hypotrichosis with juvenile macular dystrophy  
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, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, with Smith-Magenis Syndrome  
degeneration of macula and posterior pole +   
developmental disorder of mental health +   
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
dissociative disorder +  
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Dravet syndrome  
early myoclonic encephalopathy +   
eating disorder +   
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Elimination Disorders +   
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
factitious disorder +  
familial adult myoclonic epilepsy +   
familial encephalopathy with neuroserpin inclusion bodies  
Feigenbaum Bergeron Richardson Syndrome 
Fine-Lubinsky Syndrome 
Fountain Syndrome 
Fragile Site 16p12 
gender identity disorder +  
Geographic Atrophy  
hereditary spastic paraplegia 24 
Herrmann Syndrome 
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 
Hydroxylysinuria 
Hyperlipoproteinemia Type II, and Deafness 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
impulse control disorder +   
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
juvenile myoclonic epilepsy +   
Keipert syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
Konigsmark Knox Hussels Syndrome 
Kuhnt-Junius degeneration +   
Luscan-Lumish syndrome  
Lynch Lee Murday syndrome 
Macular Degeneration, Early-Onset  
Macular Dystrophy with Central Cone Involvement  
Macular Dystrophy, Retinal, 3 
Macular Dystrophy, X-Linked +   
macular retinal edema +   
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Deafness Syndrome 
Motor Disorders  
Muckle-Wells syndrome  
Multiple Synostoses Syndrome 1  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonic Epilepsy, Familial Infantile  
Myoclonic Epilepsy, Hartung Type 
Myoclonic-Atonic Epilepsy  
Myoclonus, Cerebellar Ataxia, and Deafness 
Nathalie Syndrome 
Nephrosis Deafness Urinary Tract Digital Malformation 
Neurodevelopmental Disorders +   
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
occult macular dystrophy  
Opticocochleodentate Degeneration 
paraphilia disorder +  
patterned macular dystrophy +   
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections 
Perrault syndrome +   
personality disorder +   
Photoparoxysmal Response 3 
progressive myoclonus epilepsy +   
Ramos Arroyo Clark Syndrome 
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schizophrenia Spectrum and Other Psychotic Disorders +   
Schlegelberger Grote Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
sexual disorder +   
SIDDIQI SYNDROME  
Sinoatrial Node Dysfunction and Deafness  
sleep disorder +   
somatoform disorder +   
Sorsby's fundus dystrophy  
Spastic Paraplegia with Myoclonic Epilepsy 
Spongiform Encephalopathy with Neuropsychiatric Features  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
substance-related disorder +   
temtamy preaxial brachydactyly syndrome  
Tietz syndrome  
Trauma and Stressor Related Disorders +   
vitelliform macular dystrophy +   
Wells Jankovic Syndrome 
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-linked epilepsy with variable learning disabilities and behavior disorders  
X-Linked Mental Retardation Gustavson Type 
X-linked retinitis pigmentosa and sinorespiratory infections  
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Primary IDs: MESH:C565786
Alternate IDs: OMIM:604363

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