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Ontology Browser

Term:
VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE (DOID:9003774)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
neuropathy +     
Acrootoocular Syndrome 
agenesis of the corpus callosum with peripheral neuropathy  
aminoglycoside-induced deafness  
Ataxia, Deafness, and Cardiomyopathy 
Athabaskan brainstem dysgenesis syndrome  
Auditory Neuropathy, Nonsyndromic Recessive 
autonomic peripheral neuropathy 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant nonsyndromic deafness +   
autosomal recessive nonsyndromic deafness +   
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development  
autosomal recessive spinocerebellar ataxia 19  
autosomal-mitochondrial sensorineural deafness  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
axonal neuropathy +   
Ayme-Gripp syndrome  
BADS syndrome 
Bart-Pumphrey syndrome  
Bartter disease type 4A  
Bartter disease type 4b  
Bjornstad syndrome  
Boudhina Yedes Khiari syndrome 
brachial plexus neuropathy +   
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brown-Vialetto-Van Laere syndrome +   
CAPOS Syndrome  
Cataract Ataxia Deafness 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome  
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
Chitty Hall Baraitser Syndrome 
Chudley-Mccullough syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Combined Pituitary Hormone Deficiency, 3  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness with Total Albinism 
Congenital Ectodermal Dysplasia with Hearing Loss 
corneal dystrophy-perceptive deafness syndrome  
cortical deafness +   
cranial nerve disease +   
craniofacial-deafness-hand syndrome  
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
De Hauwere syndrome 
Deafness Oligodontia Syndrome 
Deafness, Progressive High-Tone Neural 
deafness-intellectual disability, Martin-Probst type syndrome  
diabetic neuropathy +   
dilated cardiomyopathy 1J  
distal arthrogryposis type 6 
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis 3, Autosomal Recessive  
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
DOORS syndrome  
EAST syndrome  
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness  
Ermine Phenotype 
erythromelalgia  
familial episodic pain syndrome +   
Fitzsimmons Walson Mellor Syndrome 
Flynn Aird Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Gemignani Syndrome 
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Griscelli syndrome +   
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
Heimler syndrome 1  
Hereditary Motor Neuropathy with Myopathic Features  
hereditary sensory neuropathy +   
HID Syndrome  
high myopia-sensorineural deafness syndrome  
High-Frequency Hearing Loss +   
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
Homozygous 11p15-p14 Deletion Syndrome 
hypoparathyroidism-deafness-renal disease syndrome  
inflammatory and toxic neuropathy +   
Insulin-Like Growth Factor I Deficiency  
ischemic neuropathy 
Johanson-Blizzard syndrome  
Kilquist Syndrome  
Marshall syndrome +   
Mid-Tone Neural Deafness 
mononeuropathy +   
motor peripheral neuropathy +   
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME  
MYH-9 related disease +   
Nephropathy Deafness Hyperparathyroidism 
neuritis +   
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
neuromuscular disease +   
Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 
Nonsyndromic Sensorineural Hearing Loss +   
ocular albinism with sensorineural deafness  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
otospondylomegaepiphyseal dysplasia, autosomal recessive  
palmoplantar keratoderma-deafness syndrome  
Paragangliomas with Sensorineural Hearing Loss  
Pendred syndrome  
Perrault Syndrome 1  
Pfeiffer Kapferer Syndrome 
Pigmentary Retinopathy and Sensorineural Deafness  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
Progressive Nephropathy with Deafness 
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Retinitis Pigmentosa Inversa with Deafness 
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction  
Schaap Taylor Baraitser Syndrome 
Sensorineural Deafness and Male Infertility  
Sensorineural Deafness and Migraine  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
Sensorineural Deafness with Mild Renal Dysfunction  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
sensory peripheral neuropathy  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis  
Sudden Hearing Loss  
thiamine-responsive megaloblastic anemia syndrome  
Townes-Brocks syndrome +   
Treft Sanborn Carey Syndrome 
Tunglang Savage Bellman Syndrome 
Usher syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE  
This disease is characterized by intestinal dysmotility due to aganglionosis or hypoganglionosis of the colon. Patients also exhibit peripheral axonal neuropathy, ptosis, and sensorineural hearing loss.
Vohwinkel syndrome  
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
X-linked nonsyndromic deafness +   

Synonyms
Exact Synonyms: VSCN2
Primary IDs: OMIM:619465
Definition Sources: OMIM:619465

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