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Ontology Browser

Parent Terms Term With Siblings Child Terms
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy  
ABCD syndrome  
adult-onset ataxia and polyneuropathy  
Al Gazali Hirschsprung Syndrome 
alcoholic neuropathy  
Alexander Disease  
Bresheck/Bresek Syndrome 
Canavan disease  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
chronic polyneuropathy +  
Cockayne syndrome +   
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
demyelinating polyneuropathy +   
Dystonia Musculorum Deformans +   
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
Goldberg-Shprintzen syndrome  
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
Hirschsprung Disease 1  
Hirschsprung Disease Ganglioneuroblastoma  
Hirschsprung Disease Polydactyly Heart Disease 
Hirschsprung Disease Type 3 
Hirschsprung Disease Type d Brachydactyly 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction  
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
idiopathic progressive polyneuropathy 
Kennedy's disease  
Lafora disease  
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 
Laurence Prosser Rocker Syndrome 
Leukoencephalopathy with Dystonia and Motor Neuropathy  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Mental Retardation, X-Linked +   
microphthalmia with limb anomalies  
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
Mowat-Wilson syndrome  
myotonia congenita +   
myotonic dystrophy type 1 +   
neuroacanthocytosis +   
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
paraneoplastic polyneuropathy 
PCWH syndrome  
A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. (DO)
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
PHARC syndrome  
POEMS syndrome 
Polyendocrine-Polyneuropathy Syndrome  
polyneuropathy in collagen vascular disease 
polyradiculoneuropathy +   
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
Progressive Psychomotor Deterioration  
Ribose 5-Phosphate Isomerase Deficiency  
Santos Mateus Leal Syndrome 
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
sensory peripheral neuropathy  
Severe Infantile Axonal Neuropathy 
spinal muscular atrophy with lower extremity predominance +   
Spongiform Encephalopathy with Neuropsychiatric Features  
syndromic microphthalmia 10 
Tangier disease  
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Total Intestinal Aganglionosis  
tuberous sclerosis +   
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Unverricht-Lundborg syndrome +   
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome  
Waardenburg syndrome type 1  
Waardenburg syndrome type 2A  
Waardenburg syndrome type 2B 
Waardenburg syndrome type 2C 
Waardenburg syndrome type 2D  
Waardenburg syndrome type 2E  
Waardenburg syndrome type 3  
Waardenburg Syndrome Type 4 +   
Waardenburg syndrome type 4A  
Waardenburg syndrome type 4B  
Waardenburg syndrome type 4C  
Wilson disease +   

Exact Synonyms: PCWH ;   Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease ;   Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome ;   Waardenburg-Shah syndrome, neurologic variant ;   neurologic Waardenburg-Shah syndrome
Primary IDs: MESH:C563789
Alternate IDs: OMIM:609136
Xrefs: ICD10CM:E75.2 ;   ORDO:163746
Definition Sources: url: "DO", url: "DO"

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