Disease Browser
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Parent Node: Dystonia (D004421) | Parent Node: Leukoencephalopathies (D056784) | Parent Node: Polyneuropathies (D011115) | ..Starting node ..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
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Sister Nodes: | ..46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
| ..Alcoholic Neuropathy (D020269)
| ..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
| ..Ataxia and Polyneuropathy, Adult-Onset (C564020)
| ..Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
| ..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
| ..Hereditary Sensory and Motor Neuropathy (D015417) 164
| ..Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
| ..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
| ..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
| ..Neuropathy, Hereditary Sensory, Atypical (C564946)
| ..Optic atrophy polyneuropathy deafness (C537129)
| ..Paraneoplastic Polyneuropathy (D020364)
| ..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
| ..POEMS Syndrome (D016878)
| ..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
| ..Polyradiculoneuropathy (D011129) 18
| ..Ribose 5-Phosphate Isomerase Deficiency (C563212)
| ..Severe infantile axonal neuropathy (C537593)
| ..Tangier Disease (D013631)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 6396 |
Name: | LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D004421|MESH:D011115|MESH:D056784 |
TreeNumbers: | C10.228.140.695/613724 |C10.597.350.300/613724 |C10.668.829.800/613724 |C23.888.592.350.300/613724 |
Synonyms: | STEROL CARRIER PROTEIN 2 DEFICIENCY |
Slim Mappings: | Nervous system disease|Signs and symptoms |
Reference: |
MedGen: 613724
MeSH: 613724
OMIM: 613724;
Genes: SCP2; | Phenotypes | | Disease Causing ClinVar Variants | |
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