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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Brain Diseases, Metabolic (D001928)
Parent Node: Demyelinating Diseases (D003711)
..Starting node ..Myelinolysis, Central Pontine (D017590)
Child Nodes:
Sister Nodes:
..Boylan Dew Greco syndrome (C537083)
..CAMFAK syndrome (C537965)
..Demyelinating Autoimmune Diseases, CNS (D020278) 15
..Groll Hirschowitz syndrome (C537305)
..Hamano Tsukamoto syndrome (C535625)
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..Leukoencephalopathy, Progressive Multifocal (D007968)
..Marchiafava-Bignami Disease (D054319)
..Myelinolysis, Central Pontine (D017590)
..Ophthalmoplegic Migraine (D060486)
..Polyradiculoneuropathy (D011129) 18
..Subacute Combined Degeneration (D052879)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7611
Name:	Myelinolysis, Central Pontine
Definition:	A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)
Alternative IDs:
ParentIDs:	MESH:D001928\|MESH:D003711
TreeNumbers:	C10.228.140.163.560 \|C10.314.500 \|C18.452.132.560
Synonyms:	Central Pontine Myelinoclasis \|Central Pontine Myelinolysis \|Extrapontine Myelinoclases \|Extrapontine Myelinoclasis \|Extrapontine Myelinolyses \|Extrapontine Myelinolysis \|Myelinoclases, Extrapontine \|Myelinoclasis, Central Pontine \|Myelinoclasis, Extrapontine \|My
Slim Mappings:	Metabolic disease\|Nervous system disease
Reference:	MedGen: D017590 MeSH: D017590 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants