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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: Arteriovenous Fistula (D001164)
Parent Node: Neurocutaneous Syndromes (D020752)
..Starting node ..Wyburn Mason's syndrome (C536752)
Child Nodes:
Sister Nodes:
..Angioma hereditary neurocutaneous (C536364)
..Ataxia Telangiectasia (D001260) 6
..Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..Elejalde Disease (C536203)
..Encephalocraniocutaneous lipomatosis (C535736)
..Gomez Lopez Hernandez syndrome (C537285)
..Johnson neuroectodermal syndrome (C535882)
..Neurocutaneous melanosis (C537387)
..Neurofibromatoses (D017253) 13
..Nevus, Sebaceous of Jadassohn (D054000) 1
..PHACE association (C537892)
..Phacomatosis pigmentovascularis (C537894)
..Sturge-Weber Syndrome (D013341) 1
..Tuberous Sclerosis (D014402) 4
..von Hippel-Lindau Disease (D006623)
..Wyburn Mason's syndrome (C536752)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11803
Name:	Wyburn Mason's syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D001164\|MESH:D020752
TreeNumbers:	C10.562/C536752 \|C14.240.850.750.147/C536752 \|C14.240.850.984.750/C536752 \|C14.907.150.125/C536752 \|C14.907.933.555/C536752 \|C16.131.077.350.712/C536752 \|C16.131.240.850.750.125/C536752 \|C16.131.831.350.712/C536752 \|C16.320.850.250.712/C536752 \|C17.800.804.350.71
Synonyms:	Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes \|Wyburn Mason syndrome
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Genetic disease (inborn)\|Nervous system disease\|Pathology (anatomical condition)\|Skin disease
Reference:	MedGen: C536752 MeSH: C536752 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants