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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: Neurocutaneous Syndromes (D020752)
..Starting node ..Phacomatosis pigmentovascularis (C537894)
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:	8881
Name:	Phacomatosis pigmentovascularis
Definition:
Alternative IDs:
ParentIDs:	MESH:D020752
TreeNumbers:	C10.562/C537894 \|C16.131.077.350.712/C537894 \|C16.131.831.350.712/C537894 \|C16.320.850.250.712/C537894 \|C17.800.804.350.712/C537894 \|C17.800.827.250.712/C537894
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Nervous system disease\|Skin disease
Reference:	MedGen: C537894 MeSH: C537894 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants