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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: Incontinentia Pigmenti (D007184)
..Starting node ..Incontinentia pigmenti, familial male-lethal type (C531716)
Child Nodes:
Sister Nodes:
..HYPOMELANOSIS OF ITO (OMIM:300337)
..Incontinentia pigmenti, familial male-lethal type (C531716)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5767
Name:	Incontinentia pigmenti, familial male-lethal type
Definition:
Alternative IDs:
ParentIDs:	MESH:D007184
TreeNumbers:	C16.131.077.445/C531716 \|C16.131.831.580/C531716 \|C16.320.850.420/C531716 \|C17.800.621.497/C531716 \|C17.800.804.580/C531716 \|C17.800.827.420/C531716
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Skin disease
Reference:	MedGen: C531716 MeSH: C531716 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants