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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: Granuloma (D006099)
Parent Node: Necrobiotic Disorders (D017441)
Parent Node: Xanthomatosis (D014973)
..Starting node ..Necrobiotic Xanthogranuloma (D058252)
Child Nodes:
Sister Nodes:
..Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis (C566263)
..Necrobiotic Xanthogranuloma (D058252)
..Xanthogranulomatous cholecystitis (C536762)
..Xanthogranulomatous sialadenitis (C536763)
..Xanthomatosis, Cerebrotendinous (D019294)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7797
Name:	Necrobiotic Xanthogranuloma
Definition:	A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement.
Alternative IDs:
ParentIDs:	MESH:D006099\|MESH:D014973\|MESH:D017441
TreeNumbers:	C15.604.515.292.507 \|C17.300.200.495.772 \|C17.800.550.772 \|C18.452.584.750.487 \|C23.550.382.984
Synonyms:	Necrobiotic Xanthogranulomas \|Xanthogranuloma, Necrobiotic \|Xanthogranulomas, Necrobiotic
Slim Mappings:	Connective tissue disease\|Lymphatic disease\|Metabolic disease\|Pathology (process)\|Skin disease
Reference:	MedGen: D058252 MeSH: D058252 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants