MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Ectodermal Dysplasia (D004476)
Parent Node: Hyper-IgM Immunodeficiency Syndrome, Type 1 (D053307)
..Starting node ..Hyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic (C564542)
Child Nodes:
Sister Nodes:
..Hyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic (C564542)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5866
Name:	Hyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic
Definition:
Alternative IDs:
ParentIDs:	MESH:D004476\|MESH:D053307
TreeNumbers:	C15.378.147.333.249.500/C564542 \|C16.131.077.350/C564542 \|C16.131.831.350/C564542 \|C16.320.322.237/C564542 \|C16.320.850.250/C564542 \|C17.800.804.350/C564542 \|C17.800.827.250/C564542 \|C20.673.430.249.500/C564542
Synonyms:	Xhm-Ed
Slim Mappings:	Blood disease\|Congenital abnormality\|Genetic disease (inborn)\|Immune system disease\|Skin disease
Reference:	MedGen: C564542 MeSH: C564542 OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal