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, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: immune system disease (MONDO:0005046)
..Starting node ..immunodeficiency-related disorder ()
Child Nodes:
........AIDS-related disorder ()
Sister Nodes:
..acquired immunodeficiency ()
..aggressive insulitis ()
..anti-HLA hyperimmunization ()
..benign insulitis ()
..bone marrow disease ()
..cerebral toxoplasmosis ()
..chronic inflammatory demyelinating polyneuropathy ()
..geotrichosis ()
..graft versus host disease ()
..granulomatosis with polyangiitis ()
..hypersensitivity reaction disease ()
..immune deficiency with skin involvement ()
..immune system cancer ()
..immune system organ benign neoplasm ()
..immunodeficiency disease ()
..immunodeficiency-related disorder ()
..immunoproliferative disorder ()
..infantile-onset periodic fever-panniculitis-dermatosis syndrome ()
..inflammatory bowel disease ()
..leukocyte disease ()
..lymphoid system disease ()
..multiple chemical sensitivity ()
..primary immunodeficiency disease ()
..psoriasis ()
..simian acquired immunodeficiency syndrome ()
..spondyloarthropathy ()
..thrombocytopenic purpura ()
..thymus gland disease ()
..twin to twin transfusion syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	24572
Name:	immunodeficiency-related disorder
Definition:	A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	immunodeficiency-related disorder; Immunodepression-related disorder; Immunosuppression disorders; Immunosuppression-related disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal