MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*: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 ..cerebral toxoplasmosis ()
Child Nodes:
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:	5697
Name:	cerebral toxoplasmosis
Definition:	Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	encephalitis due to acquired toxoplasmosis; meningoencephalitis due to toxoplasmosis; Toxoplasma encephalitis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: SLC20A2;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal