Disease Index
9,486 diseasescombined cervical dystonia
human disease
combined deficiency of factor V and factor VIII
Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms
combined dystonia
dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)
combined hamartoma of the retina and retinal pigment epithelium
human disease
combined hyperactive dysfunction syndrome of the cranial nerves
human disease
combined immunodeficiency
primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity
ICD: D81
combined immunodeficiency due to CRAC channel dysfunction
deficiency (see these terms)
combined immunodeficiency due to MALT1 deficiency
human disease
combined immunodeficiency due to ORAI1 deficiency
deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis
MeSH: C557826
combined immunodeficiency due to OX40 deficiency
Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma
combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia
MeSH: C563691
combined immunodeficiency due to STIM1 deficiency
deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia
MeSH: C557827
combined immunodeficiency due to STK4 deficiency
human disease
combined immunodeficiency with faciooculoskeletal anomalies
human disease
MeSH: C567641
combined immunodeficiency with skin granulomas
human disease
combined malonic and methylmalonic acidemia
human disease
MeSH: C580002
combined oxidative phosphorylation defect type 25
human disease
combined oxidative phosphorylation defect type 26
human disease
combined oxidative phosphorylation defect type 27
human disease
combined oxidative phosphorylation defect type 30
human disease
combined oxidative phosphorylation deficiency
Human disease
combined oxidative phosphorylation deficiency 11
human disease
combined oxidative phosphorylation deficiency 13
human disease
combined oxidative phosphorylation deficiency 14
human disease
combined oxidative phosphorylation deficiency 15
human disease
combined oxidative phosphorylation deficiency 17
human disease
combined oxidative phosphorylation deficiency 2
human disease
combined oxidative phosphorylation deficiency 20
human disease
combined oxidative phosphorylation deficiency 21
human disease
combined oxidative phosphorylation deficiency 23
human disease