MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome

ORPHA:529977Disease
Autosomal recessive

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

ORPHA:37042Disease
X-linked recessive

Immune thrombocytopenia

ORPHA:3002Disease
Not applicable

Immune-mediated necrotizing myopathy

ORPHA:206569Disease
Not applicable

Immune-mediated scleritis

ORPHA:648681Disease

Immunodeficiency by defective expression of MHC class I

ORPHA:34592Disease
Autosomal recessive

Immunodeficiency by defective expression of MHC class II

ORPHA:572Disease
Autosomal recessive

Immunodeficiency due to CD25 deficiency

ORPHA:169100Disease
Autosomal recessive

Immunodeficiency due to MASP-2 deficiency

ORPHA:331187Disease
Autosomal recessive

Immunodeficiency due to a classical component pathway complement deficiency

ORPHA:169147Disease
Autosomal recessive

Immunodeficiency due to a late component of complement deficiency

ORPHA:169150Disease
Autosomal recessive

Immunodeficiency due to ficolin3 deficiency

ORPHA:331190Disease
Autosomal recessive

Immunodeficiency due to selective anti-polysaccharide antibody deficiency

ORPHA:70593Disease
Multigenic/multifactorial

Immunodeficiency with factor H anomaly

ORPHA:200421Disease
Autosomal dominant, Autosomal recessive

Immunodeficiency with factor I anomaly

ORPHA:200418Disease
Autosomal recessive

Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome

ORPHA:714496Disease
Autosomal recessive

Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome

ORPHA:695807Disease
Autosomal dominant

Immunoglobulin A vasculitis

ORPHA:761Disease
Not applicable

Immunotactoid glomerulopathy

ORPHA:97567Disease
Not applicable

Immunotherapy induced hypophysitis

ORPHA:641350Disease

Incessant infant ventricular tachycardia

ORPHA:45453Disease
Not applicable

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

ORPHA:52430Disease
Autosomal dominant

Inclusion body myositis

ORPHA:611Disease
Not applicable

Indeterminate cell histiocytosis

ORPHA:158019Disease
Not applicable