Rare diseases

Rare diseases are among the hardest to diagnose. We believe medical doctors would benefit from an organised list of disorders from the disparate organisations and medical resources available. In the same way NORD and Eurodis provide information and support for patients, we collaborate with and provide information for health researchers and professionals. From here you can browse orphan, genetic or rare disorders along with summary statistics and links to further information.

Rare Diseases by name

Name
IMMUNODEFICIENCY 50; IMD50	View info
IMMUNODEFICIENCY 51; IMD51	View info
IMMUNODEFICIENCY 8; IMD8	View info
IMMUNODEFICIENCY 9; IMD9	View info
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2	View info
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3	View info
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5	View info
IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA	View info
IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10	View info
IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12	View info
IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1	View info
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8	View info
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH	View info
IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN	View info
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1	View info
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2	View info
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3	View info
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4	View info
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX	View info
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1; IBMPFD1	View info

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