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
ALKAPTONURIA; AKU	View info
ALLAN-HERNDON-DUDLEY SYNDROME; AHDS	View info
ALOPECIA AREATA 1; AA1	View info
ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD	View info
ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD	View info
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD	View info
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1	View info
ALPHA-THALASSEMIA	View info
ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS	View info
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED	View info
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY	View info
ALPORT SYNDROME, AUTOSOMAL DOMINANT	View info
ALPORT SYNDROME, X-LINKED; ATS	View info
ALSTROM SYNDROME; ALMS	View info
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1	View info
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2	View info
ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; ACDMPV	View info
ALVEOLAR SOFT PART SARCOMA; ASPS	View info
ALZHEIMER DISEASE 2; AD2	View info
ALZHEIMER DISEASE 4	View info

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