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
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1	View info
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2	View info
ARTHROGRYPOSIS-LIKE SYNDROME	View info
ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME	View info
ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC	View info
ARTS SYNDROME; ARTS	View info
ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD	View info
ASPARTYLGLUCOSAMINURIA	View info
ASPARTYLGLUCOSAMINURIA; AGU	View info
ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1; ASPG1	View info
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1; ASPGX1	View info
ASTHMA, SUSCEPTIBILITY TO	View info
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD	View info
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH	View info
ATAXIA-OCULOMOTOR APRAXIA 3; AOA3	View info
ATAXIA-OCULOMOTOR APRAXIA 4; AOA4	View info
ATAXIA-PANCYTOPENIA SYNDROME; ATXPC	View info
ATAXIA-TELANGIECTASIA-LIKE DISORDER	View info
ATAXIA-TELANGIECTASIA-LIKE DISORDER 1; ATLD1	View info
ATELOSTEOGENESIS, TYPE I; AO1	View info

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