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
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F	View info
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F	View info
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB	View info
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE	View info
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA	View info
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB	View info
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C; CMTRIC	View info
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID	View info
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1	View info
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2	View info
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D	View info
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H	View info
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J	View info
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K; CMT4K	View info
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1	View info
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6; CMTX6	View info
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5	View info
CHARGE SYNDROME	View info
CHEDIAK-HIGASHI SYNDROME; CHS	View info
CHERUBISM	View info

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