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
PACHYONYCHIA CONGENITA 1; PC1	View info
PACHYONYCHIA CONGENITA 2; PC2	View info
PACHYONYCHIA CONGENITA 3; PC3	View info
PAGET DISEASE OF BONE 2, EARLY-ONSET; PDB2	View info
PAGET DISEASE OF BONE 5, JUVENILE-ONSET; PDB5	View info
PALLISTER-HALL SYNDROME	View info
PALLISTER-HALL SYNDROME; PHS	View info
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC	View info
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; PPKCA1	View info
PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1	View info
PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB	View info
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK	View info
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES	View info
PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE; PPKN	View info
PALMOPLANTAR KERATODERMA, NORRBOTTEN RECESSIVE TYPE; PPKNR	View info
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2	View info
PANCREATIC LIPASE DEFICIENCY; PNLIPD	View info
PANCREATITIS, HEREDITARY; PCTT	View info
PAPILLOMA OF CHOROID PLEXUS	View info
PAPILLOMA OF CHOROID PLEXUS; CPP	View info

129 of 172