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
PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1	View info
PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2	View info
PITUITARY ADENOMA, PROLACTIN-SECRETING	View info
PITUITARY APOPLEXY	View info
PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1	View info
PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3	View info
PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6	View info
PITUITARY STALK INTERRUPTION SYNDROME	View info
PITYRIASIS RUBRA PILARIS; PRP	View info
PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY	View info
PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID	View info
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT	View info
PLEUROPULMONARY BLASTOMA; PPB	View info
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP	View info
POLYCYSTIC KIDNEY DISEASE 1; PKD1	View info
POLYCYSTIC KIDNEY DISEASE 3; PKD3	View info
POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE; PKD4	View info
POLYCYSTIC KIDNEY DISEASE 5; PKD5	View info
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL	View info
POLYCYSTIC LIVER DISEASE 1; PCLD1	View info

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