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
PHEOCHROMOCYTOMA	View info
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC; PCKDC	View info
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL; PCKDM	View info
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY	View info
PHOSPHOHYDROXYLYSINURIA; PHLU	View info
PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	View info
PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PSATD	View info
PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD	View info
PIEBALD TRAIT; PBT	View info
PIERPONT SYNDROME; PRPTS	View info
PIERSON SYNDROME	View info
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR	View info
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1	View info
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2	View info
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4	View info
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA	View info
PILAROWSKI-BJORNSSON SYNDROME; PILBOS	View info
PILOMATRIXOMA	View info
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES	View info
PITT-HOPKINS SYNDROME; PTHS	View info

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