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
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4	View info
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4; PEOB4	View info
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A	View info
PROLIDASE DEFICIENCY	View info
PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH	View info
PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS	View info
PROPERDIN DEFICIENCY, X-LINKED; CFPD	View info
PROPIONIC ACIDEMIA	View info
PROSTATE CANCER	View info
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	View info
PROTEUS SYNDROME	View info
PROTEUS-LIKE SYNDROME	View info
PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP	View info
PRUNE BELLY SYNDROME; PBS	View info
PSEUDO-TORCH SYNDROME 1; PTORCH1	View info
PSEUDOACHONDROPLASIA; PSACH	View info
PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A	View info
PSEUDOHYPOPARATHYROIDISM TYPE 1A	View info
PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A	View info
PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B	View info

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