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
PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C	View info
PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP	View info
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH	View info
PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE	View info
PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	View info
PSEUDOXANTHOMA ELASTICUM-LIKE SKIN MANIFESTATIONS WITH RETINITIS PIGMENTOSA	View info
PSEUDOXANTHOMA ELASTICUM; PXE	View info
PSEUDOXANTHOMATOUS DIFFUSE CUTANEOUS MASTOCYTOSIS	View info
PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1	View info
PSORIASIS 14, PUSTULAR; PSORS14	View info
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO; PSORS15	View info
PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM	View info
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD	View info
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1	View info
PULMONARY FIBROSIS, IDIOPATHIC; IPF	View info
PULMONARY HYPERTENSION, PRIMARY, 1; PPH1	View info
PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1	View info
PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY	View info
PYCNODYSOSTOSIS	View info
PYLE DISEASE; PYL	View info

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