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
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES	View info
POTOCKI-LUPSKI SYNDROME; PTLS	View info
POTOCKI-SHAFFER SYNDROME	View info
PRADER-WILLI SYNDROME; PWS	View info
PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS	View info
PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1	View info
PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2	View info
PRECOCIOUS PUBERTY, MALE-LIMITED	View info
PREECLAMPSIA/ECLAMPSIA 1; PEE1	View info
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1	View info
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2	View info
PREIMPLANTATION EMBRYONIC LETHALITY 1; PREMBL1	View info
PREMATURE AGING SYNDROME, PENTTINEN TYPE; PENTT	View info
PREMATURE CHROMATID SEPARATION TRAIT; PCS	View info
PREMATURE OVARIAN FAILURE 11; POF11	View info
PREMATURE OVARIAN FAILURE 1; POF1	View info
PREMATURE OVARIAN FAILURE 8; POF8	View info
PREMATURE OVARIAN FAILURE 9; POF9	View info
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES	View info
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA	View info

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