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
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1; IHPS1	View info
PYOGENIC ARTHRITIS-PYODERMA GANGRENOSUM-ACNE SYNDROME	View info
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	View info
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD	View info
PYRIDOXINE-DEPENDENT EPILEPSY	View info
PYROPOIKILOCYTOSIS, HEREDITARY; HPP	View info
PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD	View info
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY; PDHXD	View info
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD	View info
QUEBEC PLATELET DISORDER; QPD	View info
RADIN BLOOD GROUP ANTIGEN; RD	View info
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2	View info
RAHMAN SYNDROME; RMNS	View info
RAMON SYNDROME	View info
RAPADILINO SYNDROME	View info
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER; RALD	View info
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA	View info
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE	View info
RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME	View info
RECESSIVE X-LINKED ICHTHYOSIS	View info

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