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
MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13	View info
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2	View info
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3	View info
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A	View info
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B	View info
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A	View info
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9	View info
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS	View info
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT	View info
MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE; LIMM	View info
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY	View info
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY; MPYCD	View info
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D	View info
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD	View info
MITRAL VALVE PROLAPSE 2; MVP2	View info
MIYOSHI MUSCULAR DYSTROPHY 1; MMD1	View info
MIYOSHI MUSCULAR DYSTROPHY 3; MMD3	View info
MOEBIUS SYNDROME	View info
MOEBIUS SYNDROME; MBS	View info
MOHR-TRANEBJAERG SYNDROME; MTS	View info

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