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
NEPHROTIC SYNDROME, TYPE 3; NPHS3	View info
NEPHROTIC SYNDROME, TYPE 4; NPHS4	View info
NEPHROTIC SYNDROME, TYPE 7; NPHS7	View info
NEPHROTIC SYNDROME, TYPE 9; NPHS9	View info
NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS	View info
NETHERTON SYNDROME; NETH	View info
NEU-LAXOVA SYNDROME 2; NLS2	View info
NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS	View info
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD	View info
NEURALGIC AMYOTROPHY	View info
NEURAMINIDASE DEFICIENCY	View info
NEUROBLASTOMA	View info
NEUROBLASTOMA, SUSCEPTIBILITY TO	View info
NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY	View info
NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP	View info
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1	View info
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3	View info
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5	View info
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6; NBIA6	View info
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW	View info

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