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
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3	View info
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4	View info
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX	View info
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1; IBMPFD1	View info
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2	View info
INCONTINENTIA PIGMENTI	View info
INCONTINENTIA PIGMENTI; IP	View info
INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP	View info
INFANTILE LIVER FAILURE SYNDROME 2; ILFS2	View info
INFANTILE SIALIC ACID STORAGE DISEASE; ISSD	View info
INFANTILE SYSTEMIC HYALINOSIS	View info
INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS	View info
INFLAMMATORY BOWEL DISEASE 13; IBD13	View info
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2	View info
INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES	View info
INSULINOMA	View info
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA	View info
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP	View info
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP	View info
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF	View info

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