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
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN	View info
INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME	View info
INTERMEDIATE NEMALINE MYOPATHY	View info
INTERSTITIAL LUNG AND LIVER DISEASE; ILLD	View info
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL; ILNEB	View info
INTERVERTEBRAL DISC DISEASE; IDD	View info
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED	View info
IRAK4 DEFICIENCY	View info
IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA	View info
ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS	View info
ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	View info
ISOLATED BRACHYCEPHALY	View info
ISOLATED ECTOPIA LENTIS	View info
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A	View info
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B	View info
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3	View info
ISOLATED OSTEOPOIKILOSIS	View info
ISOLATED OXYCEPHALY	View info
ISOLATED PIERRE ROBIN SYNDROME	View info
ISOLATED PLAGIOCEPHALY	View info

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