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
HEREDITARY ACROKERATOTIC POIKILODERMA, WEARY TYPE	View info
HEREDITARY BREAST AND OVARIAN CANCER SYNDROME	View info
HEREDITARY CENTRAL DIABETES INSIPIDUS	View info
HEREDITARY COPROPORPHYRIA	View info
HEREDITARY LATE-ONSET PARKINSON DISEASE	View info
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC	View info
HEREDITARY MOTOR AND SENSORY NEUROPATHY V	View info
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C	View info
HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF	View info
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME	View info
HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA	View info
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2	View info
HERMANSKY-PUDLAK SYNDROME 10; HPS10	View info
HERMANSKY-PUDLAK SYNDROME 1; HPS1	View info
HERMANSKY-PUDLAK SYNDROME 2; HPS2	View info
HERMANSKY-PUDLAK SYNDROME 4; HPS4	View info
HERMANSKY-PUDLAK SYNDROME 5; HPS5	View info
HERMANSKY-PUDLAK SYNDROME 6; HPS6	View info
HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1	View info
HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2	View info

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