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
SHWACHMAN-DIAMOND SYNDROME; SDS	View info
SIALIDOSIS TYPE 1	View info
SIALURIA	View info
SICKLE CELL ANEMIA	View info
SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD	View info
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD	View info
SIFRIM-HITZ-WEISS SYNDROME; SIHIWES	View info
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1	View info
SINGLETON-MERTEN SYNDROME 2; SGMRT2	View info
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD	View info
SITOSTEROLEMIA	View info
SJOGREN-LARSSON SYNDROME; SLS	View info
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION	View info
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1	View info
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2	View info
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1	View info
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5	View info
SKRABAN-DEARDORFF SYNDROME; SKDEAS	View info
SMITH-KINGSMORE SYNDROME; SKS	View info
SMITH-LEMLI-OPITZ SYNDROME; SLOS	View info

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