Rare Disease Index
9,491 diseasesShwachman-Diamond syndrome
syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities
MeSH: D000081003
sialidosis
inherited metabolic disorder
Sialidosis type 1
Lysosomal storage disease
ICD: E77.1
sialidosis type 2
human disease
sialuria
lysosomal storage disease characterized by increased sialic acid in the urine
ICD: E77.8MeSH: D029461
SIBIDS syndrome
Trichothiodystrophy-osteosclerosis syndrome
sick sinus syndrome
group of abnormal heart rhythms (arrhythmias) presumably caused by a malfunction of the sinus node, the heart's primary pacemaker
MeSH: D012804
sick sinus syndrome 1
human disease
sickle cell disease associated with an other hemoglobin anomaly
human disease
Sickle cell-beta thalassemia
medical condition
sickle cell-hemoglobin D disease syndrome
human disease
sickle cell-hemoglobin E disease syndrome
human disease
sickle-cell disease
group of genetic blood disorders
MeSH: D000755
sickle-cell/Hb-C disease with crisis
Human disease
ICD: D57.2
sideroblastic anaemia P
aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes)
MeSH: D000756
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
human disease
Siegler-Brewer-Carey syndrome
MeSH: C537335
silent pituitary adenoma
human disease
Silent sinus syndrome
Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls
Sillence syndrome
MeSH: C537338
Silver-Russell syndrome
growth disorder
MeSH: D056730
silver-Russell syndrome due to 11p15 microduplication
human disease
silver-Russell syndrome due to 7p11.2p13 microduplication
human disease
Silver-Russell syndrome due to a point mutation
human disease
silver-Russell syndrome due to an imprinting defect of 11p15
human disease
silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
human disease
silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
human disease
Silverman-Handmaker type dyssegmental dysplasia
osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has material basis in homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36
MeSH: C537998
simple cryoglobulinemia
Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C
simple vascular malformation
human disease