|
Disease
|
|
Also Known as |
|
|
S-Adenosylhomocysteine
Hydrolase Deficiency |
 |
SAHH
Deficiency |
|
|
Sarcosinemia |
|
Hypersarcosinemia |
|
|
Sato Syndrome |
|
Mental and Growth Retardation with Amblyopia |
|
Schindler Disease
|
|
Neuraxonal Dystrophy, Schindler Type |
|
Sea
Blue Histiocytosis
|
|
Sea-Blue Histiocyte
Disease |
|
Seitelberger Disease
|
|
Infantile Neuroaxonal Dystrophy |
|
Septo-Optic Dysplasia
|
|
SOD |
|
|
Serine and Glycine Deficiency |
|
|
|
|
Serine Deficiency with Ichthyosis and Polyneuropathy |
|
Disorders of Keratinization |
|
Severe Combined Immunodeficiency
|
|
SCID |
|
Short Chain 3 Hydroxyacyl CoA Dehydrogenase Deficiency
|
|
SCHADD |
|
Short Chain acyl CoA Dehydrogenase Deficiency
|
|
SCADD |
|
Shwachman Syndrome
|
|
Shwachman-Diamond
Syndrome |
|
Sialidosis
|
|
Mucolipidosis I |
|
Sialuria
|
|
Salla Disease/
Sialic Acid Storage Disease
|
|
Sickle Cell Disease
|
|
|
|
Simpson-Golabi-Behmel Syndrome
|
|
Simpson Dysmorphia Syndrome |
|
|
Sitosterolemia |
|
Phytosterolemia |
|
Sjögren-Larsson Syndrome
|
|
Ichthyosis, Spastic
Neurologic Disorder, Mental Retardation |
|
Smith-Lemli-Opitz Syndrome
|
|
SLOS |
|
Sodium/Iodide Symporter Gene Defects
|
|
|
|
Sotos Syndrome
|
|
Cerebral Gigantism
|
|
Spherocytosis - Hereditary
|
|
Ankyrin Deficiency |
|
Spinal Muscular Atrophy
|
|
SMA |
|
Spondyloepiphyseal Dysplasia
|
|
SED |
|
Sporadic Toxic Thyroid Hyperplasia
|
|
Thyrotropin Receptor |
|
Steroid Sulphatase Deficiency
|
|
X-Linked Ichthyosis |
|
Stevens Johnson Syndrome
|
|
Johnson-Stevens Disease
|
|
Stickler Syndrome
|
|
Wagner's Syndrome |
|
Succinyl-CoA Oxoacid Transferase Deficiency
|
|
SCOT |
|
Sucrase-Isomaltase Deficiency
|
|
CSID |
|
|
Sulphite Oxidase Deficiency |
|
Sulphocyseinuria |
