Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Sialadenitis

Also known as: Salivary Gland Infection

NORD Rare Disease Report
Sialidosis

Also known as: alpha-neuraminidase deficiency cherry red spot and myoclonus syndrome glycoprotein neuraminidase, deficiency of lipomucopolysaccharidosis type I ML I mucolopidosis type I neuraminidase deficiency sialidase deficiency

NORD Rare Disease Report
Simian B Virus Infection

Also known as: Herpesvirus Simiae, B Virus H Simiae Encephalomyelitis Monkey B Virus

NORD Rare Disease Report
Simpson-Golabi-Behmel Syndrome

Also known as: Simpson dysmorphia syndrome SGB syndrome SGBS SGBS1 bulldog syndrome dysplasia gigantism syndrome, X-Linked SDYS DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome

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NORD Rare Disease Report
Sirenomelia

Also known as: mermaid syndrome sirenomelia sequence sirenomelia syndrome sirenomelus

NORD Rare Disease Report
Sitosterolemia

Also known as: phytosterolemia beta-sitosterolemia plant sterol storage disease

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NORD Rare Disease Report
Sjögren-Larsson Syndrome

Also known as: SLS ichthyosis, spastic neurologic disorder, and oligophrenia fatty aldehyde dehydrogenase deficiency FALDH deficiency

NORD Rare Disease Report
SLC13A5 Citrate Transporter Disorder

Also known as: SLC13A5 epileptic encephalopathy SLC13A5 deficiency Kohlschütter-Tönz syndrome (non-ROGDI) developmental and epileptic encephalopathy 25, with amelogenesis imperfecta early infantile epileptic encephalopathy 25, with amelogenesis imperfecta (EIEE25)

* También disponible en español

NORD Rare Disease Report
SLC6A1 Epileptic Encephalopathy

Also known as: SLC6A1-related myoclonic-atonic epilepsy (MAE) SLC6A1 haploinsufficiency / loss of function GAT1 deficiency SLC6A1-related disorders

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