Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Smith Magenis Syndrome

Also known as: chromosome 17, interstitial deletion 17p Chromosome 17p11.2 deletion syndrome SMCR Smith-Magenis chromosome region retinoic acid induced 1 gene (RAI1) SMS

NORD Rare Disease Report
Smith-Lemli-Opitz Syndrome

Also known as: 7-dehydrocholesterol reductase deficiency DHCR7 abnormality RSH syndrome SLOS SLO syndrome

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NORD Rare Disease Report
Sneddon Syndrome

Also known as: livedo reticularis racemosa and cerebrovascular accidents Sneddon's Syndrome

NORD Rare Disease Report
Sotos Syndrome

Also known as: cerebral gigantism

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NORD Rare Disease Report
Spastic Paraplegia 47

Also known as: SPG47 AP4B1-associated hereditary spastic paraplegia AP-4 deficiency syndrome

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NORD Rare Disease Report
Spastic Paraplegia 50

Also known as: SPG50 AP4M1-associated hereditary spastic paraplegia AP-4 deficiency syndrome

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NORD Rare Disease Report
Spastic Paraplegia 51

Also known as: SPG51 AP4E1-associated hereditary spastic paraplegia AP-4 deficiency syndrome

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NORD Rare Disease Report
Spastic Paraplegia 52

Also known as: SPG52 AP4S1-associated hereditary spastic paraplegia AP-4 deficiency syndrome

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NORD Rare Disease Report
Sphingosine Phosphate Lyase Insufficiency Syndrome

Also known as: primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency SPL insufficiency syndrome SPLIS familial steroid-resistant nephrotic syndrome nephrotic syndrome type 14

NORD Rare Disease Report
Spina Bifida

Also known as: Neural Tube Defect SB

NORD Rare Disease Report
Spinal Muscular Atrophy

Also known as: SMA SMN-related SMA classic SMA chromosome 5 SMA

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NORD Rare Disease Report
Spinal Muscular Atrophy with Respiratory Distress Type 1

Also known as: autosomal recessive distal spinal muscular atrophy 1s DHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuronopathy type VI distal spinal muscular atrophy type 1 DSMA1 HMN6 HMNVI severe infantile axonal neuropathy with respiratory failure SIANRF SMARD1 spinal muscular atrophy with respiratory distress type 1

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