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Monogenic disease
| Articles | Images |
|---|---|
| Saethre-Chotzen syndrome | |
| Sandhoff disease | |
| SC phocomelia syndrome | |
| SCA5 | |
| Schinzel phocomelia syndrome | |
| short rib-polydactyly syndrome type 1 | |
| short rib-polydactyly syndrome type 4 | |
| short rib-polydactyly syndromes | Image |
| short-rib polydactyly syndrome type 2 | |
| short-rib polydactyly syndrome type 3 | |
| Shwachman disease | |
| Shwachman-Diamond disease | |
| sickle cell anemia | Image |
| Silver-Russell syndrome | |
| Simpson-Golabi-Behmel syndrome | |
| Smith-Lemli-Opitz syndrome | Image |
| SPG7-associated hereditary spastic paraplegia | |
| spherocytosis | Image |
| split-hand/foot malformation with long bone deficiencies | |
| spondylocostal dysostosis | |
| sporadic visceral myopathy with inclusion bodies | |
| storage diseases | |
| STRA6-associated syndrome |