S
- SAPHO syndrome
- SAS
- SATB2 syndrome
- SATB2-associated syndrome
- SCA29
- SCA8
- SCARF syndrome
- SCDS
- SCHAD Deficiency
- SCHAD deficiency
- SCID due to absent class II HLA antigens
- SCN2A related disorders
- SCN8A epilepsy
- SCOT deficiency
- SCT Syndrome
- SEOAN Due to NEFL Deficiency
- SERAC1 defect
- SETBP1 disorder
- SETBP1 related developmental delay
- SETBP1-related disorder
- SETBP1-related intellectual disability
- SETD2-related overgrowth syndrome
- SETD5 syndrome
- Saal Bulas syndrome
- Sabinas brittle hair syndrome
- Saccharopinuria
- Sackey Sakati Aur syndrome
- Sacral agenesis
- Sacral defect with anterior meningocele
- Sacral hemangiomas multiple congenital abnormalities
- Sacral plexopathy
- Sacrococcygeal Teratoma
- Saethre-Chotzen syndrome
- Saito Kuba Tsuruta syndrome
- Sakati syndrome
- Sakoda complex
- Salla disease
- Sallis Beighton syndrome
- Salt and pepper syndrome
- Samson Viljoen syndrome
- San Luis Valley Syndrome
- Sandhoff disease
- Sanfilippo Syndrome
- Santavuori Disease [Included]
- Santavuori-Haltia Disease [Included]
- Sarcoidosis
- Sarcoma botryoides
- Sarcosine dehydrogenase deficiency
- Sarcosinemia
- Sarcotubular myopathy
- Satoyoshi syndrome
- Saul Wilkes Stevenson syndrome
- Say Barber Miller syndrome
- Say Field Coldwell syndrome
- Say Meyer syndrome
- Say syndrome
- Scalp defects postaxial polydactyly
- Scalp ear nipple syndrome
- Scaphotrapeziotrapezoid arthrodesis
- Scapuloperoneal myopathy
- Scapuloperoneal spinal muscular atrophy
- Scapuloperoneal syndrome, neurogenic, Kaeser type
- Scarlatina
- Scarlet fever
- Schaap Taylor Baraitser syndrome
- Schaefer Stein Oshman syndrome
- Scheie Syndrome
- Schilbach-Rott Syndrome
- Schimke immuno-Osseous Dysplasia
- Schimke immunoosseous dysplasia
- Schimke syndrome
- Schindler Disease
- Schindler disease, type 1
- Schinzel Giedion syndrome
- Schinzel acrocallosal syndrome
- Schinzel syndrome 1
- Schinzel-Giedion midface retraction syndrome
- Schizencephaly
- Schizophrenia
- Schlegelberger Grote syndrome
- Schmitt Gillenwater Kelly syndrome
- Schneckenbecken dysplasia
- Schnitzler syndrome
- Schopf-Schulz-Passarge syndrome
- Schrander-Stumpel Theunissen Hulsmans syndrome
- Schroer Hammer Mauldin syndrome
- Schuurs-Hoeijmakers syndrome
- Schwannomatosis
- Schwartz Cohen-Addad Lambert syndrome
- Schwartz Jampel syndrome type 1
- Schwartz-Jampel syndrome
- Schwartz-Lelek syndrome
- Scleredema
- Scleroatonic muscular dystrophy
- Scleroderma
- Scleromyxedema
- Sclerosing mesenteritis
- Sclerosteosis
- Sclerosteosis 2
- Scoliosis with unilateral unsegmented bar
- Scott Bryant Graham syndrome
- Scott syndrome
- Scott-Taor syndrome
- SeSAME syndrome
- Sea-Blue histiocytosis
- Sea-blue histiocyte syndrome
- Searls ulcer
- Seaver Cassidy syndrome
- Sebastian syndrome
- Sebocystomatosis
- Seborrhea-like dermatitis with psoriasiform elements
- Seckel like syndrome Majoor-Krakauer type
- Seckel syndrome
- Seckel syndrome 2
- Seckel syndrome 4
- Seckel syndrome 5
- Secondary biliary cirrhosis
- Secretory breast carcinoma
- Sedlackova syndrome
- Seemanova Lesny syndrome
- Segawa syndrome, autosomal recessive
- Seghers syndrome
- Segmentation syndrome 1
- Selig Benacerraf Greene syndrome
- Semmekrot Haraldsson Weemaes syndrome
- Sengers Syndrome
- Senior-Loken syndrome
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Sensory neuropathy type 1
- Senter syndrome
- Seow Najjar syndrome
- Sepiapterin reductase deficiency
- Septo-optic dysplasia
- Septo-optic dysplasia sequence
- Septooptic Dysplasia
- Sequeiros Sack syndrome
- Seres-Santamaria Arimany Muniz syndrome
- Serpentine fibula polycystic kidney syndrome
- Serpiginous choroiditis
- Sertoli-leydig cell tumors
- Severe Early-Onset Axonal Neuropathy Due to Light Neurofilament Subunit Deficiency
- Severe Early-Onset Axonal Neuropathy Due to NEFL Deficiency
- Severe Intellectual Disability-progressive Spastic Diplegia syndrome
- Severe achondroplasia with developmental delay and acanthosis nigricans
- Severe autosomal recessive muscular dystrophy of childhood - North African type
- Severe combined immunodeficiency
- Severe combined immunodeficiency due to ADA deficiency
- Severe combined immunodeficiency with sensitivity to ionizing radiation
- Severe combined immunodeficiency, atypical
- Severe combined immunodeficiency, x-linked
- Severe congenital neutropenia
- Severe congenital neutropenia 4
- Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
- Severe mental retardation and absent nails of hallux and pollex
- Severe myoclonic epilepsy in infancy
- Sezary syndrome
