Scroll Search Results for: S Also known as: acrocephalosyndactyly type III, acrocephaly, skull asymmetry, and mild syndactyly, ACS3, ACS type III, Chotzen syndrome, SCS Also known as: ACPS III, ACPS with Leg Hypoplasia, Acrocephalopolysyndactyly Type III, Sakati-Nyhan Syndrome Also known as: GM2 gangliosidosis, type 2, hexosaminidases A and B deficiency, beta-hexosaminidase-beta-subunit deficiency, total hexosaminidase deficiency , Sandhoff-Jatzkewitz-Pilz disease Also known as: immunoosseous dysplasia, Schimke type, SIOD Also known as: Alpha-N-Acetylgalactosaminidase deficiency, NAGA deficiency, neuroaxonal dystrophy, Schindler type Also known as: Schinzel-Giedion midface-retraction syndrome, SGS Also known as: Pallister ulnar-mammary syndrome, ulnar-mammary syndrome, UMS Also known as: Schnitzler's syndrome Also known as: chondrodystrophic myotonia, myotonic myopathy, dwarfism, chondrodystrophy, ocular & facial anomalies, Schwartz-Jampel-Aberfeld syndrome, SJA syndrome, SJS Also known as: Craniodigital Syndrome-Mental Retardation, Scott Type, Craniodigital Syndrome of Scott, Scott Syndrome Also known as: Bird-Headed Dwarfism, Seckel Type, Microcephalic Primordial Dwarfism, Nanocephalic Dwarfism, SCKL, Seckel Type Dwarfism, Seckel Type Primordial Dwarfism Also known as: autosomal dominant dopa-responsive dystonia (DRD, autosomal dominant segawa syndrome, DYT5 dystonia, GTP cyclohydrolase 1-deficient dopa-responsive dystonia, guanosine triphosphate cyclohydrolase I deficiency, progressive dystonia with marked diurnal fluctuation, Segawa disease Also known as: juvenile nephronophthisis with leber amaurosis, renal dysplasia and retinal aplasia, renal dysplasia-blindness, hereditary, renal-retinal dysplasia, renal-retinal syndrome, Loken-Senior syndrome, SLS Also known as: Human Ehrlichial Infection, Human Ehrlichial Infection, Human Ehrlichial Infection, Sennetsu Type, Sennetsu Type Also known as: Dopa-responsive dystonia due to sepiapterin reductase deficiency, SRD, SPR Deficiency Also known as: SETBP1-related disorder, SETBP1-related intellectual disability, SETBP1-related developmental delay Also known as: Bitemporal Forceps Marks Syndrome, Facial Ectodermal Dysplasia, FFDD Type II, Focal Facial Dermal Dysplasia Type II Also known as: SCN Also known as: bubble boy syndrome, SCID Also known as: ASXL2/Shashi-Pena syndrome Also known as: postpartum hypopituitarism, postpartum panhypopituitarism, postpartum panhypopituitary syndrome, postpartum pituitary necrosis, SS Also known as: SBS Also known as: SCAD deficiency, SCAD deficiency, adult-onset (localized), SCAD deficiency, congenital (generalized), SCADH deficiency, SCADD Also known as: SQTS, SQT Also known as: Aarskog-Ose-Pande syndrome, lipodystrophy-Rieger anomaly-diabetes syndrome, Rieger anomaly-partial lipodystrophy syndrome, PIK3R1-associated syndromic insulin resistance with lipoatrophy Also known as: SGS, Marfanoid-craniosynostosis syndrome, Shprintzen-Goldberg craniosynostosis syndrome Also known as: lipomatosis of pancreas, congenital, pancreatic insufficiency and bone marrow dysfunction, Shwachman-Bodian syndrome, Shwachman-Diamond-Oski syndrome, Shwachman syndrome Also known as: Salivary Gland Infection 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 Also known as: SCD Also known as: Herpesvirus Simiae, B Virus, H Simiae Encephalomyelitis, Monkey B Virus Also known as: Loeffler syndrome, Löffler 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 Also known as: Merten-Singleton syndrome Also known as: mermaid syndrome, sirenomelia sequence, sirenomelia syndrome, sirenomelus Also known as: phytosterolemia, beta-sitosterolemia, plant sterol storage disease Also known as: SLS, ichthyosis, spastic neurologic disorder, and oligophrenia, fatty aldehyde dehydrogenase deficiency, FALDH deficiency Also known as: SLC13A5 deficiency , citrate transporter disorder, early infantile epileptic encephalopathy 25 [MIM: 608305], Kohlschütter-Tönz syndrome (non-ROGDI) Also known as: SLC6A1-related myoclonic-atonic epilepsy (MAE) , SLC6A1 haploinsufficiency / loss of function, GAT1 deficiency, SLC6A1-related disorders Also known as: oat cell cancer, SCLC Also known as: DHCR7 abnormality, RSH Syndrome, SLOS, SLO 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 Also known as: livedo reticularis racemosa and cerebrovascular accidents, Sneddon's Syndrome Also known as: spermine synthase deficiency syndrome, SRS Also known as: STS Also known as: cerebral gigantism Also known as: SPG47, AP4B1-associated hereditary spastic paraplegia, AP-4 deficiency syndrome Also known as: SPG50, AP4M1 -associated hereditary spastic paraplegia, AP-4 deficiency syndrome Also known as: SPG51, AP4E1 -associated hereditary spastic paraplegia, AP-4 deficiency syndrome Also known as: SPG52, AP4S1 -associated hereditary spastic paraplegia, AP-4 deficiency syndrome Also known as: Neural Tube Defect, SB Also known as: SMA 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 Also known as: SCAN1 Also known as: SHFM, ectrodactyly Also known as: costovertebral dysplasia, Jarcho-Levin syndrome (obsolete), spondylocostal dysostosis, SCD, SCDO Also known as: SED tarda, X-linked spondyloepiphyseal dysplasia Also known as: SEDC, SED, Congenital Type, Spondyloepiphyseal Dysplasia, Congenital Type Also known as: Lavy-Moseley syndrome, STD, spondylothoracic dysostosis Also known as: spontaneous spinal cerebrospinal fluid leak Also known as: sIBM, IBM, inclusion body myositis Also known as: Congenital Elevation of the Scapula, Congenital High Scapula, Scapula Elevata Also known as: Ritter Disease, Scalded Skin Syndrome, Ritter von Ritterschein Disease, SSSS Also known as: Convulsions, Seizures Also known as: classic hemolytic uremic syndrome, diarrhea-associated (D+) hemolytic uremic syndrome, shigatoxin-associated hemolytic uremic syndrome, Stx HUS [STEC HUS], STEC HUS, typical HUS Also known as: epidermal necrolysis Also known as: hereditary arthro-ophthalmopathy Also known as: Moersch-Woltman syndrome, stiff-man syndrome, SMS, SPS Also known as: adenocarcinoma of the stomach, gastroesophageal junction cancer, gastric cancer Also known as: Dimitri disease, encephalofacial angiomatosis, encephalotrigeminal angiomatosis, leptomeningeal angiomatosis, Sturge-Kalischer-Weber syndrome, Sturge-Weber-Krabbe syndrome, Sturge-Weber phakomatosis, SWS Also known as: STWS, Schwartz-Jampel syndrome type 2, SJS2, Schwartz-Jampel syndrome neonatal, Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, Neonatal Schwartz-Jampel syndrome type 2 Also known as: STXBP1 encephalopathy, STXBP1 epileptic encephalopathy, STXBP1 -related disorders, developmental and epileptic encephalopathy 4 [MIM: 612164] Also known as: Dawson's Disease, Dawson's Encephalitis, Panencephalitis, Subacute Sclerosing, SSPE Also known as: 4-hydroxybutyric aciduria, SSADH deficiency Also known as: cot death, crib death, SIDS Also known as: SUDC, SUDIC Also known as: superficial siderosis of the central nervous system, subpial siderosis, cerebellar siderosis, superficial hemosiderosis, hemosiderosis of the central nervous system Also known as: arteriomesenteric duodenal obstruction, Cast syndrome, chronic duodenum ileus, mesenteric root syndrome, SMA, SMA syndrome, Wilkie’s syndrome Also known as: superior semicircular canal dehiscence syndrome, canal dehiscence syndrome, superior canal syndrome, third mobile window syndrome, Minor’s syndrome, SSCD Also known as: Aphthous Stomatitis, Recurrent, Aphthous Ulcer, Recurrent, Major Aphthous Ulcer, Major Canker Sore, Major Ulcerative Stomatitis, Periadenitis Mucosa Necrotica, Recurrent Type II, RAU, Recurrent Scarring Aphthae, von Mikulicz's Aphthae, Von Zahorsky's Disease Also known as: Acute Febrile Neutrophilic Dermatosis Also known as: 46, XY CGD, 46, XY complete gonadal dysgenesis, 46, XY pure gonadal dysgenesis, gonadal dysgenesis, XY female type Also known as: rheumatic chorea, St. Vitus dance Also known as: Lues, Acquired, Venereal Disease Also known as: hydromyelia, Morvan disease, syringohydromyelia Also known as: Clarkson's Syndrome, SCLS Also known as: carnitine transporter deficiency, carnitine uptake defect, carnitine uptake deficiency, CUD, CDSP Also known as: systemic sclerosis, progressive systemic sclerosis 
