S

OBSOLETE: Sakati-Nyhan syndromeRetired termView → OBSOLETE: Say-Field-Coldwell syndromeRetired termView → OBSOLETE: Sea-blue histiocytosisImmuneRetired termView → OBSOLETE: Secondary acute transverse myelitisRetired termView → OBSOLETE: Secondary ciliary dyskinesiaRespiratoryRetired termView → OBSOLETE: Secondary entropionRetired termView → OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomalyRetired termView → OBSOLETE: Secondary glomerular diseaseRenalRetired termView → OBSOLETE: Secretory apparatus of the lacrimal system anomalyRetired termView → OBSOLETE: Sequence or associationRetired termView → OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiencyRetired termView → OBSOLETE: Short stature-heart defect-craniofacial anomalies syndromeRetired termView → OBSOLETE: Short stature-microcephaly-heart defect syndromeRetired termView → OBSOLETE: Short stature-prognathism-short femoral necks syndromeRetired termView → OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndromeRetired termView → OBSOLETE: Shy-Drager syndromeRetired termView → OBSOLETE: Sickle cell disease associated with another hemoglobin anomalyBloodRetired termView → OBSOLETE: Single ventricular septal defectRetired termView → OBSOLETE: Sino-auricular heart blockRetired termView → OBSOLETE: Sinus node disease-myopia syndromeRetired termView → OBSOLETE: Small poxRetired termView → OBSOLETE: Solitary median maxillary central incisor syndromeRetired termView → OBSOLETE: Sparse hair-short stature-skin anomalies syndromeRetired termView → OBSOLETE: Spastic diplegia, infantile typeRetired termView → OBSOLETE: Spherocytic elliptocytosisRetired termView → OBSOLETE: Spinocerebellar ataxia with oculomotor anomalyNeurologicalRetired termView → OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomalyNeurologicalRetired termView → OBSOLETE: Split footRetired termView → OBSOLETE: Split foot, bilateralRetired termView → OBSOLETE: Split foot, unilateralRetired termView → OBSOLETE: Split handRetired termView → OBSOLETE: Split hand or/and split foot malformationRetired termView → OBSOLETE: Split hand, bilateralRetired termView → OBSOLETE: Split hand, unilateralRetired termView → OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndromeConnective TissueRetired termView → OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndromeConnective TissueRetired termView → OBSOLETE: Spondyloepimetaphyseal dysplasiaConnective TissueRetired termView → OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxityConnective TissueRetired termView → OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short statureConnective TissueRetired termView → OBSOLETE: Sporadic achalasiaRetired termView → OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathyRenalRetired termView → OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferationRenalRetired termView → OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosisRenalRetired termView → OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosisRenalRetired termView → OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changesRenalRetired termView → OBSOLETE: Sporadic Leigh syndromeMitochondrialRetired termView → OBSOLETE: Sporadic pheochromocytomaEndocrineRetired termView → OBSOLETE: Sporadic secreting paragangliomaEndocrineRetired termView → OBSOLETE: Squamous cell carcinoma of salivary glandsOncologyRetired termView → OBSOLETE: Subcutaneous myiasisRetired termView → OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomalyRetired termView → OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformationRetired termView → OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular diseaseRetired termView → OBSOLETE: Sucking/swallowing disorder associated with an identified syndromeRetired termView → OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomaliesRetired termView → OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomaliesNeurologicalRetired termView → OBSOLETE: Sucking/swallowing disorder associated with neurologic anomaliesRetired termView → OBSOLETE: Sucking/swallowing disorder associated with posterior fossa anomaliesRetired termView → OBSOLETE: Sucking/swallowing disorder associated with suprabulbar anomaliesRetired termView → OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin syndromeRetired termView → OBSOLETE: Superior celosomiaRetired termView → OBSOLETE: Suprabasal epidermolysis bullosa simplexDermatologicalRetired termView → OBSOLETE: Symbrachydactyly of hand and foot, bilateralRetired termView → OBSOLETE: Symbrachydactyly of hand and foot, unilateralRetired termView → OBSOLETE: Symptomatic form of fragile X syndrome in female carriersRetired termView → OBSOLETE: Syndrome associated with a congenital cardiopathyRetired termView → OBSOLETE: Syndrome associated with Pierre Robin syndromeRetired termView → OBSOLETE: Syndromes with synostoses of limbsRetired termView → OBSOLETE: Syndromic chorioretinal dystrophyOphthalmologicalRetired termView → OBSOLETE: Syndromic developmental defect of the eyeRetired termView → OBSOLETE: Syndromic frontonasal dysplasiaRetired termView → OBSOLETE: Syndromic ichthyosis associated with ocular featuresDermatologicalRetired termView → OBSOLETE: Syndromic inherited retinal disorderOphthalmologicalRetired termView → OBSOLETE: Syndromic lymphedemaRetired termView → OBSOLETE: Syndromic macular dystrophyOphthalmologicalRetired termView → OBSOLETE: Syndromic malformation of the optic discRetired termView → OBSOLETE: Syndromic myopiaRetired termView → OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disabilityRetired termView → OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disabilityRetired termView → OBSOLETE: Syndromic rod-cone dystrophyRetired termView → OBSOLETE: Syndromic sucking/swallowing disorder with unidentifyed syndromeRetired termView → OBSOLETE: Syndromic vitreoretinopathyOphthalmologicalRetired termView → OBSOLETE: Systemic disease with cataractRetired termView → OBSOLETE: Systemic non-Langerhans cell histiocytosisImmuneRetired termView → S-adenosylhomocysteine hydrolase deficiency1 recruitingView → SaccharopinuriaView → Saccular limited dorsal myeloschisisView → Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndromeView → Sacral hemangiomas-multiple congenital abnormalities syndromeView → Sacrococcygeal dysgenesis associationView → Sacrococcygeal teratomaView → Saethre-Chotzen syndrome5 recruitingView → Saldino-Mainzer syndromeView → Salivary gland type cancer of the breast7 recruitingView → Salla disease1 recruitingView → Salt-and-pepper syndromeView → SAMD9L-associated autoinflammatory syndromeImmuneView → Sandhoff Disease4 recruitingMetabolicView → Sandhoff disease, adult formView → Sandhoff disease, infantile formView → Sandhoff disease, juvenile formView → Sandifer syndromeView → Sanfilippo Syndrome9 recruitingMetabolicView → Sanfilippo syndrome type A6 recruitingView → Sanfilippo syndrome type B1 recruitingView → Sanfilippo syndrome type C1 recruitingView → Sanfilippo syndrome type DView → Sanjad-Sakati syndromeView → SAPHO syndrome3 recruitingView → SarcocystosisView → Sarcoidosis49 recruitingView → SarcosinemiaView → SATB2-associated syndromeView → SATB2-associated syndrome due to a chromosomal rearrangementView → SATB2-associated syndrome due to a pathogenic variantView → Satoyoshi syndromeView → Say-Barber-Miller syndromeView → SBDS-related severe neonatal spondylometaphyseal dysplasiaView → Scalp defects-postaxial polydactyly syndromeView → SCALP syndrome1 recruitingView → Scalp-ear-nipple syndromeView → Scapuloperoneal spinal muscular atrophyNeuromuscularView → SCARF syndromeView → Scarlet feverView → ScedosporiosisView → SCGN-related severe early-onset hereditary ulcerative colitisView → Schaaf-Yang syndromeView → Schilbach-Rott syndromeView → Schilder disease14 recruitingView → Schimke immuno-osseous dysplasia1 recruitingView → Schinzel-Giedion syndromeView → Schisis associationView → Schistosomiasis7 recruitingView → Schizencephaly1 recruitingView → Schneckenbecken dysplasiaView → Schnitzler syndrome2 recruitingView → Schnyder corneal dystrophyOphthalmologicalView → Schöpf-Schulz-Passarge syndromeView → Schuurs-Hoeijmakers syndromeView → Schwartz-Jampel syndromeView → Scimitar syndrome1 recruitingView → ScleredemaView → ScleromyxedemaView → Scleromyxedema without monoclonal gammopathyView → Sclerosing perineurioma1 recruitingView → Sclerosteosis2 recruitingView → Scorpion envenomationView → Scott syndromeView → Scrub typhus1 recruitingView → Sebaceous gland anomalyGroupView → Sebastian syndromeView → SebocystomatosisView → Seborrhea-like dermatitis with psoriasiform elementsView → Seckel syndrome1 recruitingView → Second branchial cleft anomalyView → Secondary avascular necrosisGroupView → Secondary central precocious puberty in femaleView → Secondary central precocious puberty in maleView → Secondary early-onset glaucomaGroupView → Secondary early-onset glaucoma of genetic originGroupView → Secondary ectropionGroupView → Secondary erythromelalgiaView → Secondary hemophagocytic lymphohistiocytosisImmuneGroupView → Secondary hypereosinophilic syndromeView → Secondary hypoparathyroidism due to impaired parathormon secretionEndocrineView → Secondary interstitial lung disease in childhood and adulthoodGroupView → Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue diseaseConnective TissueGroupView → Secondary interstitial lung disease in childhood and adulthood associated with a metabolic diseaseGroupView → Secondary interstitial lung disease in childhood and adulthood associated with a systemic diseaseGroupView → Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitisImmuneGroupView → Secondary interstitial lung disease specific to adulthood associated with a systemic diseaseGroupView → Secondary interstitial lung disease specific to childhood associated with a connective tissue diseaseConnective TissueGroupView → Secondary interstitial lung disease specific to childhood associated with a granulomatous diseaseGroupView → Secondary interstitial lung disease specific to childhood associated with a metabolic diseaseGroupView → Secondary interstitial lung disease specific to childhood associated with a systemic diseaseGroupView → Secondary interstitial lung disease specific to childhood associated with a systemic vasculitisImmuneGroupView → Secondary intestinal lymphangiectasiaView → Secondary neonatal autoimmune diseaseImmuneGroupView → Secondary non-traumatic avascular necrosisView → Secondary polyarteritis nodosaView → Secondary polycythemiaBloodGroupView → Secondary pulmonary alveolar proteinosisRespiratoryView → Secondary pulmonary hemosiderosisRespiratoryView → Secondary sclerosing cholangitis1 recruitingView → Secondary short bowel syndromeView → Secondary syringomyeliaView → Secondary vasculitisImmuneGroupView → Segmental arterial mediolysisView → Segmental odontomaxillary dysplasiaView → Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeView → Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaView → Segmental spinal dysgenesisView → Segmental venous malformationView → Seizures-intellectual disability due to hydroxylysinuria syndromeNeurologicalView → Seizures-scoliosis-macrocephaly syndromeNeurologicalView → Selective IgM deficiencyView → Selective intrauterine growth restriction1 recruitingView → Self-healing papular mucinosisView → Self-improving collodion babyView → Self-improving dystrophic epidermolysis bullosaDermatologicalView → Self-limited childhood occipital epilepsyNeurologicalView → Self-limited epilepsy with autonomic seizuresNeurologicalView → Self-limited epilepsy with centrotemporal spikes1 recruitingNeurologicalView → Self-limited infantile epilepsyNeurologicalView → Self-limited neonatal epilepsyNeurologicalView → Self-limited neonatal-infantile epilepsyNeurologicalView → Semantic dementia86 recruitingView → Semicircular canal dehiscence syndromeView → Semilobar holoprosencephalyView → Senior-Boichis syndromeView → Senior-Loken syndromeView → Sensorineural deafness with dilated cardiomyopathy1 recruitingNeuromuscularView → Sensorineural hearing loss-early graying-essential tremor syndromeView → Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndromeView → Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeOphthalmologicalView → Septate vaginaView → Septo-optic dysplasia spectrum1 recruitingView → Septopreoptic holoprosencephalyView → Serine biosynthesis pathway deficiency, infantile/juvenile formView → SERKAL syndromeView → Seromucinous cystadenoma of childhoodView → Seronegative autoimmune hepatitisImmuneView → Serotonin syndrome6 recruitingView → Serotonin-producing neuroendocrine tumor of pancreasEndocrineView → Serous carcinoma of the corpus uteri3 recruitingOncologyView → Serous cystadenocarcinoma of pancreas1 recruitingOncologyView → Serous cystadenoma of childhoodView → Serpentine fibula-polycystic kidneys syndromeRenalView → Serpiginous choroiditisView → SerpinopathyGroupView → Serpinopathy with loss of serpin functionGroupView → Serpinopathy with toxic serpin polymerizationGroupView → Serrated polyposis syndrome1 recruitingView → SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndromeView → Severe achondroplasia-developmental delay-acanthosis nigricans syndromeConnective TissueView → Severe acute respiratory syndrome40 recruitingView → Severe autosomal recessive macrothrombocytopeniaBloodView → Severe Canavan diseaseView → Severe Combined Immunodeficiency12 recruitingImmuneView → Severe combined immunodeficiency due to complete RAG1/2 deficiencyImmuneView → Severe combined immunodeficiency due to CORO1A deficiencyImmuneView → Severe combined immunodeficiency due to CTPS1 deficiencyImmuneView → Severe combined immunodeficiency due to DCLRE1C deficiency2 recruitingImmuneView → Severe combined immunodeficiency due to DNA-PKcs deficiencyImmuneView → Severe combined immunodeficiency due to FOXN1 deficiencyImmuneView → Severe combined immunodeficiency due to LAT deficiencyImmuneView → Severe congenital hypochromic anemia with ringed sideroblastsBloodView → Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndromeBloodView → Severe congenital nemaline myopathy1 recruitingNeuromuscularView → Severe congenital neutropenia due to G6PC3 deficiencyBloodView → Severe congenital neutropenia due to JAGN1 deficiencyBloodView → Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiencyBloodView → Severe dermatitis-multiple allergies-metabolic wasting syndromeView → Severe dilated cardiomyopathy due to lamin A/C mutationNeuromuscularView → Severe disseminated cytomegalovirus infection in immunocompetent patientsView → Severe early-childhood-onset retinal dystrophy1 recruitingOphthalmologicalView → Severe early-onset axonal neuropathy due to MFN2 deficiencyView → Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyView → Severe early-onset pulmonary alveolar proteinosis due to MARS deficiencyRespiratoryView → Severe generalized junctional epidermolysis bullosaDermatologicalView → Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeView → Severe hemophilia A20 recruitingBloodView → Severe hemophilia B6 recruitingBloodView → Severe hereditary thrombophilia due to congenital protein C deficiencyView → Severe hereditary thrombophilia due to congenital protein S deficiencyView → Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndromeView → Severe immune-mediated enteropathyGroupView → Severe intellectual disability and progressive spastic paraplegiaView → Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeNeurologicalView → Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasiaNeurologicalView → Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeView → Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeView → Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeView → Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndromeView → Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiencyView → Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiencyView → Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndromeView → Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeView → Severe myopia-generalized joint laxity-short stature syndromeView → Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionNeurologicalView → Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiencyView → Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractView → Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome1 recruitingRenalView → Severe oculo-renal-cerebellar syndromeNeurologicalView → Severe phosphoribosylpyrophosphate synthetase superactivityView → Severe primary trimethylaminuria1 recruitingView → Severe X-linked intellectual disability, Gustavson typeView → Severe X-linked mitochondrial encephalomyopathyNeuromuscularView → Sex chromosome difference of sex developmentGroupView → Sex cord-stromal tumor of testis2 recruitingView → Sex-chromosome anomaly syndromeGroupView → Sex-chromosome number anomaly syndromeGroupView → Sex-chromosome structural anomaly syndromeGroupView → Sézary syndrome9 recruitingView → Shashi-Pena syndrome1 recruitingView → Sheehan syndromeView → Sheldon-Hall syndromeView → Shiga toxin-associated hemolytic uremic syndrome2 recruitingView → Shigellosis5 recruitingView → Shone complexView → Short chain acyl-CoA dehydrogenase deficiencyView → Short fifth metacarpals-insulin resistance syndromeView → Short rib-polydactyly syndrome type 5View → Short rib-polydactyly syndrome, Beemer-Langer typeView → Short rib-polydactyly syndrome, Majewski typeView → Short rib-polydactyly syndrome, Saldino-Noonan typeView → Short rib-polydactyly syndrome, Verma-Naumoff typeView → Short stature due to GHSR deficiencyView → Short stature due to growth hormone qualitative anomalyView → Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemiaView → Short stature due to partial GHR deficiencyView → Short stature due to primary acid-labile subunit deficiencyView → Short stature-advanced bone age-early-onset osteoarthritis syndromeView → Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndromeView → Short stature-brachydactyly-obesity-global developmental delay syndromeView → Short stature-craniofacial anomalies-genital hypoplasia syndromeView → Short stature-deafness-neutrophil dysfunction-dysmorphism syndromeView → Short stature-delayed bone age due to thyroid hormone metabolism deficiencyEndocrineView → Short stature-intellectual disability-eye anomalies-cleft lip/palate syndromeView → Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndromeView → Short stature-optic atrophy-Pelger-Huët anomaly syndromeView → Short stature-pituitary and cerebellar defects-small sella turcica syndromeNeurologicalView → Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndromeConnective TissueView → Short stature-valvular heart disease-characteristic facies syndromeView → Short stature-webbed neck-heart disease syndromeView → Short stature-wormian bones-dextrocardia syndromeView → Short stature, Brussels typeView → SHORT syndrome59 recruitingView → Short tarsus-absence of lower eyelashes syndromeView → Short ulna-dysmorphism-hypotonia-intellectual disability syndromeView → Short-limb skeletal dysplasia with severe combined immunodeficiencyImmuneView → Shoulder and thorax deformity-congenital heart disease syndromeView → SHOX-related short statureView → Shprintzen-Goldberg syndromeView → Shwachman-Diamond Syndrome4 recruitingBloodView → Sialidosis type 12 recruitingView → Sialidosis type 21 recruitingView → Sialuria1 recruitingView → SIBIDS syndromeView → Sickle Cell DiseaseBloodView → Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variantBloodView → Sickle cell S-C diseaseBloodView → Sickle cell S-D Punjab diseaseBloodView → Sickle cell S-E diseaseBloodView → Sickle cell S-Lepore diseaseBloodView → Sickle cell S-O Arab diseaseBloodView → Sickle cell S-other specified hemoglobin variantBloodView → Sickle cell-beta plus-thalassemia11 recruitingBloodView → Sickle cell-beta zero-thalassemia1 recruitingBloodView → Sickle cell-beta-thalassemia disease16 recruitingBloodView → Sideroblastic anemiaBloodGroupView → Siegler-Brewer-Carey syndromeView → Silent pituitary adenoma1 recruitingEndocrineView → Silent sinus syndromeView → Sillence syndromeView → Silver-Russell syndrome2 recruitingView → Silver-Russell syndrome due to 11p15 microduplication1 recruitingView → Silver-Russell syndrome due to 7p11.2p13 microduplicationView → Silver-Russell syndrome due to a point mutation1 recruitingView → Silver-Russell syndrome due to an imprinting defect of 11p15View → Silver-Russell syndrome due to maternal uniparental disomy of chromosome 111 recruitingView → Silver-Russell syndrome due to maternal uniparental disomy of chromosome 71 recruitingView → SIM1-related Prader-Willi-like syndromeView → Simple cryoglobulinemiaView → Simple vascular malformationGroupView → Simpson-Golabi-Behmel syndrome10 recruitingView → Simpson-Golabi-Behmel syndrome type 2View → SIN3-related intellectual disability syndrome due to a point mutationView → Sinding-Larsen-Johansson diseaseView → Single isolated optic neuritisView → Single-organ polyarteritis nodosaView → Single-system multifocal Langerhans cell histiocytosis1 recruitingImmuneView → Singleton-Merten dysplasiaView → Sinoatrial node dysfunction and deafnessView → Sinus pericraniiView → SirenomeliaView → SitosterolemiaView → Situs ambiguus5 recruitingView → Situs inversus totalisView → SIX2-related frontonasal dysplasiaView → Sjögren-Larsson syndrome1 recruitingView → Skeletal dysplasia-epilepsy-short stature syndromeNeurologicalView → Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeImmuneView → Skeletal Ewing sarcoma1 recruitingOncologyView → Skeletal muscle diseaseGroupView → Skin fragility-woolly hair-palmoplantar keratoderma syndromeDermatologicalView → Skin vascular diseaseGroupView → SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndromeView → SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndromeView → SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndromeView → SLC35A1-CDGView → SLC35A2-CDG1 recruitingView → SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeConnective TissueView → SLC39A8-CDG1 recruitingView → SLC40A1-related hemochromatosisView → Sleep-related hypermotor epilepsyNeurologicalView → Slow-Channel Congenital Myasthenic SyndromeNeuromuscularView → Slow-flow malformation, lymphatic typeGroupView → Slow-flow malformation, venous typeGroupView → Small bowel atresia1 recruitingView → Small cell carcinoma of the bladder37 recruitingOncologyView → Small cell carcinoma of the ovary71 recruitingOncologyView → Small cell lung cancer1513 recruitingView → Small omphaloceleView → SMARCA2-related blepharophimosis-intellectual disability syndromeView → SMARCA4-deficient sarcoma of thoraxOncologyView → Smith-Fineman-Myers syndromeView → Smith-Lemli-Opitz syndrome1 recruitingView → Smith-Magenis Syndrome2 recruitingNeurologicalView → Smith-McCort dysplasiaView → Smoldering systemic mastocytosis1 recruitingView → SMPX-related distal myopathyNeuromuscularView → Snakebite envenomation5 recruitingView → Sneddon syndrome1 recruitingView → Snowflake vitreoretinal degenerationOphthalmologicalView → Sodium-dependent multivitamin transporter deficiencyView → Soft and hard cleft palateView → Solar urticaria1 recruitingView → Solid tumor associated with an acquired peripheral neuropathyGroupView → Solitary bone cyst2 recruitingView → Solitary fibrous tumor14 recruitingView → Solitary necrotic nodule of the liverView → Solitary rectal ulcer syndromeView → SomatomammotropinomaView → Somatostatinoma2 recruitingView → Sorsby fundus dystrophy1 recruitingView → Sotos syndrome1 recruitingView → Southeast Asian ovalocytosisView → Spasmus nutansView → Spastic ataxia with congenital miosis1 recruitingNeurologicalView → Spastic ataxia-corneal dystrophy syndrome1 recruitingNeurologicalView → Spastic ataxia-dysarthria due to glutaminase deficiencyNeurologicalView → Spastic paraparesis-cataracts-speech delay syndromeView → Spastic paraparesis-deafness syndromeView → Spastic paraplegia type 24 recruitingView → Spastic paraplegia type 71 recruitingView → Spastic paraplegia-epilepsy-intellectual disability syndrome1 recruitingNeurologicalView → Spastic paraplegia-facial-cutaneous lesions syndromeView → Spastic paraplegia-glaucoma-intellectual disability syndromeView → Spastic paraplegia-intellectual disability-nystagmus-obesity syndromeView → Spastic paraplegia-nephritis-deafness syndromeView → Spastic paraplegia-neuropathy-poikiloderma syndromeView → Spastic paraplegia-optic atrophy-neuropathy syndrome1 recruitingView → Spastic paraplegia-Paget disease of bone syndromeView → Spastic paraplegia-precocious puberty syndromeView → Spastic paraplegia-severe developmental delay-epilepsy syndromeNeurologicalView → Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndromeOphthalmologicalView → Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeView → SPECC1L-related hypertelorism syndromeView → Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cellsGroupView → Spectrin-associated autosomal recessive cerebellar ataxiaNeurologicalView → Spermatocytic seminomaView → Spheroid body myopathyNeuromuscularView → SphingolipidosisGroupView → Sphingolipidosis with epilepsyNeurologicalGroupView → Spigelian hernia-cryptorchidism syndromeView → Spina bifida and other spinal dysraphismsGroupView → Spina bifida-hypospadias syndromeView → Spinal arteriovenous metameric syndromeView → Spinal atrophy-ophthalmoplegia-pyramidal syndromeOphthalmologicalView → Spinal cord arteriovenous malformationView → Spinal dermal sinusView → Spinal epidural arteriovenous malformation1 recruitingView → Spinal Muscular Atrophy80 recruitingNeuromuscularView → Spinal muscular atrophy with respiratory distress type 11 recruitingNeuromuscularView → Spinal muscular atrophy with respiratory distress type 21 recruitingNeuromuscularView → Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndromeNeuromuscularView → Spinal muscular atrophy-progressive myoclonic epilepsy syndromeNeurologicalView → Spinal pial arteriovenous fistulaView → Spindle cell hemangioma1 recruitingView → Spinocerebellar Ataxia42 recruitingNeurologicalView → Spinocerebellar ataxia type 15 recruitingNeurologicalView → Spinocerebellar ataxia type 102 recruitingNeurologicalView → Spinocerebellar ataxia type 111 recruitingNeurologicalView → Spinocerebellar ataxia type 121 recruitingNeurologicalView → Spinocerebellar ataxia type 131 recruitingNeurologicalView → Spinocerebellar ataxia type 141 recruitingNeurologicalView → Spinocerebellar ataxia type 15/161 recruitingNeurologicalView → Spinocerebellar ataxia type 161 recruitingNeurologicalView → Spinocerebellar ataxia type 171 recruitingNeurologicalView → Spinocerebellar ataxia type 181 recruitingNeurologicalView → Spinocerebellar ataxia type 19/221 recruitingNeurologicalView → Spinocerebellar ataxia type 24 recruitingNeurologicalView → Spinocerebellar ataxia type 201 recruitingNeurologicalView → Spinocerebellar ataxia type 211 recruitingNeurologicalView → Spinocerebellar ataxia type 221 recruitingNeurologicalView → Spinocerebellar ataxia type 231 recruitingNeurologicalView → Spinocerebellar ataxia type 251 recruitingNeurologicalView → Spinocerebellar ataxia type 261 recruitingNeurologicalView → Spinocerebellar ataxia type 27ANeurologicalView → Spinocerebellar ataxia type 27B2 recruitingNeurologicalView → Spinocerebellar ataxia type 281 recruitingNeurologicalView → Spinocerebellar ataxia type 291 recruitingNeurologicalView → Spinocerebellar ataxia type 34 recruitingNeurologicalView → Spinocerebellar ataxia type 301 recruitingNeurologicalView → Spinocerebellar ataxia type 311 recruitingNeurologicalView → Spinocerebellar ataxia type 321 recruitingNeurologicalView → Spinocerebellar ataxia type 341 recruitingNeurologicalView → Spinocerebellar ataxia type 351 recruitingNeurologicalView → Spinocerebellar ataxia type 361 recruitingNeurologicalView → Spinocerebellar ataxia type 371 recruitingNeurologicalView → Spinocerebellar ataxia type 38NeurologicalView → Spinocerebellar ataxia type 41 recruitingNeurologicalView → Spinocerebellar ataxia type 40NeurologicalView → Spinocerebellar ataxia type 41NeurologicalView → Spinocerebellar ataxia type 42NeurologicalView → Spinocerebellar ataxia type 43NeurologicalView → Spinocerebellar ataxia type 44NeurologicalView → Spinocerebellar ataxia type 45NeurologicalView → Spinocerebellar ataxia type 461 recruitingNeurologicalView → Spinocerebellar ataxia type 48NeurologicalView → Spinocerebellar ataxia type 49NeurologicalView → Spinocerebellar ataxia type 51 recruitingNeurologicalView → Spinocerebellar ataxia type 65 recruitingNeurologicalView → Spinocerebellar ataxia type 73 recruitingNeurologicalView → Spinocerebellar ataxia type 82 recruitingNeurologicalView → Spinocerebellar ataxia with axonal neuropathy type 11 recruitingNeurologicalView → Spinocerebellar ataxia with axonal neuropathy type 21 recruitingNeurologicalView → Spinocerebellar ataxia with epilepsy1 recruitingNeurologicalView → Spinocerebellar ataxia-dysmorphism syndrome5 recruitingNeurologicalView → Spinocerebellar degeneration-corneal dystrophy syndrome1 recruitingNeurologicalView → Spirillary rat-bite feverView → Splenic arteriovenous malformation1 recruitingView → Splenic diffuse red pulp small B-cell lymphomaBloodView → Splenic marginal zone lymphoma9 recruitingBloodView → Splenic venous malformationView → Splenogonadal fusion-limb defects-micrognathia syndromeView → Split cord malformation type IView → Split cord malformation type IIView → Split cord malformation, composite typeView → Split hand-split foot-deafness syndromeView → Split-foot malformation-mesoaxial polydactyly syndromeView → SPONASTRIME dysplasiaView → Spondylo-megaepiphyseal-metaphyseal dysplasiaView → Spondylo-ocular syndromeView → Spondylocamptodactyly syndromeView → Spondylocarpotarsal synostosis1 recruitingView → Spondylodysplastic Ehlers-Danlos syndromeConnective TissueView → SpondyloenchondrodysplasiaView → Spondyloepimetaphyseal dysplasia congenita, Strudwick typeConnective TissueView → Spondyloepimetaphyseal dysplasia with joint laxity, Beighton typeConnective TissueView → Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic typeConnective TissueView → Spondyloepimetaphyseal dysplasia-abnormal dentition syndromeConnective TissueView → Spondyloepimetaphyseal dysplasia-hypotrichosis syndromeConnective TissueView → Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndromeConnective TissueView → Spondyloepimetaphyseal dysplasia, aggrecan typeConnective TissueView → Spondyloepimetaphyseal dysplasia, Bieganski typeConnective TissueView → Spondyloepimetaphyseal dysplasia, Geneviève typeConnective TissueView → Spondyloepimetaphyseal dysplasia, Handigodu typeConnective TissueView → Spondyloepimetaphyseal dysplasia, Irapa typeConnective TissueView → Spondyloepimetaphyseal dysplasia, Isidor-Toutain typeConnective TissueView → Spondyloepimetaphyseal dysplasia, Maroteaux typeConnective TissueView → Spondyloepimetaphyseal dysplasia, matrilin-3 typeConnective TissueView → Spondyloepimetaphyseal dysplasia, Missouri typeConnective TissueView → Spondyloepimetaphyseal dysplasia, PAPSS2 typeConnective TissueView → Spondyloepimetaphyseal dysplasia, Shohat typeConnective TissueView → Spondyloepiphyseal DysplasiaConnective TissueView → Spondyloepiphyseal dysplasia congenitaConnective TissueView → Spondyloepiphyseal dysplasia tardaConnective TissueView → Spondyloepiphyseal dysplasia tarda, Kohn typeConnective TissueView → Spondyloepiphyseal dysplasia with metatarsal shorteningConnective TissueView → Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndromeConnective TissueView → Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndromeConnective TissueView → Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndromeConnective TissueView → Spondyloepiphyseal dysplasia, Byers typeConnective TissueView → Spondyloepiphyseal dysplasia, Kimberley typeConnective TissueView → Spondyloepiphyseal dysplasia, MacDermot typeConnective TissueView → Spondyloepiphyseal dysplasia, Omani typeConnective TissueView → Spondyloepiphyseal dysplasia, Reardon typeConnective TissueView → Spondyloepiphyseal dysplasia, Stanescu typeConnective TissueView → Spondylometaphyseal dysplasia with combined immunodeficiencyImmuneView → Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndromeView → Spondylometaphyseal dysplasia-cone-rod dystrophy syndromeOphthalmologicalView → Spondylometaphyseal dysplasia-corneal dystrophy syndromeOphthalmologicalView → Spondylometaphyseal dysplasia, 'corner fracture' typeView → Spondylometaphyseal dysplasia, A4 typeView → Spondylometaphyseal dysplasia, Czarny-Ratajczak typeView → Spondylometaphyseal dysplasia, Golden typeView → Spondylometaphyseal dysplasia, Kozlowski typeView → Spondylometaphyseal dysplasia, Schmidt typeView → Spondylometaphyseal dysplasia, Sedaghatian typeView → Spondyloperipheral dysplasia-short ulna syndromeView → Spontaneous heparin-induced thrombocytopeniaBloodView → Spontaneous intestinal perforationView → Spontaneous intracranial hypotension4 recruitingView → Spontaneous periodic hypothermiaView → Sporadic adult-onset ataxia of unknown etiology1 recruitingNeurologicalView → Sporadic fatal insomniaView → Sporadic fetal brain disruption sequenceView → Sporadic human prion diseaseNeurologicalGroupView → Sporadic hyperekplexiaView → Sporadic idiopathic steroid-resistant nephrotic syndromeRenalView → Sporadic infantile bilateral striatal necrosisView → Sporadic pheochromocytoma/secreting paragangliomaEndocrineView → Sporadic porphyria cutanea tardaBloodView → Sporotrichosis1 recruitingView → Spotted fever rickettsiosisGroupView → Sprengel deformityView → Squamous cell carcinoma of gallbladder and extrahepatic biliary tractOncologyView → Squamous cell carcinoma of head and neckOncologyGroupView → Squamous cell carcinoma of liver and intrahepatic biliary tractOncologyView → Squamous cell carcinoma of oral cavity and lipOncologyGroupView → Squamous cell carcinoma of pancreas46 recruitingOncologyView → Squamous cell carcinoma of the anal canal5 recruitingOncologyView → Squamous cell carcinoma of the cervix uteri2 recruitingOncologyView → Squamous cell carcinoma of the colon26 recruitingOncologyView → Squamous cell carcinoma of the corpus uteri2 recruitingOncologyView → Squamous cell carcinoma of the esophagus218 recruitingOncologyView → Squamous cell carcinoma of the hypopharynx35 recruitingOncologyView → Squamous cell carcinoma of the larynx40 recruitingOncologyView → Squamous cell carcinoma of the lip18 recruitingOncologyView → Squamous cell carcinoma of the nasal cavity and paranasal sinuses3 recruitingOncologyView → Squamous cell carcinoma of the oral cavity92 recruitingOncologyView → Squamous cell carcinoma of the oral tongue7 recruitingOncologyView → Squamous cell carcinoma of the oropharynx91 recruitingOncologyView → Squamous cell carcinoma of the penis14 recruitingOncologyView → Squamous cell carcinoma of the rectum12 recruitingOncologyView → Squamous cell carcinoma of the small intestine20 recruitingOncologyView → Squamous cell carcinoma of the stomach38 recruitingOncologyView → SRD5A3-CDG1 recruitingView → SSR4-CDG1 recruitingView → St. Louis encephalitisView → ST3GAL3-CDGView → STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeView → Stapes ankylosis with broad thumbs and toesView → Staphylococcal necrotizing pneumoniaView → Staphylococcal scalded skin syndromeView → Staphylococcal scarlet feverView → Staphylococcal toxemiaGroupView → Staphylococcal toxic-shock syndrome1 recruitingView → Stargardt Disease22 recruitingOphthalmologicalView → Startle epilepsyNeurologicalView → STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeImmuneView → STAT3-related early-onset multisystem autoimmune diseaseImmuneView → Steatocystoma multiplex-natal teeth syndromeView → Steel syndromeView → Stellate multiform amelanotic choroidopathyView → Stellate non-hereditary idiopathic foveomacular retinoschisisOphthalmologicalView → Sterile multifocal osteomyelitis with periostitis and pustulosisView → Sternal cleftView → Sternal malformation-vascular dysplasia syndromeView → Steroid dehydrogenase deficiency-dental anomalies syndromeView → Steroid-responsive encephalopathy associated with autoimmune thyroiditis28 recruitingNeurologicalView → Steroid-sensitive nephrotic syndrome without renal biopsyRenalView → Sterol biosynthesis disorderGroupView → Sterol metabolism disorderGroupView → Sterol metabolism disorder with epilepsyNeurologicalGroupView → Stevens-Johnson syndrome3 recruitingView → Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome1 recruitingView → Stevens-Johnson syndrome/toxic epidermal necrolysis spectrumView → Stickler Syndrome2 recruitingConnective TissueView → Stickler syndrome type 12 recruitingView → Stickler syndrome type 22 recruitingView → Stiff Person Syndrome2 recruitingNeurologicalView → Stiff skin syndrome1 recruitingView → Stimmler syndromeView → STING-associated vasculopathy with onset in infancyView → Stormorken-Sjaastad-Langslet syndromeView → Straatsma syndromeView → Straddling and/or overriding mitral valveView → Straddling or overriding tricuspid valveView → Streptobacillary rat-bite feverView → Streptococcal toxic-shock syndromeView → Streptococcus pneumoniae-associated hemolytic uremic syndromeView → Striate palmoplantar keratodermaDermatologicalView → Stromal corneal dystrophyOphthalmologicalGroupView → Stromme syndromeView → StrongyloidiasisView → Structural developmental eye defectGroupView → Structural developmental eye defect of genetic originGroupView → Structural heart defects-renal anomalies syndromeRenalView → STT3A-CDGView → STT3B-CDGView → Sturge-Weber Syndrome7 recruitingNeurologicalView → Stüve-Wiedemann syndromeView → STXBP1-related encephalopathy3 recruitingNeurologicalView → Sub-cortical nodular heterotopiaNeurologicalView → Subacute cutaneous lupus erythematosus4 recruitingView → Subacute inflammatory demyelinating polyneuropathyView → Subacute sclerosing leukoencephalitisView → Subaortic course of innominate veinView → Subaortic stenosis-short stature syndromeCardiovascularView → Subcorneal pustular dermatosisOphthalmologicalView → Subcortical band heterotopiaNeurologicalView → Subcutaneous panniculitis-like T-cell lymphoma2 recruitingBloodView → Subcutaneous tissue diseaseGroupView → Subependymal giant cell astrocytomaView → Subependymal nodular heterotopiaNeurologicalView → SubependymomaView → Subepithelial mucinous corneal dystrophyOphthalmologicalView → Submucosal cleft palateView → Subpulmonary stenosisRespiratoryView → Succinic acidemiaMetabolicView → Succinic semialdehyde dehydrogenase deficiency1 recruitingView → Succinyl-CoA:3-oxoacid CoA transferase deficiencyView → Sudden infant death-dysgenesis of the testes syndromeView → Sugarman brachydactylyView → Sulfation-related bone disorderGroupView → Sulfite oxidase deficiency due to molybdenum cofactor deficiencyView → Sulfite oxidase deficiency due to molybdenum cofactor deficiency type AView → Sulfite oxidase deficiency due to molybdenum cofactor deficiency type BView → Sulfite oxidase deficiency due to molybdenum cofactor deficiency type CView → Summitt syndromeView → SUNCT syndromeView → Superficial corneal dystrophyOphthalmologicalGroupView → Superficial epidermolytic ichthyosisDermatologicalView → Superficial siderosis1 recruitingView → Superior limbic keratoconjunctivitisView → Superior mesenteric artery syndrome3 recruitingView → Supernumerary breasts5 recruitingView → Supernumerary kidney4 recruitingRenalView → Supernumerary nostrilView → Supranuclear eye movement disorderGroupView → Supratip dysplasiaView → Supravalvular aortic stenosis8 recruitingView → Supravalvular pulmonary stenosis1 recruitingRespiratoryView → SURF1-related Charcot-Marie-Tooth disease type 4View → Susac syndrome1 recruitingView → Susceptibility to infection due to TYK2 deficiencyView → Susceptibility to respiratory infections associated with CD8alpha chain mutationView → Susceptibility to viral and mycobacterial infections due to STAT1 deficiencyView → Sweet syndrome2 recruitingView → Symbrachydactyly of hands and feetView → Symmetrical thalamic calcificationsView → Sympathetic ophthalmiaOphthalmologicalView → Symphalangism with multiple anomalies of hands and feetView → Symptomatic form of Coffin-Lowry syndrome in female carriersView → Symptomatic form of HFE-related hemochromatosisView → Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriersNeuromuscularView → Symptomatic form of X-linked centronuclear myopathy in female carriersNeuromuscularView → Synaptic congenital myasthenic syndromeView → Syndactyly type 1View → Syndactyly type 2View → Syndactyly type 3View → Syndactyly type 4View → Syndactyly type 5View → Syndactyly type 6View → Syndactyly type 8View → Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndromeView → Syndactyly-nystagmus syndrome due to 2q31.1 microduplicationView → Syndactyly-polydactyly-ear lobe syndromeView → Syndactyly-telecanthus-anogenital and renal malformations syndromeRenalView → Syndesmodysplasic dwarfismView → Syndome with combined immunodeficiency due to thymic defectImmuneGroupView → Syndrome associated with dilated cardiomyopathyNeuromuscularGroupView → Syndrome associated with hypertrophic cardiomyopathyNeuromuscularGroupView → Syndrome or malformation associated with head and neck malformationsGroupView → Syndrome with 46,XX difference of sex developmentGroupView → Syndrome with 46,XY difference of sex developmentGroupView → Syndrome with a central nervous system malformation as a major featureGroupView → Syndrome with a cerebellar malformation as a major featureNeurologicalGroupView → Syndrome with a Dandy-Walker malformation as a major featureGroupView → Syndrome with alpha-thalassemia as a major featureBloodGroupView → Syndrome with combined immunodeficiencyImmuneGroupView → Syndrome with congenital neutropenia as a major featureBloodGroupView → Syndrome with congenital phagocyte functional defect as a major featureGroupView → Syndrome with corpus callosum agenesis/dysgenesis as a major featureGroupView → Syndrome with difference of sex development of gynecological interestGroupView → Syndrome with hypoparathyroidismEndocrineGroupView → Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangyGroupView → Syndrome with limb malformations as a major featureGroupView → Syndrome with limb reduction defectsGroupView → Syndrome with microcephaly as a major featureGroupView → Syndrome with pulmonary hypertension as a major featureRespiratoryGroupView → Syndrome with synostosis or other joint formation defectGroupView → Syndrome with woolly hairGroupView → Syndromic agammaglobulinemiaImmuneGroupView → Syndromic aniridiaGroupView → Syndromic ankyloblepharon filiforme adnatumGroupView → Syndromic anorectal malformationGroupView → Syndromic autoimmune enteropathy due to LRBA deficiencyImmuneView → Syndromic beta-thalassemiaBloodGroupView → Syndromic breast hypoplasia/aplasiaGroupView → Syndromic cataractGroupView → Syndromic congenital sodium diarrheaView → Syndromic constitutional thrombocytopeniaBloodGroupView → Syndromic corneal dystrophyOphthalmologicalGroupView → Syndromic craniosynostosisGroupView → Syndromic diaphragmatic or abdominal wall malformationGroupView → Syndromic diaphragmatic or thoracic malformationGroupView → Syndromic disorder with strabismusGroupView → Syndromic ectopia lentisGroupView → Syndromic epicanthusGroupView → Syndromic esophageal malformationGroupView → Syndromic eyelid colobomaGroupView → Syndromic gastroduodenal malformationGroupView → Syndromic genetic cataractGroupView → Syndromic genetic disorder with strabismusGroupView → Syndromic genetic ectopia lentisGroupView → Syndromic genetic keratoconusGroupView → Syndromic hair shaft abnormalityGroupView → Syndromic hereditary optic neuropathyGroupView → Syndromic hyperopiaGroupView → Syndromic hypothyroidismEndocrineGroupView → Syndromic intestinal malformationGroupView → Syndromic keratoconusGroupView → Syndromic lacrimal system disorderGroupView → Syndromic microphthalmia type 5OphthalmologicalView → Syndromic microphthalmia-anophthalmia-colobomaOphthalmologicalGroupView → Syndromic microspherophakiaGroupView → Syndromic multisystem autoimmune disease due to Itch deficiencyImmuneView → Syndromic nail anomalyGroupView → Syndromic obesityGroupView → Syndromic oculocutaneous albinismGroupView → Syndromic optic nerve hypoplasiaGroupView → Syndromic orbital border hypoplasiaView → Syndromic outer canthal malpositionGroupView → Syndromic recessive X-linked ichthyosisDermatologicalView → Syndromic renal or urinary tract malformationRenalGroupView → Syndromic respiratory or mediastinal malformationGroupView → Syndromic sensorineural deafness due to combined oxidative phosphorylation defectView → Syndromic telecanthusGroupView → Syndromic urogenital tract malformationGroupView → Syndromic uterovaginal malformationGroupView → Syndromic visceral malformation of the liver, biliary tract, pancreas or spleenGroupView → Syndromic X-linked intellectual disability 71 recruitingView → SYNGAP1-related developmental and epileptic encephalopathyNeurologicalView → Syngnathia-cleft palate syndromeView → Synovial sarcoma25 recruitingOncologyView → Synpolydactyly type 1View → Synpolydactyly type 2View → Synpolydactyly type 3View → Syringocystadenoma papilliferumView → Systemic autoimmune diseaseImmuneGroupView → Systemic capillary leak syndromeView → Systemic cystic angiomatosis-Seip syndromeView → Systemic disease with glomerulopathy as a major featureRenalGroupView → Systemic disease with skin involvementGroupView → Systemic diseases with anterior uveitisGroupView → Systemic diseases with panuveitisGroupView → Systemic diseases with posterior uveitisGroupView → Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood1 recruitingView → Systemic inflammatory disease associated with an acquired peripheral neuropathyGroupView → Systemic MastocytosisImmuneView → Systemic mastocytosis with associated hematologic neoplasm4 recruitingView → Systemic monochloroacetate poisoningView → Systemic polyarteritis nodosa5 recruitingView → Systemic primary carnitine deficiency2 recruitingView → Systemic sclerosis156 recruitingView → Systemic vasculitis associated with glomerulopathyImmuneGroupView → Systemic-onset juvenile idiopathic arthritis12 recruitingView →