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1845 Result(s)
- S cone monochromacy
- S cone monochromatism
- S-adenosylhomocysteine hydrolase deficiency
- S. pneumoniae-associated HUS
- Sabia hemorrhagic fever
- Saccharopine dehydrogenase deficiency
- Saccharopinuria
- Saccular LDM
- Saccular limited dorsal myeloschisis
- Saccular spinal dysraphism with a stalk to the dome
- Sack-Barabas syndrome
- sACL
- Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
- Sacral meningocele-conotruncal heart defects syndrome
- SACRAL syndrome
- Sacrococcygeal teratoma
- SADDAN
- Saethre-Chotzen syndrome
- Sagliker syndrome
- Saint Louis encephalitis
- Saito-Kuba-Tsuruta syndrome
- Salcedo syndrome
- Saldino-Mainzer syndrome
- Salih ataxia
- Salih myopathy
- Salivary gland type cancer of the breast
- Salivary gland type carcinoma of the breast
- Salla disease
- Salt-losing tubular disorder, Henle's loop type
- Salt-wasting tubulopathy, Henle's loop type
- Salti-Salem syndrome
- SAM syndrome
- SAMD9L-associated autoinflammatory syndrome
- SAMD9L-SAAD
- SAMS 1-31
- SAMS syndrome
- San Joaquin valley fever
- San Luis Valley syndrome
- Sandhoff disease
- Sandhoff disease, adult form
- Sandhoff disease, infantile form
- Sandhoff disease, juvenile form
- Sandifer syndrome
- SANDO
- Sandrow syndrome
- Sanfilippo disease
- Sanfilippo syndrome
- Sanfilippo syndrome type A
- Sanfilippo syndrome type B
- Sanfilippo syndrome type C
- Sanfilippo syndrome type D
- Sanjad-Sakati syndrome
- Santavuori congenital muscular dystrophy
- Santos-Mateus-Leal syndrome
- SAO
- SAOA
- SAPHO syndrome
- Sarcocystosis
- Sarcoglycanopathy
- Sarcoidosis
- Sarcoma of cervix uteri
- Sarcoma of the corpus uteri
- Sarcosine dehydrogenase complex deficiency
- Sarcosinemia
- Sarcosporidiosis
- Sarcotubular myopathy
- SARS
- SARS-1
- SAS
- SATB2-associated syndrome
- SATB2-associated syndrome due to a chromosomal rearrangement
- SATB2-associated syndrome due to a pathogenic variant
- SATB2-associated syndrome due to a point mutation
- Satoyoshi syndrome
- Saturnism
- SAVI
- Say-Barber-Biesecker-Young-Simpson syndrome
- Say-Barber-Hobbs syndrome
- Say-Barber-Miller syndrome
- Say-Meyer syndrome
- SBA
- SBBYS variant of Ohdo syndrome
- SBBYSS
- SBCAD deficiency
- SBDS-related severe neonatal SMD
- SBDS-related severe neonatal spondylometaphyseal dysplasia
- SBIDDS
- SBMA
- SC phocomelia
- SC pseudothalidomide syndrome
- SCA1
- SCA10
- SCA11
- SCA12
- SCA13
- SCA14
- SCA15/16
- SCA17
- SCA18
- SCA19/22
- SCA2
- SCA20
- SCA21
- SCA23
- SCA25
- SCA26
- SCA27A
- SCA28
- SCA29
- SCA3
- SCA3, Joseph type
- SCA3, Machado type
- SCA3, Thomas type
- SCA30
- SCA31
- SCA32
- SCA34
- SCA35
- SCA36
- SCA37
- SCA38
- SCA4
- SCA40
- SCA41
- SCA42
- SCA43
- SCA45
- SCA46
- SCA5
- SCA6
- SCA7
- SCA8
- SCABD
- SCAD deficiency
- SCADD
- SCAE
- Scalp defects-postaxial polydactyly syndrome
- SCALP syndrome
- Scalp-ear-nipple syndrome
- SCAN 2
- SCAN1
- SCAP
- Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
- Scapuloiliac dysostosis
- Scapuloperoneal neuronopathy
- Scapuloperoneal spinal muscular atrophy
- SCAR1
- SCAR10
- SCAR11
- SCAR12
- SCAR13
- SCAR14
- SCAR15
- SCAR16
- SCAR17
- SCAR18
- SCAR19
- SCAR2
- SCAR20
- SCAR21
- SCAR23
- SCAR3
- SCAR4
- SCAR5
- SCAR6
- SCAR7
- SCAR8
- SCAR9
- SCARF syndrome
- Scarlatina
- Scarlet fever
- Scarring in glaucoma filtration surgical procedures
- SCASI
- SCAX3
- SCAX4
- SCCB
- SCCD
- SCCO
- SCD
- SCD syndrome
- SCD-EDS
- Scedosporiosis
- SCFE
- Schaaf-Yang syndrome
- Schaap-Taylor-Baraitser syndrome
- SCHAD deficiency
- Schauder syndrome
- Scheie syndrome
- Schilbach-Rott syndrome
- Schilder disease
- Schimke immuno-osseous dysplasia
- Schimke syndrome
- Schimmelpenning syndrome
- Schindler disease
- Schindler disease type 1
- Schindler disease type 2
- Schindler disease type 3
- Schinzel syndrome
- Schinzel-Giedion syndrome
- Schisis association
- Schistosomiasis
- Schizencephaly
- Schlichting dystrophy
- Schmidt syndrome
- Schmitt-Gillenwater-Kelly syndrome
- Schneckenbecken dysplasia
- Schnitzler syndrome
- Schnyder corneal dystrophy
- Schnyder crystalline corneal dystrophy
- Schnyder crystalline dystrophy sine crystals
- Scholte-Begeer-van Essen syndrome
- Schuurs-Hoeijmakers syndrome
- Schwartz-Jampel syndrome
- Schwartz-Jampel syndrome type 1
- Schwartz-Jampel syndrome type 2
- Schwartz-Jampel-Aberfeld syndrome
- Schöpf-Schulz-Passarge syndrome
- SCID
- SCID due to adenosine deaminase deficiency
- SCID due to ARTEMIS deficiency
- SCID due to complete RAG1/2 deficiency
- SCID due to CORO1A deficiency
- SCID due to coronin-1A deficiency
- SCID due to CTPS1 deficiency
- SCID due to DCLRE1C deficiency
- SCID due to DNA-PKcs deficiency
- SCID due to FOXN1 deficiency
- SCID due to LAT deficiency
- SCID due to LCK deficiency
- SCID due to lymphocyte-specific protein tyrosine kinase deficiency
- SCID with sensorineural deafness
- SCID with sensorineural hearing loss
- SCID, Athabascan type
- SCID, Athabaskan type
- SCIDX1
- Scimitar syndrome
- SCLC
- Scleredema
- Scleroatrophic syndrome
- Scleroderma
- Scleromyxedema
- Scleromyxedema without monoclonal gammopathy
- Sclerosing bone dysplasia
- Sclerosing cholangitis
- Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome
- Sclerosing encapsulating peritonitis
- Sclerosing lymphocytic lobulitis
- Sclerosing mediastinitis
- Sclerosing mesenteritis
- Sclerosing perineurioma
- Sclerosteosis
- Sclerotylosis
- SCLS
- SCM
- SCM type 1
- SCM type 2
- SCM type I
- SCM type II
- SCN due to G6PC3 deficiency
- SCN due to JAGN1 deficiency
- SCN-developmental delay syndrome due to SRP54 deficiency
- SCN4
- SCN9A-related congenital insensitivity to pain
- Scorpion envenomation
- SCOT deficiency
- Scott craniodigital syndrome
- Scott syndrome
- Scott-Bryant-Graham syndrome
- Scott-Taor syndrome
- SCRA
- Scrub typhus
- SCS
- SD/THE
- SD1, Castilla type
- SD1, Lueken type
- SD1, Montagu type
- SD1, Weidenreich type
- SD1a
- SD1b
- SD1c
- SD1d
- SD2, Debeer type
- SD2, Malik type
- SD2, Vordingborg type
- SD2a
- SD2b
- SD2c
- SD3
- SD5
- SDCD, CHST3 type
- sdCHC
- SDRPL
- SDS
- SDYS
- Seaver-Cassidy syndrome
- Sebaceous gland anomaly
- Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
- Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
- Sebocystomatosis
- Seborrhea-like dermatitis with psoriasiform elements
- Seborrheic pemphigus
- SEC23B-CDG
- Seckel syndrome
- Second branchial cleft anomaly
- Second branchial cleft cyst
- Second branchial cleft fistula
- Secondary ILD specific to childhood associated with a connective tissue disease
- Secondary ILD specific to childhood associated with a systemic disease
- Secondary acute myeloid leukemia
- Secondary acute sensorineural hearing loss
- Secondary alpha-dystroglycanopathy
- Secondary AML
- Secondary avascular necrosis
- Secondary AVN
- Secondary central precocious puberty in boy
- Secondary central precocious puberty in female
- Secondary central precocious puberty in girl
- Secondary central precocious puberty in male
- Secondary CPP in boy
- Secondary CPP in female
- Secondary CPP in girl
- Secondary CPP in male
- Secondary dystroglycanopathy
- Secondary early-onset glaucoma
- Secondary early-onset glaucoma of genetic origin
- Secondary ectropion
- Secondary erythermalgia
- Secondary erythrocytosis
- Secondary erythromelalgia
- Secondary hemophagocytic lymphohistiocytosis
- Secondary HES
- Secondary hypereosinophilic syndrome
- Secondary hypoparathyroidism due to impaired parathormon secretion
- Secondary hypothyroidism
- Secondary ILD in childhood and adulthood
- Secondary ILD in childhood and adulthood associated with a connective tissue disease
- Secondary ILD in childhood and adulthood associated with a metabolic disease
- Secondary ILD in childhood and adulthood associated with a systemic disease
- Secondary ILD in childhood and adulthood associated with a systemic vasculitis
- Secondary ILD specific to adulthood associated with a systemic disease
- Secondary ILD specific to childhood associated with a granulomatous disease
- Secondary ILD specific to childhood associated with a metabolic disease
- Secondary ILD specific to childhood associated with a systemic vasculitis
- Secondary interstitial lung disease in childhood and adulthood
- Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
- Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
- Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
- Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
- Secondary interstitial lung disease specific to adulthood associated with a systemic disease
- Secondary interstitial lung disease specific to childhood associated with a connective tissue disease
- Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
- Secondary interstitial lung disease specific to childhood associated with a metabolic disease
- Secondary interstitial lung disease specific to childhood associated with a systemic disease
- Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
- Secondary intestinal lymphangiectasia
- Secondary neonatal autoimmune disease
- Secondary non-traumatic avascular necrosis
- Secondary non-traumatic AVN
- Secondary non-traumatic osteonecrosis
- Secondary PAH
- Secondary PAN
- Secondary PAP
- Secondary periarteritis nodosa
- Secondary polyarteritis nodosa
- Secondary polycythemia
- Secondary pseudohypoaldosteronism
- Secondary pulmonary alveolar proteinosis
- Secondary pulmonary hemosiderosis
- Secondary sclerosing cholangitis
- Secondary short bowel syndrome
- Secondary SRNS
- Secondary steroid-resistant nephrotic syndrome
- Secondary syringomyelia
- Secondary vasculitis
- SECORD
- Secreting pituitary adenoma
- SED and SEMD
- SED with metatarsal shortening
- SED, Stanescu type
- SED-BDS
- SEDC
- Sedlackova syndrome
- Seemanova syndrome type 2
- Seemanova-Lesny syndrome
- SEGA
- Seghers syndrome
- Segmental arterial mediolysis
- Segmental hemangioma of infancy
- Segmental hyalinizing vasculitis
- Segmental odontomaxillary dysplasia
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
- Segmental spinal dysgenesis
- SEI
- Seitelberger disease
- Seizures-intellectual disability due to hydroxylysinuria syndrome
- Seizures-scoliosis-macrocephaly syndrome
- Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
- Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
- SeLEAS
- Selective anti-polysaccharide antibody deficiency
- Selective cobalamin malabsorption with proteinuria
- Selective fetal growth restriction
- Selective IgG subclass deficiency
- Selective IgM deficiency
- Selective immunoglobulin M deficiency
- Selective intrauterine growth restriction
- Selective tooth agenesis
- SeLECTS
- Self-healing collodion baby
- Self-healing papular mucinosis
- Self-healing squamous epithelioma type 1
- Self-improving collodion baby
- Self-improving congenital ichthyosis
- Self-improving DEB
- Self-improving dystrophic epidermolysis bullosa
- Self-limited childhood occipital epilepsy
- Self-limited epilepsy with autonomic seizures
- Self-limited epilepsy with centrotemporal spikes
- Self-limited infantile epilepsy
- Self-limited neonatal epilepsy
- Self-limited neonatal-infantile epilepsy
- SeLFNIE
- SeLIE
- Sellars-Beighton syndrome
- SeLNE
- Semantic dementia
- Semantic primary progressive aphasia
- Semantic variant PPA
- SEMD type 2
- SEMD, aggrecan type
- SEMD, Geneviève type
- SEMD, Irapa type
- SEMD, Maroteaux type
- SEMD, MATN3-related
- SEMD, matrilin-3 type
- SEMD, Missouri type
- SEMD, Shohat type
- SEMD-JL1
- SEMD-JL3
- SEMD-M
- SEMD-MD
- SEMDAD
- SEMDG
- SEMDIST
- SEMDJL1
- SEMDJL2
- SEMDJL3
- Semicircular canal dehiscence syndrome
- Semicircular lipoatrophy
- Semilobar holoprosencephaly
- Seminoma of testis
- Seminomatous germ cell tumor of testis
- SENDA
- Senear-Usher syndrome
- Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1
- Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
- Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutations, type 2
- Sengers syndrome
- Sengers-Hamel-Otten syndrome
- Senile systemic amyloidosis
- Senior syndrome
- Senior-Boichis syndrome
- Senior-Loken syndrome
- Sensenbrenner syndrome
- Sensorineural deafness with dilated cardiomyopathy
- Sensorineural deafness with imperforate anus and hypoplastic thumbs
- Sensorineural deafness-early graying-essential tremor syndrome
- Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome
- Sensorineural hearing loss with dilated cardiomyopathy
- Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
- Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome
- Sensorineural hearing loss-early graying-essential tremor syndrome
- Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
- Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- Senter syndrome
- SEOAN due to MFN2 deficiency
- SEOAN due to NEFL deficiency
- Sepiapterin reductase deficiency
- Sepsis in premature infants
- Septate uterus
- Septate vagina
- Septic phlebitis of the internal jugular vein
- Septo-optic dysplasia
- Septo-optic dysplasia spectrum
- Septopreoptic holoprosencephaly
- Septopreoptic HPE
- Serine biosynthesis pathway deficiency, infantile/juvenile form
- Serine deficiency
- SERKAL syndrome
- Seroma-associated ALCL
- Seromucinous cystadenoma of childhood
- Seromucinous cystadenoma of ovary in childhood
- Seronegative AIH
- Seronegative autoimmune hepatitis
- Serotonergic syndrome
- Serotonin storm
- Serotonin syndrome
- Serotonin toxicity
- Serotonin toxidrome
- Serotonin-producing neuroendocrine tumor of pancreas
- Serotonin-producing pancreatic NET
- Serotonin-producing pancreatic neuroendocrine tumor
- Serotonin-producing PNET
- Serous carcinoma of the corpus uteri
- Serous cystadenocarcinoma of pancreas
- Serous cystadenoma of childhood
- Serous cystadenoma of ovary in childhood
- Serous maculopathy due to aspecific choroidopathy
- Serous surface papillary carcinoma
- Serpentine-like syndrome
- Serpiginous choroiditis
- Serpinopathy
- Serpinopathy with loss of serpin function
- Serpinopathy with toxic serpin polymerization
- Serrated polyposis syndrome
- Servelle-Martorell syndrome
- SeSAME syndrome
- SETBP1 haploinsufficiency disorder
- SETBP1-HD
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
- SETD2-related overgrowth syndrome
- Setleis syndrome
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- Severe acute respiratory syndrome
- Severe aldosterone synthase deficiency
- Severe autosomal recessive macrothrombocytopenia
- Severe C12ORF65-related combined oxidative phosphorylation defect
- Severe C12ORF65-related COXPD
- Severe Canavan disease
- Severe combined immunodeficiency
- Severe combined immunodeficiency due to adenosine deaminase deficiency
- Severe combined immunodeficiency due to ARTEMIS deficiency
- Severe combined immunodeficiency due to complete RAG1/2 deficiency
- Severe combined immunodeficiency due to CORO1A deficiency
- Severe combined immunodeficiency due to coronin-1A deficiency
- Severe combined immunodeficiency due to CTPS1 deficiency
- Severe combined immunodeficiency due to DCLRE1C deficiency
- Severe combined immunodeficiency due to DNA-PKcs deficiency
- Severe combined immunodeficiency due to FOXN1 deficiency
- Severe combined immunodeficiency due to LAT deficiency
- Severe combined immunodeficiency due to LCK deficiency
- Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
- Severe combined immunodeficiency with sensorineural deafness
- Severe combined immunodeficiency with sensorineural hearing loss
- Severe combined immunodeficiency, Athabascan type
- Severe combined immunodeficiency, Athabaskan type
- Severe congenital encephalopathy due to MECP2 mutation
- Severe congenital F8 deficiency
- Severe congenital F9 deficiency
- Severe congenital factor IX deficiency
- Severe congenital factor VIII deficiency
- Severe congenital heart defects-renal anomalies syndome
- Severe congenital hypochromic anemia with ringed sideroblasts
- Severe congenital hypochromic sideroblastic anemia
- Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
- Severe congenital nemaline myopathy
- Severe congenital neutropenia
- Severe congenital neutropenia due to G6PC3 deficiency
- Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
- Severe congenital neutropenia due to JAGN1 deficiency
- Severe congenital neutropenia due to jagunal homolog 1 deficiency
- Severe congenital neutropenia type 3
- Severe congenital neutropenia type 4
- Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency
- Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency
- Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
- Severe dermatitis-multiple allergies-metabolic wasting syndrome
- Severe disseminated CMV infection in immunocompetent patients
- Severe disseminated cytomegalovirus infection in immunocompetent patients
- Severe dystrophinopathy, Duchenne and Becker type
- Severe dystrophinopathy, Duchenne type
- Severe early-childhood-onset retinal dystrophy
- Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
- Severe early-onset axonal neuropathy due to MFN2 deficiency
- Severe early-onset axonal neuropathy due to NEFL deficiency
- Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
- Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
- Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
- Severe generalized JEB
- Severe generalized junctional epidermolysis bullosa
- Severe generalized RDEB
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- Severe Hallermann-Streiff-François syndrome
- Severe hemolytic anemia due to G6PD deficiency
- Severe hemophilia A
- Severe hemophilia B
- Severe hereditary thrombophilia due to congenital protein C deficiency
- Severe hereditary thrombophilia due to congenital protein S deficiency
- Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- Severe immune-mediated enteropathy
- Severe infantile axonal neuropathy with respiratory failure type 1
- Severe infantile axonal neuropathy with respiratory failure type 2
- Severe intellectual disability and progressive spastic paraplegia
- Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
- Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
- Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
- Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
- Severe limb deficit
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
- Severe myoclonic epilepsy of infancy
- Severe myoclonus epilepsy of infancy
- Severe myopia-generalized joint laxity-short stature syndrome
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
- Severe neurodegenerative syndrome due to BSCL2 deficiency
- Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
- Severe oculo-renal-cerebellar syndrome
- Severe osteogenesis imperfecta
- Severe PBD-ZSD
- Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
- Severe phosphoribosylpyrophosphate synthetase superactivity
- Severe PMD
- Severe primary trimethylaminuria
- Severe PRPP synthetase superactivity
- Severe PRPS1 superactivity
- Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
- Severe X-linked intellectual disability, Gustavson type
- Severe X-linked mitochondrial encephalomyopathy
- Sex chromosome difference of sex development
- Sex chromosome disorder of sex development
- Sex chromosome DSD
- Sex cord-stromal tumor of testis
- Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
- Sex-chromosome anomaly syndrome
- Sex-chromosome number anomaly syndrome
- Sex-chromosome structural anomaly syndrome
- sFGR
- SFMMP
- SFRP4-related Pyle disease
- SFT
- SGBS
- SGBS1
- SGF
- SGFLD syndrome
- SGLT1 deficiency
- SGLT2 deficiency
- SGS
- SGS
- Shabbir syndrome
- Shah-Waardenburg syndrome
- Shaheen syndrome
- Shapiro syndrome
- Sharma-Kapoor-Ramji syndrome
- Sharp syndrome
- Shashi-Pena syndrome
- SHCB
- SHDRA syndrome
- SHE
- Sheehan syndrome
- Sheldon-Hall syndrome
- SHFLD syndrome
- SHFM
- SHFM associated with aplasia of long bones
- Shiga toxin-associated hemolytic uremic syndrome
- Shiga-like toxin-associated HUS
- Shigellosis
- SHILCA syndrome
- SHML
- Shokeir syndrome
- Shone complex
- Short Achilles tendon
- Short bowel syndrome
- Short chain acyl-CoA dehydrogenase deficiency
- Short fifth metacarpals-insulin resistance syndrome
- Short limb skeletal dysplasia with SCID
- Short rib dysplasia
- Short rib-polydactyly syndrome
- Short rib-polydactyly syndrome type 1
- Short rib-polydactyly syndrome type 2
- Short rib-polydactyly syndrome type 3
- Short rib-polydactyly syndrome type 4
- Short rib-polydactyly syndrome type 5
- Short rib-polydactyly syndrome, Beemer-Langer type
- Short rib-polydactyly syndrome, Majewski type
- Short rib-polydactyly syndrome, Saldino-Noonan type
- Short rib-polydactyly syndrome, Verma-Naumoff type
- Short stature due to a defect in growth hormone receptor or post-receptor pathway
- Short stature due to GHSR deficiency
- Short stature due to growth hormone qualitative anomaly
- Short stature due to growth hormone resistance
- Short stature due to growth hormone secretagogue receptor deficiency
- Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
- Short stature due to partial GHR deficiency
- Short stature due to partial growth hormone receptor deficiency
- Short stature due to primary acid-labile subunit deficiency
- Short stature due to STAT5b deficiency
- Short stature, Brussels type
- Short stature-advanced bone age-early-onset osteoarthritis syndrome
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
- Short stature-brachydactyly-obesity-global developmental delay syndrome
- Short stature-craniofacial anomalies-genital hypoplasia syndrome
- Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
- Short stature-delayed bone age due to thyroid hormone metabolism deficiency
- Short stature-developmental delay-congenital heart defect syndrome
- Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
- Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome
- Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome
- Short stature-locking fingers syndrome
- Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
- Short stature-optic atrophy-Pelger-Huët anomaly syndrome
- Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
- Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
- Short stature-pituitary and cerebellar defects-small sella turcica syndrome
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
- Short stature-valvular heart disease-characteristic facies syndrome
- Short stature-webbed neck-heart disease syndrome
- Short stature-wormian bones-dextrocardia syndrome
- SHORT syndrome
- Short tarsus-absence of lower eyelashes syndrome
- Short tendo calcaneus
- Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
- Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing
- Short-limb skeletal dysplasia with severe combined immunodeficiency
- Short/branched-chain acyl-coA dehydrogenase deficiency
- SHOX-related short stature
- Shprintzen syndrome
- Shprintzen-Goldberg syndrome
- Shulman syndrome
- Shwachman syndrome
- Shwachman-Bodian-Diamond syndrome
- Shwachman-Diamond syndrome
- Sialidosis
- Sialidosis type 1
- Sialidosis type 2
- Sialuria
- Sialuria, French type
- Siamese twins
- SIANRF
- sIBM
- SICI
- Sickle cell anemia
- Sickle cell disease and related diseases
- Sickle cell disease associated with another hemoglobin anomaly
- Sickle cell SC disease
- Sickle cell SD Punjab
- Sickle cell SE disease
- Sickle cell-beta-plus-thalassemia
- Sickle cell-beta-thalassemia disease syndrome
- Sickle cell-beta-zero-thalassemia
- Sickle cell-hemoglobin C disease
- Sickle cell-hemoglobin D disease
- Sickle cell-hemoglobin E disease
- Sickness of disembarkment
- SIDDT
- Sideroblastic anemia
- Sideropenic dysphagia
- Siegler-Brewer-Carey syndrome
- SIFD syndrome
- Sifrim-Hitz-Weiss syndrome
- Silent pituitary adenoma
- Silent sinus syndrome
- Sillence syndrome
- Silver staining
- Silver syndrome
- Silver-Russell dwarfism
- Silver-Russell syndrome
- Silver-Russell syndrome due to 11p15 microduplication
- Silver-Russell syndrome due to 7p11.2-p13 microduplication
- Silver-Russell syndrome due to 7p11.2p13 microduplication
- Silver-Russell syndrome due to a point mutation
- Silver-Russell syndrome due to an imprinting defect of 11p15
- Silver-Russell syndrome due to dup(7)(p11.2p13)
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- Silver-Russell syndrome due to trisomy 7p11.2-p13
- Silver-Russell syndrome due to trisomy 7p11.2p13
- SIM1-related Prader-Willi-like syndrome
- SIM1-related PWLS
- Simosa craniofacial syndrome
- Simosa-Penchaszadeh-Bustos syndrome
- Simple cryoglobulinemia
- Simple vascular malformation
- Simpson dysmorphia syndrome
- Simpson-Golabi-Behmel syndrome
- Simpson-Golabi-Behmel syndrome type 1
- SIN3-related intellectual disability syndrome due to a point mutation
- SIN3A-related intellectual disability syndrome
- Sinding-Larsen-Johansson disease
- Singh-Williams-McAlister syndrome
- Single isolated optic neuritis
- Single-organ PAN
- Single-organ periarteritis nodosa
- Single-organ polyarteritis nodosa
- Single-system Langerhans cell granulomatosis
- Single-system multifocal histiocytosis X
- Single-system multifocal Langerhans cell granulomatosis
- Single-system multifocal Langerhans cell histiocytosis
- Single-system pulmonary histiocytosis X
- Single-system pulmonary Langerhans cell histiocytosis
- Singleton-Merten dysplasia
- Singleton-Merten syndrome
- SINO syndrome
- Sinoatrial node dysfunction and deafness
- Sinoatrial node dysfunction and hearing loss
- Sinus histiocytosis with massive lymphadenopathy
- Sinus of Valsalva aneurysm
- Sinusitis-infertility syndrome
- Sinusoidal obstruction syndrome
- SION
- SIP
- Sipple syndrome
- Sirenomelia
- Sitosterolemia
- Situs ambiguous
- Situs ambiguus
- Situs inversus
- Situs inversus totalis
- sIUGR
- SIX2-related FND
- SIX2-related frontonasal dysplasia
- SJS
- SJS-TEN
- SJS/TEN overlap syndrome
- SJS1
- SJS2
- Sjögren-Larsson syndrome
- Skeletal dysplasia, Greenberg type
- Skeletal dysplasia-brachydactyly syndrome
- Skeletal dysplasia-epilepsy-short stature syndrome
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Skeletal Ewing sarcoma
- Skeletal muscle disease
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
- Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
- Skin fragility-woolly hair-palmoplantar keratoderma syndrome
- Skin infectious botulism
- Skin toxin-mediated botulism
- Skin vascular disease
- Skraban-Deardorff syndrome
- SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
- SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
- SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
- SLC35A1-CDG
- SLC35A2-CDG
- SLC35A3-CDG
- SLC35C1-CDG
- SLC35D1-CDG
- SLC39A13-related spEDS
- SLC39A13-related spondylodysplastic EDS
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- SLC39A8 deficiency
- SLC39A8-CDG
- SLC40A1-related hemochromatosis
- SLC4A10-related neurodevelopmental disorder
- SLC6A8 deficiency
- SLE
- SLE, pediatric onset
- Sleep-related hypermotor epilepsy
- Sleeping sickness
- Slender bone dysplasia
- Slipped capital femoral epiphysis
- Slipped upper femoral epiphysis
- SLK
- SLOS
- SLSJ-COX deficiency
- SLSN
- Sly disease
- SM-AHN
- SM-AHNMD
- SMA
- SMA type 1
- SMA type 2
- SMA type 3
- SMA type 4
- SMA type I
- SMA type II
- SMA type III
- SMA type IV
- SMA-I
- SMA-II
- SMA-III
- SMA-IV
- SMA-PME
- SMA1
- SMA2
- SMA3
- SMA4
- SMABF
- SMACH
- SMAFK
- SMAJ
- SMALED
- SMALED1
- SMALED2
- Small bowel atresia
- Small bowel hereditary neuroendocrine tumor
- Small cell bladder cancer
- Small cell bladder carcinoma
- Small cell carcinoma of the bladder
- Small cell carcinoma of the ovary
- Small cell carcinoma of the urinary bladder
- Small cell lung cancer
- Small cell ovarian carcinoma
- Small intestinal atresia
- Small intestine hereditary neuroendocrine tumor
- Small lymphocytic lymphoma
- Small non-cleaved cell lymphoma
- Small omphalocele
- Small patella syndrome
- SMARCA2-related blepharophimosis-intellectual disability syndrome
- SMARCA4-deficient sarcoma of thorax
- SMARCA4-deficient thoracic sarcoma
- SMARD1
- SMARD2
- SMAS
- SMAX1
- SMAX2
- SMAX3
- SMCD
- SMCD
- SMD-corneal dystrophy syndrome
- SMD-CRD
- SMEI
- Smith-Kingsmore syndrome
- Smith-Lemli-Opitz syndrome
- Smith-Magenis syndrome
- Smith-McCort dysplasia
- SMO deficiency
- Smoldering systemic mastocytosis
- SMS
- SMZL
- Snakebite envenomation
- Sneddon syndrome
- Sneddon-Wilkinson disease
- Snijders Blok-Campeau syndrome
- Snijders Blok-Fisher syndrome
- Snowflake vitreoretinal degeneration
- Snyder-Robinson syndrome
- SOCS1-related autoinflammatory syndrome
- SOD
- Sodium-dependent multivitamin transporter deficiency
- Sodium/proton exchanger-3 deficiency
- Sodoku
- Soft and hard cleft palate
- Soft part sarcoma
- SOFT syndrome
- Soft tissue perineurioma
- Soft tissue sarcoma
- Sohval-Soffer syndrome
- SOLAMEN syndrome
- Solar urticaria
- Solid pseudopapillary carcinoma of pancreas
- Solid pseudopapillary neoplasm of the pancreas
- Solid tumor associated with an acquired peripheral neuropathy
- Solitary bone cyst
- Solitary fibrous tumor
- Solitary hypopigmented nevus of the retinal pigment epithelium
- Solitary mastocytoma
- Solitary necrotic nodule of the liver
- Solitary plasmacytoma
- Solitary rectal ulcer syndrome
- Solomon syndrome
- Somatolactotropinoma
- Somatomammotropinoma
- Somatoprolactinoma
- Somatostatinoma
- Somatotropic adenoma
- Somatotropinoma
- Sommer-Hines syndrome
- Sommer-Rathbun-Battles syndrome
- Sommer-Young-Wee-Frye syndrome
- Sonoda syndrome
- SOPH syndrome
- Sorsby pseudoinflammatory fundus dystrophy
- Sorsby syndrome
- Sotos syndrome
- Sotos syndrome 2
- Southeast Asian ovalocytosis
- SOVA
- SOX5 haploinsufficiency syndrome
- SP-HUS
- SPAD
- SPARCA
- SPARCA1
- Sparse hair-short stature-skin anomalies syndrome
- Spasmus nutans
- Spastic ataxia
- Spastic ataxia with congenital miosis
- Spastic ataxia-corneal dystrophy syndrome
- Spastic ataxia-dysarthria due to glutaminase deficiency
- Spastic ataxia-ocular anomalies syndrome
- Spastic gait type 2
- Spastic paraparesis type 2
- Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
- Spastic paraparesis-cataracts-speech delay syndrome
- Spastic paraparesis-deafness syndrome
- Spastic paraparesis-hearing loss syndrome
- Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
- Spastic paraplegia due to neuropathy target esterase mutation
- Spastic paraplegia due to NTE mutation
- Spastic paraplegia due to partial TFG deficiency
- Spastic paraplegia type 2
- Spastic paraplegia type 7
- Spastic paraplegia-amyotrophy of hands and feet
- Spastic paraplegia-facial-cutaneous lesions syndrome
- Spastic paraplegia-glaucoma-intellectual disability syndrome
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
- Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
- Spastic paraplegia-nephritis-deafness syndrome
- Spastic paraplegia-nephritis-hearing loss syndrome
- Spastic paraplegia-neuropathy-poikiloderma syndrome
- Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
- Spastic paraplegia-optic atrophy-neuropathy syndrome
- Spastic paraplegia-Paget disease of bone syndrome
- Spastic paraplegia-precocious puberty syndrome
- Spastic paraplegia-psychomotor retardation-seizures syndrome
- Spastic paraplegia-retinal degeneration syndrome
- Spastic paraplegia-severe developmental delay-epilepsy syndrome
- Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome
- Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- Spasticity-ataxia-gait anomalies syndrome
- SPAX
- SPAX1
- SPAX2
- SPAX3
- SPAX4
- SPAX5
- SPAX6
- SPAX7
- SPAX8
- SPCD
- SPD, Debeer type
- SPD, Malik type
- SPD, Vordingborg type
- SPD1
- SPD2
- SPD3
- Spear syndrome
- SPECC1L-related hypertelorism syndrome
- Specific anti-polysaccharide antibody deficiency
- Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
- Specific language disorder
- Specific learning difficulty
- Specific learning disability
- Specific learning disorder
- Specific polysaccharide antibody deficiency
- Spectrin-associated autosomal recessive cerebellar ataxia
- Spectrin-associated autosomal recessive cerebellar ataxia type 1
- spEDS
- spEDS-B3GALT6
- spEDS-B4GALT7
- spEDS-SLC39A13
- Speech and language disorder with orofacial dyspraxia
- Speech-language disorder type 1
- SPEN-related neurodevelopmental disorder
- SPENCD
- Spermatocytic seminoma
- SPG
- SPG1
- SPG10
- SPG11
- SPG12
- SPG13
- SPG14
- SPG15
- SPG16
- SPG17
- SPG18
- SPG19
- SPG2
- SPG20
- SPG21
- SPG23
- SPG24
- SPG25
- SPG26
- SPG27
- SPG28
- SPG29
- SPG30
- SPG31
- SPG32
- SPG34
- SPG35
- SPG36
- SPG37
- SPG38
- SPG39
- SPG3A
- SPG4
- SPG41
- SPG42
- SPG43
- SPG44
- SPG45
- SPG46
- SPG48
- SPG49
- SPG53
- SPG54
- SPG55
- SPG56
- SPG57
- SPG58
- SPG59
- SPG5A
- SPG6
- SPG60
- SPG61
- SPG62
- SPG63
- SPG64
- SPG65
- SPG66
- SPG67
- SPG69
- SPG7
- SPG70
- SPG71
- SPG72
- SPG73
- SPG74
- SPG75
- SPG76
- SPG77
- SPG78
- SPG8
- Spheroid body myopathy
- Spherophakia-brachymorphia syndrome
- Spherulocytosis
- Sphingolipidosis
- Sphingolipidosis with epilepsy
- Sphingosine phosphate lyase insufficiency syndrome
- Spigelian hernia-cryptorchidism syndrome
- Spina bifida and other spinal dysraphisms
- Spina bifida aperta
- Spina bifida cystica
- Spina bifida occulta
- Spina bifida-hypospadias syndrome
- Spinal arteriovenous metameric syndrome
- Spinal atrophy-ophthalmoplegia-pyramidal syndrome
- Spinal cord injury
- Spinal cord lipoma
- Spinal dermal sinus
- Spinal dysraphism with a posterior meningocele
- Spinal muscular atrophy associated with central nervous system anomaly
- Spinal muscular atrophy with arthrogryposis
- Spinal muscular atrophy with respiratory distress type 1
- Spinal muscular atrophy with respiratory distress type 2
- Spinal muscular atrophy, adult form
- Spinal muscular atrophy, Jokela type
- Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- Spindle cell hemangioendothelioma
- Spindle cell hemangioma
- Spinocerebellar ataxia and erythrokeratodermia
- Spinocerebellar ataxia autosomal recessive type 16
- Spinocerebellar ataxia autosomal recessive type 17
- Spinocerebellar ataxia autosomal recessive type 23
- Spinocerebellar ataxia type 1
- Spinocerebellar ataxia type 10
- Spinocerebellar ataxia type 11
- Spinocerebellar ataxia type 12
- Spinocerebellar ataxia type 13
- Spinocerebellar ataxia type 14
- Spinocerebellar ataxia type 15/16
- Spinocerebellar ataxia type 17
- Spinocerebellar ataxia type 18
- Spinocerebellar ataxia type 19/22
- Spinocerebellar ataxia type 2
- Spinocerebellar ataxia type 20
- Spinocerebellar ataxia type 21
- Spinocerebellar ataxia type 23
- Spinocerebellar ataxia type 25
- Spinocerebellar ataxia type 26
- Spinocerebellar ataxia type 27A
- Spinocerebellar ataxia type 27B
- Spinocerebellar ataxia type 28
- Spinocerebellar ataxia type 29
- Spinocerebellar ataxia type 3
- Spinocerebellar ataxia type 3, Joseph type
- Spinocerebellar ataxia type 3, Machado type
- Spinocerebellar ataxia type 30
- Spinocerebellar ataxia type 31
- Spinocerebellar ataxia type 32
- Spinocerebellar ataxia type 34
- Spinocerebellar ataxia type 35
- Spinocerebellar ataxia type 36
- Spinocerebellar ataxia type 37
- Spinocerebellar ataxia type 38
- Spinocerebellar ataxia type 4
- Spinocerebellar ataxia type 40
- Spinocerebellar ataxia type 41
- Spinocerebellar ataxia type 42
- Spinocerebellar ataxia type 43
- Spinocerebellar ataxia type 44
- Spinocerebellar ataxia type 45
- Spinocerebellar ataxia type 46
- Spinocerebellar ataxia type 48
- Spinocerebellar ataxia type 49
- Spinocerebellar ataxia type 5
- Spinocerebellar ataxia type 6
- Spinocerebellar ataxia type 7
- Spinocerebellar ataxia type 8
- Spinocerebellar ataxia with altered vertical eye movements
- Spinocerebellar ataxia with axonal neuropathy type 1
- Spinocerebellar ataxia with axonal neuropathy type 2
- Spinocerebellar ataxia with epilepsy
- Spinocerebellar ataxia, Thomas type
- Spinocerebellar ataxia-amyotrophy-deafness syndrome
- Spinocerebellar ataxia-amyotrophy-hearing loss syndrome
- Spinocerebellar ataxia-dysmorphism syndrome
- Spinocerebellar degeneration-corneal dystrophy syndrome
- Spirillary rat-bite fever
- Spitzer-Weinstein syndrome
- Splenic arteriovenous malformation
- Splenic cavernous malformation
- Splenic diffuse red pulp lymphoma
- Splenic diffuse red pulp small B-cell lymphoma
- Splenic marginal zone lymphoma
- Splenic slow flow venous malformation
- Splenic venous malformation
- Splenogonadal fusion-limb defects-micrognathia syndrome
- Splenomegaly-neutropenia-rheumatoid arthritis syndrome
- SPLIS
- Split cord malformation
- Split cord malformation associated with myeloschisis
- Split cord malformation type 1
- Split cord malformation type 1.5
- Split cord malformation type 2
- Split cord malformation type I
- Split cord malformation type II
- Split cord malformation, composite type
- Split cord malformation, intermediate type
- Split cord malformation, mixed type
- Split foot deformity-mandibulofacial dysostosis syndrome
- Split hand foot malformation
- Split hand with obstructive uropathy, spina bifida and diaphragmatic defects
- Split hand-split foot-deafness syndrome
- Split hand-split foot-hearing loss syndrome
- Split hand-urinary anomalies-spina bifida syndrome
- Split hand/foot malformation with long bone deficiency
- Split hand/split foot-mandibular hypoplasia syndrome
- Split hand/split foot-nystagmus syndrome
- Split notochord syndrome
- Split-foot malformation-mesoaxial polydactyly syndrome
- Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
- Split-hand/foot malformation associated with aplasia of long bones
- SPN
- SPOAN
- SPOAN and SPOAN-related disorder
- SPONASTRIME dysplasia
- Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
- Spondylo-humero-femoral dysplasia
- Spondylo-megaepiphyseal-metaphyseal dysplasia
- Spondylo-ocular syndrome
- Spondylocamptodactyly syndrome
- Spondylocarpotarsal synostosis
- Spondylocheirodysplastic Ehlers-Danlos syndrome
- Spondylodysplastic dysplasia
- Spondylodysplastic EDS
- Spondylodysplastic Ehlers-Danlos syndrome
- Spondyloenchondrodysplasia
- Spondyloenchondromatosis
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- Spondyloepimetaphyseal dysplasia type 2
- Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
- Spondyloepimetaphyseal dysplasia with joint laxity type 1
- Spondyloepimetaphyseal dysplasia with joint laxity type 2
- Spondyloepimetaphyseal dysplasia with joint laxity type 3
- Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
- Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
- Spondyloepimetaphyseal dysplasia with severe short stature
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondyloepimetaphyseal dysplasia, anauxetic type
- Spondyloepimetaphyseal dysplasia, Geneviève type
- Spondyloepimetaphyseal dysplasia, Handigodu type
- Spondyloepimetaphyseal dysplasia, Irapa type
- Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
- Spondyloepimetaphyseal dysplasia, Maroteaux type
- Spondyloepimetaphyseal dysplasia, matrilin-3 type
- Spondyloepimetaphyseal dysplasia, Menger type
- Spondyloepimetaphyseal dysplasia, Missouri type
- Spondyloepimetaphyseal dysplasia, Pakistani type
- Spondyloepimetaphyseal dysplasia, PAPSS2 type
- Spondyloepimetaphyseal dysplasia, Shohat type
- Spondyloepimetaphyseal dysplasia, Sponastrime type
- Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
- Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Spondyloepiphyseal dysplasia congenita
- Spondyloepiphyseal dysplasia tarda
- Spondyloepiphyseal dysplasia tarda, Kohn type
- Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
- Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
- Spondyloepiphyseal dysplasia with metatarsal shortening
- Spondyloepiphyseal dysplasia with severe brachydactyly-cone-shaped epiphyses
- Spondyloepiphyseal dysplasia, Cantu type
- Spondyloepiphyseal dysplasia, Kimberley type
- Spondyloepiphyseal dysplasia, MacDermot type
- Spondyloepiphyseal dysplasia, Nishimura type
- Spondyloepiphyseal dysplasia, Reardon type
- Spondyloepiphyseal dysplasia, Stanescu type
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome
- Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome
- Spondyloepiphyseal dysplasia-nephrotic syndrome
- Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome
- Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
- Spondylometaphyseal dysplasia
- Spondylometaphyseal dysplasia with enchondromatous changes
- Spondylometaphyseal dysplasia with severe genu valgum
- Spondylometaphyseal dysplasia, 'corner fracture' type
- Spondylometaphyseal dysplasia, A4 type
- Spondylometaphyseal dysplasia, Algerian type
- Spondylometaphyseal dysplasia, Golden type
- Spondylometaphyseal dysplasia, Kozlowski type
- Spondylometaphyseal dysplasia, Schmidt type
- Spondylometaphyseal dysplasia, Sedaghatian type
- Spondylometaphyseal dysplasia, Sedaghatian-like type
- Spondylometaphyseal dysplasia, Sutcliffe type
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome
- Spondyloperipheral dysplasia-short ulna syndrome
- Spongy degeneration of the brain
- Spongy myocardium
- Spontaneous cerebrospinal fluid leak
- Spontaneous intestinal perforation
- Spontaneous intracranial hypotension
- Spontaneous periodic hypothermia
- Sporadic adult-onset ataxia of unknown etiology
- Sporadic CJD
- Sporadic Creutzfeldt-Jakob disease
- Sporadic fatal insomnia
- Sporadic fetal brain disruption sequence
- Sporadic human prion disease
- Sporadic hyperekplexia
- Sporadic IBSN
- Sporadic inclusion body myositis
- Sporadic infantile bilateral striatal necrosis
- Sporadic infantile striatonigral degeneration
- Sporadic infantile striatonigral necrosis
- Sporadic olivopontocerebellar atrophy type 1
- Sporadic OPCA type 1
- Sporadic pheochromocytoma/secreting paraganglioma
- Sporadic porphyria cutanea tarda
- Sporotrichosis
- Spotted fever rickettsiae disease
- Spotted fever rickettsiosis
- SPPRS syndrome
- SPR deficiency
- Spranger-Wiedemann disease
- Sprengel deformity
- Spring catarrh
- Sprinz-Nelson syndrome
- SPS
- SPS
- SPSMA
- SPTCL
- Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
- Squamous cell carcinoma of gallblader and EBT
- Squamous cell carcinoma of head and neck
- Squamous cell carcinoma of liver and IBT
- Squamous cell carcinoma of liver and intrahepatic biliary tract
- Squamous cell carcinoma of oral cavity and lip
- Squamous cell carcinoma of pancreas
- Squamous cell carcinoma of the anal canal
- Squamous cell carcinoma of the cervix uteri
- Squamous cell carcinoma of the colon
- Squamous cell carcinoma of the corpus uteri
- Squamous cell carcinoma of the esophagus
- Squamous cell carcinoma of the hypopharynx
- Squamous cell carcinoma of the larynx
- Squamous cell carcinoma of the lip
- Squamous cell carcinoma of the nasal cavity and paranasal sinuses
- Squamous cell carcinoma of the nasal cavity and sinuses
- Squamous cell carcinoma of the nasopharynx
- Squamous cell carcinoma of the oral cavity
- Squamous cell carcinoma of the oropharynx
- Squamous cell carcinoma of the penis
- Squamous cell carcinoma of the rectum
- Squamous cell carcinoma of the small bowel
- Squamous cell carcinoma of the small intestine
- Squamous cell carcinoma of the stomach
- Squamous cell carcinoma of the vulva
- SRD5A3-CDG
- SREAT
- SRP
- SSADH deficiency
- SSD
- SSH
- SSM syndrome
- SSPE
- SSPS
- SSR4-CDG
- SSS
- SSSS
- St. Louis encephalitis
- ST3GAL3-CDG
- ST3GAL5-CDG
- STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
- Stanescu osteosclerosis
- Stapedo-vestibular ankylosis
- Stapes ankylosis with broad thumbs and toes
- Staphylococcal necrotizing pneumonia
- Staphylococcal scalded skin syndrome
- Staphylococcal scarlet fever
- Staphylococcal toxemia
- Staphylococcal toxic-shock syndrome
- Staphylococcal TSS
- STAR syndrome
- Stargardt 1
- Stargardt disease
- Stark-Kaeser syndrome
- Startle epilepsy
- STAT1 deficiency
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- STAT3-related early-onset multisystem autoimmune disease
- Static encephalopathy of childhood with neurodegeneration in adulthood
- Steatocystoma multiplex
- Steatocystoma multiplex-natal teeth syndrome
- STEC-HUS
- Steel syndrome
- Steele-Richardson-Olszewski disease
- Steinert disease
- Steinert myotonic dystrophy
- Steinfeld syndrome
- Stellate multiform amelanotic choroidopathy
- Stem cell leukemia/lymphoma
- Sterile multifocal osteomyelitis with periostitis and pustulosis
- Stern-Lubinsky-Durrie syndrome
- Sternal cleft
- Sternum bifidum
- Steroid 5-alpha-reductase 2 deficiency
- Steroid dehydrogenase deficiency-dental anomalies syndrome
- Steroid sulfatase deficiency
- Steroid-responsive encephalopathy associated with autoimmune thyroiditis
- Sterol 27-hydroxylase deficiency
- Sterol biosynthesis disorder
- Sterol C5-desaturase deficiency
- Sterol metabolism disorder
- Sterol metabolism disorder with epilepsy
- Sterol-C4-methyl oxidase deficiency
- Stevens-Johnson syndrome
- Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
- Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- Stevens-Johnson/TEN overlap syndrome
- Stevens-Johnson/toxic epidermal necrolysis overlap syndrome
- Stickler syndrome
- Stickler syndrome type 1
- Stickler syndrome type 2
- Stickler syndrome type 3
- Stickler syndrome, non-ocular type
- Stiff baby syndrome
- Stiff leg syndrome
- Stiff man spectrum disorder
- Stiff person spectrum disorder
- Stiff skin syndrome
- Still disease
- Stilling-Turk-Duane syndrome
- Stimmler syndrome
- STING-associated vasculopathy with onset in infancy
- Stoelinga-de Koomen-Davis syndrome
- Stoll-Alembik-Finck syndrome
- Stoll-Géraudel-Chauvin syndrome
- Stoll-Kieny-Dott syndrome
- Stomatin-deficient cryohydrocytosis
- Stomatocytic elliptocytosis
- Stomatodynia
- Stomatopyrosis
- Stone man syndrome
- Stormorken syndrome
- Stormorken-Sjaastad-Langslet syndrome
- Straddling and/or overriding mitral valve
- Straddling or overriding tricuspid valve
- Stratton-Garcia-Young syndrome
- Stratton-Parker syndrome
- Streeter dysplasia
- Streptobacillary rat-bite fever
- Streptococcal toxic-shock syndrome
- Streptococcal TSS
- Streptococcus pneumoniae-associated hemolytic uremic syndrome
- Stress cardiomyopathy
- Stress erythrocytosis
- Stress polycythemia
- Striate palmoplantar keratoderma
- Stromal corneal dystrophy
- Stromal sarcoma of the corpus uteri
- Stromme syndrome
- Strongyloidiasis
- Structural developmental eye defect
- Structural developmental eye defect of genetic origin
- Structural heart defects-renal anomalies syndrome
- Strümpell disease
- Strümpell-Lorrain disease
- STT3A-CDG
- STT3B-CDG
- Stuart-Prower factor deficiency
- Sturge-Weber syndrome
- Sturge-Weber-Dimitri syndrome
- Sturge-Weber-Krabbe angiomatosis
- Sturge-Weber-Krabbe syndrome
- STWS
- Stx-HUS
- STXBP1-related encephalopathy
- Stüve-Wiedemann dysplasia
- Stüve-Wiedemann syndrome
- Stüve-Wiedemann syndrome type 1
- Stüve-Wiedemann syndrome type 2
- Suarez-Stickler syndrome
- Sub-cortical nodular heterotopia
- Subacute angiohypertrophic myelomalacia
- Subacute ascending necrotizing myelitis
- Subacute cerebellar degeneration
- Subacute cutaneous lupus erythematosus
- Subacute inclusion body encephalitis
- Subacute inflammatory demyelinating polyneuropathy
- Subacute inflammatory demyelinating polyradiculoneuropathy
- Subacute juvenile Tay-Sachs disease
- Subacute myeloid leukemia
- Subacute necrotizing myelitis
- Subacute sclerosing leukoencephalitis
- Subacute sclerosing panencephalitis
- Subacute spongiform encephalopathy, Gerstmann-Straussler type
- Subaortic course of brachiocephalic vein
- Subaortic course of innominate vein
- Subaortic stenosis-short stature syndrome
- Subcorneal pustular dermatitis
- Subcorneal pustular dermatosis
- Subcortical band heterotopia
- Subcortical gliosis of Neumann
- Subcortical laminar heterotopia
- Subcutaneous panniculitic T-cell lymphoma
- Subcutaneous panniculitis-like T-cell lymphoma
- Subcutaneous spherulocystic disease
- Subcutaneous tissue disease
- Subependymal giant cell astrocytoma
- Subependymal nodular heterotopia
- Subependymoma
- Subepithelial amyloidosis of the cornea
- Subepithelial mucinous corneal dystrophy
- Submucosal cleft palate
- Subpulmonary stenosis
- Subtelomeric 1p36 deletion
- Subtelomeric deletion 13q34
- Subtotal absence of cerebellum
- Subtotal septate uterus
- Succinic semialdehyde dehydrogenase deficiency
- Succinyl-CoA acetoacetate transferase deficiency
- Succinyl-CoA:3-ketoacid CoA transferase deficiency
- Succinyl-CoA:3-oxoacid CoA transferase deficiency
- Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
- Sudden infant death-dysgenesis of the testes syndrome
- Sudden sensorineural hearing loss
- SUFE
- Sugarman brachydactyly
- Sugarman-Hager-Kulik syndrome
- Sujansky-Leonard syndrome
- Sulfation-related bone disorder
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
- Sulfocysteinuria
- Summerskill-Walshe-Tygstrup syndrome
- Summertime actinic lichenoid eruption
- SUNCT syndrome
- Superficial corneal dystrophy
- Superficial epidermolytic ichthyosis
- Superficial fibromatosis
- Superficial granular corneal dystrophy
- Superficial hemosiderosis of the central nervous system
- Superficial hemosiderosis of the CNS
- Superficial lymphangioma
- Superficial lymphatic malformation
- Superficial pemphigus
- Superficial siderosis
- Superficial siderosis of the central nervous system
- Superficial siderosis of the CNS
- Superior limbic keratoconjunctivitis
- Superior mesenteric artery syndrome
- Superior palpebral coloboma
- Supernumerary breasts
- Supernumerary der(22) syndrome
- Supernumerary nostril
- Supernumerary phalanx
- Superoinferior ventricles
- Suppurative myositis
- Supranuclear eye movement disorder
- Supratentorial C11ORF95-RELA fused ependymoma
- Supratip dysplasia
- Supravalvular aortic stenosis
- Supravalvular pulmonary stenosis
- SURF1-related Charcot-Marie-Tooth disease type 4
- SURF1-related CMT4
- SURF1-related severe demyelinating Charcot-Marie-Tooth disease
- Susac syndrome
- Susceptibility to infection due to TYK2 deficiency
- Susceptibility to localized juvenile periodontitis
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
- SUZ12-related overgrowth syndrome
- SVA
- SVAS
- SVCA
- Sveinsson chorioretinal atrophy
- Sweet syndrome
- Swift disease
- Swift-Feer disease
- SWS
- SWS
- Swyer syndrome
- Sydenham chorea
- Symbrachydactyly of hands and feet
- Symmetric parietal foramina
- Symmetrical thalamic calcifications
- Sympathetic ophthalmia
- Sympathetic uveitis
- Symphalangism with multiple anomalies of hands and feet
- Symphalangism, Cushing type
- Symphalangism-brachydactyly syndrome
- Symptomatic form of classic hemochromatosis
- Symptomatic form of Coffin-Lowry syndrome in female carriers
- Symptomatic form of hemochromatosis type 1
- Symptomatic form of HFE-related hemochromatosis
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
- Symptomatic form of X-linked centronuclear myopathy in female carriers
- Symptomatic form of X-linked myotubular myopathy in female carriers
- Symptomatic form of XLCNM in female carriers
- Symptomatic form of XLMTM in female carriers
- Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome
- Synaptic congenital myasthenic syndromes
- Syndactyly of fingers 4 and 5
- Syndactyly type 1
- Syndactyly type 1, Castilla type
- Syndactyly type 1, Lueken type
- Syndactyly type 1, Montagu type
- Syndactyly type 1, Weidenreich type
- Syndactyly type 1a
- Syndactyly type 1b
- Syndactyly type 1c
- Syndactyly type 1d
- Syndactyly type 2
- Syndactyly type 3
- Syndactyly type 4
- Syndactyly type 5
- Syndactyly type 6
- Syndactyly type 7
- Syndactyly type 8
- Syndactyly type 9
- Syndactyly, Malik-Percin type
- Syndactyly, mitten type
- Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
- Syndactyly-ectodermal dysplasia-cleft/lip palate
- Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
- Syndactyly-nystagmus syndrome due to dup(2)(q31.1)
- Syndactyly-nystagmus syndrome due to trisomy 2q31.1
- Syndactyly-polydactyly-ear lobe syndrome
- Syndactyly-preaxial polydactyly-sternal deformity syndrome
- Syndactyly-telecanthus-anogenital and renal malformations syndrome
- Syndome with combined immunodeficiency due to thymic defect
- Syndrome associated with dilated cardiomyopathy
- Syndrome associated with hypertrophic cardiomyopathy
- Syndrome d'hypercroissance associé à EZH2
- Syndrome de Volkmann congénital
- Syndrome of ocular and facial anomalies, telecanthus and deafness
- Syndrome of ocular and facial anomalies, telecanthus and hearing loss
- Syndrome of reduced sensitivity to thyroid hormone
- Syndrome or malformation associated with head and neck malformations
- Syndrome r(4)
- Syndrome with 46,XX difference of sex development
- Syndrome with 46,XX disorder of sex development
- Syndrome with 46,XX DSD
- Syndrome with 46,XY difference of sex development
- Syndrome with 46,XY disorder of sex development
- Syndrome with 46,XY DSD
- Syndrome with a central nervous system malformation as a major feature
- Syndrome with a cerebellar malformation as a major feature
- Syndrome with a Dandy-Walker malformation as a major feature
- Syndrome with a symptomatic strabismus
- Syndrome with alpha-thalassemia as a major feature
- Syndrome with combined immunodeficiency
- Syndrome with congenital functional defect of phagocyte as a major feature
- Syndrome with congenital neutropenia as a major feature
- Syndrome with congenital phagocyte functional defect as a major feature
- Syndrome with constitutional functional phagocyte defect as a major feature
- Syndrome with constitutional neutropenia as a major feature
- Syndrome with corpus callosum agenesis/dysgenesis as a major feature
- Syndrome with difference of sex development of gynecological interest
- Syndrome with disorder of sex development of gynecological interest
- Syndrome with DSD of gynecological interest
- Syndrome with genetic neutropenia as a major feature
- Syndrome with hypoparathyroidism
- Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
- Syndrome with limb malformations as a major feature
- Syndrome with limb reduction defects
- Syndrome with microcephaly as a major feature
- Syndrome with pulmonary hypertension as a major feature
- Syndrome with synostosis or other joint formation defect
- Syndrome with woolly hair
- Syndromic agammaglobulinemia
- Syndromic agammaglobulinemia due to FNIP1 deficiency
- Syndromic agammaglobulinemia due to ZIP7 deficiency
- Syndromic aniridia
- Syndromic ankyloblepharon
- Syndromic ankyloblepharon filiforme adnatum
- Syndromic anorectal malformation
- Syndromic autoimmune enteropathy
- Syndromic bile duct paucity
- Syndromic bile duct paucity due to a JAG1 point mutation
- Syndromic bile duct paucity due to a NOTCH2 point mutation
- Syndromic bile duct paucity due to monosomy 20p12
- Syndromic biliary atresia
- Syndromic breast hypoplasia/aplasia
- Syndromic cataract
- Syndromic chorioretinal dystrophy
- Syndromic congenital sodium diarrhea
- Syndromic congenital tufting enteropathy
- Syndromic constitutional thrombocytopenia
- Syndromic corneal dystrophy
- Syndromic craniosynostosis
- Syndromic diaphragmatic or abdominal wall malformation
- Syndromic diaphragmatic or thoracic malformation
- Syndromic diarrhea
- Syndromic diarrhea/Tricho-hepato-enteric syndrome
- Syndromic disorder with strabismus
- Syndromic ectopia lentis
- Syndromic epicanthus
- Syndromic esophageal malformation
- Syndromic eyelid coloboma
- Syndromic gastroduodenal malformation
- Syndromic genetic cataract
- Syndromic genetic deafness
- Syndromic genetic disorder with strabismus
- Syndromic genetic ectopia lentis
- Syndromic genetic hearing loss
- Syndromic genetic keratoconus
- Syndromic hair shaft abnormality
- Syndromic hereditary optic neuropathy
- Syndromic hyperopia
- Syndromic hypogammaglobulinemia due to FNIP1 deficiency
- Syndromic hypothyroidism
- Syndromic inherited retinal disorder
- Syndromic intestinal malformation
- Syndromic keratoconus
- Syndromic lacrimal system disorder
- Syndromic macular dystrophy
- Syndromic microphthalmia
- Syndromic microphthalmia type 10
- Syndromic microphthalmia type 3
- Syndromic microphthalmia type 4
- Syndromic microphthalmia type 5
- Syndromic microphthalmia type 6
- Syndromic microphthalmia type 7
- Syndromic microphthalmia type 8
- Syndromic microphthalmia-anophthalmia-coloboma
- Syndromic microphthalmia/anophthalmia due to OTX2 mutation
- Syndromic microspherophakia
- Syndromic multisystem autoimmune disease due to Itch deficiency
- Syndromic nail anomaly
- Syndromic obesity
- Syndromic oculocutaneous albinism
- Syndromic optic nerve hypoplasia
- Syndromic orbital border hypoplasia
- Syndromic outer canthal malposition
- Syndromic palpebral coloboma
- Syndromic recessive X-linked ichthyosis
- Syndromic renal or urinary tract malformation
- Syndromic respiratory or mediastinal malformation
- Syndromic retinal dystrophy
- Syndromic retinitis pigmentosa
- Syndromic rod-cone dystrophy
- Syndromic RXLI
- Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
- Syndromic sensorineural deafness due to COXPD
- Syndromic sensorineural hearing loss due to COXPD
- Syndromic telecanthus
- Syndromic urogenital tract malformation
- Syndromic uterovaginal malformation
- Syndromic visceral malformation
- Syndromic vitreoretinopathy
- Syndromic X-linked intellectual disability 7
- Syndromic X-linked intellectual disability type 10
- Syndromic X-linked intellectual disability type 11
- SYNE1-related AMC
- SYNE1-related arthrogryposis multiplex congenita
- SYNGAP1-related DEE
- SYNGAP1-related developmental and epileptic encephalopathy
- Syngnathia-cleft palate syndrome
- Syngnathia-multiple anomalies syndrome
- Synovial sarcoma
- Synovialosarcoma
- Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
- Synpolydactyly
- Synpolydactyly type 1
- Synpolydactyly type 2
- Synpolydactyly type 3
- Synpolydactyly, Debeer type
- Synpolydactyly, Malik type
- Synpolydactyly, Vordingborg type
- Synspondylism
- Syntelencephaly
- Syringadenoma papilliferum
- Syringocystadenoma papilliferum
- Syringomyelia
- SYS
- Systemic AL amyloidosis
- Systemic autoimmune disease
- Systemic candidiasis
- Systemic capillary leak syndrome
- Systemic disease with glomerulopathy as a major feature
- Systemic disease with skin involvement
- Systemic diseases with anterior uveitis
- Systemic diseases with panuveitis
- Systemic diseases with posterior uveitis
- Systemic EBV+ T-cell LPD of childhood
- Systemic EBV-positive T-cell lymphoproliferative disease of childhood
- Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
- Systemic inflammatory disease associated with an acquired peripheral neuropathy
- Systemic karyomegaly
- Systemic lupus erythematosus
- Systemic mastocytosis
- Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
- Systemic mastocytosis with associated hematologic neoplasm
- Systemic monochloroacetate poisoning
- Systemic PAN
- Systemic periarteritis nodosa
- Systemic polyarteritis nodosa
- Systemic primary carnitine deficiency
- Systemic scleroderma
- Systemic sclerosis
- Systemic sclerosis sine scleroderma
- Systemic vasculitis
- Systemic vasculitis associated with glomerulopathy
- Systemic-onset JIA
- Systemic-onset juvenile idiopathic arthritis
- SYT1-related neurodevelopmental disorder
- Sézary lymphoma
- Sézary syndrome