FANDOM


Saal-Greenstein syndrome [↗]
Saccharopine dehydrogenase deficiency [↗]
Saccharopinuria [↗]
Sack-Barabas syndrome [↗]
Sacral agenesis syndrome [↗]
Sacral hemangiomas - multiple congenital abnormalities [↗]
Sacral meningocele - conotroncal heart defects [↗]
Sacral regression syndrome [↗]
Sacrococcygeal dysgenesis association [↗]
SADDAN [↗]
Saethre-Chotzen syndrome [↗]
Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis [↗]
Saguenay-Lac-St. Jean cytochrome oxidase deficiency [↗]
Saito-Kuba-Tsuruta syndrome [↗]
Sakati-Nyhan syndrome [↗]
Sakati-Nyhan-Tisdale syndrome [↗]
Sakati syndrome [↗]
Salamon syndrome [↗]
Salcedo syndrome [↗]
Saldino-Mainzer syndrome [↗]
Salivary gland type cancer of the breast [↗]
Salivary gland type carcinoma of the breast [↗]
Salla disease [↗]
Salmonellosis [↗]
Salti-Salem syndrome [↗]
SAMS 1-31 [↗]
Sandhoff disease [↗]
Sandifer syndrome [↗]
SANDO [↗]
Sandrow syndrome [↗]
Sanfilippo disease [↗]
Sanfilippo syndrome type A [↗]
Sanfilippo syndrome type B [↗]
Sanfilippo syndrome type C [↗]
Sanfilippo syndrome type D [↗]
Sanjad-Sakati syndrome [↗]
San Joaquin valley fever [↗]
San Luis Valley syndrome [↗]
Santavuori disease [↗]
Santavuori disease [↗]
Santavuori-Haltia disease [↗]
Santos-Mateus-Leal syndrome [↗]
SAOA [↗]
SAPHO syndrome [↗]
Sarcocystosis [↗]
Sarcoidosis [↗]
Sarcosine dehydrogenase complex deficiency [↗]
Sarcosinemia [↗]
Sarcosporidiosis [↗]
SARS [↗]
SARS-associated corona virus [↗]
SARS-CoV [↗]
Satoyoshi syndrome [↗]
Say-Barber-Hobbs syndrome [↗]
Say-Barber-Miller syndrome [↗]
Say-Field-Coldwell syndrome [↗]
Say-Meyer syndrome [↗]
SBCAD deficiency [↗]
SBMA [↗]
SCA1 [↗]
SCA10 [↗]
SCA11 [↗]
SCA12 [↗]
SCA13 [↗]
SCA14 [↗]
SCA15 [↗]
SCA16 [↗]
SCA17 [↗]
SCA18 [↗]
SCA19 [↗]
SCA2 [↗]
SCA20 [↗]
SCA21 [↗]
SCA22 [↗]
SCA23 [↗]
SCA25 [↗]
SCA26 [↗]
SCA27 [↗]
SCA28 [↗]
SCA29 [↗]
SCA3 [↗]
SCA30 [↗]
SCA31 [↗]
SCA32 [↗]
SCA35 [↗]
SCA36 [↗]
SCA4 [↗]
SCA5 [↗]
SCA6 [↗]
SCA7 [↗]
SCA8 [↗]
SCAD deficiency [↗]
SCAE [↗]
Scalp defects - postaxial polydactyly [↗]
Scalp-ear-nipple syndrome [↗]
SCAN1 [↗]
SCAN 2 [↗]
Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit [↗]
Scapuloiliac dysostosis [↗]
Scapuloperoneal amyotrophy [↗]
SCAR1 [↗]
SCARF syndrome [↗]
Scarring in glaucoma filtration surgical procedures [↗]
SCASI [↗]
SCAX1 [↗]
SCD [↗]
Schaap-Taylor-Baraitser syndrome [↗]
SCHAD deficiency [↗]
Scheie syndrome [↗]
Schilbach-Rott syndrome [↗]
Schilder disease [↗]
Schilder's disease [↗]
Schimke immuno-osseous dysplasia [↗]
Schimke syndrome [↗]
Schimmelpenning syndrome [↗]
Schindler disease type 1 [↗]
Schindler disease type 2 [↗]
Schindler disease type 3 [↗]
Schinzel-Giedion syndrome [↗]
Schinzel syndrome [↗]
Schisis association [↗]
Schistosomiasis [↗]
Schizencephaly [↗]
Schizophrenia - intellectual deficit - deafness - retinitis [↗]
Schmidt syndrome [↗]
Schmitt-Gillenwater-Kelly syndrome [↗]
Schneckenbecken dysplasia [↗]
Schnitzler syndrome [↗]
Schnyder's crystalline corneal dystrophy [↗]
Schofer-Beetz-Bohl syndrome [↗]
Scholte-Begeer-van Essen syndrome [↗]
Schopf-Schulz-Passarge syndrome [↗]
Schwannomatosis [↗]
Schwannome vestibulaire [↗]
Schwartz-Jampel-Aberfeld syndrome [↗]
Schwartz-Jampel syndrome [↗]
Schwartz-Jampel syndrome type 1 [↗]
SCID [↗]
SCID, alymphocytotic type [↗]
SCID, Athabaskan type [↗]
SCID due to CORO1A deficiency [↗]
SCID due to coronin-1A deficiency [↗]
SCID due to DOCK8 deficiency [↗]
SCID due to LCK deficiency [↗]
SCID due to lymphocyte-specific protein tyrosine kinase deficiency [↗]
SCID T+ B+ due to partial RAG1 deficiency [↗]
SCIDX1 [↗]
Scimitar syndrome [↗]
SCLC [↗]
Scleroatonic muscular dystrophy [↗]
Scleroatrophic syndrome [↗]
Scleroderma [↗]
Scleromyxedema [↗]
Scleromyxedema without monoclonal gammopathy [↗]
Sclerosing dysplasia of bone - ichthyosis - premature ovarian failure [↗]
Sclerosing mediastinitis [↗]
Sclerosing mesenteritis [↗]
Sclerosing perineurioma [↗]
Sclerosteosis [↗]
SCOT deficiency [↗]
Scott-Bryant-Graham syndrome [↗]
Scott craniodigital syndrome [↗]
Scott syndrome [↗]
Scott-Taor syndrome [↗]
SC phocomelia [↗]
SC pseudothalidomide syndrome [↗]
SCRA [↗]
Scrotal or penoscrotal hypospadias [↗]
Scrub typhus [↗]
SD3 [↗]
SD5 [↗]
SDHx-related paraganglioma-pheochromocytoma [↗]
SDS [↗]
SDYS [↗]
Sea-blue histiocytosis [↗]
Seaver-Cassidy syndrome [↗]
Sebastian syndrome [↗]
Sebocystomatosis [↗]
Seborrhea-like dermatitis with psoriasiform elements [↗]
Seckel syndrome [↗]
Secondary acute transverse myelitis [↗]
Secondary amyloidosis [↗]
Secondary ciliary dyskinesia [↗]
Secondary intestinal lymphangiectasia [↗]
Secondary non-tropical sprue [↗]
Secondary pulmonary hemosiderosis [↗]
Secondary retention of permanent molars [↗]
Secondary short bowel syndrome [↗]
Secondary syringomyelia [↗]
Second branchial cleft anomaly [↗]
Second branchial cleft cyst [↗]
Second branchial cleft fistula [↗]
SED-BDS [↗]
SEDC [↗]
Sedlackova syndrome [↗]
Seemanova-Lesny syndrome [↗]
Seemanova syndrome type 2 [↗]
SEGA [↗]
Segawa syndrome [↗]
Seghers syndrome [↗]
Segmental odontomaxillary dysplasia [↗]
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus [↗]
Segmental vertebral anomalies [↗]
SEI [↗]
Seitelberger disease [↗]
Seizures - intellectual deficit due to hydroxylysinuria [↗]
Seizures - sensorineural deafness - ataxia - intellectual deficit - electrolyte imbalance [↗]
Selective cobalamin malabsorption with proteinuria [↗]
Selective IgG subclass deficiency [↗]
Selective pituitary resistance to thyroid hormone [↗]
Self-healing collodion baby [↗]
Self-healing papular mucinosis [↗]
Self-healing squamous epithelioma type 1 [↗]
Selig-Benacerraf-Greene syndrome [↗]
Sellars-Beighton syndrome [↗]
Semantic dementia [↗]
Semantic primary progressive aphasia [↗]
Semantic variant PPA [↗]
SEMD, aggrecan type [↗]
SEMD, Irapa type [↗]
SEMDJL [↗]
SEMD, MATN3-related [↗]
SEMD, matrilin-3 type [↗]
SEMD-MD [↗]
SEMD, Missouri type [↗]
SEMD, Shohat type [↗]
SEMD type 2 [↗]
SEMD type Irapa [↗]
Semilobar holoprosencephaly [↗]
Senear-Usher syndrome [↗]
Sengers-Hamel-Otten syndrome [↗]
Sengers syndrome [↗]
Senior-Boichis syndrome [↗]
Senior-Loken syndrome [↗]
Senior syndrome [↗]
Sensenbrenner syndrome [↗]
Sensorineural deafness with dilated cardiomyopathy [↗]
Sensorineural hearing loss - early greying - essential tremor [↗]
Sensorineural hearing loss - pontobulbar palsy [↗]
Sensorineural hearing loss with dilated cardiomyopathy [↗]
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis [↗]
Sensory neuropathy - spastic paraplegia [↗]
Senter syndrome [↗]
Sepsis in premature infants [↗]
Sepsis postanginal of Lemierre [↗]
Septate vagina [↗]
Septic phlebitis of the internal jugular vein [↗]
Septo-optic dysplasia [↗]
Septooptic dysplasia - digital anomalies [↗]
Septo-optic dysplasia spectrum [↗]
Septopreoptic holoprosencephaly [↗]
Septopreoptic HPE [↗]
Serine deficiency [↗]
SERKAL syndrome [↗]
Serotonergic syndrome [↗]
Serotonin storm [↗]
Serotonin syndrome [↗]
Serotonin toxicity [↗]
Serotonin toxidrome [↗]
Serous or mucinous cystadenoma of childhood [↗]
Serous surface papillary carcinoma [↗]
Serpentine fibula - polycystic kidneys [↗]
Serpiginous choroiditis [↗]
Servelle-Martorell syndrome [↗]
SeSAME syndrome [↗]
Setleis syndrome [↗]
Severe achondroplasia - developmental delay - acanthosis nigricans [↗]
Severe acute respiratory syndrome [↗]
Severe closed traumatic brain injury [↗]
Severe combined immunodeficiency [↗]
Severe combined immunodeficiency, alymphocytotic type [↗]
Severe combined immunodeficiency, Athabaskan type [↗]
Severe combined immunodeficiency due to adenosine deaminase deficiency [↗]
Severe combined immunodeficiency due to CORO1A deficiency [↗]
Severe combined immunodeficiency due to coronin-1A deficiency [↗]
Severe combined immunodeficiency due to CRAC channel dysfunction [↗]
Severe combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency [↗]
Severe combined immunodeficiency due to DOCK8 deficiency [↗]
Severe combined immunodeficiency due to LCK deficiency [↗]
Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency [↗]
Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation [↗]
Severe combined immunodeficiency T- B+ due to CD3delta/CD3epsilon/CD3zeta [↗]
Severe combined immunodeficiency T- B+ due to CD45 deficiency [↗]
Severe combined immunodeficiency T- B+ due to gamma chain deficiency [↗]
Severe combined immunodeficiency T- B+ due to IL-7Ralpha deficiency [↗]
Severe combined immunodeficiency T- B+ due to JAK3 deficiency [↗]
Severe combined immunodeficiency T+ B+ due to partial RAG1 deficiency [↗]
Severe combined immunodeficiency T- B+, X-linked [↗]
Severe combined immunodeficiency with hypereosinophilia [↗]
Severe combined immunodeficiency with leukopenia [↗]
Severe congenital encephalopathy due to MECP2 mutation [↗]
Severe congenital nemaline myopathy [↗]
Severe congenital neutropenia [↗]
Severe dilated cardiomyopathy due to lamin A/C mutation [↗]
Severe dilated cardiomyopathy with or without myopathy [↗]
Severe dystrophinopathy, Duchenne and Becker type [↗]
Severe dystrophinopathy, Duchenne type [↗]
Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency [↗]
Severe early-onset axonal neuropathy due to NEFL deficiency [↗]
Severe factor IX deficiency [↗]
Severe factor VIII deficiency [↗]
Severe familial hypospadias [↗]
Severe Hallermann-Streiff-François syndrome [↗]
Severe hemophilia A [↗]
Severe hemophilia B [↗]
Severe hypospadias [↗]
Severe immune-mediated enteropathy [↗]
Severe intellectual deficit and progressive spastic paraplegia [↗]
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia [↗]
Severe limb deficit [↗]
Severe lipodystrophic laminopathy [↗]
Severe myoclonic epilepsy of infancy [↗]
Severe neonatal-onset encephalopathy with microcephaly [↗]
severe PMD [↗]
Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy [↗]
Severe X-linked intellectual deficit, Gustavson type [↗]
Severe X-linked mitochondrial encephalomyopathy [↗]
Sex reversion - kidneys, adrenal and lung dysgenesis [↗]
Sezary's lymphoma [↗]
Sezary's syndrome [↗]
SGBS [↗]
SGBS1 [↗]
SGBS2 [↗]
SGLT1 deficiency [↗]
SGLT2 deficiency [↗]
SGS [↗]
Shah-Waardenburg syndrome [↗]
Shapiro syndrome [↗]
Sharma-Kapoor-Ramji syndrome [↗]
Sharp syndrome [↗]
SHCB [↗]
Sheehan syndrome [↗]
Sheldon-Hall syndrome [↗]
SHFLD syndrome [↗]
SHFM [↗]
SHFM associated with aplasia of long bones [↗]
Shiga-like toxin-associated HUS [↗]
Shigellosis [↗]
SHML [↗]
Shokeir syndrome [↗]
Shone complex [↗]
Short arm of chromosome 18 duplication [↗]
Short arm of chromosome 18 trisomy [↗]
Short arm of chromosome 4 trisomy [↗]
Short arm of chromosome 5 trisomy [↗]
Short arm of chromosome 9 duplication [↗]
Short arm of chromosome 9 trisomy [↗]
Short bowel syndrome due to necrotizing enterocolitis [↗]
Short bowel syndrome due to surgical resection [↗]
Short bowel syndrome due to thrombosis [↗]
Short bowel syndrome due to total or sub-total aganglionosis [↗]
Short bowel syndrome due to trauma [↗]
Short bowel syndrome due to volvulus [↗]
Short/branched-chain acyl-coA dehydrogenase deficiency [↗]
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [↗]
Short chain Acyl-CoA dehydrogenase deficiency [↗]
Short fifth metacarpals - insulin resistance [↗]
Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing [↗]
Short limb-dwarf lethal, McAlister-Crane type [↗]
Short rib-polydactyly syndrome [↗]
Short rib-polydactyly syndrome, Beemer-Langer type [↗]
Short rib-polydactyly syndrome, Majewski type [↗]
Short rib-polydactyly syndrome, Saldino-Noonan type [↗]
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, Verma-Naumoff type [↗]
Short stature, Brussels type [↗]
Short stature - contractures - hypotonia [↗]
Short stature - craniofacial anomalies - genital hypoplasia [↗]
Short stature - deafness - neutrophil dysfunction - dysmorphism [↗]
Short stature-delayed bone age due to thyroid hormone metabolism deficiency [↗]
Short stature due to growth hormone qualitative anomaly [↗]
Short stature due to growth hormone resistance [↗]
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia [↗]
Short stature due to primary acid-labile subunit deficiency [↗]
Short stature due to STAT5b deficiency [↗]
Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia [↗]
Short stature - heart defect - craniofacial anomalies [↗]
Short stature - hyperkaliemia - acidosis [↗]
Short stature - intellectual deficit - eye anomalies - cleft lip/palate [↗]
Short stature - intellectual deficit - eye defects - absent patella [↗]
Short stature - locking fingers [↗]
Short stature - microcephaly - heart defect [↗]
Short stature of unknown aetiology [↗]
Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot [↗]
Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot [↗]
Short stature - pituitary and cerebellar defects - small sella turcica [↗]
Short stature - prognathism - short femoral necks [↗]
Short stature - valvular heart disease - characteristic facies [↗]
Short stature - webbed neck - heart disease [↗]
Short stature - wormian bones - dextrocardia [↗]
SHORT syndrome [↗]
Short tarsus - absence of lower eyelashes [↗]
Short tendo calcaneus [↗]
Shoulder and girdle defects - familial intellectual deficit [↗]
Shoulder and thorax deformity - congenital heart disease [↗]
Shprintzen-Goldberg syndrome [↗]
Shprintzen syndrome [↗]
Shulman syndrome [↗]
Shwachman-Diamond syndrome [↗]
Shy-Drager syndrome [↗]
SIADH [↗]
Sialidosis type 1 [↗]
Sialidosis type 2 [↗]
Sialuria, French type [↗]
SIBIDS syndrome [↗]
Sickle cell anemia [↗]
Sickle cell - beta-thalassemia disease [↗]
Sickle cell disease [↗]
Sickle cell - hemoglobin C disease [↗]
Sickle cell - hemoglobin D disease [↗]
Sickle cell - hemoglobin E disease [↗]
Sickness of disembarkment [↗]
Sick sinus syndrome [↗]
SIDDT [↗]
Sideropenic dysphagia [↗]
Sidransky-Feinstein-Goodman syndrome [↗]
Siegler-Brewer-Carey syndrome [↗]
Siewert syndrome [↗]
Silent sinus syndrome [↗]
Sillence syndrome [↗]
Silver-Russell dwarfism [↗]
Silver-Russell syndrome [↗]
Silver-Russell syndrome due to 11p15 microduplication [↗]
Silver-Russell syndrome due to 7p11.2p13 microduplication [↗]
Silver-Russell syndrome due to 7p11.2-p13 microduplication [↗]
Silver-Russell syndrome due to dup(7)(p11.2p13) [↗]
Silver-Russell syndrome due to imprinting defect of 11p15 [↗]
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 7p11.2p13 [↗]
Silver-Russell syndrome due to trisomy 7p11.2-p13 [↗]
Silver staining [↗]
Silver Syndrome [↗]
Simosa-Penchaszadeh-Bustos syndrome [↗]
Simple cryoglobulinemia [↗]
Simpson dysmorphia syndrome [↗]
Simpson-Golabi-Behmel syndrome [↗]
Simpson-Golabi-Behmel syndrome type 1 [↗]
Simpson-Golabi-Behmel syndrome type 2 [↗]
Sinding-Larsen-Johansson disease [↗]
Singh-Chhaparwal-Dhanda syndrome [↗]
Singh-Williams-McAlister syndrome [↗]
Singleton-Merten dysplasia [↗]
Singleton-Merten syndrome [↗]
Single upper central incisor [↗]
Single ventricular septal defect [↗]
Sino-auricular heart block [↗]
Sinus histiocytosis with massive lymphadenopathy [↗]
Sinus node disease - myopia [↗]
Sinus node dysfunction [↗]
Sinusoidal obstruction syndrome [↗]
Sipple syndrome [↗]
Sipple syndrome type A [↗]
Sipple syndrome type B [↗]
Sirenomelia [↗]
Sitosterolemia [↗]
Situs ambiguous [↗]
Situs ambiguus [↗]
Situs inversus [↗]
Situs inversus totalis [↗]
Sjögren-Larsson syndrome [↗]
SJS [↗]
SJS1 [↗]
SJS-TEN [↗]
Skeletal dysplasia - brachydactyly [↗]
Skeletal dysplasia - epilepsy - short stature [↗]
Skeletal dysplasia, Greenberg type [↗]
Skeletal dysplasia - intellectual deficit [↗]
Skeletal dysplasia, Jequier-kozlowski type [↗]
Skeletal dysplasia - orofacial anomalies [↗]
Skeletal dysplasia, San Diego type [↗]
Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality [↗]
Skin infectious botulism [↗]
Skin toxin-mediated botulism [↗]
Sleeping seekness [↗]
SLE, pediatric onset [↗]
SLK [↗]
SLOS [↗]
SLSJ-COX deficiency [↗]
Sly disease [↗]
SMA [↗]
SMA1 [↗]
SMA2 [↗]
SMA3 [↗]
SMA4 [↗]
SMA-I [↗]
SMA-II [↗]
SMA-III [↗]
SMA-IV [↗]
Small bowel adenocarcinoma [↗]
Small bowel leiomyosarcoma [↗]
Small cell lung cancer [↗]
Small non-cleaved cell lymphoma [↗]
Small patella syndrome [↗]
SMARD [↗]
SMAX2 [↗]
SMD-CRD [↗]
SMEI [↗]
Smith-Fineman-Myers syndrome [↗]
Smith-Lemli-Opitz syndrome [↗]
Smith-Magenis syndrome [↗]
Smith-McCort dysplasia [↗]
SMMCI [↗]
Sneddon syndrome [↗]
Sneddon-Wilkinson disease [↗]
Snowflake vitreoretinal degeneration [↗]
Snyder-Robinson syndrome [↗]
SOD [↗]
SOD [↗]
Sodoku [↗]
Soft tissu perineurioma [↗]
Sohval-Soffer syndrome [↗]
SOLAMEN syndrome [↗]
Solar urticaria [↗]
Solitary bone cyst [↗]
Solitary mastocytoma [↗]
Solitary median maxillary central incisor syndrome [↗]
Solitary necrotic tumor of the liver [↗]
Solitary plasmacytoma [↗]
Solitary rectal ulcer syndrome [↗]
Solomon syndrome [↗]
Somatostatinoma [↗]
Sommer-Hines syndrome [↗]
Sommer-Rathbun-Battles syndrome [↗]
Sommer-Young-Wee-Frye syndrome [↗]
Sondheimer syndrome [↗]
Sonoda syndrome [↗]
Sorsby's fundus dystrophy [↗]
Sorsby syndrome [↗]
Sotos syndrome [↗]
Southeast asian ovalocytosis [↗]
Sparse hair - short stature - skin anomalies [↗]
Spasmodic dysphonia [↗]
Spasmodic torticollis [↗]
Spasmus nutans [↗]
Spastic ataxia, Charlevoix-Saguenay type [↗]
Spastic ataxia - corneal dystrophy [↗]
Spastic ataxia - ocular anomalies [↗]
Spastic ataxia with congenital miosis [↗]
Spastic diplegia, infantile type [↗]
Spastic gait type 2 [↗]
Spasticity - intellectual deficit - X-linked epilepsy [↗]
Spastic paraparesis [↗]
Spastic paraparesis - amyopathy - cataracts - gastroesophageal reflux [↗]
Spastic paraparesis - deafness [↗]
Spastic paraparesis - vitiligo - premature graying - characteristic facies [↗]
Spastic paraplegia-amyotrophy of hands and feet [↗]
Spastic paraplegia due to neuropathy target esterase mutation [↗]
Spastic paraplegia due to NTE mutation [↗]
Spastic paraplegia - epilepsy - intellectual deficit [↗]
Spastic paraplegia - facial-cutaneous lesions [↗]
Spastic paraplegia - glaucoma - intellectual deficit [↗]
Spastic paraplegia - intellectual deficit - thin corpus callosum [↗]
Spastic paraplegia - nephritis - deafness [↗]
Spastic paraplegia - neuropathy - poikiloderma [↗]
Spastic paraplegia - precocious puberty [↗]
Spastic paraplegia - retinal degeneration [↗]
Spastic paraplegia type 2 [↗]
Spastic quadriplegia - retinitis pigmentosa - intellectual deficit [↗]
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells [↗]
Speech and language disorder with orofacial dyspraxia [↗]
Speech-language disorder type 1 [↗]
Spellacy-Gibbs-Watts syndrome [↗]
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 [↗]
SPG37 [↗]
SPG38 [↗]
SPG39 [↗]
SPG3A [↗]
SPG4 [↗]
SPG42 [↗]
SPG5A [↗]
SPG6 [↗]
SPG7 [↗]
SPG8 [↗]
SPG9 [↗]
Spherocytic elliptocytosis [↗]
Spheroid body myopathy [↗]
Spherophakia - brachymorphia [↗]
Sphingomyelinase deficiency [↗]
Spielmeyer-Vogt disease [↗]
Spina bifida aperta [↗]
Spina bifida cystica [↗]
Spina bifida - hypospadias [↗]
Spinal and bulbar muscular atrophy [↗]
Spinal arteriovenous malformation [↗]
Spinal arteriovenous metameric syndrome [↗]
Spinal atrophy - ophthalmoplegia - pyramidal syndrome [↗]
Spinal cord injury [↗]
Spinal muscular atrophy, adult form [↗]
Spinal muscular atrophy - Dandy-Walker complex - cataracts [↗]
Spinal muscular atrophy with arthrogryposis [↗]
Spinal muscular atrophy with respiratory distress [↗]
Spindle cell hemangioendothelioma [↗]
Spindle cell hemangioma [↗]
Spinocerebellar ataxia - amyotrophy - deafness [↗]
Spinocerebellar ataxia - dysmorphism [↗]
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 [↗]
Spinocerebellar ataxia type 16 [↗]
Spinocerebellar ataxia type 17 [↗]
Spinocerebellar ataxia type 18 [↗]
Spinocerebellar ataxia type 19 [↗]
Spinocerebellar ataxia type 1 with axonal neuropathy [↗]
Spinocerebellar ataxia type 2 [↗]
Spinocerebellar ataxia type 20 [↗]
Spinocerebellar ataxia type 21 [↗]
Spinocerebellar ataxia type 22 [↗]
Spinocerebellar ataxia type 23 [↗]
Spinocerebellar ataxia type 25 [↗]
Spinocerebellar ataxia type 26 [↗]
Spinocerebellar ataxia type 27 [↗]
Spinocerebellar ataxia type 28 [↗]
Spinocerebellar ataxia type 29 [↗]
Spinocerebellar ataxia type 3 [↗]
Spinocerebellar ataxia type 30 [↗]
Spinocerebellar ataxia type 31 [↗]
Spinocerebellar ataxia type 32 [↗]
Spinocerebellar ataxia type 35 [↗]
Spinocerebellar ataxia type 36 [↗]
Spinocerebellar ataxia type 4 [↗]
Spinocerebellar ataxia type 5 [↗]
Spinocerebellar ataxia type 6 [↗]
Spinocerebellar ataxia type 8 [↗]
Spinocerebellar ataxia with axonal neuropathy type 2 [↗]
Spinocerebellar ataxia with epilepsy [↗]
Spinocerebellar degeneration - corneal dystrophy [↗]
Spirillary rat-bite fever [↗]
Spitzer-Weinstein syndrome [↗]
Splenic marginal zone lymphoma [↗]
Splenogonadal fusion - limb defects - micrognathia [↗]
Split foot deformity - mandibulofacial dysostosis [↗]
Split hand foot malformation [↗]
Split-hand/foot malformation associated with aplasia of long bones [↗]
Split hand/foot malformation with long bone deficiency [↗]
Split hand - split foot [↗]
Split hand - split foot - deafness [↗]
Split hand/split foot - mandibular hypoplasia [↗]
Split hand/split foot - nystagmus [↗]
Split hand - urinary anomalies - spina bifida [↗]
Split notochord syndrome [↗]
SPONASTRIME dysplasia [↗]
Spondylocamptodactyly syndrome [↗]
Spondylocarpotarsal synostosis [↗]
Spondylocostal dysostosis - anal and genitourinary malformations [↗]
Spondyloenchondrodysplasia [↗]
Spondyloenchondromatosis [↗]
Spondyloepimetaphyseal dysplasia - abnormal dentition [↗]
Spondyloepimetaphyseal dysplasia, aggrecan type [↗]
Spondyloepimetaphyseal dysplasia, anauxetic type [↗]
Spondyloepimetaphyseal dysplasia, Bieganski type [↗]
Spondyloepimetaphyseal dysplasia congenita, Strudwick type [↗]
Spondyloepimetaphyseal dysplasia, Genevieve type [↗]
Spondyloepimetaphyseal dysplasia, Handigodu type [↗]
Spondyloepimetaphyseal dysplasia - hypotrichosis [↗]
Spondyloepimetaphyseal dysplasia, Irapa type [↗]
Spondyloepimetaphyseal dysplasia, matrilin-3 type [↗]
Spondyloepimetaphyseal dysplasia, Menger type [↗]
Spondyloepimetaphyseal dysplasia, Missouri type [↗]
Spondyloepimetaphyseal dysplasia, Pakistani type [↗]
Spondyloepimetaphyseal dysplasia, Shohat type [↗]
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification [↗]
Spondyloepimetaphyseal dysplasia type 2 [↗]
Spondyloepimetaphyseal dysplasia with joint laxity [↗]
Spondyloepimetaphyseal dysplasia with multiple dislocations [↗]
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type [↗]
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type [↗]
Spondyloepiphyseal dysplasia - brachydactyly - speech disorder [↗]
Spondyloepiphyseal dysplasia, Byers type [↗]
Spondyloepiphyseal dysplasia, Cantu type [↗]
Spondyloepiphyseal dysplasia congenita [↗]
Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - intellectual deficit [↗]
Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - mental retardation [↗]
Spondyloepiphyseal dysplasia, Kimberley type [↗]
Spondyloepiphyseal dysplasia, MacDermot type [↗]
Spondyloepiphyseal dysplasia, Maroteaux type [↗]
Spondyloepiphyseal dysplasia - myopia - sensorineural deafness [↗]
Spondyloepiphyseal dysplasia - nephrotic syndrome [↗]
Spondyloepiphyseal dysplasia, Nishimura type [↗]
Spondyloepiphyseal dysplasia, Omani type [↗]
Spondyloepiphyseal dysplasia - punctate corneal dystrophy [↗]
Spondyloepiphyseal dysplasia, Reardon type [↗]
Spondyloepiphyseal dysplasia tarda [↗]
Spondyloepiphyseal dysplasia tarda, Kohn type [↗]
Spondyloepiphyseal dysplasia tarda - progressive arthropathy [↗]
Spondylo-humero-femoral dysplasia [↗]
Spondylo-megaepiphyseal-metaphyseal dysplasia [↗]
Spondylometaphyseal dysplasia, A4 type [↗]
Spondylometaphyseal dysplasia, Algerian type [↗]
Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism [↗]
Spondylometaphyseal dysplasia - cone-rod dystrophy [↗]
Spondylometaphyseal dysplasia, 'corner fracture' type [↗]
Spondylometaphyseal dysplasia, Golden type [↗]
Spondylometaphyseal dysplasia, Kozlowski type [↗]
Spondylometaphyseal dysplasia, Schmidt type [↗]
Spondylometaphyseal dysplasia, Sedaghatian type [↗]
Spondylometaphyseal dysplasia, Sutcliffe type [↗]
Spondylometaphyseal dysplasia with combined immunodeficiency [↗]
Spondylometaphyseal dysplasia with enchondromatous changes [↗]
Spondylometaphyseal dysplasia with severe genu valgum [↗]
Spondylo-ocular syndrome [↗]
Spondyloperipheral dysplasia - short ulna [↗]
Spongy degeneration of central nervous system [↗]
Spongy myocardium [↗]
Spontaneous periodic hypothermia [↗]
Sporadic achalasia [↗]
Sporadic adult-onset ataxia of unknown etiology [↗]
Sporadic IBSN [↗]
Sporadic idiopathic nephrosis [↗]
Sporadic idiopathic steroid-resistant nephrotic syndrome [↗]
Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy [↗]
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation [↗]
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis [↗]
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis [↗]
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis [↗]
Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes [↗]
Sporadic inclusion body myositis [↗]
Sporadic infantile bilateral striatal necrosis [↗]
Sporadic infantile striatonigral necrosis [↗]
Sporadic infantile subacute necrotizing encephalopathy [↗]
Sporadic Leigh disease [↗]
Sporadic Leigh syndrome [↗]
Sporadic lymphedema tarda [↗]
Sporadic olivopontocerebellar atrophy type 1 [↗]
Sporadic OPCA type 1 [↗]
Sporadic pheochromocytoma [↗]
Sporadic pheochromocytoma/secreting paraganglioma [↗]
Sporadic secreting paraganglioma [↗]
Sporadic severe hypospadias [↗]
Sporotrichosis [↗]
Spranger-Wiedemann disease [↗]
Sprengel deformity [↗]
Spring catarrh [↗]
Sprinz-Nelson syndrome [↗]
SPS [↗]
SQTS [↗]
Squamous cell carcinoma of head and neck [↗]
Squamous cell carcinoma of the corpus uteri [↗]
SRD5A3-CDG [↗]
SREAT [↗]
SSPE [↗]
Stalker-Chitayat syndrome [↗]
Stampe-Sorensen syndrome [↗]
Stanescu osteosclerosis [↗]
Stapedo-vestibular ankylosis [↗]
Stapes ankylosis with broad thumbs and toes [↗]
Staphylococcal necrotizing pneumonia [↗]
Staphylococcal scarlet fever [↗]
Staphylococcal toxic shock syndrome [↗]
STAR deficiency [↗]
Stargardt disease [↗]
Stark-Kaeser syndrome [↗]
STAR syndrome [↗]
Steatocystoma multiplex - natal teeth [↗]
Steele-Richardson-Olszewski disease [↗]
Steely hair disease [↗]
Steely hair syndrome [↗]
Steinert disease [↗]
Steinert myotonic dystrophy [↗]
Steinfeld syndrome [↗]
Stem cell leukemia/lymphoma [↗]
Stem cell transplantation [↗]
Stenosis and/or thrombosis of fistula in hemodialysis [↗]
Stenosis in synthetic grafts used in hemodialysis [↗]
Stenosis or atrophy of the coronary ostium [↗]
Sternal cleft [↗]
Sternal malformation - vascular dysplasia [↗]
Stern-Lubinsky-Durrie syndrome [↗]
Sternum bifidum [↗]
Steroid dehydrogenase deficiency - dental anomalies [↗]
Steroid-responsive encephalopathy associated with autoimmune thyroiditis [↗]
Steroid-sensitive MCNS [↗]
Steroid sulfatase deficiency [↗]
Sterol 27-hydroxylase deficiency [↗]
Sterol C5-desaturase deficiency [↗]
Sterol-delta8-isomerase deficiency [↗]
Stevens-Johnson syndrome [↗]
Stickler syndrome [↗]
Stickler syndrome, nonocular type [↗]
Stickler syndrome type 1 [↗]
Stickler syndrome type 2 [↗]
Stickler syndrome type 3 [↗]
Stickler syndrome type 4 [↗]
Stiff baby syndrome [↗]
Stiff-man syndrome [↗]
Stiff person syndrome [↗]
Stiff skin syndrome [↗]
Still disease [↗]
Stimmler syndrome [↗]
St Louis encephalitis [↗]
Stoelinga-de Koomen-Davis syndrome [↗]
Stoll-Alembik-Finck syndrome [↗]
Stoll-Géraudel-Chauvin syndrome [↗]
Stoll-Kieny-Dott syndrome [↗]
Stoll-Levy-Francfort syndrome [↗]
Stomach cancer [↗]
Stomatin deficient cryohydrocytosis - intellectual deficit - seizures - cataracts - hepatosplenomegaly [↗]
Stormorken-Sjaastad-Langslet syndrome [↗]
Straddling and/or overriding mitral valve [↗]
Straddling or overriding tricuspid valve [↗]
Stratton-Garcia-Young syndrome [↗]
Stratton-Parker syndrome [↗]
Streptobacillary rat-bite fever [↗]
Streptococcal toxic-shock syndrome [↗]
Stress cardiomyopathy [↗]
Stress erythrocytosis [↗]
Stress polycythemia [↗]
Striatonigral degeneration [↗]
Stromal keratitis [↗]
Stromal sarcoma of the corpus uteri [↗]
Strumpell disease [↗]
Strumpell-Lorrain disease [↗]
Stuart-Prower factor deficiency [↗]
Stuccokeratosis [↗]
Sturge-Weber syndrome [↗]
Stuve-Wiedemann dysplasia [↗]
Stuve-Wiedemann syndrome [↗]
Suarez-Stickler syndrome [↗]
Subacute angiohypertrophic myelomalacia [↗]
Subacute ascending necrotizing myelitis [↗]
Subacute cutaneous lupus erythematosus [↗]
Subacute inclusion body encephalitis [↗]
Subacute inflammatory demyelinating polyneuropathy [↗]
Subacute inflammatory demyelinating polyradiculoneuropathy [↗]
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 [↗]
Subcorneal pustular dermatosis [↗]
Subcortical band heterotopia [↗]
Sub-cortical nodular heterotopia [↗]
Subcutaneous panniculitis-like T-cell lymphoma [↗]
Subependymal giant cell astrocytoma [↗]
Subependymal nodular heterotopia [↗]
Subependymoma [↗]
Subepithelial mucinous corneal dystrophy [↗]
Submucosal cleft palate [↗]
Subpulmonary stenosis [↗]
Subtelomeric 1p36 deletion [↗]
Subtelomeric deletion 13q34 [↗]
Subtotal septate uterus [↗]
Succinic acidemia [↗]
Succinic semialdehyde dehydrogenase deficiency [↗]
Succinyl-CoA acetoacetate transferase deficiency [↗]
Sudanophilic leukodystrophy, Paelizeus-Merzbacher type [↗]
Sudden infant death - dysgenesis of the testes [↗]
Sudden unexplained nocturnal death syndrome [↗]
Sugarman syndrome [↗]
Sujansky-Leonard syndrome [↗]
Sulfite oxidase deficiency due to molybdenum cofactor deficiency [↗]
Sulfocysteinuria [↗]
Summerskill-Walshe-Tygstrup syndrome [↗]
Summertime actinic lichenoid eruption [↗]
Summitt syndrome [↗]
SUNCT syndrome [↗]
SUNDS [↗]
Superficial epidermolytic ichthyosis [↗]
Superficial lymphangioma [↗]
Superficial lymphatic malformation [↗]
Superficial pemphigus [↗]
Superficial siderosis [↗]
Superior limbic keratoconjunctivitis [↗]
Supernumerary breasts [↗]
Supernumerary der(22) syndrome [↗]
Supernumerary nostril [↗]
Supravalvar aortic stenosis [↗]
Supravalvular aortic stenosis [↗]
Supravalvular pulmonary stenosis [↗]
Susac syndrome [↗]
Susceptibility to chronic infection by Epstein-Barr virus [↗]
Susceptibility to respiratory infections associated with CD8alpha chain mutation [↗]
SVAS [↗]
Sveinsson chorioretinal atrophy [↗]
Sweet syndrome [↗]
Swift disease [↗]
Swift-Feer disease [↗]
Swyer syndrome [↗]
Sxt-HUS [↗]
Symbrachydactyly of hands and feet [↗]
Symmetrical thalamic calcifications [↗]
Sympathetic ophthalmia [↗]
Sympathetic uveitis [↗]
Sympathoblastoma [↗]
Symphalangism - brachydactyly [↗]
Symphalangism, Cushing type [↗]
Symphalangism with multiple anomalies of hands and feet [↗]
Symptomatic form of Coffin-Lowry syndrome in female carriers [↗]
Symptomatic form of hemophilia A in female carriers [↗]
Symptomatic form of hemophilia B in female carriers [↗]
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers [↗]
Synaptic congenital myasthenic syndromes [↗]
Syncopal paroxysmal tachycardia [↗]
Syncopal tachyarythmia [↗]
Syndactyly - ectodermal dysplasia - cleft/lip palate [↗]
Syndactyly, Malik-Percin type [↗]
Syndactyly of fingers 4 and 5 [↗]
Syndactyly-polydactyly-ear lobe syndrome [↗]
Syndactyly - preaxial polydactyly - sternal deformity [↗]
Syndactyly - telecanthus - anogenital and renal malformations [↗]
Syndactyly type 1 [↗]
Syndactyly type 1 - microcephaly - intellectual deficit [↗]
Syndactyly type 2 [↗]
Syndactyly type 3 [↗]
Syndactyly type 4 [↗]
Syndactyly type 5 [↗]
Syndactyly type 9 [↗]
Syndesmodysplasic dwarfism [↗]
Syndromatic diarrhea [↗]
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 diarrhea [↗]
Syndromic microphthalmia/anophthalmia due to OTX2 mutation [↗]
Syndromic microphthalmia type 1 [↗]
Syndromic microphthalmia type 10 [↗]
Syndromic microphthalmia type 2 [↗]
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 type 9 [↗]
Syndromic moyamoya disease [↗]
Syndromic multisystem autoimmune disease due to Itch deficiency [↗]
Syndromic optic nerve hypoplasia [↗]
Syndromic orbital border hypoplasia [↗]
Syndromic recessive X-linked ichthyosis [↗]
Syndromic RXLI [↗]
Syndromic X-linked ichthyosis [↗]
Syndromic X-linked intellectual deficit 7 [↗]
Syndromic X-linked intellectual deficit due to JARID1C mutation [↗]
Syndromic X-linked intellectual deficit type 10 [↗]
Syndromic X-linked intellectual deficit type 11 [↗]
Syngnathia - cleft palate [↗]
Syngnathia multiple anomalies [↗]
Synostosis - microcephaly - scoliosis [↗]
Synostotic plagiocephaly [↗]
Synovialosarcoma [↗]
Synovitis - acne - pustulosis - hyperostosis - osteitis [↗]
Synpolydactyly [↗]
Synspondylism [↗]
Syntelencephaly [↗]
Syringocystadenoma papilliferum [↗]
Syringomyelia [↗]
Systemic arteriovenous fistula [↗]
Systemic mastocytosis [↗]
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease [↗]
Systemic monochloroacetate poisoning [↗]
Systemic polyarthritis [↗]
Systemic scleroderma [↗]
Systemic sclerosis [↗]
Systemic sclerosis sine scleroderma [↗]

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