Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With S

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* S cone monochromacy - See Blue cone monochromatism
* S cone monochromatism - See Blue cone monochromatism
* S penetrans - See Tungiasis
* Saal Bulas syndrome
* Sabinas brittle hair syndrome
* Sabinas brittle hair syndrome is a form of nonphotosensitive trichothiodystrophy - See Sabinas brittle hair syndrome
* Sabinas syndrome - See Sabinas brittle hair syndrome
* Saccade initiation failure congenital - See Oculomotor apraxia Cogan type
* Saccharopine dehydrogenase deficiency - See Saccharopinuria
* Saccharopinuria
* Sack-Barabas syndrome - See Ehlers-Danlos syndrome vascular type
* Sackey Sakati Aur syndrome
* Sacral agenesis - See Caudal regression syndrome
* Sacral agenesis syndrome - See Caudal regression syndrome
* Sacral defect with anterior meningocele
* Sacral hemangiomas multiple congenital abnormalities
* Sacral meningocele conotruncal heart defects
* Sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck - See Sacral meningocele conotruncal heart defects
* Sacral neural cysts - See Tarlov cysts
* Sacral perineural cysts - See Tarlov cysts
* Sacral plexopathy
* Sacral regression syndrome - See Caudal regression syndrome
* Sacral Tarlov cysts - See Tarlov cysts
* Sacrococcygeal Teratoma
* SACS - See Spastic ataxia Charlevoix-Saguenay type
* SADDAN dysplasia - See Severe achondroplasia with developmental delay and acanthosis nigricans
* SADS - See Sudden Arrhythmia Death Syndrome
* Saethre-Chotzen syndrome
* Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis - See Cardiocranial syndrome
* Sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th - See Pfeiffer Tietze Welte syndrome
* Sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus - See Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
* Saguenay Lac Saint Jean syndrome - See MPI-CDG (CDG-Ib)
* Saito Kuba Tsuruta syndrome
* Saito-Kuba-Tsuruta syndrome - See Saito Kuba Tsuruta syndrome
* Sakati syndrome
* Sakati-Nyhan syndrome - See Sakati syndrome
* Sakati-Nyhan-Tisdale syndrome - See Sakati syndrome
* Sakoda complex
* Salamon syndrome - See Woolly hair hypotrichosis everted lower lip and outstanding ears
* Salcedo syndrome
* Saldino-Mainzer syndrome - See Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
* Saldino-Noonan syndrome - See Short rib-polydactyly syndrome type 1
* Salivary gland cancer, adult
* Salivary gland cancer, childhood
* Salivary gland inflammation - See Sialadenitis
* Salla disease
* Sallis Beighton syndrome
* Salt-losing tubular disorder, Henles loop type - See Bartter syndrome
* Salt-wasting tubulopathy, Henles loop type - See Bartter syndrome
* SAMHD1-related Aicardi-Goutieres syndrome - See Aicardi-Goutieres syndrome type 5
* Sammartino Decreccio syndrome
* SAMS 1-31 - See Cobb syndrome
* Samson Gardner syndrome
* Samson Viljoen syndrome
* San Joaquin fever - See Coccidioidomycosis
* San Luis Valley recombinant chromosome 8 syndrome - See Recombinant chromosome 8 syndrome
* San Luis Valley syndrome - See Recombinant chromosome 8 syndrome
* Sanchez Cascos cardioauditory syndrome - See Cardioauditory syndrome of Sanchez Cascos
* Sanderson Fraser syndrome
* Sandhaus Ben-Ami syndrome
* Sandhoff disease
* Sandhoff-Jatzkewitz-Pilz disease - See Sandhoff disease
* Sandifer syndrome
* Sandifer's syndrome - See Sandifer syndrome
* SANDO - See Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
* Sandrow syndrome - See Laurin-Sandrow syndrome
* Sanfilippo disease - See Mucopolysaccharidosis type IIIB
* Sanfilippo syndrome - See Mucopolysaccharidosis type III
* Sanfilippo syndrome A - See Mucopolysaccharidosis type IIIA
* Sanfilippo syndrome B - See Mucopolysaccharidosis type IIIB
* Sanfilippo syndrome C - See Mucopolysaccharidosis type IIIC
* Sanfilippo syndrome D - See Mucopolysaccharidosis type IIID
* Sanfilippo syndrome type A - See Mucopolysaccharidosis type IIIA
* Sanfilippo syndrome type B - See Mucopolysaccharidosis type IIIB
* Sanjad-Sakati syndrome - See Hypoparathyroidism-retardation-dysmorphism syndrome
* Santavuori congenital muscular dystrophy - See Muscle eye brain disease
* Santos Mateus Leal syndrome
* SAPHO syndrome
* Saposin A deficiency - See Krabbe disease atypical due to Saposin A deficiency
* SAR - See Sarcosinemia
* SAR deficiency - See Sarcosinemia
*   Sarcoid of Boeck - See Sarcoidosis
*   Sarcoidosis
* Sarcoma botryoides
* Sarcoma family syndrome of Li and Fraumeni - See Li-Fraumeni syndrome
* Sarcoma of the uterus - See Uterine sarcoma
* Sarcoma, Ewing's - See Ewing's sarcoma
* Sarcomatous glioblastoma - See Gliosarcoma
* Sarcoplasmic reticulum -Ca2+ATPase deficiency - See Brody myopathy
* Sarcopsylla penetrans - See Tungiasis
* Sarcosin dehydrogenase complex, deficiency of - See Sarcosinemia
* Sarcosine dehydrogenase complex deficiency - See Sarcosinemia
* Sarcosinemia
* Sarcotubular myopathy - See Limb-girdle muscular dystrophy type 2H
* SARDH deficiency - See Sarcosinemia
* SARS
* Satoyoshi syndrome
* Saturnism - See Acute mountain sickness
* Saul Wilkes Stevenson syndrome
* SAVI - See STING-associated vasculopathy with onset in infancy
* Say Barber Biesecker Young-Simpson syndrome - See Blepharophimosis intellectual disability syndromes
* Say Barber Hobbs syndrome - See Say syndrome
* Say Barber Miller syndrome
* Say Carpenter syndrome
* Say Meyer syndrome
* Say syndrome
* Say-Barber-Hobbs syndrome - See Say syndrome
* Say-Barber-Miller syndrome - See Say Barber Miller syndrome
* Say-Field-Coldwell syndrome
* Say-Meyer syndrome - See Say Meyer syndrome
* SBBYS syndrome - See Blepharophimosis intellectual disability syndromes
* SBC - See Secretory breast carcinoma
* SBCAD deficiency - See 2-methylbutyryl-CoA dehydrogenase deficiency
* SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland) - See Li-Fraumeni syndrome
* SBMA - See Kennedy disease
* SBS - See Brooke-Spiegler syndrome
* SC phocomelia - See Roberts syndrome
* SC phocomelia syndrome (mild variant of Roberts syndrome) - See Roberts syndrome
* SC pseudothalidomide syndrome - See Roberts syndrome
* SC5D deficiency - See Lathosterolosis
* SCA - See Spinocerebellar ataxia
* SCA 17 - See Spinocerebellar ataxia 17
* SCA 2 - See Spinocerebellar ataxia 2
* SCA1 - See Spinocerebellar ataxia 1
* SCA10 - See Spinocerebellar ataxia 10
* SCA11 - See Spinocerebellar ataxia 11
* SCA12 - See Spinocerebellar ataxia 12
* SCA13 - See Spinocerebellar ataxia 13
* SCA14 - See Spinocerebellar ataxia 14
* SCA15 - See Spinocerebellar ataxia 15
* SCA15/16 - See Spinocerebellar ataxia 15
* SCA16 (formerly) - See Spinocerebellar ataxia 15
* SCA17 - See Spinocerebellar ataxia 17
* SCA18 - See Spinocerebellar ataxia 18
* SCA19/22 - See Hereditary ataxia
* SCA2 - See Spinocerebellar ataxia 2
* SCA20 - See Spinocerebellar ataxia 20
* SCA21 - See Spinocerebellar ataxia 12
* SCA21 - See Spinocerebellar ataxia 21
* SCA23 - See Spinocerebellar ataxia 23
* SCA25 - See Spinocerebellar ataxia 25
* SCA26 - See Spinocerebellar ataxia 26
* SCA27 - See Spinocerebellar ataxia 27
* SCA28 - See Spinocerebellar ataxia 28
* SCA29 - See Spinocerebellar ataxia 29
* SCA3 - See Saethre-Chotzen syndrome
* SCA3 - See Spinocerebellar ataxia 3
* SCA30 - See Spinocerebellar ataxia 30
* SCA31 - See Spinocerebellar ataxia 31
* SCA34 - See Spinocerebellar ataxia 34
* SCA35 - See Hereditary ataxia
* SCA36 - See Hereditary ataxia
* SCA37 - See Hereditary ataxia
* SCA38 - See Hereditary ataxia
* SCA4 - See Spinocerebellar ataxia 4
* SCA40 - See Hereditary ataxia
* SCA5 - See Spinocerebellar ataxia 5
* SCA6 - See Spinocerebellar ataxia type 6
* SCA7 - See Spinocerebellar ataxia 7
* SCA8 - See Spinocerebellar ataxia 8
* SCA8 (formerly) - See Infantile onset spinocerebellar ataxia
* SCA9 - See Spinocerebellar ataxia 9
* SCABD - See Spinocerebellar ataxia autosomal recessive 3
* SCAD deficiency - See Short chain acyl CoA dehydrogenase deficiency
* SCADD - See Short chain acyl CoA dehydrogenase deficiency
* SCADH deficiency - See Short chain acyl CoA dehydrogenase deficiency
* Scalp and head syndrome - See Adams Oliver syndrome
* Scalp defect congenital - See Aplasia cutis congenita
* Scalp defects - postaxial polydactyly - See Scalp defects postaxial polydactyly
* Scalp defects postaxial polydactyly
* Scalp defects with ectrodactyly - See Adams Oliver syndrome
* Scalp ear nipple syndrome
* Scalp-ear-nipple syndrome - See Scalp ear nipple syndrome
* SCAN 2 - See Spinocerebellar ataxia autosomal recessive 1
* SCAN1 - See Spinocerebellar ataxia autosomal recessive with axonal neuropathy
* Scapuloperoneal amyotrophy - See Scapuloperoneal syndrome, neurogenic, Kaeser type
* Scapuloperoneal muscular atrophy - See Scapuloperoneal syndrome, neurogenic, Kaeser type
* Scapuloperoneal muscular dystrophy - See MYH7-related scapuloperoneal myopathy
* Scapuloperoneal myopathy, FHL1-related - See X-linked dominant scapuloperoneal myopathy
* Scapuloperoneal myopathy, MYH7-related - See MYH7-related scapuloperoneal myopathy
* Scapuloperoneal myopathy, X-linked dominant - See X-linked dominant scapuloperoneal myopathy
* Scapuloperoneal spinal muscular atrophy - See Amyotrophy, neurogenic scapuloperoneal, New England type
* Scapuloperoneal syndrome, myopathic type - See MYH7-related scapuloperoneal myopathy
* Scapuloperoneal syndrome, neurogenic type, of Kaeser - See Scapuloperoneal syndrome, neurogenic, Kaeser type
* Scapuloperoneal syndrome, neurogenic, Kaeser type
* Scapuloperoneal syndrome, X-linked (formerly) - See Emery-Dreifuss muscular dystrophy
* SCAR1 - See Spinocerebellar ataxia autosomal recessive 1
* SCAR2 - See Cerebelloparenchymal disorder 3
* SCAR3 - See Spinocerebellar ataxia autosomal recessive 3
* SCAR4 - See Spinocerebellar ataxia autosomal recessive 4
* SCAR5 - See Spinocerebellar ataxia autosomal recessive 5
* SCAR6 - See Spinocerebellar ataxia autosomal recessive 6
* SCAR7 - See Spinocerebellar ataxia autosomal recessive 7
* SCAR8 - See Spinocerebellar ataxia autosomal recessive 8
* SCARF syndrome
* SCASI - See Spinocerebellar ataxia autosomal recessive 4
* SCAX2 - See Spinocerebellar ataxia X-linked type 2
* SCAX3 - See Spinocerebellar ataxia X-linked type 3
* SCAX4 - See Spinocerebellar ataxia X-linked type 4
* SCCB - See Small cell carcinoma of the bladder
* SCCD - See Corneal dystrophy crystalline of Schnyder
* SCCMS - See Slow-channel congenital myasthenic syndrome
* SCD - See Corneal dystrophy crystalline of Schnyder
* SCD - See Subacute cerebellar degeneration
* SCDO1 - See Spondylocostal dysostosis 1
* SCDO2 - See Spondylocostal dysostosis 2
* SCDS - See Superior canal dehiscence syndrome
* Schaap Taylor Baraitser syndrome
* SCHAD deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* Schaefer Stein Oshman syndrome
* Schamberg disease - See Pigmented purpuric eruption
* Schamberg purpura - See Pigmented purpuric eruption
*   Schaumann's disease - See Sarcoidosis
* Scheie syndrome (former subtype; formerly known as Mucopoly-saccharidosis type V) - See Mucopolysaccharidosis type I
* Schereshevkii Turner Syndrome - See Turner syndrome
* Scheuermann disease
* Scheuermann kyphosis - See Scheuermann disease
* Schiel Stengel Rutkowski Syndrome - See Narrow oral fissure short stature cone shaped epiphyses
* Schilbach-Rott syndrome - See Hypotelorism cleft palate hypospadias
* Schimke immunoosseous dysplasia
* Schimke immuno-osseous dysplasia - See Schimke immunoosseous dysplasia
* Schimke syndrome - See Schimke immunoosseous dysplasia
* Schimke X-linked mental retardation syndrome
* Schimmelpenning Feuerstein Mims syndrome - See Linear nevus sebaceous syndrome
* Schimmelpenning syndrome - See Linear nevus sebaceous syndrome
* Schindler disease type 1 - See Schindler disease, type 1
* Schindler disease type 2 - See Kanzaki disease
* Schindler disease, type 1
* Schinzel acrocallosal syndrome - See Acrocallosal syndrome, Schinzel type
* Schinzel Giedion midface-retraction syndrome - See Schinzel Giedion syndrome
* Schinzel Giedion syndrome
* Schinzel phocomelia syndrome - See Ulna and fibula absence of with severe limb deficiency
* Schinzel syndrome - See Ulnar-mammary syndrome
* Schinzel syndrome 1 - See Acrocallosal syndrome, Schinzel type
* Schinzel-Giedion syndrome - See Schinzel Giedion syndrome
* Schisis association
* Schistosoma mansoni infection - See Schistosomiasis
* Schistosomiasis
* Schizencephaly
* Schizophrenia mental retardation deafness retinitis
* Schizotaxia
* Schlegelberger Grote syndrome
* Schmid metaphyseal dysostosis - See Spondylometaphyseal dysplasia Algerian type
* Schmid-Fraccaro syndrome - See Cat Eye syndrome
* Schmidt syndrome - See Autoimmune polyglandular syndrome type 2
* Schmidt's syndrome - See Autoimmune polyglandular syndrome type 2
* Schmitt Gillenwater Kelly syndrome
* Schneckenbecken dysplasia
* Schnitzler syndrome
* Schnyder corneal dystrophy - See Corneal dystrophy crystalline of Schnyder
* Schnyder crystalline corneal dystrophy - See Corneal dystrophy crystalline of Schnyder
* Schnyder crystalline dystrophy sine crystals - See Corneal dystrophy crystalline of Schnyder
* Schofer Beetz Bohl syndrome - See Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
* Schofer-Beetz-Bohl syndrome - See Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
* Scholte syndrome
* Schrander-Stumpel Theunissen Hulsmans syndrome
* Schroer Hammer Mauldin syndrome
* Schulman-Upshaw syndrome - See Thrombotic thrombocytopenic purpura, congenital
* Schut-Haymaker type OPCA - See Spinocerebellar ataxia 1
* Schwannoma
* Schwannomatosis
*   Schwartz Bartter syndrome - See Syndrome of inappropriate antidiuretic hormone
* Schwartz Cohen-Addad Lambert syndrome
* Schwartz Jampel Aberfeld syndrome - See Schwartz Jampel syndrome type 1
* Schwartz Jampel syndrome - See Schwartz Jampel syndrome type 1
* Schwartz Jampel syndrome type 1
* Schwartz-Jampel syndrome - See Schwartz Jampel syndrome type 1
* Schwartz-Jampel syndrome neonatal - See Stuve-Wiedemann syndrome
* Schwartz-Jampel syndrome type 1 - See Schwartz Jampel syndrome type 1
* Schwartz-Jampel syndrome type 2 - See Stuve-Wiedemann syndrome
* Schwartz-Jampel-Aberfeld syndrome - See Schwartz Jampel syndrome type 1
* Schweitzer Kemink Graham syndrome - See Thickened earlobes with conductive deafness from incus-stapes abnormalities
* SCID - See Severe combined immunodeficiency
* SCID due to ADA deficiency - See Adenosine deaminase deficiency
* SCID due to adenosine deaminase deficiency - See Adenosine deaminase deficiency
* SCID due to artemis deficiency - See Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
* SCID due to DCLRE1C deficiency - See Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
* SCID with leukopenia - See Reticular dysgenesis
* SCID, AR, T-cell negative, B-cell negative, NK cell-positive - See Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
* SCID, Athabascan type - See Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
* SCID, Athabaskan type - See Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
* SCID, atypical - See Severe combined immunodeficiency, atypical
* SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation - See Severe combined immunodeficiency with sensitivity to ionizing radiation
* SCID, HLA Class 2-Negative - See Bare lymphocyte syndrome 2
* SCID, X-linked - See X-linked severe combined immunodeficiency
* SCIDX - See X-linked severe combined immunodeficiency
* SCIDX1 - See X-linked severe combined immunodeficiency
* Scimitar anomaly - See Pulmonary venous return anomaly
* Scimitar syndrome - See Pulmonary venous return anomaly
* SCKL - See Seckel syndrome
* SCLC, adult - See Small cell lung cancer, adult
* SCLC, childhood - See Small cell lung cancer, childhood
* Scleredema
* Scleredema adultorum - See Scleredema
* Scleredema adultorum of Buschke - See Scleredema
* Scleredema diabeticorum - See Scleredema
* Scleredema diabeticorum of Buschke - See Scleredema
* Scleroatonic muscular dystrophy - See Ullrich congenital muscular dystrophy
* Scleroatrophic and keratotic dermatosis of limbs - See Sclerotylosis
* Scleroatrophic syndrome - See Sclerotylosis
* Sclerocornea, Syndactyly, ambiguous genitalia
*   Scleroderma
* Scleroderma, juvenile - See Juvenile Scleroderma
* Scleroderma, linear - See Linear scleroderma
* Scleroderma, localized - See Localized scleroderma
* Scleroderma, sine - See Sine scleroderma
* Scleroderma, systemic - See Systemic scleroderma
* Scleromyxedema
* Sclerosing bone dysplasia mental retardation
* Sclerosing cholangitis - See Primary sclerosing cholangitis
* Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure - See Osteosclerosis with ichthyosis and premature ovarian failure
* Sclerosing lymphocytic lobulitis - See Diabetic mastopathy
* Sclerosing mediastinitis - See Fibrosing mediastinitis
* Sclerosing mediastinitis - See Multifocal fibrosclerosis
* Sclerosing mesenteritis
* Sclerosing mucoepidermoid carcinoma with eosinophilia
* Sclerosing panniculitis - See Lipodermatosclerosis
* Sclerosteosis
* Sclerotic bones with dentin dysplasia - See Dentin dysplasia sclerotic bones
* Sclerotylosis
* SCLS - See Systemic capillary leak syndrome
* SCN3 - See Severe congenital neutropenia autosomal recessive 3
* SCOD3 - See Spondylocostal dysostosis 3
* SCOD4 - See Spondylocostal dysostosis 4
* Scoliosis with unilateral unsegmented bar
* Scoliosis, congenital with unilateral unsegmented bar - See Spondylocarpotarsal synostosis syndrome
* Scorbutus - See Scurvy
* SCOT deficiency
* Scott Aarskog syndrome - See Aarskog syndrome
* Scott Bryant Graham syndrome
* Scott craniodigital syndrome - See Scott Bryant Graham syndrome
* Scott craniodigital syndrome with mental retardation - See Scott Bryant Graham syndrome
* Scott syndrome
* Scott-Bryant-Graham syndrome - See Scott Bryant Graham syndrome
* Scott-Taor syndrome - See Stiff person syndrome
* Scott-Taor syndrome - See Small patella syndrome
* SCS - See Saethre-Chotzen syndrome
* SCT - See Spondylocarpotarsal synostosis syndrome
* Scurvy
* SD - See Salla disease
* SD - See Spasmodic dysphonia
* SD/THE - See Tricho-hepato-enteric syndrome
* SD1 - See Syndactyly type 1
* SD3 - See Syndactyly type 3
* SD5 - See Syndactyly type 5
* SDAM - See Sacral defect with anterior meningocele
* SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 2) - See Paragangliomas 2
* SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome - See Paragangliomas 4
* SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 3) - See Paragangliomas 3
* SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 1) - See Paragangliomas 1
* SDHx-related paraganglioma-pheochromocytoma - See Hereditary paraganglioma-pheochromocytoma
* SDHx-related paraganglioma-pheochromocytoma - See Pheochromocytoma
* SDS - See Shwachman-Diamond syndrome
* SDSEM - See Spinocerebellar ataxia 2
* SDTY1 - See Syndactyly type 1
* SDTY3 - See Syndactyly type 3
* SDYS - See Simpson-Golabi-Behmel syndrome
* SE - See Status epilepticus
* Sea-Blue histiocyte disease - See Sea-Blue histiocytosis
* Sea-Blue histiocytosis
* Seatworm - See Enterobiasis
* Seaver Cassidy syndrome
* Seaver-Cassidy syndrome - See Seaver Cassidy syndrome
* Sebaceous gland hyperplasia, familial presenile
* Sebaceous nevus syndrome linear - See Linear nevus sebaceous syndrome
* Sebastian platelet syndrome - See MYH9 related thrombocytopenia
* Sebastian syndrome - See MYH9 related thrombocytopenia
* Sebocystomatosis
* Seborrheic keratoses - See Keratosis, seborrheic
* SEC23B-CDG - See Congenital dyserythropoietic anemia type 2
* Secernentea Infections
* Seckel like syndrome Majoor-Krakauer type
* Seckel syndrome
* Seckel-type dwarfism - See Seckel syndrome
* Second metatarsal osteochondrosis - See Freiberg's disease
* Secondary acquired cholesteatoma (type) - See Cholesteatoma
* Secondary aplastic anemia - See Aplastic anemia
* Secondary hypertrophic osteoperiostosis with pernio - See Nakajo Nishimura syndrome
* Secondary Non-tropical Sprue - See Whipple disease
* Secondary retention of permanent molars - See Ankylosis of teeth
* Secretory breast carcinoma
* SED - See Spondyloepiphyseal dysplasia tarda X-linked
* SED and SEMD - See Spondyloepiphyseal dysplasia congenita
* SED congenita - See Spondyloepiphyseal dysplasia congenita
* SED, chondroitin sulfate type - See Spondyloepiphyseal dysplasia tarda Toledo type
* SED, Maroteaux type - See Spondyloepiphyseal dysplasia Maroteaux type
* SED-BDS - See Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
* SEDC - See Spondyloepiphyseal dysplasia congenita
* Sedlackova syndrome - See 22q11.2 deletion syndrome
* SEDT-PA - See Progressive pseudorheumatoid arthropathy of childhood
* Seemanova Lesny syndrome - See Microcephaly microcornea syndrome Seemanova type
* Seemanova syndrome 2 - See Nijmegen breakage syndrome
* Seemanova syndrome type 2 - See Nijmegen breakage syndrome
* Seemanova-Lesny syndrome - See Microcephaly microcornea syndrome Seemanova type
* SEGA - See Subependymal giant cell astrocytoma
* Segawa syndrome, autosomal dominant - See Dystonia 5, Dopa-responsive type
* Segawa syndrome, autosomal recessive - See Tyrosine hydroxylase deficiency
* Seghers syndrome - See Imperforate oropharynx-costo vetebral anomalies
* Segmental cranial dystonia - See Meige syndrome
* Segmental glomerulosclerosis - See Focal segmental glomerulosclerosis
* Segmental neurofibromatosis - See Neurofibromatosis type 5
* Segmental vertebral anomalies - See Occult spinal dysraphism
* Segmentation syndrome 1
* SEI - See Ichthyosis bullosa of Siemens
* Seip syndrome - See Congenital generalized lipodystrophy type 2
* Seitelberger disease - See Neuroaxonal dystrophy, infantile
* Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance - See SeSAME syndrome
* Seizures benign familial neonatal recessive form
* Seizures mental retardation hair dysplasia
* Seizures, benign familial infantile, 1 - See Convulsions, benign familial infantile, 1
* Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance - See SeSAME syndrome
* Selective cobalamin malabsorption with proteinuria - See Imerslund-Grasbeck syndrome
* Selective IgA deficiency
* Selective mutism - See Elective mutism
* Selenium poisoning
* Selig Benacerraf Greene syndrome
* Selig-Benacerraf-Greene syndrome - See Renal dysplasia megalocystis sirenomelia
* SEM - See Spondyloenchondrodysplasia
* Semantic dementia
* Semantic primary progressive aphasia - See Semantic dementia
* Semantic variant PPA - See Semantic dementia
* SEMD Genevieve type - See Spondyloepimetaphyseal dysplasia Genevieve type
* SEMD MATN3-related - See Spondyloepimetaphyseal dysplasia Matrilin-3 related
* SEMD Missouri type - See Spondyloepimetaphyseal dysplasia Missouri type
* SEMD Shohat type - See Spondyloepimetaphyseal dysplasia Shohat type
* SEMD type 2 - See Spondylometaepiphyseal dysplasia short limb-hand type
* SEMD X-linked - See Spondyloepimetaphyseal dysplasia X-linked
* SEMD X-linked with mental deterioration - See Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
* SEMD, Aggrecan type - See Spondyloepimetaphyseal dysplasia, Aggrecan type
* SEMD, MATN3-related - See Spondyloepimetaphyseal dysplasia Matrilin-3 related
* SEMD, matrilin-3 type - See Spondyloepimetaphyseal dysplasia Matrilin-3 related
* SEMD, Missouri type - See Spondylometaepiphyseal dysplasia short limb-hand type
* SEMD, Shohat type - See Spondyloepimetaphyseal dysplasia Shohat type
* SEMDJL - See Spondyloepimetaphyseal dysplasia joint laxity
* SEMD-JL - See Spondyloepimetaphyseal dysplasia joint laxity
* SEMDJL1 - See Spondyloepimetaphyseal dysplasia joint laxity
* SEMDJL2 - See Spondyloepimetaphyseal dysplasia with multiple dislocations
* SEMD-MD - See Spondyloepimetaphyseal dysplasia with multiple dislocations
* SEMDX - See Spondyloepimetaphyseal dysplasia X-linked
* Semilobar holoprosencephaly and primary craniosynostosis - See Genoa syndrome
* Seminoma
* Seminoma of the testis - See Isaac's syndrome
* Seminomatous germ cell tumor of the testis - See Isaac's syndrome
* Semmekrot Haraldsson Weemaes syndrome
* Sen Syndrome - See Scalp ear nipple syndrome
* Sener syndrome
* Sengers syndrome - See Cataract and cardiomyopathy
* Sengers-Hamel-Otten syndrome - See Hydrocephalus obesity hypogonadism
* Senile cerebral amyloid angiopathy - See Amyloidosis cerebral
* Senile Dermatitis Herpetiformis - See Bullous pemphigoid
* Senior Loken Syndrome
* Senior syndrome - See BOD syndrome
* Senior-Loken Syndrome - See Senior Loken Syndrome
* Sennetsu Fever
* Sensenbrenner syndrome - See Cranioectodermal dysplasia
* Sensitization to 2-hydroxyethyl methacrylate - See 2-hydroxyethyl methacrylate sensitization
* Sensorimotor neuropathy with ataxia autosomal dominant - See Spinocerebellar ataxia 18
* Sensorineural deafness and male infertility - See Deafness-infertility syndrome
* Sensorineural deafness with imperforate anus and hypoplastic thumbs - See Townes-Brocks syndrome
* Sensorineural deafness with Pituitary dwarfism - See Winkelman Bethge Pfeiffer syndrome
* Sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5 - See Pfeiffer Kapferer syndrome
* Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear - See Deafness, X-linked 2
* Sensorineural hearing loss - pontobulbar palsy - See Brown-Vialetto-Van Laere syndrome
* Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities - See Deafness enamel hypoplasia nail defects
* Sensory ataxic neuropathy - dysarthria - ophthalmoparesis - See Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
* Sensory neuropathy type 1
* Sensory neuropathy with deafness and dementia - See Wright Dyck syndrome
* Senter syndrome
* Seow Najjar syndrome
* Sepiapterin reductase deficiency
* Sepsis in premature infants - See Retinopathy of prematurity
* Septic arthritis - See Infectious arthritis
* Septic phlebitis of the internal jugular vein - See Lemierre syndrome
* Septooptic dysplasia - See Septo-optic dysplasia
* Septo-optic dysplasia
* Septo-optic dysplasia spectrum - See Septo-optic dysplasia
* Septo-optic dysplasia with digital anomalies - See Pagon Stephan syndrome
* Septo-optic dysplasia with growth hormone deficiency - See Septo-optic dysplasia
* Sequeiros Sack syndrome
* Seres-Santamaria Arimany Muniz syndrome
* Serine pyruvate aminotransferase deficiency - See Primary hyperoxaluria type 1
* Serkal syndrome
* Serpentine fibula - polycystic kidneys - See Serpentine fibula polycystic kidney syndrome
* Serpentine fibula polycystic kidney syndrome
* Serpentine fibula syndrome - See Serpentine fibula polycystic kidney syndrome
* Serpiginous choroiditis
* Serpiginous choroidopathy - See Serpiginous choroiditis
* Sertoli cell-only syndrome
* Sertoli-leydig cell tumor of the ovary - See Sertoli-leydig cell tumors
* Sertoli-leydig cell tumors
* Serum neuritis - See Parsonage Turner syndrome
* SeSAME syndrome
* Setleis syndrome - See Facial ectodermal dysplasia
* Seven year itch - See Crusted scabies
* Severe achondroplasia with developmental delay and acanthosis nigricans - See Severe achondroplasia with developmental delay and acanthosis nigricans
* Severe achondroplasia with developmental delay and acanthosis nigricans
* Severe acute respiratory syndrome - See SARS
* Severe childhood autosomal recessive muscular dystrophy, North African type - See Limb-girdle muscular dystrophy, type 2C
* Severe combined immunodeficiency
* Severe combined immunodeficiency due to ADA deficiency - See Adenosine deaminase deficiency
* Severe combined immunodeficiency due to adenosine deaminase deficiency - See Adenosine deaminase deficiency
* Severe combined immunodeficiency due to artemis deficiency - See Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
* Severe combined immunodeficiency due to DCLRE1C deficiency - See Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
* Severe combined immunodeficiency due to ZAP70 deficiency - See ZAP-70 deficiency
* Severe combined immunodeficiency T- B+ due to gamma chain deficiency - See X-linked severe combined immunodeficiency
* Severe combined immunodeficiency T- B+, X-linked - See X-linked severe combined immunodeficiency
* Severe combined immunodeficiency with hypereosinophilia - See Omenn syndrome
* Severe combined immunodeficiency with leukopenia - See Reticular dysgenesis
* Severe combined immunodeficiency with sensitivity to ionizing radiation
* Severe combined immunodeficiency, Athabascan type - See Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
* Severe combined immunodeficiency, Athabaskan type - See Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
* Severe combined immunodeficiency, atypical
* Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency - See Adenosine deaminase deficiency
* Severe combined immunodeficiency, HLA class ii-negative - See Bare lymphocyte syndrome 2
* Severe combined immunodeficiency, X-linked - See X-linked severe combined immunodeficiency
* Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative - See X-linked severe combined immunodeficiency
* Severe congenital anemia hydrops fetalis immune disorder and absent thumbs - See Semmekrot Haraldsson Weemaes syndrome
* Severe congenital neutropenia autosomal dominant
* Severe congenital neutropenia autosomal recessive 3
* Severe congenital neutropenia type 3 - See Severe congenital neutropenia autosomal recessive 3
* Severe congenital neutropenia X-linked
* Severe dental aberrations in familial steroid dehydrogenase deficiency - See Steroid dehydrogenase deficiency dental anomalies
* Severe developmental delay and multiple strawberry naevi - See Upton Young syndrome
* Severe dystrophinopathy, Duchenne and Becker type - See Duchenne muscular dystrophy
* Severe generalized RDEB - See Severe generalized recessive dystrophic epidermolysis bullosa
* Severe generalized recessive dystrophic epidermolysis bullosa
* Severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin - See Grubben de Cock Borghgraef syndrome
* Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
* Severe infantile axonal neuropathy
* Severe infantile axonal neuropathy with respiratory failure - See Spinal muscular atrophy with respiratory distress 1
* Severe intellectual disability and progressive spastic paraplegia - See Spastic paraplegia 51
* Severe intellectual retardation and intractable seizures - See Partial agenesis of corpus callosum
* Severe 'knock-knees' and variable lesser malalignment at the elbows and wrists - See Genu valgum, st Helena familial
* Severe limb deficit - See Ulna and fibula absence of with severe limb deficiency
* Severe mental deficiency proportionate dwarfism and delayed sexual maturation - See Cantu Sanchez-Corona Fragoso syndrome
* Severe mental retardation and absent nails of hallux and pollex
* Severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet - See Kaufman oculocerebrofacial syndrome
* Severe microcephaly and self-limiting dilated cardiomyopathy - See Microcephaly-cardiomyopathy
* Severe microcephaly with mental retardation and dilated cardiomyopathy - See Microcephaly-cardiomyopathy
* Severe MPS I (subtype) - See Mucopolysaccharidosis type I
* Severe MPS II - See Mucopolysaccharidosis type II
* Severe muscle pain and abnormally high eosinophils - See Eosinophilia-myalgia syndrome
* Severe Myoclonic Epilepsy of Infancy - See Dravet syndrome
* Severe myoclonus epilepsy of infancy - See Dravet syndrome
* Severe or complete loss of motor function in the lower extremities and lower portions of the trunk - See Paraplegia
* Severe osteogenesis imperfecta - See Osteogenesis imperfecta type 3
* Severe refractory status epilepticus owing to presumed encephalitis - See Febrile infection-related epilepsy syndrome
* Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism - See Devriendt syndrome
* Severe thrombocytopenia and selective, marked decrease or absence of megakaryocytes - See Thrombocytopenia, acquired amegakaryocytic
* Severe ulnar aplasia and lobster claw feet - See Ulnar hypoplasia lobster claw deformity of feet
* Severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities - See Brachymesomelia renal syndrome
* Severe upper limb hypoplasia and Mullerian duct anomalies - See Hypomelia mullerian duct anomalies
* Sex-linked mental retardation, short stature, obesity and hypogonadism - See Young Hughes syndrome
* Sexual ateleiotic dwarfism - See Isolated growth hormone deficiency type 1A
* Sexual precocity - See Precocious puberty
* Sexual precocity, familial, gonadotropin-independent - See Testotoxicosis
* Sézary lymphoma - See Sezary syndrome
* Sezary syndrome
* Sézary syndrome - See Sezary syndrome
* Sezary's lymphoma - See Sezary syndrome
* SFD - See Fundus dystrophy, pseudoinflammatory, of Sorsby
* SFM syndrome - See Linear nevus sebaceous syndrome
* SFM1 - See Mental retardation-hypotonic facies syndrome X-linked, 1
* SFMS - See Mental retardation Smith Fineman Myers type
* SFPKS - See Serpentine fibula polycystic kidney syndrome
* SGBS - See Simpson-Golabi-Behmel syndrome
* SGBS1 - See Simpson-Golabi-Behmel syndrome
* SGFLD syndrome - See Splenogonadal fusion limb defects micrognatia
* SGLT1 deficiency - See Glucose-galactose malabsorption
* SGLT2 deficiency - See Renal glycosuria
* SGM1 - See Segmentation syndrome 1
* SGS - See Shprintzen-Goldberg craniosynostosis syndrome
* SGS - See Schinzel Giedion syndrome
* SH2D1A-Related Lymphoproliferative Disease, X-Linked - See X-linked lymphoproliferative syndrome 1
* Shabbir syndrome - See Laryngoonychocutaneous syndrome
* Shah-Waardenburg syndrome - See Waardenburg syndrome type 4
*   Shaking palsy - See Parkinson disease
* Shaky leg syndrome - See Primary orthostatic tremor
* Shapiro syndrome
* Shapiro's syndrome - See Shapiro syndrome
* Sharp syndrome
* Shashi X-linked mental retardation syndrome - See Mental retardation X-linked syndromic 11
* Shaver disease - See Shaver's disease
* Shaver's disease
* Sheehan syndrome
* Sheldon Hall syndrome - See Arthrogryposis distal type 2B
* SHFD1 - See Split hand foot malformation 1
* SHFD2 - See Split hand/foot malformation X-linked
* SHFLD - See Cleft hand absent tibia
* SHFLD syndrome - See Cleft hand absent tibia
* SHFM - See Split hand foot malformation
* SHFM associated with aplasia of long bones - See Cleft hand absent tibia
* SHFM1 - See Split hand foot malformation 1
* SHFM2 - See Split hand/foot malformation X-linked
* Shigellosis
* Shith Filkins syndrome
* SHML - See Rosai-Dorfman disease
* Shock lung - See Acute respiratory distress syndrome
* Shokeir syndrome - See Alopecia, epilepsy, pyorrhea, mental subnormality
* Short arm of chromosome 18 duplication - See Chromosome 18p duplication
* Short arm of chromosome 18 trisomy - See Chromosome 18p duplication
* Short arm of chromosome 4 trisomy - See Chromosome 4p duplication
* Short arm of chromosome 5 trisomy - See Chromosome 5p duplication
* Short bowel syndrome
* Short branched-chain acyl-CoA dehydrogenase deficiency - See 2-methylbutyryl-CoA dehydrogenase deficiency
* Short broad great toe macrocranium
* Short chain acyl CoA dehydrogenase deficiency
* Short chain acyl-CoA dehydrogenase deficiency - See Short chain acyl CoA dehydrogenase deficiency
* Short foot/brachydactyly of toes, camptodactyly , brachydactyly - See Camptobrachydactyly
* Short limb dwarf edema iris coloboma
* Short limb dwarf lethal Colavita Kozlowski type
* Short limb dwarf lethal Mcalister Crane type - See Lethal short-limb dwarfism, McAlister-Crane type
* Short limb dwarf, edema, iris coloboma - See Wegmann Jones Smith syndrome
* Short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation - See Spondyloepimetaphyseal dysplasia Sponastrime type
* Short limb-dwarf lethal, McAlister-Crane type - See Lethal short-limb dwarfism, McAlister-Crane type
* Short limbed dwarfism with extensive stippling - See Astley-Kendall syndrome
* Short limbs abnormal face congenital heart disease
* Short limbs subluxed knees cleft palate
* Short rib dysplasia - See Prieto X-linked mental retardation syndrome
* Short rib polydactyly syndrome Beemer-Langer type - See Short rib-polydactyly syndrome type 4
* Short rib polydactyly syndrome Verma Naumoff type - See Short rib-polydactyly syndrome type 3
* Short rib-polydactyly syndrome type 3
* Short rib-polydactyly syndrome Beemer type - See Short rib-polydactyly syndrome type 4
* Short rib-polydactyly syndrome Majewski type - See Short rib-polydactyly syndrome type 2
* Short rib-polydactyly syndrome Saldino-Noonan type - See Short rib-polydactyly syndrome type 1
* Short rib-polydactyly syndrome type 1
* Short rib-polydactyly syndrome type 2
* Short rib-polydactyly syndrome type 3 - See Short rib-polydactyly syndrome type 3
* Short rib-polydactyly syndrome type 4
* Short rib-polydactyly syndrome type II - See Short rib-polydactyly syndrome type 2
* Short rib-polydactyly syndrome type III - See Short rib-polydactyly syndrome type 3
* Short rib-polydactyly syndrome type IV - See Short rib-polydactyly syndrome type 4
* Short rib-polydactyly syndrome, Beemer-Langer type - See Short rib-polydactyly syndrome type 4
* Short rib-polydactyly syndrome, Majewski type - See Short rib-polydactyly syndrome type 2
* Short rib-polydactyly syndrome, Saldino-Noonan type - See Short rib-polydactyly syndrome type 1
* Short rib-polydactyly syndrome, Verma-Naumoff type - See Short rib-polydactyly syndrome type 3
* Short ribs craniosynostosis polysyndactyly
* Short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect - See Piepkorn Karp Hickok syndrome
* Short stature - deafness - neutrophil dysfunction - dysmorphism - See Short stature deafness neutrophil dysfunction
* Short stature - facial and skeletal anomalies - intellectual disability - macrodontia - See KBG syndrome
* Short stature - hyperkaliemia - acidosis - See Preeyasombat Varavithya syndrome
* Short stature - locking fingers - See Finger locking recurrent with intrauterine growth retardation and proportionate short stature
* Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot - See Richieri Costa Pereira syndrome
* Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot - See Richieri Costa Pereira syndrome
* Short stature - webbed neck - heart disease - See Al Gazali Aziz Salem syndrome
* Short stature - wormian bones - dextrocardia - See Short stature wormian bones dextrocardia
* Short stature abnormal skin pigmentation mental retardation
* Short stature and tall vertebrae - See Dwarfism tall vertebrae
* Short stature contractures hypotonia
* Short stature cranial hyperostosis hepatomegaly
* Short stature deafness neutrophil dysfunction
* Short stature due to a defect in growth hormone receptor or post-receptor pathway - See Growth hormone insensitivity with immunodeficiency
* Short stature due to growth hormone qualitative anomaly - See Kowarski syndrome
* Short stature due to growth hormone resistance - See Laron syndrome
* Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia - See Isolated growth hormone deficiency type 3
* Short stature dysmorphic face pelvic scapula dysplasia
* Short stature heart defect and craniofacial anomalies - See Rommen Mueller Sybert syndrome
* Short stature lumbar malsegmentation and minor facial anomalies - See Lumbar malsegmentation short stature
* Short stature mental retardation eye anomalies
* Short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities - See Pfeiffer Mayer syndrome
* Short stature microcephaly heart defect - See D ercole syndrome
* Short stature microcephaly seizures deafness
* Short stature monodactylous ectrodactyly cleft palate
* Short stature prognathism short femoral necks
* Short stature Robin sequence cleft mandible hand anomalies clubfoot
* Short stature syndrome, Brussels type
* Short stature talipes natal teeth
* Short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice - See Pfeiffer Palm Teller syndrome
* Short stature valvular heart disease
* Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes - See Floating-Harbor syndrome
* Short stature with optic atrophy and Pelger-Huët anomaly syndrome
* Short stature wormian bones dextrocardia
* Short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation - See Megarbane syndrome
* Short stature, brachydactyly, nail dysplasia and mental retardation - See Tonoki syndrome
* Short stature, Brussels type - See Short stature syndrome, Brussels type
* Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies - See KBG syndrome
* Short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges - See Berk-Tabatznik syndrome
* Short stature, cranial hyperostosis, hepatomegaly and diabetes
* Short stature, facial dysmorphism, severe brachydactyly and syndactyly - See Dauwerse-Peters syndrome
* Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay - See SHORT syndrome
* Short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease - See Al Gazali Aziz Salem syndrome
* Short stature, mental retardation and multiple dysmorphisms - See Pfeiffer Kapferer syndrome
* Short stature, pituitary and cerebellar defects and small sella turcica - See Pituitary hormone deficiency, combined 4
* Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot - See Richieri Costa Pereira syndrome
* Short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes - See Abidi X-linked mental retardation syndrome
* Short stature, webbed neck, heart disease - See Al Gazali Aziz Salem syndrome
* Short stature-heart defect-craniofacial anomalies syndrome - See Rommen Mueller Sybert syndrome
* SHORT syndrome
* Short tarsus - absence of lower eyelashes - See Lopes Gorlin syndrome
* Short tarsus absence of lower eyelashes - See Lopes Gorlin syndrome
* Short umbilical cord syndrome - See Limb-body wall complex
* Short/branched-chain acyl-coA dehydrogenase deficiency - See 2-methylbutyryl-CoA dehydrogenase deficiency
* Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing - See SUNCT headache
* Short-limb skeletal dysplasia with SCID - See Achondroplasia and severe combined immunodeficiency
* Short-limb skeletal dysplasia with severe combined immunodeficiency - See Achondroplasia and severe combined immunodeficiency
* Short-rib dysplasia (with or without polydactyly) - See Prieto X-linked mental retardation syndrome
* Shoulder and thorax deformity congenital heart disease
* Shoulder girdle defect mental retardation familial
* Shprintzen omphalocele syndrome
* Shprintzen omphalocele syndrome
* Shprintzen syndrome - See 22q11.2 deletion syndrome
* Shprintzen-Goldberg craniosynostosis syndrome
* Shprintzen-Goldberg marfanoid syndrome - See Shprintzen-Goldberg craniosynostosis syndrome
* Shprintzen-Goldberg omphalocele syndrome - See Shprintzen omphalocele syndrome
* Shprintzen-Goldberg syndrome - See Shprintzen-Goldberg craniosynostosis syndrome
* SHS - See Arthrogryposis distal type 2B
* SHSF2 - See Split hand/foot malformation X-linked
* Shulman syndrome - See Eosinophilic fasciitis
* Shwachman syndrome - See Shwachman-Diamond syndrome
* Shwachman-Bodian syndrome - See Shwachman-Diamond syndrome
* Shwachman-Bodian-Diamond syndrome - See Shwachman-Diamond syndrome
* Shwachman-Diamond syndrome
* Shwartzman phenomenon
* Shy-Drager syndrome - See Multiple system atrophy (MSA) with orthostatic hypotension
* Shy-Magee syndrome - See Central core disease
* SI deficiency - See Congenital sucrase-isomaltase deficiency
*   SIADH - See Syndrome of inappropriate antidiuretic hormone
* Sialadenitis
* Sialadenitis, xanthogranulomatous - See Xanthogranulomatous sialadenitis
* Sialic acid storage disease - See Free sialic acid storage disease
* Sialidase deficiency - See Sialidosis, type II
* Sialidosis type 1 - See Sialidosis type I
* Sialidosis type 2 - See Sialidosis, type II
* Sialidosis type I
* Sialidosis, type II
* Sialoadenitis - See Sialadenitis
* Sialuria - See Sialuria, French type
* Sialuria, Finnish type - See Salla disease
* Sialuria, French type
* Sialuria, infantile form - See Infantile free sialic acid storage disease
* SIANRF - See Spinal muscular atrophy with respiratory distress 1
* Siberian Plague - See Anthrax
* sIBM - See Inclusion body myositis
*   Sicca syndrome - See Sjogren syndrome
* Sickle beta thalassemia
* Sickle cell anemia - See Sickle beta thalassemia
* Sickle cell anemia
* Sickle cell disease - See Sickle beta thalassemia
* Sickle delta beta thalassemia
* Sickling disorder due to hemoglobin S - See Sickle cell anemia
* Sickness of disembarkment - See Mal de debarquement
* SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome - See Susac syndrome
* SICRET syndrome - See Susac syndrome
* SIDDT - See Sudden infant death with dysgenesis of the testes syndrome
* Siderius Hamel syndrome - See Siderius X-linked mental retardation syndrome
* Siderius X-linked mental retardation syndrome
*   Sideroblastic anemia
* Sideroblastic anemia acquired
* Sideroblastic anemia and mitochondrial myopathy
* Sideroblastic anemia pyridoxine-refractory autosomal recessive
* Sideroblastic anemia pyridoxine-responsive autosomal recessive
* Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction - See Pearson syndrome
* Sideroblastic anemia with spinocerebellar ataxia - See Anemia sideroblastic and spinocerebellar ataxia
* Sideroblastic anemia X-linked - See X-linked sideroblastic anemia
* Siderosis
* Sidransky Feinstein Goodman syndrome - See Ichthyosis cheek eyebrow syndrome
* Sidransky-Feinstein-Goodman syndrome - See Ichthyosis cheek eyebrow syndrome
* SIDS - See Sudden infant death syndrome
* Siegler Brewer Carey syndrome
* Siewert syndrome - See Kartagener syndrome
* Signet cell adenocarcinoma - See Diffuse gastric cancer
* Signet ring cell carcinoma - See Diffuse gastric cancer
* Signet ring cell gastric carcinoma - See Diffuse gastric cancer
* Signet ring gastric carcinoma - See Diffuse gastric cancer
* Silengo Lerone Pelizza syndrome
* Silicosiderosis
* Silicosis
* Sillence syndrome
* Silver spastic paraplegia syndrome - See Spastic paraplegia 17
* Silver syndrome - See Spastic paraplegia 17
* Silver-Russell dwarfism - See Russell-Silver syndrome
* Silver-Russell syndrome - See Russell-Silver syndrome
* Silvery hair syndrome
* Simian B virus infection
* Simmond's disease - See Sheehan syndrome
* Simosa cranio facial syndrome
* Simosa craniofacial syndrome - See Simosa cranio facial syndrome
* Simple kaolinosis - See Kaolin pneumoconiosis
* Simpson dysmorphia syndrome - See Simpson-Golabi-Behmel syndrome
* Simpson-Golabi-Behmel syndrome
* Simpson-Golabi-Behmel syndrome type 1 - See Simpson-Golabi-Behmel syndrome
* Simultanagnosia
* Sine scleroderma
* Singapore hemorrhagic fever - See Dengue fever
* Singh Chhaparwal Dhanda syndrome
* Single central maxillary incisor - See Single upper central incisor
* Single upper central incisor
* Single ventricle - See Single ventricular heart
* Single ventricular heart
* Singleton Merten syndrome
* Singleton-Merten dysplasia - See Singleton Merten syndrome
* Singleton-Merten syndrome - See Singleton Merten syndrome
* Sinonasal eosinophilic angiocentric fibrosis - See EAF
* Sinonasal teratocarcinosarcoma (type) - See Malignant Teratocarcinosarcoma
* Sinonasal undifferentiated carcinoma
* Sinus cancer
* Sinus histiocytosis with massive lymphadenopathy - See Rosai-Dorfman disease
* Sinus node disease and myopia
* Sinus of Valsalva aneurysm - See Aneurysm of sinus of Valsalva
* Sinus venosus ASD - See Atrial septal defect sinus venosus
* Sinus venosus atrial septal defects - See Atrial septal defect sinus venosus
* Sinusitis-infertility syndrome - See Young syndrome
* SIOD - See Schimke immunoosseous dysplasia
* Sipple syndrome - See Multiple endocrine neoplasia type 2A
* Sirenomelia
* Sirenomelia sequence - See Sirenomelia
* Sirenomelus - See Sirenomelia
* Sitosterolemia
* Situs ambiguous - See Heterotaxy
* Situs ambiguus - See Heterotaxy
* Situs inversus
* Situs inversus totalis - See Situs inversus
* Situs inversus totalis - See Dextrocardia with situs inversus
* Situs inversus totalis with cystic dysplasia of kidneys and pancreas
* Situs inversus viscerum - See Situs inversus
* Situs inversus with levocardia - See Isolated levocardia
* Situs inversus, complex cardiac defects, and splenic defects, X-linked - See X-linked visceral heterotaxy 1
* Situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs ,severe intrauterine growth retardation, and oligohydramnios - See Situs inversus totalis with cystic dysplasia of kidneys and pancreas
* SIV - See Situs inversus
* Sixth cranial nerve palsy - See Sixth nerve palsy
* Sixth nerve palsy
* SJA syndrome - See Schwartz Jampel syndrome type 1
* Sjogren Larsson syndrome - See Sjogren-Larsson syndrome
*   Sjogren syndrome
*   Sjogren-Gougerot syndrome - See Sjogren syndrome
* Sjogren-Larsson syndrome
* Sjögren-Larsson syndrome - See Sjogren-Larsson syndrome
* Sjogren-Larsson-like ichthyosis without CNS or eye involvement - See Sjogren-Larsson-like syndrome
* Sjogren-Larsson-like syndrome
* Sjogren's syndrome, juvenile, secondary to autoimmune disease
* SJS - See Schwartz Jampel syndrome type 1
* SJS - See Stevens-Johnson syndrome
* SJS1 - See Schwartz Jampel syndrome type 1
* SJS2 - See Stuve-Wiedemann syndrome
* Skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties - See Pointer syndrome
* Skeletal abnormalities, Cutis laxa, craniostenosis, Ambiguous genitalia, Retardation, and Facial abnormalities - See SCARF syndrome
* Skeletal dysplasia - brachydactyly - See Brachydactyly Mononen type
* Skeletal dysplasia - epilepsy - short stature - See Gurrieri syndrome
* Skeletal dysplasia - intellectual disability - See Mental retardation skeletal dysplasia abducens palsy
* Skeletal dysplasia brachydactyly - See Brachydactyly Mononen type
* Skeletal dysplasia Jequier-Kozlowski type - See Spondylometaphyseal dysplasia Kozlowski type
* Skeletal dysplasia lethal with gracile bones - See Gracile bone dysplasia
* Skeletal dysplasia orofacial anomalies
* Skeletal dysplasia related to campomelic dysplasia - See Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
* Skeletal dysplasia with amelogenesis imperfecta and platyspondyly - See Verloes Bourguignon syndrome
* Skeletal dysplasia, Greenberg type - See Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
* Skeletal dysplasia, San Diego type
*   Skeletal dysplasias
* Skeleto cardiac syndrome with thrombocytopenia
* Skeleton skin brain syndrome - See Severe achondroplasia with developmental delay and acanthosis nigricans
* Skin anthrax - See Cutaneous anthrax
*   Skin cancer
* Skin cancer, non melanoma, childhood
* Skin creases, multiple benign ring-shaped, of limbs - See Michelin tire baby syndrome
* Skin fragility woolly hair syndrome
* Skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation - See Mastocytosis cutaneous with short stature conductive hearing loss and microtia
* Skin peeling syndrome - See Peeling skin syndrome
* Slavotinek Pike Mills Hurst syndrome
* SLC35A1-CDG (CDG-IIf)
* SLC35A2-CDG
* SLC35C1-CDG - See SLC35C1-CDG (CDG-IIc)
* SLC35C1-CDG (CDG-IIc)
* SLC35D1-CDG - See Schneckenbecken dysplasia
* SLC4A1-associated distal renal tubular acidosis - See Renal tubular acidosis, distal, autosomal dominant
* SLC4A1-associated distal renal tubular acidosis
* SLC6A8 deficiency - See X-linked creatine deficiency
*   SLE - See Lupus
* Sleeping sickness - See Trypanosomiasis, Human East-African
*   Slipped capital femoral epiphysis
* SLK - See Superior limbic keratoconjunctivitis
* SLO syndrome - See Smith-Lemli-Opitz syndrome
* SLOS - See Smith-Lemli-Opitz syndrome
* Slow channel congenital myasthenic syndrome - See Slow-channel congenital myasthenic syndrome
* Slow-channel congenital myasthenic syndrome
* SLS - See Sjogren-Larsson syndrome
* SLSD with SCID - See Achondroplasia and severe combined immunodeficiency
* SLSJ syndrome - See MPI-CDG (CDG-Ib)
* SLSJ-COX deficiency - See Leigh syndrome, French Canadian type
* SLSN - See Senior Loken Syndrome
* Slti Salem syndrome
* Sly disease - See Mucopolysaccharidosis type VII
* Sly syndrome - See Mucopolysaccharidosis type VII
* SM syndrome - See Singleton Merten syndrome
* SMA - See Multiple system atrophy
* SMA 3 - See Spinal muscular atrophy type 3
* SMA 4 - See Spinal muscular atrophy type 4
* SMA II - See Spinal muscular atrophy type 2
* SMA type 3 - See Spinal muscular atrophy type 3
* SMA, infantile acute form - See Spinal muscular atrophy 1
* SMA1 - See Spinal muscular atrophy 1
* SMA1 with congenital bone fractures - See Spinal muscular atrophy type 1 with congenital bone fractures
* SMA2 - See Spinal muscular atrophy type 2
* SMA3 - See Spinal muscular atrophy type 3
* SMA-I - See Spinal muscular atrophy 1
* SMA-II - See Spinal muscular atrophy type 2
* SMA-III - See Spinal muscular atrophy type 3
* Small benign fibrovascular tumor of the dermal part of the hair disk - See Familial multiple trichodiscomas
* Small bowel tumors - See Small intestine cancer
* Small cell bladder cancer - See Small cell carcinoma of the bladder
* Small cell bladder carcinoma - See Small cell carcinoma of the bladder
* Small cell carcinoma of the bladder
* Small cell carcinoma of the ovary - See Ovarian small cell carcinoma
* Small cell carcinoma of the urinary bladder - See Small cell carcinoma of the bladder
* Small cell lung cancer, childhood
* Small cell lung cancer, adult
* Small cell variant of anaplastic large cell lymphoma - See Anaplastic small cell lymphoma
* Small cleaved cell follicular lymphoma - See Lymphoma, small cleaved-cell, follicular
* Small cleaved-cell, diffuse lymphoma - See Lymphoma, small cleaved-cell, diffuse
* Small infarctions of cochlear, retinal and encephalic tissue - See Susac syndrome
* Small intestinal atresia - See Jejunal atresia
* Small intestine atresia - See Atresia of small intestine
* Small intestine cancer
* Small intestine cancer, childhood
* Small lymphocytic lymphoma - See Squamous cell carcinoma of the head and neck
* Small non-cleaved cell lymphoma - See Burkitt lymphoma
* Small non-cleaved cell lymphoma
* Small noncleaved-cell lymphoma - See Small non-cleaved cell lymphoma
* Small patella syndrome
* Small patella syndrome - See Stiff person syndrome
* Small pox - See Kernicterus
* Smallpox
* SMARD1 - See Spinal muscular atrophy with respiratory distress 1
* SMAX2 - See Arthrogryposis multiplex congenita, distal, X-linked
* SMCD - See Systemic mastocytosis
* SMD - See Spondyloepimetaphyseal dysplasia Strudwick type
* SMD Axial - See Axial spondylometaphyseal dysplasia
* SMD Kozlowski type - See Spondylometaphyseal dysplasia Kozlowski type
* SMD with with bowed forearms and facial dysmorphism - See Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
* SMD-CRD - See Spondylometaphyseal dysplasia with cone-rod dystrophy
* SME - See Dravet syndrome
* SMECE - See Sclerosing mucoepidermoid carcinoma with eosinophilia
* Smed short limb-abnormal calcification type - See Spondylometaepiphyseal dysplasia short limb-hand type
* SMED short limb-hand type - See Spondylometaepiphyseal dysplasia short limb-hand type
* SMED Strudwick type - See Spondyloepimetaphyseal dysplasia Strudwick type
* SMED type 1 - See Spondyloepimetaphyseal dysplasia Strudwick type
* SMED type 2 - See Spondylometaepiphyseal dysplasia short limb-hand type
* SMED-SL - See Spondylometaepiphyseal dysplasia short limb-hand type
* SMED-SL/AC - See Spondylometaepiphyseal dysplasia short limb-hand type
* SMEI - See Dravet syndrome
* Smith Fineman Myers syndrome - See Mental retardation Smith Fineman Myers type
* Smith Fineman Myers syndrome 1 - See Mental retardation-hypotonic facies syndrome X-linked, 1
* Smith Lemli Opitz syndrome - See Smith-Lemli-Opitz syndrome
* Smith McCort dysplasia
* Smith-Fineman-Myers syndrome - See Mental retardation Smith Fineman Myers type
* Smith-Lemli-Opitz syndrome
* Smith-Magenis syndrome
* Smith-McCort dwarfism - See Smith McCort dysplasia
* Smith-McCort dysplasia - See Smith McCort dysplasia
* SMMCI - See Single upper central incisor
* SMNA - See Spinocerebellar ataxia 18
* SMRXS - See Mental retardation X-linked syndromic 11
* SMS - See Smith-Magenis syndrome
* SNDI - See Striatonigral degeneration infantile
* SNE - See Leigh syndrome
* Sneddon syndrome
* Sneddon's syndrome - See Sneddon syndrome
* Sneezing from light exposure - See Autosomal dominant compelling helio ophthalmic outburst syndrome
* Snowflake degeneration in hereditary vitreoretinal degeneration - See Snowflake vitreoretinal degeneration
* Snowflake vitreoretinal degeneration
* Snub-nosed type of dwarfism - See Dwarfism Levi type
* SNUC - See Sinonasal undifferentiated carcinoma
* Snyder-Robinson syndrome
* SOD - See Septo-optic dysplasia
* Sodium channel muscle disease - See Hyperkalemic periodic paralysis
* Soft tissue sarcoma
* Soft tissue sarcoma childhood
* Sohval Soffer syndrome
* Solitary fibrous tumor - See Hemangiopericytoma
* Solitary median maxillary central incisor - See Single upper central incisor
* Solitary median maxillary central incisor syndrome - See Single upper central incisor
* Solomon syndrome - See Linear nevus sebaceous syndrome
* Somatomedin end-organ insensitivity to - See Insulin-like growth factor 1 resistance to
* Somatomedin-c resistance to - See Insulin-like growth factor 1 resistance to
* Somatomedin-secreting carcinoid - See Somatostatinoma
* Somatostatinoma
* Somatostatin-secreting pancreatic neoplasm - See Somatostatinoma
* Somatotroph adenoma - See Acromegaly
* Somatotropic adenoma - See Acromegaly
* Somatotropinoma - See Acromegaly
* Somerville-Van Der AA syndrome - See 7q11.23 duplication syndrome
* Sommer Hines syndrome - See Tetramelic monodactyly
* Sommer Rathbun Battles syndrome - See Aniridia renal agenesis psychomotor retardation
* Sommer-Hines syndrome - See Tetramelic monodactyly
* Sommer-Rathbun-Battles syndrome - See Aniridia renal agenesis psychomotor retardation
* Sommer-Young-Wee-Frye syndrome - See Craniofacial deafness hand syndrome
* Sondheimer syndrome - See Coarse face hypotonia constipation
* Sonoda syndrome
* SOPH syndrome - See Short stature with optic atrophy and Pelger-Huët anomaly syndrome
* Sorensen syndrome - See Stampe sorensen syndrome
* Sorsby syndrome - See Coloboma of macula with type B brachydactyly
* Sorsby's pseudoinflammatory macular dystrophy - See Fundus dystrophy, pseudoinflammatory, of Sorsby
* SOS1 gene related Noonan syndrome - See Noonan syndrome 4
* Sosby syndrome
* SOST - See Sclerosteosis
* Sotos syndrome
* South american blastomycosis - See Paracoccidioidomycosis
* South American pemphigus - See Pemphigus and fogo selvagem
*   South American trypanosomiasis - See Chagas disease
* Spahr type Metaphyseal chondrodysplasia - See Metaphyseal chondrodysplasia Spahr type
* Sparse hair and mental retardation - See Nicolaides Baraitser syndrome
* Sparse hair ptosis mental retardation
* Sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay - See Crumpled helices and small mouth
* Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation - See Thumb deformity, alopecia, pigmentation anomaly
* Spasmodic dysphonia
* Spasmodic torticollis - See Cervical dystonia
* Spastic angina with healthy coronary artery
* Spastic ataxia - corneal dystrophy - See Mousa Al din Al Nassar syndrome
* Spastic ataxia - ocular anomalies - See Mousa Al din Al Nassar syndrome
* Spastic ataxia 4, autosomal recessive - See Autosomal recessive spastic ataxia 4
* Spastic ataxia Charlevoix-Saguenay type
* Spastic ataxia of Charlevoix-Saguenay - See Spastic ataxia Charlevoix-Saguenay type
* Spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs - See Mousa Al din Al Nassar syndrome
* Spastic diplegia cerebral palsy
* Spastic diplegia infantile type
* Spastic diplegia, infantile type - See Spastic diplegia infantile type
* Spastic dysphonia - See Spasmodic dysphonia
* Spastic gait type 2 - See Spastic paraplegia 2
* Spastic hemiplegia cerebral palsy - See Cerebral palsy spastic hemiplegic
* Spastic hemiplegic cerebral palsy - See Cerebral palsy spastic hemiplegic
* Spastic monoplegia cerebral palsy - See Cerebral palsy spastic monoplegic
* Spastic monoplegic cerebral palsy - See Cerebral palsy spastic monoplegic
* Spastic paralysis, infantile onset ascending - See Infantile-onset ascending hereditary spastic paralysis
* Spastic paraparesis
* Spastic paraparesis - deafness - See Wells-Jankovic syndrome
* Spastic paraparesis - vitiligo - premature graying - characteristic facies - See Spastic paraplegia 23
* Spastic paraparesis childhood-onset with distal muscle wasting - See Spastic paraplegia 20
* Spastic paraparesis type 2 - See Spastic paraplegia 2
* Spastic paraplegia - epilepsy - intellectual disability - See Spastic paraplegia epilepsy mental retardation
* Spastic paraplegia - facial-cutaneous lesions - See Spastic paraplegia facial cutaneous lesions
* Spastic paraplegia - intellectual deficit - thin corpus callosum - See Spastic paraplegia 11
* Spastic paraplegia - intellectual disability - thin corpus callosum - See Spastic paraplegia 11
* Spastic paraplegia - nephritis - deafness - See Fitzsimmons Walson Mellor syndrome
* Spastic paraplegia - retinal degeneration - See Spastic paraplegia 15
* Spastic paraplegia 1
* Spastic paraplegia 10
* Spastic paraplegia 11
* Spastic paraplegia 12
* Spastic paraplegia 13
* Spastic paraplegia 14
* Spastic paraplegia 15
* Spastic paraplegia 16
* Spastic paraplegia 17
* Spastic paraplegia 18
* Spastic paraplegia 19
* Spastic paraplegia 2
* Spastic paraplegia 20
* Spastic paraplegia 23
* Spastic paraplegia 24
* Spastic paraplegia 25
* Spastic paraplegia 26
* Spastic paraplegia 29
* Spastic paraplegia 3
* Spastic paraplegia 31
* Spastic paraplegia 31, autosomal dominant - See Spastic paraplegia 31
* Spastic paraplegia 35, autosomal recessive - See Fatty acid hydroxylase-associated neurodegeneration
* Spastic paraplegia 39
* Spastic paraplegia 4
* Spastic paraplegia 51
* Spastic paraplegia 51, autosomal recessive - See Spastic paraplegia 51
* Spastic paraplegia 5A
* Spastic paraplegia 5B
* Spastic paraplegia 6
* Spastic paraplegia 7
* Spastic paraplegia 8
* Spastic paraplegia 9
* Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation
* Spastic paraplegia and pigmentary abnormalities - See Spastic paraplegia 23
* Spastic paraplegia and retinal degeneration - See Spastic paraplegia 15
* Spastic paraplegia associated with brachydactyly type E - See Fitzsimmons-Guilbert syndrome
* Spastic paraplegia autosomal recessive Troyer type - See Spastic paraplegia 20
* Spastic paraplegia epilepsy mental retardation
* Spastic paraplegia facial cutaneous lesions
* Spastic paraplegia neuropathy poikiloderma
* Spastic paraplegia type 2 - See Spastic paraplegia 2
* Spastic paraplegia type 5A - See Spastic paraplegia 5A
* Spastic paraplegia vitiligo premature graying and characteristic facies - See Spastic paraplegia 23
* Spastic paraplegia with amyotrophy of hands and feet - See Spastic paraplegia 17
* Spastic paraplegia with iron deposits in basal ganglia - See Arena syndrome
* Spastic paraplegia with precocious puberty
* Spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy - See Fitzsimmons Walson Mellor syndrome
* Spastic paraplegia-amyotrophy of hands and feet - See Spastic paraplegia 17
* Spastic paresis glaucoma mental retardation
* Spastic quadriplegia cerebral palsy - See Cerebral palsy spastic quadriplegic
* Spastic quadriplegia retinitis pigmentosa mental retardation
* Spastic quadriplegic cerebral palsy - See Cerebral palsy spastic quadriplegic
* Spastic tetraplegia cerebral palsy - See Cerebral palsy spastic quadriplegic
* Spasticity mental retardation
* Spasticity multiple exostoses
* SPAX4 - See Autosomal recessive spastic ataxia 4
* SPD - See Syndactyly type 2
* Spear syndrome - See Microphthalmia syndromic 9
* Specific antibody deficiency
* Specific granule deficiency - See Neutrophil-specific granule deficiency
* Specific language impairment - See Developmental dysphasia familial
* Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering - See Epidermolysis bullosa simplex with mottled pigmentation
* Speech and language disorder with orofacial dyspraxia - See Brain lung thyroid syndrome
* Speech-language disorder type 1 - See Brain lung thyroid syndrome
* SPEL syndrome - See Syndactyly-polydactyly-earlobe syndrome
* Spellacy Gibbs Watts syndrome - See Connective tissue dysplasia Spellacy type
* Spellacy-Gibbs-Watts syndrome - See Connective tissue dysplasia Spellacy type
* SPENCD - See Spondyloenchondrodysplasia
* SPERM - See Spastic paraplegia epilepsy mental retardation
* Spermatogenesis arrest
* SPERMATOGENIC FAILURE 5 - Another name for Macrozoospermia
* SPG - See Spastic paraplegia 9
* SPG 23 - See Spastic paraplegia 23
* SPG1 - See Spastic paraplegia 1
* SPG10 - See Spastic paraplegia 10
* SPG11 - See Spastic paraplegia 11
* SPG12 - See Spastic paraplegia 12
* SPG13 - See Spastic paraplegia 13
* SPG14 - See Spastic paraplegia 14
* SPG15 - See Spastic paraplegia 15
* SPG16 - See Spastic paraplegia 16
* SPG17 - See Spastic paraplegia 17
* SPG18 - See Spastic paraplegia 18
* SPG19 - See Spastic paraplegia 19
* SPG2 - See Spastic paraplegia 2
* SPG20 - See Spastic paraplegia 20
* SPG21 - See Spastic paraplegia 12
* SPG23 - See Spastic paraplegia 23
* SPG24 - See Spastic paraplegia 24
* SPG25 - See Spastic paraplegia 25
* SPG26 - See Spastic paraplegia 26
* SPG29 - See Spastic paraplegia 29
* SPG3 - See Spastic paraplegia 3
* SPG31 - See Spastic paraplegia 31
* SPG35 - See Fatty acid hydroxylase-associated neurodegeneration
* SPG39 - See Spastic paraplegia 39
* SPG3A - See Spastic paraplegia 3
* SPG4 - See Spastic paraplegia 4
* SPG51 - See Spastic paraplegia 51
* SPG5A - See Spastic paraplegia 5A
* SPG5B - See Spastic paraplegia 5B
* SPG6 - See Spastic paraplegia 6
* SPG7 - See Spastic paraplegia 7
* SPG8 - See Spastic paraplegia 8
* SPG9 - See Spastic paraplegia 9
* SPGF5 - Another name for Macrozoospermia
* Sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate - See Sakoda complex
* Spherocytic anemia - See Hereditary spherocytosis
* Spheroid body myopathy
* Spherophakia - brachymorphia - See Weill-Marchesani syndrome
* Spherophakia-brachymorphia syndrome - See Weill-Marchesani syndrome
* Sphingolipidoses - See Sphingolipidosis
* Sphingolipidosis
* Sphingolipidosis 1 - See Gaucher disease
* Sphingolipidosis, Tay-Sachs - See Tay-Sachs disease
* Sphingomyelin lipidosis - See Niemann-Pick disease
* Sphingomyelinase deficiency - See Niemann-Pick disease
* Spiegler-Brooke syndrome - See Brooke-Spiegler syndrome
* Spielmeyer Sjogren disease - See Batten disease
* Spielmeyer-Vogt disease - See Batten disease
* Spielmeyer-Vogt disease
* Spina bifida
* Spina bifida hypospadias
*   Spina bifida occulta
* Spinal and bulbar muscular atrophy - See Kennedy disease
* Spinal arachnoiditis - See Arachnoiditis
* Spinal arteriovenous metameric syndrome - See Cobb syndrome
* Spinal atrophy - ophthalmoplegia - pyramidal syndrome - See Spinal atrophy ophthalmoplegia pyramidal syndrome
* Spinal atrophy ophthalmoplegia pyramidal syndrome
* Spinal bulbar motor neuropathy
* Spinal cord neoplasm
* Spinal CSF leak - See Cerebrospinal fluid leak
* Spinal disc herniation with autosomal recessive spastic paraplegia - See Spastic paraplegia 25
* Spinal dysostosis type Anhalt
* Spinal dysraphism - See Spina bifida
* Spinal intradural arachnoid cysts
* Spinal meningioma - See Meningioma, spinal
* Spinal muscular atrophy
* Spinal muscular atrophy 1
* Spinal muscular atrophy 4 - See Spinal muscular atrophy type 4
* Spinal muscular atrophy juvenile nonprogressive - See Monomelic amyotrophy
* Spinal muscular atrophy Ryukyuan type
* Spinal muscular atrophy type 1 with congenital bone fractures
* Spinal muscular atrophy type 2
* Spinal muscular atrophy type 3
* Spinal muscular atrophy type 4
* Spinal muscular atrophy type II - See Spinal muscular atrophy type 2
* Spinal muscular atrophy with arthrogryposis - See Arthrogryposis multiplex congenita, distal, X-linked
* Spinal muscular atrophy with respiratory distress 1
* Spinal muscular atrophy, adult form - See Spinal muscular atrophy type 4
* Spinal muscular atrophy, distal, autosomal recessive, 1 - See Spinal muscular atrophy with respiratory distress 1
* Spinal muscular atrophy, Jerash type - See Neuropathy, distal hereditary motor, Jerash type
* Spinal muscular atrophy, mild childhood and adolescent form - See Spinal muscular atrophy type 3
* Spinal muscular atrophy, proximal, adult, autosomal recessive - See Spinal muscular atrophy type 4
* Spinal shock
* Spindle cell rhabdomyosarcomas (type of ERMS) - See Rhabdomyosarcoma embryonal
* Spine rigid cardiomyopathy
* Spinobulbar muscular atrophy - See Kennedy disease
* Spinocerebellar ataxia
* Spinocerebellar ataxia - amyotrophy - deafness - See Gemignani syndrome
* Spinocerebellar ataxia - dysmorphism - See Spinocerebellar ataxia with dysmorphism
* Spinocerebellar ataxia 1
* Spinocerebellar ataxia 10
* Spinocerebellar ataxia 11
* Spinocerebellar ataxia 12
* Spinocerebellar ataxia 13
* Spinocerebellar ataxia 14
* Spinocerebellar ataxia 15
* Spinocerebellar ataxia 16 (formerly) - See Spinocerebellar ataxia 15
* Spinocerebellar ataxia 16q22-linked - See Spinocerebellar ataxia 31
* Spinocerebellar ataxia 17
* Spinocerebellar ataxia 18
* Spinocerebellar ataxia 19/22 - See Hereditary ataxia
* Spinocerebellar ataxia 2
* Spinocerebellar ataxia 20
* Spinocerebellar ataxia 21
* Spinocerebellar ataxia 23
* Spinocerebellar ataxia 24 (formerly) - See Spinocerebellar ataxia autosomal recessive 4
* Spinocerebellar ataxia 25
* Spinocerebellar ataxia 26
* Spinocerebellar ataxia 27
* Spinocerebellar ataxia 28
* Spinocerebellar ataxia 29
* Spinocerebellar ataxia 3
* Spinocerebellar ataxia 30
* Spinocerebellar ataxia 31
* Spinocerebellar ataxia 34
* Spinocerebellar ataxia 35 - See Hereditary ataxia
* Spinocerebellar ataxia 36 - See Hereditary ataxia
* Spinocerebellar ataxia 37 - See Hereditary ataxia
* Spinocerebellar ataxia 38 - See Hereditary ataxia
* Spinocerebellar ataxia 4
* Spinocerebellar ataxia 40 - See Hereditary ataxia
* Spinocerebellar ataxia 5
* Spinocerebellar ataxia 6 - See Spinocerebellar ataxia type 6
* Spinocerebellar ataxia 7
* Spinocerebellar ataxia 8
* Spinocerebellar ataxia 8 (formerly) - See Infantile onset spinocerebellar ataxia
* Spinocerebellar ataxia 9
* Spinocerebellar ataxia and erythrokeratodermia - See Spinocerebellar ataxia 34
* Spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness - See Gemignani syndrome
* Spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy - See Spinocerebellar ataxia 4
* Spinocerebellar ataxia autosomal recessive 1
* Spinocerebellar ataxia autosomal recessive 3
* Spinocerebellar ataxia autosomal recessive 4
* Spinocerebellar ataxia autosomal recessive 5
* Spinocerebellar ataxia autosomal recessive 6
* Spinocerebellar ataxia autosomal recessive 7
* Spinocerebellar ataxia autosomal recessive 8
* Spinocerebellar ataxia autosomal recessive with axonal neuropathy
* Spinocerebellar ataxia Cuban type - See Spinocerebellar ataxia 2
* Spinocerebellar ataxia infantile with sensory neuropathy - See Infantile onset spinocerebellar ataxia
* Spinocerebellar ataxia type 1 - See Spinocerebellar ataxia 1
* Spinocerebellar ataxia type 1 with axonal neuropathy - See Spinocerebellar ataxia autosomal recessive with axonal neuropathy
* Spinocerebellar ataxia type 10 - See Spinocerebellar ataxia 10
* Spinocerebellar ataxia type 11 - See Spinocerebellar ataxia 11
* Spinocerebellar ataxia type 12 - See Spinocerebellar ataxia 12
* Spinocerebellar ataxia type 13 - See Spinocerebellar ataxia 13
* Spinocerebellar ataxia type 14 - See Spinocerebellar ataxia 14
* Spinocerebellar ataxia type 15 - See Spinocerebellar ataxia 15
* Spinocerebellar ataxia type 15/16 - See Spinocerebellar ataxia 15
* Spinocerebellar ataxia type 17 - See Spinocerebellar ataxia 17
* Spinocerebellar ataxia type 18 - See Spinocerebellar ataxia 18
* Spinocerebellar ataxia type 19/22 - See Hereditary ataxia
* Spinocerebellar ataxia type 2 - See Spinocerebellar ataxia 2
* Spinocerebellar ataxia type 20 - See Spinocerebellar ataxia 20
* Spinocerebellar ataxia type 21 - See Spinocerebellar ataxia 12
* Spinocerebellar ataxia type 21 - See Spinocerebellar ataxia 21
* Spinocerebellar ataxia type 23 - See Spinocerebellar ataxia 23
* Spinocerebellar ataxia type 25 - See Spinocerebellar ataxia 25
* Spinocerebellar ataxia type 26 - See Spinocerebellar ataxia 26
* Spinocerebellar ataxia type 27 - See Spinocerebellar ataxia 27
* Spinocerebellar ataxia type 28 - See Spinocerebellar ataxia 28
* Spinocerebellar ataxia type 29 - See Spinocerebellar ataxia 29
* Spinocerebellar ataxia type 3 - See Saethre-Chotzen syndrome
* Spinocerebellar ataxia type 30 - See Spinocerebellar ataxia 30
* Spinocerebellar ataxia type 31 - See Spinocerebellar ataxia 31
* Spinocerebellar ataxia type 34 - See Spinocerebellar ataxia 34
* Spinocerebellar ataxia type 4 - See Spinocerebellar ataxia 4
* Spinocerebellar ataxia type 5 - See Spinocerebellar ataxia 5
* Spinocerebellar ataxia type 6
* Spinocerebellar ataxia type 7 - See Spinocerebellar ataxia 7
* Spinocerebellar ataxia type 8 - See Spinocerebellar ataxia 8
* Spinocerebellar ataxia type 9 - See Spinocerebellar ataxia 9
* Spinocerebellar ataxia with axonal neuropathy type 2 - See Spinocerebellar ataxia autosomal recessive 1
* Spinocerebellar ataxia with blindness and deafness - See Spinocerebellar ataxia autosomal recessive 3
* Spinocerebellar ataxia with dysmorphism
* Spinocerebellar ataxia with saccadic intrusions - See Spinocerebellar ataxia autosomal recessive 4
* Spinocerebellar ataxia with slow eye movements - See Spinocerebellar ataxia 2
* Spinocerebellar ataxia X-linked type 2
* Spinocerebellar ataxia X-linked type 3
* Spinocerebellar ataxia X-linked type 4
* Spinocerebellar ataxia, autosomal recessive 2 - See Cerebelloparenchymal disorder 3
* Spinocerebellar ataxia, Friedreich - See Friedreich ataxia
* Spinocerebellar atrophy 1 - See Spinocerebellar ataxia 1
* Spinocerebellar atrophy 2 - See Spinocerebellar ataxia 2
* Spinocerebellar atrophy type 3 - See Spinocerebellar ataxia 3
* Spinocerebellar degeneration - corneal dystrophy - See Spinocerebellar degeneration and corneal dystrophy
* Spinocerebellar degeneration and corneal dystrophy
* Spinocerebellar degeneration corneal dystrophy - See Spinocerebellar degeneration and corneal dystrophy
* Spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia - See Mousa Al din Al Nassar syndrome
* Spinocerebellar degeneration with slow eye movements - See Spinocerebellar ataxia 2
* Spinocerebellar degenerescence book type
* Spinopontine atrophy - See Spinocerebellar ataxia 3
* Spirochaetales Infections - See Spirochetes disease
* Spirochetes disease
* Spirurida Infections
* Spitz naevus - See Spitz nevus
* Spitz nevi - See Spitz nevus
* Spitz nevus
* Spitzer-Weinstein syndrome - See Pseudohypoaldosteronism type 2
* Spleen neoplasm
* Splenic agenesis syndrome - See Ivemark syndrome
* Splenic infarcts
* Splenic ptosis - See Wandering spleen
* Splenogonadal fusion - limb defects - micrognathia - See Splenogonadal fusion limb defects micrognatia
* Splenogonadal fusion limb defects micrognatia
* Splenogonadal fusion limb defects syndrome - See Splenogonadal fusion limb defects micrognatia
* Splenomegaly
* Splenomegaly-neutropenia-rheumatoid arthritis syndrome - See Felty's syndrome
* Splenoptosis - See Wandering spleen
* Split cord malformation
* Split foot deformity - mandibulofacial dysostosis - See Patterson Stevenson syndrome
* Split hand - urinary anomalies - spina bifida - See Split hand urinary anomalies spina bifida
* Split hand deformity 1 - See Split hand foot malformation 1
* Split hand deformity-mandibulofacial dysostosis - See Nager acrofacial dysostosis
* Split hand foot anomaly - X-linked - See Split hand/foot malformation X-linked
* Split hand foot deformity 1 - See Split hand foot malformation 1
* Split hand foot deformity 2 - See Split hand/foot malformation X-linked
* Split hand foot malformation
* Split hand foot malformation 1
* Split hand malformation1 - See Split hand foot malformation 1
* Split hand nystagmus syndrome - See Split hand split foot nystagmus
* Split hand split foot malformation autosomal recessive
* Split hand split foot mandibular hypoplasia - See Acrorenal mandibular syndrome
* Split hand split foot nystagmus
* Split hand urinary anomalies spina bifida
* Split hand/foot malformation with long bone deficiency - See Cleft hand absent tibia
* Split hand/foot malformation X-linked
* Split hand/split foot - mandibular hypoplasia - See Acrorenal mandibular syndrome
* Split hand/split foot - nystagmus - See Split hand split foot nystagmus
* Split hand-split foot malformation - See Split hand foot malformation
* Split spinal cord malformation - See Split cord malformation
* Split-foot deformity with ectrodactyly and mandibulofacial dysostosis - See Patterson Stevenson syndrome
* Split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects - See Split hand urinary anomalies spina bifida
* Split-hand/foot malformation associated with aplasia of long bones - See Cleft hand absent tibia
* Split-hand/foot malformation with long bone deficiency - See Cleft hand absent tibia
* SPM - See X-linked dominant scapuloperoneal myopathy
* SPMD - See MYH7-related scapuloperoneal myopathy
* SPMM - See MYH7-related scapuloperoneal myopathy
* Sponastrime dysplasia - See Spondyloepimetaphyseal dysplasia Sponastrime type
* Spondylar and nasal alterations with striated metaphyses - See Spondyloepimetaphyseal dysplasia Sponastrime type
* Spondylarthropathy
* Spondylo camptodactyly syndrome - See Spondylocamptodactyly
* Spondylocamptodactyly
* Spondylocamptodactyly syndrome - See Spondylocamptodactyly
* Spondylocarpotarsal syndrome - See Spondylocarpotarsal synostosis syndrome
* Spondylocarpotarsal synostosis - See Spondylocarpotarsal synostosis syndrome
* Spondylocarpotarsal synostosis syndrome
* Spondylocostal dysostosis 1
* Spondylocostal dysostosis 1 autosomal recessive - See Spondylocostal dysostosis 1
* Spondylocostal dysostosis 2
* Spondylocostal dysostosis 2 autosomal recessive - See Spondylocostal dysostosis 2
* Spondylocostal dysostosis 3
* Spondylocostal dysostosis 4
* Spondylocostal dysostosis 4 autosomal dominant - See Spondylocostal dysostosis 4
* Spondylocostal dysplasia dominant form - See Spondylocostal dysostosis 4
* Spondylodysplasia with pure brachyolmia - See Brachyolmia type 1 Hobaek type
* Spondyloenchondrodysplasia
* Spondyloenchondromatosis - See Spondyloenchondrodysplasia
* Spondylo-epimetaphyseal dysplasia - See Spondyloepimetaphyseal dysplasia X-linked
* Spondyloepimetaphyseal dysplasia - hypotrichosis - See Spondyloepimetaphyseal dysplasia with hypotrichosis
* Spondyloepimetaphyseal dysplasia congenita, Strudwick type - See Spondyloepimetaphyseal dysplasia Strudwick type
* Spondyloepimetaphyseal dysplasia Genevieve type
* Spondyloepimetaphyseal dysplasia joint laxity
* Spondyloepimetaphyseal dysplasia Matrilin-3 related
* Spondyloepimetaphyseal dysplasia Matrilin-3 type - See Spondyloepimetaphyseal dysplasia Matrilin-3 related
* Spondyloepimetaphyseal dysplasia micromelic
* Spondyloepimetaphyseal dysplasia Missouri type
* Spondyloepimetaphyseal dysplasia Shohat type
* Spondyloepimetaphyseal dysplasia Sponastrime type
* Spondyloepimetaphyseal dysplasia Strudwick type
* Spondyloepimetaphyseal dysplasia type 2 - See Spondylometaepiphyseal dysplasia short limb-hand type
* Spondyloepimetaphyseal dysplasia with hypotrichosis
* Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type - See Spondyloepimetaphyseal dysplasia with multiple dislocations
* Spondyloepimetaphyseal dysplasia with joint laxity - See Spondyloepimetaphyseal dysplasia joint laxity
* Spondyloepimetaphyseal dysplasia with joint laxity type 1 - See Spondyloepimetaphyseal dysplasia joint laxity
* Spondyloepimetaphyseal dysplasia with joint laxity type 2 - See Spondyloepimetaphyseal dysplasia with multiple dislocations
* Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type - See Spondyloepimetaphyseal dysplasia with multiple dislocations
* Spondyloepimetaphyseal dysplasia with multiple dislocations
* Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type - See Spondyloepimetaphyseal dysplasia with multiple dislocations
* Spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type - See Spondyloepimetaphyseal dysplasia with multiple dislocations
* Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type - See Spondyloepimetaphyseal dysplasia with multiple dislocations
* Spondyloepimetaphyseal dysplasia X-linked
* Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
* Spondyloepimetaphyseal dysplasia, Aggrecan type
* Spondyloepimetaphyseal dysplasia, anauxetic type - See Anauxetic dysplasia
* Spondyloepimetaphyseal dysplasia, Geneviève type - See Spondyloepimetaphyseal dysplasia Genevieve type
* Spondyloepimetaphyseal dysplasia, matrilin-3 type - See Spondyloepimetaphyseal dysplasia Matrilin-3 related
* Spondyloepimetaphyseal dysplasia, Menger type - See Anauxetic dysplasia
* Spondyloepimetaphyseal dysplasia, Missouri type - See Spondylometaepiphyseal dysplasia short limb-hand type
* Spondyloepimetaphyseal dysplasia, Shohat type - See Spondyloepimetaphyseal dysplasia Shohat type
* Spondyloepimetaphyseal dysplasia, Sponastrime type - See Spondyloepimetaphyseal dysplasia Sponastrime type
* Spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency - See Roifman syndrome
* Spondyloepiphyseal dysplasia
* Spondyloepiphyseal dysplasia - brachydactyly - speech disorder - See Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
* Spondyloepiphyseal dysplasia - nephrotic syndrome - See Schimke immunoosseous dysplasia
* Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia - See Spondyloepiphyseal dysplasia congenita
* Spondyloepiphyseal dysplasia congenita
* Spondyloepiphyseal dysplasia Maroteaux type
* Spondyloepiphyseal dysplasia nephrotic syndrome - See Schimke immunoosseous dysplasia
* Spondyloepiphyseal dysplasia Omani type
* Spondyloepiphyseal dysplasia pseudoachondroplastic 2 - See Pseudoachondroplastic dysplasia 2
* Spondyloepiphyseal dysplasia tarda - See Spondyloepiphyseal dysplasia tarda X-linked
* Spondyloepiphyseal dysplasia tarda - progressive arthropathy - See Progressive pseudorheumatoid arthropathy of childhood
* Spondyloepiphyseal dysplasia tarda autosomal dominant
* Spondyloepiphyseal dysplasia tarda Toledo type
* Spondyloepiphyseal dysplasia tarda with progressive arthropathy - See Progressive pseudorheumatoid arthropathy of childhood
* Spondyloepiphyseal dysplasia tarda X-linked
* Spondyloepiphyseal dysplasia, Cantu type - See Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
* Spondyloepiphyseal dysplasia, congenital type - See Spondyloepiphyseal dysplasia congenita
* Spondyloepiphyseal dysplasia, Maroteaux type - See Spondyloepiphyseal dysplasia Maroteaux type
* Spondyloepiphyseal dysplasia, Omani type - See Spondyloepiphyseal dysplasia Omani type
* Spondyloepiphyseal dysplasia, pseudoachondroplastic - See Pseudoachondroplasia
* Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
* Spondylo-humero-femoral dysplasia - See Atelosteogenesis type 1
* Spondylohumerofemoral hypoplasia - See Atelosteogenesis type 1
* Spondylohypoplasia, arthrogryposis and popliteal pterygium
* Spondylometaepiphyseal dysplasia Anauxetic type - See Anauxetic dysplasia
* Spondylometaepiphyseal dysplasia Menger type - See Anauxetic dysplasia
* Spondylometaepiphyseal dysplasia short limb-abnormal calcification type - See Spondylometaepiphyseal dysplasia short limb-hand type
* Spondylometaepiphyseal dysplasia short limb-hand type
* Spondylometaphyseal dysplasia - cone-rod dystrophy - See Spondylometaphyseal dysplasia with cone-rod dystrophy
* Spondylometaphyseal dysplasia A4 type - See Spondylometaphyseal dysplasia type A4
* Spondylometaphyseal dysplasia Algerian type
* Spondylometaphyseal dysplasia axial type - See Axial spondylometaphyseal dysplasia
* Spondylometaphyseal dysplasia corner fracture type
* Spondylometaphyseal dysplasia East-African type
* Spondylometaphyseal dysplasia Kozlowski type
* Spondylometaphyseal dysplasia Richmond type - See Spondylometaphyseal dysplasia X-linked
* Spondylometaphyseal dysplasia Schmidt type - See Spondylometaphyseal dysplasia Algerian type
* Spondylometaphyseal dysplasia Sedaghatian type
* Spondylometaphyseal dysplasia Sutcliffe type - See Spondylometaphyseal dysplasia corner fracture type
* Spondylometaphyseal dysplasia type A4
* Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
* Spondylometaphyseal dysplasia with cone-rod dystrophy
* Spondylometaphyseal dysplasia with dentinogenesis imperfecta
* Spondylometaphyseal dysplasia with enchondromatous changes - See Spondyloenchondrodysplasia
* Spondylometaphyseal dysplasia with severe genu valgum - See Spondylometaphyseal dysplasia Algerian type
* Spondylometaphyseal dysplasia X-linked
* Spondylometaphyseal dysplasia, A4 type - See Spondylometaphyseal dysplasia type A4
* Spondylometaphyseal dysplasia, Algerian type - See Spondylometaphyseal dysplasia Algerian type
* Spondylometaphyseal dysplasia, corner fracture type - See Spondylometaphyseal dysplasia corner fracture type
* Spondylometaphyseal dysplasia, Golden type - See Spondylometaphyseal dysplasia X-linked
* Spondylometaphyseal dysplasia, Schmidt type - See Spondylometaphyseal dysplasia Algerian type
* Spondylometaphyseal dysplasia, Sedaghatian type - See Spondylometaphyseal dysplasia Sedaghatian type
* Spondylometaphyseal dysplasia, Sutcliffe type - See Spondylometaphyseal dysplasia corner fracture type
* Spondyloperipheral dysplasia
* Spondyloperipheral dysplasia - short ulna - See Spondyloperipheral dysplasia
* Spondyloperipheral dysplasia with short ulna - See Spondyloperipheral dysplasia
* Spondylospinal thoracic dysostosis
* Spondylothoracic dysostosis
* Spondylothoracic dysplasia - See Spondylothoracic dysostosis
* Sponge kidney - See Medullary sponge kidney
* Spongy degeneration of the brain - See Canavan disease
* Spongy degeneration of the central nervous system - See Canavan disease
* Spongy myocardium - See Left ventricular noncompaction
* Spontaneous coronary artery dissection
* Spontaneous dactylolysis - See Ainhum
* Spontaneous occlusion of the circle of Willis - See Moyamoya disease
* Spontaneous perforation of the esophagus - See Boerhaave syndrome
* Spontaneous periodic hypothermia - See Shapiro syndrome
* Spontaneous periodic hypothermia syndrome - See Shapiro syndrome
* Spontaneous pneumothorax familial type
* Spontaneous recurrent hypothermia syndrome - See Shapiro syndrome
* Spontaneous rupture of the esophagus - See Boerhaave syndrome
* Sporadic inclusion body myositis - See Inclusion body myositis
* Sporotrichosis
* Spotted bones - See Osteopoikilosis
* Spotted fever
* SPPK1 - See Keratosis palmoplantaris striata 1
* SPPX2 - See Spastic paraplegia 2
* SPR deficiency - See Sepiapterin reductase deficiency
* Spranger Schinzel Myers syndrome
* Sprengel deformity
* Sprengel's shoulder - See Sprengel deformity
* Spring catarrh - See Vernal keratoconjunctivitis
* Sprinz-Nelson syndrome - See Dubin-Johnson syndrome
* SPS - See Stiff person syndrome
* SPSMA - See Amyotrophy, neurogenic scapuloperoneal, New England type
* Spun glass hair - See Uncombable hair syndrome
*   Squamous cell carcinoma
* Squamous cell carcinoma of the head and neck
*   Squamous cell skin cancer - See Squamous cell carcinoma
* SRD5A3-CDG - See SRD5A3-CDG (CDG-Iq)
* SRD5A3-CDG (CDG-Iq)
* SREAT - See Hashimoto's encephalitis
* SRN1 - See Nephrotic syndrome, idiopathic, steroid-resistant
* SRP - See Prieto X-linked mental retardation syndrome
* SRPS type 1 - See Short rib-polydactyly syndrome type 1
* SRPS type 2 - See Short rib-polydactyly syndrome type 2
* SRPS type 3 - See Short rib-polydactyly syndrome type 3
* SRPS type 4 - See Short rib-polydactyly syndrome type 4
* SRS - See Snyder-Robinson syndrome
* SS - See Acute febrile neutrophilic dermatosis
* SSADH deficiency - See Succinic semialdehyde dehydrogenase deficiency
* SSB syndrome - See Severe achondroplasia with developmental delay and acanthosis nigricans
* SSCM - See Split cord malformation
* SSD - See X-linked ichthyosis
* SSDD - See X-linked ichthyosis
* SSPE - See Subacute sclerosing panencephalitis
* SSR4-CDG
* SSS - See Hypoparathyroidism-retardation-dysmorphism syndrome
* SSSS - See Toxic epidermal necrolysis
* St Anthony's fire
* St. Helena familial genu valgum - See Genu valgum, st Helena familial
* St. Vitus dance - See Sydenham's chorea
* ST3GAL5-CDG - See Amish infantile epilepsy syndrome
* Stachybotrys atra - See Stachybotrys chartarum
* Stachybotrys chartarum
* Stale fish syndrome - See Trimethylaminuria
* Stalker Chitayat syndrome
* Stalker-Chitayat syndrome - See Stalker Chitayat syndrome
* Stampe sorensen syndrome
* Stanescu osteosclerosis - See Craniofacial dysostosis with diaphyseal hyperplasia
* Stapedo-vestibular ankylosis - See Deafness, progressive with stapes fixation
* Staphylococcal food poisoning
* Staphylococcal scalded skin syndrome - See Toxic epidermal necrolysis
* Staphylococcal toxic shock syndrome
* STAR syndrome
* Stargardt 1 - See Stargardt disease
* Stargardt disease
* Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features
* Stargardt macular dystrophy - See Stargardt disease
* Stark-Kaeser syndrome - See Scapuloperoneal syndrome, neurogenic, Kaeser type
* Startle disease - See Jumping Frenchmen of Maine
* Startle disease, familial - See Hereditary hyperekplexia
* Startle reaction, exaggerated - See Hereditary hyperekplexia
* STAT3 deficiency - See Autosomal dominant hyper IgE syndrome
* Stationary night blindness, Oguchi type - See Oguchi disease
* Status epileptics owing to presumed encephalitis - See Febrile infection-related epilepsy syndrome
* Status epilepticus
* Steatocystoma multiplex
* Steatocystoma multiplex - natal teeth - See Steatocystoma multiplex with natal teeth
* Steatocystoma multiplex with natal teeth
* Steatosis of liver - See Visceral steatosis
* Steele-Richardson-Olszewski Syndrome - See Progressive supranuclear palsy
* Steely hair disease - See Menkes disease
* Steely hair syndrome - See Menkes disease
* Steinert disease - See Myotonic dystrophy type 1
* Steinert myotonic dystrophy - See Myotonic dystrophy type 1
* Steinert's disease - See Myotonic dystrophy type 1
* Steinfeld syndrome
* Stenotrophomonas maltophilia
* Stenotrophomonas maltophilia bacteremia - See Stenotrophomonas maltophilia
* Sterile multifocal osteomyelitis with periostitis and pustulosis - See Deficiency of interleukin-1 receptor antagonist
* Sterility due to immotile flagella
* Stern Lubinsky Durrie syndrome - See Corneodermatoosseous syndrome
* Sternal cleft
* Sternal cyst vascular anomalies
* Sternal malformation vascular dysplasia associatio
* Sternal nonunion with supraumbilical raphe - See Supraumbilical midabdominal raphe and facial cavernous hemangiomas
* Stern-Lubinsky-Durrie syndrome - See Corneodermatoosseous syndrome
* Steroid 11-beta-hydroxylase deficiency - See 11-beta-hydroxylase deficiency
* Steroid 5-alpha-reductase deficiency - See 5-alpha reductase deficiency
* Steroid dehydrogenase deficiency dental anomalies
* Steroid sulfatase deficiency - See X-linked ichthyosis
* Steroid sulfatase deficiency disease - See X-linked ichthyosis
* Steroid-responsive encephalopathy associated with autoimmune thyroiditis - See Hashimoto's encephalitis
* Sterol 27-hydroxylase deficiency - See Cerebrotendinous xanthomatosis
* Sterol c5-desaturase deficiency - See Lathosterolosis
* Stevens-Johnson syndrome
* Stewart Treves syndrome
* STHE - See Hereditary hyperekplexia
* Stickler syndrome
* Stickler syndrome nonocular type - See Stickler syndrome, type 3
* Stickler syndrome type 1
* Stickler syndrome type 2 - See Stickler syndrome, type 2
* Stickler syndrome type 3 - See Stickler syndrome, type 3
* Stickler syndrome, beaded vitreous type - See Stickler syndrome, type 2
* Stickler syndrome, membranous vitreous type - See Stickler syndrome type 1
* Stickler syndrome, non-ocular type - See Stickler syndrome, type 3
* Stickler syndrome, type 2
* Stickler syndrome, type 3
* Stickler syndrome, vitreous type 1 - See Stickler syndrome type 1
* Stickler syndrome, vitreous type 2 - See Stickler syndrome, type 2
* Stiff baby syndrome - See Hereditary hyperekplexia
* Stiff lung - See Acute respiratory distress syndrome
* Stiff man syndrome - See Stiff person syndrome
* Stiff person syndrome
* Stiff skin syndrome
* Stiff-baby syndrome - See Hereditary hyperekplexia
* Stiff-man syndrome, congenital - See Hereditary hyperekplexia
* Stiff-person syndrome, congenital - See Hereditary hyperekplexia
* Still disease - See Systemic onset juvenile idiopathic arthritis
* Stilling-Turk-Duane syndrome - See Duane syndrome type 1
* Still's disease (formerly) - See Systemic onset juvenile idiopathic arthritis
* Still's disease adult onset - See Adult-onset Still's disease
* Stimmler syndrome - See Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
* STING-associated vasculopathy with onset in infancy
* STL 2 - See Stickler syndrome, type 2
* STL1 - See Stickler syndrome type 1
* STL3 - See Stickler syndrome, type 3
* Stocco dos Santos syndrome
* Stocco dos Santos X-linked mental retardation syndrome - See Stocco dos Santos syndrome
* Stoelinga de Koomen Davis syndrome
* Stoll Alembik Finck syndrome
* Stoll-Alembik-Finck syndrome - See Stoll Alembik Finck syndrome
* Stoll-Géraudel-Chauvin syndrome - See Intellectual deficit - short stature - hypertelorism
* Stoll-Kieny-Dott syndrome - See Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
* Stoll-Levy-Francfort syndrome - See Phocomelia ectrodactyly deafness sinus arrhythmia
* Stoll-Lévy-Francfort syndrome - See Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia
* Stomach cancer - See Stomach carcinoma
* Stomach cancer, childhood
* Stomach cancer, familial
* Stomach carcinoma
* Stomach carcinoma, childhood - See Stomach cancer, childhood
* Stomach carcinoma, familial - See Stomach cancer, familial
* Stomach Lymphoma, Non-Hodgkins type - See Lymphoma, gastric non Hodgkins type
* Stomatocytosis I
* Stomatocytosis II
* Stomatocytosis, cold-sensitive - See Pseudohyperkalemia Cardiff
*   Stomatodynia - See Burning mouth syndrome
* Stone man syndrome - See Fibrodysplasia ossificans progressiva
* Storage pool platelet disease - See Platelet storage pool deficiency
* Storm syndrome
* Stormorken syndrome - See Thrombocytopathy asplenia miosis
* Stormorken-Sjaastad-Langslet syndrome - See Thrombocytopathy asplenia miosis
* Strabismus from superior oblique palsy - See Familial congenital fourth cranial nerve palsy
* Straight-chain Acyl-CoA oxidase deficiency - See Pseudoneonatal adrenoleukodystrophy
* Strasburger-Hawkins-Eldridge syndrome - See Cushing's symphalangism
* Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome - See Cushing's symphalangism
* Stratton Parker syndrome - See Short stature wormian bones dextrocardia
* Stratton-Garcia-Young syndrome
* Stratton-Parker syndrome - See Short stature wormian bones dextrocardia
* Streeter anomaly - See Amniotic band syndrome
* Streptococcal Group A invasive disease
* Streptococcal Group B invasive disease
* Stress cardiomyopathy
* Stress polycythemia - See Pseudopolycythaemia
* Stress-induced cardiomyopathy - See Stress cardiomyopathy
* Stress-induced polymorphic ventricular tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
* Striatal degeneration familial - See Striatonigral degeneration infantile
* Striate palmoplantar keratoderma 1 - See Keratosis palmoplantaris striata 1
* Striate palmoplantar keratoderma 3 - See Keratosis palmoplantaris striata 3
* Striatonigral degeneration infantile
* Striopallidodentate calcinosis autosomal dominant adult-onset - See Familial idiopathic basal ganglia calcification
* Strongyloidiasis
* Strudwick syndrome - See Spondyloepimetaphyseal dysplasia Strudwick type
* Strumpell disease - See Spastic paraplegia 3
* Strümpell disease - See Spastic paraplegia 3
* Strümpell-Lorrain disease - See Spastic paraplegia 9
* STT3A-CDG and STT3B-CDG
* Stuart factor deficiency, congenital - See Factor X deficiency
* Stuart-Prower factor deficiency - See Factor X deficiency
* Sturge Weber syndrome - See Sturge-Weber syndrome
* Sturge-Weber syndrome
* Sturge-Weber-Dimitri syndrome - See Sturge-Weber syndrome
* Sturge-Weber-Krabbe angiomatosis - See Sturge-Weber syndrome
* Sturge-Weber-Krabbe syndrome - See Sturge-Weber syndrome
* Stuttgart disease - See Leptospirosis
* Stüve-Wiedemann dysplasia - See Stuve-Wiedemann syndrome
* Stuve-Wiedemann syndrome
* Stüve-Wiedemann syndrome - See Stuve-Wiedemann syndrome
* Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome - See Stuve-Wiedemann syndrome
* STWS - See Stuve-Wiedemann syndrome
* Styloid-stylohyoid syndrome - See Eagle syndrome
* Subacute Berylliosis - See Berylliosis
* Subacute cerebellar degeneration
*   Subacute cutaneous lupus - See Lupus
* Subacute inclusion body encephalitis - See Subacute sclerosing panencephalitis
* Subacute inflammatory demyelinating polyneuropathy - See Marek disease
* Subacute inflammatory demyelinating polyradiculoneuropathy - See Marek disease
* Subacute necrotizing encephalomyelopathy maternally inherited - See Maternally inherited Leigh syndrome
* Subacute necrotizing encephalopathy - See Leigh syndrome
* Subacute sclerosing leukoencephalitis - See Subacute sclerosing panencephalitis
* Subacute sclerosing panencephalitis
* Subacute spongiform encephalopathy, Gerstmann-Straussler type - See Gerstmann-Straussler-Scheinker disease
* Subaortic stenosis - short stature - See Subaortic stenosis short stature syndrome
* Subaortic stenosis short stature syndrome
* Subcortical band heterotopia
* Subcortical gliosis of Neumann - See Hereditary diffuse leukoencephalopathy with spheroids
* Subcortical laminar heterotopia - See Subcortical band heterotopia
* Subcortical laminar heterotopia, X-linked, - See Lissencephaly X-linked
* Subcortical vascular encephalopathy, progressive - See Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
* Subcutaneous panniculitis-like T-cell lymphoma
* Subcutaneous penile vein thrombosis - See Mondor disease
* Subdivided left atrium - See Cor triatriatum
* Subependymal astrocytoma (formerly) - See Subependymoma
* Subependymal giant cell astrocytoma
* Subependymal nodular heterotopia
* Subependymoma
* Subepithelial amyloidosis of the cornea - See Amyloidosis corneal
* Subglottic bar, congenital heart disease and low stature - See Gay Feinmesser Cohen syndrome
* Submacular cysticercosis - See Cysticercosis
* Subpulmonary stenosis
* Subtelomeric 1p36 deletion - See Chromosome 1p36 deletion syndrome
* Subungual exostoses - See Dupuytren subungual exostosis
* Subungual melanoma - See Acral lentiginous melanoma
* Subvalvular aortic stenosis
* Succinate CoQ reductase deficiency - See Mitochondrial complex II deficiency
* Succinic acidemia
* Succinic acidemia lactic acidosis congenital
* Succinic semialdehyde dehydrogenase deficiency
* Succinylcholine Sensitivity - See Pseudocholinesterase deficiency
* Succinyl-CoA acetoacetate transferase deficiency - See SCOT deficiency
* Succinyl-CoA:3-ketoacid CoA transferase deficiency - See SCOT deficiency
* Succinyl-CoA:3-oxoacid CoA transferase deficiency - See SCOT deficiency
* Sucrase-isomaltase deficiency, congenital - See Congenital sucrase-isomaltase deficiency
* Sucrose intolerance congenital - See Congenital sucrase-isomaltase deficiency
* Sucrose isomaltose enzyme deficiency - See Congenital sucrose isomaltose malabsorption
* Sucrose-isomaltase malabsorption, congenital - See Congenital sucrase-isomaltase deficiency
* Sudanophilic leukodystrophy, Paelizeus-Merzbacher type - See Pelizaeus-Merzbacher disease
* Sudden Arrhythmia Death Syndrome
* Sudden arrhythmic death syndrome - See Sudden Arrhythmia Death Syndrome
* Sudden infant death syndrome
* Sudden infant death with dysgenesis of the testes syndrome
* Sudden onset of unilateral flushing and sweating - See Harlequin syndrome
* Sudden onset scleroderma - See Diffuse scleroderma
* Sudden unexpected nocturnal death syndrome - See Brugada syndrome
* Sudden unexplained nocturnal death syndrome - See Brugada syndrome
* Sugarman brachydactyly
* Sugarman syndrome - See Orofaciodigital syndrome 3
* Sugio-Kajii Syndrome - See Trichorhinophalangeal syndrome type 3
* Sulfatide lipidosis - See Metachromatic leukodystrophy
* Sulfatidosis juvenile, Austin type - See Multiple sulfatase deficiency
* Sulfite oxidase deficiency
* Sulfite oxidase deficiency due to molybdenum cofactor deficiency - See Molybdenum cofactor deficiency
* Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - See Retinopathy pigmentary mental retardation
* Sulfocysteinuria - See Schimke immunoosseous dysplasia
* Sulfocysteinuria - See Sulfite oxidase deficiency
* Summerskill syndrome - See Benign recurrent intrahepatic cholestasis 1
* Summitt syndrome
* Summitt's acrocephalosyndactyly - See Summitt syndrome
* SUNCT headache
* SUNCT syndrome - See SUNCT headache
* SUNDS - See Brugada syndrome
* Suo yang - See Koro
* Superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality - See Sammartino Decreccio syndrome
* Superficial epidermolytic ichthyosis - See Ichthyosis bullosa of Siemens
* Superficial siderosis of the central nervous system
* Superficial spreading melanoma
* Superficial thrombophlebitis - See Mondor disease
* Superior canal dehiscence syndrome
* Superior limbic keratoconjunctivitis
* Superior mesenteric artery syndrome
* Superior oblique oculomotor palsy, familial congenital - See Familial congenital fourth cranial nerve palsy
* Superior Oblique Tendon Sheath syndrome - See Brown syndrome
* Superior semicircular canal dehiscence syndrome - See Superior canal dehiscence syndrome
* Superior vena cava obstruction - See Superior vena cava syndrome
* Superior vena cava syndrome
* Supernumerary der(22) syndrome - See Emanuel syndrome
* Supernumerary der(22),t(11;22) syndrome - See Emanuel syndrome
* Supernumerary digits - See Polydactyly
* Supernumerary nipples
* Supernumerary ring/marker 8 - See Ring chromosome 8
* Suppurative myositis - See Pyomyositis
* Suprabulbar paresis congenital - See Worster Drought syndrome
* Supraglottic laryngeal cancer
* Supraglottic laryngeal carcinoma - See Supraglottic laryngeal cancer
* Supranuclear ocular palsy
* Supranuclear palsy, progressive - See Progressive supranuclear palsy
* Supratentorial primitive neuroectodermal tumor
* Supratentorial primitive neuroectodermal tumors, childhood
* Supraumbilical midabdominal raphe and facial cavernous hemangiomas
* Supravalvar aortic stenosis - See Supravalvular aortic stenosis
* Supravalvar aortic stenosis, Eisenberg type - See Supravalvular aortic stenosis
* Supravalvular aortic stenosis
* Surdo-cardiac syndrome - See Jervell Lange-Nielsen syndrome
* Susac syndrome
* Susceptibility to autism, X-linked - See Chromosome Xp22 deletion syndrome
* Susceptibility to Tinea imbricata - See Kerion celsi
* Sutcliffe SMD - See Spondylometaphyseal dysplasia corner fracture type
* Sutcliffe type of spondylometaphyseal dysplasia - See Spondylometaphyseal dysplasia corner fracture type
* Sutherland-Haan syndrome - See Renpenning syndrome 1
* Sutherland-Haan X-linked mental retardation syndrome - See Renpenning syndrome 1
* Sutton disease 2
* Suxamethonium Sensitivity - See Pseudocholinesterase deficiency
* SVA - See Aneurysm of sinus of Valsalva
* SVAS - See Supravalvular aortic stenosis
* SVC obstruction - See Superior vena cava syndrome
* SVC syndrome - See Superior vena cava syndrome
* SVCS - See Superior vena cava syndrome
* SVD - See Snowflake vitreoretinal degeneration
* Swamp fever - See Leptospirosis
* Sweet syndrome - See Acute febrile neutrophilic dermatosis
* Swimmer's itch - See Cercarial Dermatitis
* Swineherd's disease - See Leptospirosis
* SWS - See Sturge-Weber syndrome
* SWS type I - Facial and leptomeningeal angiomas - See Sturge-Weber syndrome
* SWS type II - Facial angioma alone, no CNS involvement - See Sturge-Weber syndrome
* SWS type III - Isolated leptomeningeal angiomas - See Sturge-Weber syndrome
* Swyer syndrome
* Swyer-James syndrome
* Swyer-James-MacLeod syndrome - See Swyer-James syndrome
* Sydenham chorea - See Sydenham's chorea
* Sydenham's chorea
* Symbrachydactyly of the hand and foot - See Frints De Smet Fabry Fryns syndrome
* Symmastia
* Symmetric dyschromatosis of the extremities - See Dyschromatosis symmetrica hereditaria 1
* Symmetric infantile thalamic degeneration - See Thalamic degeneration, symmetric infantile
* Symmetrical infantile thalamic degeneration - See Thalamic degeneration symmetrical infantile
* Symmetrical thalamic calcifications
* Symmetrical thalamic degeneration in infants - See Thalamic degeneration, symmetric infantile
* Sympathoblastoma - See Neuroblastoma
* Symphalangism - brachydactyly - See Multiple synostoses syndrome 1
* Symphalangism brachydactyly craniosynostosis
* Symphalangism brachydactyly syndrome - See Multiple synostoses syndrome 1
* Symphalangism distal
* Symphalangism familial proximal
* Symphalangism short stature accessory testis
* Symphalangism with multiple anomalies of hands and feet
* Symphalangism, Cushing type - See Cushing's symphalangism
* Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
* Symphalangism, short stature, skeletal anomalies, and accessory testis - See Theodor Hertz Goodman syndrome
* Syncamptodactyly scoliosis
* Syncopal paroxysmal tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
* Syncopal tachyarythmia - See Catecholaminergic polymorphic ventricular tachycardia
* Syncope familial neurocardiogenic - See Familial neurocardiogenic syncope
* Syndactylic oxycephaly - See Apert syndrome
* Syndactyly - preaxial polydactyly - sternal deformity - See PARC syndrome
* Syndactyly - telecanthus - anogenital and renal malformations - See STAR syndrome
* Syndactyly cataract mental retardation
* Syndactyly Cenani Lenz type
* Syndactyly ectodermal dysplasia cleft lip palate hand foot
* Syndactyly Malik-Percin type - See Syndactyly type 9
* Syndactyly mesoaxial synostotic with phalangeal reduction - See Syndactyly type 9
* Syndactyly of fingers 4 and 5 - See Syndactyly type 3
* Syndactyly of fingers four and five - See Syndactyly type 3
* Syndactyly of the ring and little finger - See Syndactyly type 3
* Syndactyly type 1
* Syndactyly type 1 - microcephaly - intellectual disability - See Filippi syndrome
* Syndactyly type 1 with cataracts and mental retardation
* Syndactyly type 2
* Syndactyly type 3
* Syndactyly type 4
* Syndactyly type 5
* Syndactyly type 7 - See Syndactyly Cenani Lenz type
* Syndactyly type 8 - See Metacarpals 4 and 5 fusion
* Syndactyly type 9
* Syndactyly type I with microcephaly and mental retardation - See Filippi syndrome
* Syndactyly with associated metacarpal and metatarsal fusion - See Syndactyly type 5
* Syndactyly, Malik-Percin type - See Syndactyly type 9
* Syndactyly, preaxial polydactyly and sternal deformity - See Acropectoral syndrome
* Syndactyly, telecanthus, anogenital and renal malformations - See STAR syndrome
* Syndactyly-polydactyly-ear lobe syndrome - See Syndactyly-polydactyly-earlobe syndrome
* Syndactyly-polydactyly-earlobe syndrome
* Syndermotic cataract and congenital ichthyosis - See Cataract and congenital ichthyosis
* Syndesmodysplasic dwarfism
* Syndromatic diarrhea - See Tricho-hepato-enteric syndrome
* Syndrome of coronal craniosynostosis - See Muenke Syndrome
* Syndrome of dwarfism, mental retardation, lens opacities, nystagmus, strabismus, cryptorchidism and absent patellae - See Singh Chhaparwal Dhanda syndrome
* Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria - See Ethylmalonic encephalopathy
*   Syndrome of inappropriate antidiuretic hormone
*   Syndrome of inappropriate antidiuretic hormone secretion - See Syndrome of inappropriate antidiuretic hormone
* Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies - See Microcephaly deafness syndrome
* Syndrome of microtia and aortic arch anomalies - See Isotretinoin embryopathy like syndrome
* Syndrome of ocular and facial anomalies, telecanthus and deafness - See Donnai-Barrow syndrome
* Syndrome of opticoacoustic nerve atrophy with dementia - See Jensen syndrome
* Syndrome of polyneuropathy, skin hyperpigmentation, oedema and hepatosplenomegaly - See Tang Hsi Ryu syndrome
* Syndrome of pseudomyxoma peritonei - See Pseudomyxoma peritonei
* Syndrome of tetraamelia with pulmonary hypoplasia - See Tetraamelia with pulmonary hypoplasia
* Syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR) - See Thymic-Renal-Anal-Lung dysplasia
* Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition - See Singleton Merten syndrome
* Syndrome with corpus callosum agenesis /dysgenesis as a major feature - See Agenesis of the corpus callosum
* Syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart - See Eosinophilia-myalgia syndrome
* Syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear - See Schlegelberger Grote syndrome
* Syndromic bile duct paucity - See Alagille syndrome
* Syndromic diarrhea - See Tricho-hepato-enteric syndrome
* Syndromic diarrhea/Tricho-hepato-enteric syndrome - See Tricho-hepato-enteric syndrome
* Syndromic microphthalmia type 1 - See Lenz microphthalmia syndrome
* Syndromic microphthalmia type 10 - See Microphthalmia syndromic 10
* Syndromic microphthalmia type 2 - See Oculofaciocardiodental syndrome
* Syndromic microphthalmia type 3 - See Microphthalmia syndromic 3
* Syndromic microphthalmia type 4 - See Microphthalmia syndromic 4
* Syndromic microphthalmia type 5 - See Microphthalmia syndromic 5
* Syndromic microphthalmia type 6 - See Microphthalmia syndromic 6
* Syndromic microphthalmia type 7 - See Microphthalmia syndromic 7
* Syndromic microphthalmia type 8 - See Microphthalmia syndromic 8
* Syndromic microphthalmia type 9 - See Microphthalmia syndromic 9
* Syndromic microphthalmia/anophthalmia due to OTX2 mutation - See Microphthalmia syndromic 5
* Syndromic multisystem autoimmune disease - See ITCH E3 ubiquitin ligase deficiency
* Syndromic X-linked intellectual disability 7 - See Mental retardation X-linked syndromic 7
* SYNE1-related autosomal recessive cerebellar ataxia - See Spinocerebellar ataxia autosomal recessive 8
* Syngnathia - cleft palate - See Syngnathia cleft palate
* Syngnathia cleft palate
* Syngnathia multiple anomalies
* Synostoses multiple with brachydactyly - See Multiple synostoses syndrome 1
* Synostoses, tarsal, carpal, and digital
* Synostosis - microcephaly - scoliosis - See Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
* Synostosis of talus and calcaneus short stature
* Synovial cancer
* Synovial Chondromatosis
* Synovial chondromatosis, familial with dwarfism
* Synovial osteochondromatosis - See Synovial Chondromatosis
* Synovial sarcoma
* Synovialosarcoma - See Synovial sarcoma
* Synovitis
* Synovitis acne pustulosis hyperostosis osteitis - See SAPHO syndrome
* Synovitis granulomatous with uveitis and cranial neuropathies - See Blau syndrome
* Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis - See SAPHO syndrome
* Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome - See SAPHO syndrome
* Synpolydactyly - See Syndactyly type 2
* SYNS1 - See Multiple synostoses syndrome 1
* SYNS2 - See Multiple synostoses syndrome 2
* Synspondylism - See Spondylocarpotarsal synostosis syndrome
* Synspondylism congenital - See Spondylocarpotarsal synostosis syndrome
* Syphilitic aseptic meningitis
* Syphilitic meningitis - See Syphilitic aseptic meningitis
* Syphilitic myelopathy
* Syringobulbia
* Syringocystadenoma papilliferum
*   Syringoma
* Syringomas natal teeth oligodontia
* Syringomelia hyperkeratosis
* Syringomyelia
* Systemic AL amyloidsis - See AL amyloidosis
* Systemic candida infections - See Systemic candidiasis
* Systemic candidiasis
* Systemic capillary leak syndrome
* Systemic hemosiderosis due to aceruloplasminemia - See Aceruloplasminemia
* Systemic juvenile idiopathic arthritis - See Systemic onset juvenile idiopathic arthritis
*   Systemic lupus erythematosus - See Lupus
* Systemic mast cell disease - See Systemic mastocytosis
* Systemic mastocytosis
* Systemic necrotizing angitis
* Systemic onset juvenile idiopathic arthritis
* Systemic onset juvenile rheumatoid arthritis - See Systemic onset juvenile idiopathic arthritis
* Systemic polyarthritis - See Systemic onset juvenile idiopathic arthritis
* Systemic primary carnitine deficiency - See Primary carnitine deficiency
* Systemic scleroderma
* Systemic sclerosis - See Systemic scleroderma
* Systemic sclerosis sine scleroderma - See Sine scleroderma
*   Systemic vasculitis - See Vasculitis
* Systemic-onset juvenile idiopathic arthritis - See Systemic onset juvenile idiopathic arthritis