S | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• S penetrans - See Tungiasis
• S. maltophilia - See Stenotrophomonas maltophilia infection
• S. maltophilia infection - See Stenotrophomonas maltophilia infection
• Saal Bulas syndrome
• Sabinas brittle hair syndrome - See Trichothiodystrophy
• Sabinas syndrome - See Trichothiodystrophy
• Saccade initiation failure congenital - See Oculomotor apraxia Cogan type
• Saccharopine dehydrogenase deficiency - See Saccharopinuria
• Saccharopinuria
• Sack-Barabas syndrome - See Vascular Ehlers-Danlos syndrome
• Sackey Sakati Aur syndrome
• Sacral agenesis - See Caudal regression sequence
• Sacral agenesis syndrome - See Caudal regression sequence
• Sacral defect with anterior meningocele - See Caudal regression sequence
• 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 sequence
• Sacral Tarlov cysts - See Tarlov cysts
• Sacrococcygeal Teratoma
• SACS - See Spastic ataxia Charlevoix-Saguenay type
• SADDAN - See Severe achondroplasia with developmental delay and acanthosis nigricans
• 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 Pfeiffer-type 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
• 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
• Salivary gland type cancer of the breast
• Salla disease - See Free sialic acid storage disease
• SAMHD1-related Aicardi-Goutieres syndrome - See Aicardi-Goutieres syndrome type 5
• Sammartino Decreccio 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
• Sandpaper nails - See Twenty-nail dystrophy
• Sandrow syndrome - See Laurin-Sandrow syndrome
• Sanfilippo disease - See Mucopolysaccharidosis type III
• 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 C - See Mucopolysaccharidosis type IIIC
• Sanfilippo syndrome type D - See Mucopolysaccharidosis type IIID
• Sanjad-Sakati syndrome - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• Santos Mateus Leal syndrome
• SAPHO syndrome
• Saposin A deficiency - See Krabbe disease atypical due to Saposin A deficiency
• Sarcoid of Boeck - See Sarcoidosis - not a rare disease
• Sarcoidosis - not a rare disease
• 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 sarcoma
• Sarcomatous glioblastoma - See Gliosarcoma
• Sarcoplasmic reticulum -Ca2+ATPase deficiency - See Brody myopathy
• Sarcopsylla penetrans - See Tungiasis
• Sarcosine dehydrogenase complex deficiency - See Sarcosinemia
• Sarcosinemia
• Sarcotubular myopathy - See Limb-girdle muscular dystrophy type 2H
• SARD deficiency - See Sarcosinemia
• SARDH deficiency - See Sarcosinemia
• SARS
• SAS - See SATB2-associated syndrome
• SATB2 syndrome - See SATB2-associated syndrome
• SATB2-associated syndrome
• Satoyoshi syndrome
• 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-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 syndrome (mild variant of Roberts 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
• SCA16 (formerly) - See Spinocerebellar ataxia 15
• SCA18 - See Spinocerebellar ataxia 18
• SCA19/22 - See Spinocerebellar ataxia 19 and 22
• SCA20 - See Spinocerebellar ataxia 20
• 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 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 Spinocerebellar ataxia 37
• SCA38 - See Hereditary ataxia
• SCA4 - See Spinocerebellar ataxia 4
• SCA40 - See Spinocerebellar ataxia 40
• 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
• SCADH deficiency - See Short-chain acyl-CoA dehydrogenase deficiency
• Scalp defect congenital - See Aplasia cutis congenita
• Scalp defects postaxial polydactyly
• Scalp ear nipple syndrome
• Scalp-ear-nipple syndrome - See Scalp ear nipple syndrome
• SCAN 2 - See Ataxia with Oculomotor Apraxia Type 2
• SCAN1 - See Spinocerebellar ataxia autosomal recessive with axonal neuropathy
• SCAN2 - See Ataxia with Oculomotor Apraxia Type 2
• 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 Ataxia with Oculomotor Apraxia Type 2
• 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
• SCAR9 - See Autosomal recessive spinocerebellar ataxia 9
• 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 Subacute cerebellar degeneration
• SCDO - See Spondylocostal dysostosis
• SCDO1 - See Spondylocostal dysostosis
• SCDO2 - See Spondylocostal dysostosis
• SCDO4 - See Spondylocostal dysostosis
• SCDO5 - See Spondylocostal dysostosis
• SCDO6 - See Spondylocostal dysostosis
• SCDS - See Superior semicircular canal dehiscence syndrome
• Schaaf-Yang syndrome
• Schaap Taylor Baraitser syndrome
• Schaefer Stein Oshman syndrome
• Schamberg disease - See Pigmented purpuric dermatosis
• Schamberg purpura - See Pigmented purpuric dermatosis
• Schaumann's disease - See Sarcoidosis - not a rare disease
• Scheie syndrome
• Scheie syndrome (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
• 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
• Schimmelpenning Feuerstein Mims syndrome - See Linear nevus sebaceous syndrome
• Schindler disease type 1
• Schindler disease type 2 - See Kanzaki disease
• Schindler disease type 3 - See N-acetyl-alpha-D-galactosaminidase deficiency type III
• Schindler disease type I - See 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 Al-Awadi-Raas-Rothschild syndrome
• 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
• 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
• Schneckenbecken dysplasia
• Schnitzler syndrome
• Schnyder corneal dystrophy - See Corneal dystrophy crystalline of Schnyder
• Schnyder crystalline corneal dystrophy - See Corneal dystrophy crystalline of Schnyder
• Schofer Beetz Bohl syndrome - See Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
• Scholte syndrome
• Schrander-Stumpel Theunissen Hulsmans syndrome
• Schulman-Upshaw syndrome - See Congenital thrombotic thrombocytopenic purpura
• Schut-Haymaker type OPCA - See Spinocerebellar ataxia 1
• Schuurs-Hoeijmakers syndrome - See PACS1-related syndrome
• Schwannoma
• Schwannomatosis
• Schwartz Bartter syndrome - See Syndrome of inappropriate antidiuretic hormone - not a rare disease
• Schwartz Cohen-Addad Lambert syndrome
• Schwartz Jampel Aberfeld syndrome - See Schwartz Jampel syndrome
• Schwartz Jampel syndrome
• Schwartz-Jampel syndrome - See Schwartz Jampel syndrome
• Schwartz-Jampel syndrome neonatal - See Stuve-Wiedemann syndrome
• Schwartz-Jampel syndrome type 2 - See Stuve-Wiedemann syndrome
• Schwartz-Jampel-Aberfeld syndrome - See Schwartz Jampel syndrome
• 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 complete RAG1/2 deficiency - See Severe combined immunodeficiency due to complete RAG1/2 deficiency
• SCID, AR, T-cell negative, B-cell negative, NK cell-positive - See Severe combined immunodeficiency due to complete RAG1/2 deficiency
• SCID, atypical - See Severe combined immunodeficiency, atypical
• SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation - SeeSevere 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, childhood - See Childhood Lung Small Cell Carcinoma
• Scleredema
• Scleredema adultorum - See Scleredema
• Scleredema adultorum of Buschke - See Scleredema
• Scleredema diabeticorum - See Scleredema
• Scleredema diabeticorum of Buschke - See Scleredema
• Scleritis
• Scleroatonic muscular dystrophy - See Ullrich congenital muscular dystrophy
• Scleroatrophic and keratotic dermatosis of limbs - See Palmoplantar keratoderma-sclerodactyly syndrome
• Scleroderma - not a rare disease
• SCLERODERMA, FAMILIAL PROGRESSIVE - See CREST syndrome
• Scleroderma, linear - See Linear scleroderma
• Scleroderma, localized - See Localized scleroderma
• Scleroderma, sine - See Limited systemic sclerosis
• Scleroderma, systemic - See Systemic scleroderma
• Scleromyxedema
• 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 mesenteritis
• Sclerosing mucoepidermoid carcinoma with eosinophilia
• Sclerosing panniculitis - See Lipodermatosclerosis
• Sclerosteosis
• Sclerotic bones with dentin dysplasia - See Dentin dysplasia sclerotic bones
• Sclerotylosis - See Palmoplantar keratoderma-sclerodactyly syndrome
• SCLS - See Systemic capillary leak syndrome
• SCM type 1 - See Split spinal cord malformation
• SCN1A-related seizure disorders
• SCN2A disorders - See SCN2A related disorders
• SCN2A mutation - See SCN2A related disorders
• SCN2a mutations - See SCN2A related disorders
• SCN2A related conditions - See SCN2A related disorders
• SCN2A related disorders
• SCN2A-related disorders - See SCN2A related disorders
• SCN2A-related epilepsy - See SCN2A related disorders
• SCN3 - See Severe congenital neutropenia autosomal recessive 3
• SCN8A encephalopathy
• SCN8A epilepsy - See SCN8A encephalopathy
• SCOD3 - See Spondylocostal dysostosis
• 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 Small patella syndrome
• SCS - See Saethre-Chotzen syndrome
• SCT - See Spondylocarpotarsal synostosis syndrome
• Scurvy
• SD/THE - See Trichohepatoenteric syndrome
• SD1 - See Syndactyly type 1
• 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
• SDS - See Shwachman-Diamond syndrome
• SDSEM - See Spinocerebellar ataxia 2
• SDTY1 - See Syndactyly type 1
• SDTY3 - See Syndactyly type 3
• SE - See Status epilepticus
• Sea-Blue histiocyte disease - See Sea-Blue histiocytosis
• Sea-Blue histiocytosis
• 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 - See Steatocystoma multiplex
• Seborrheic keratosis - not a rare disease
• 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 adrenal insufficiency
• Secondary aplastic anemia - See Aplastic anemia
• Secondary hypothyroidism - See Central congenital hypothyroidism
• Secondary Non-tropical Sprue - See Whipple disease
• Secondary retention of permanent molars - See Ankylosis of teeth
• Secretory breast carcinoma
• Secretory carcinoma of the breast - See Secretory breast carcinoma
• SED - See Spondyloepiphyseal dysplasia tarda X-linked
• SED congenita - See Spondyloepiphyseal dysplasia congenita
• 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 dysplasia
• Seemanova Lesny syndrome - See Microcephaly microcornea syndrome Seemanova type
• Seemanova syndrome 2 - See Nijmegen breakage syndrome
• SEGA - See Subependymal giant cell astrocytoma
• 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 hyalinizing vasculopathy - See Livedoid vasculopathy
• Segmental vertebral anomalies - See Tethered cord syndrome
• Segmentation syndrome 1
• Seitelberger disease - See Infantile neuroaxonal dystrophy
• Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance - See SeSAME syndrome
• Seizures, benign familial infantile, 1 - See Convulsions, benign familial infantile, 1
• Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance - See SeSAME syndrome
• Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome - See SeSAME syndrome
• Selective antibody deficiency with normal immunoglobulins - See Specific antibody deficiency
• Selective cobalamin malabsorption with proteinuria - See Imerslund-Grasbeck syndrome
• Selective IgA deficiency - not a rare disease
• Selective IgM deficiency
• Selective immunoglobulin M deficiency - See Selective IgM deficiency
• Selective mutism - See Elective mutism
• Selective sound sensitivity syndrome - See Misophonia
• Selenium poisoning
• Selig Benacerraf Greene syndrome
• 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 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, Missouri type - See Spondyloepimetaphyseal dysplasia Missouri type
• SEMDJL - See Spondyloepimetaphyseal dysplasia joint laxity
• SEMDX - See Spondyloepimetaphyseal dysplasia X-linked
• Semilobar holoprosencephaly and primary craniosynostosis - See Genoa syndrome
• Seminoma of testis - See Testicular seminoma
• Seminomatous germ cell tumor of testis - See Testicular seminoma
• Sen Syndrome - See Scalp ear nipple syndrome
• SENDA - See Beta-Propeller Protein-Associated Neurodegeneration
• Sener syndrome
• Sengers syndrome
• Senile Dermatitis Herpetiformis - See Bullous pemphigoid
• Senior Loken 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, 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, enamel hypoplasia, and nail abnormalities - See Deafness enamel hypoplasia nail defects
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• Senter syndrome - See KID syndrome
• Seow Najjar syndrome
• Sepiapterin reductase deficiency
• SEPN1-related myopathy
• Septic arthritis - See Infectious arthritis
• Septic phlebitis of the internal jugular vein - See Lemierre syndrome
• Septooptic dysplasia - See Septo-optic dysplasia spectrum
• Septo-optic dysplasia - See Septo-optic dysplasia spectrum
• Septo-optic dysplasia spectrum
• Septo-optic dysplasia with digital anomalies - See Pagon Stephan syndrome
• Septo-optic dysplasia with growth hormone deficiency - See Septo-optic dysplasia spectrum
• SERAC1 defect - See MEGDEL syndrome
• Seres-Santamaria Arimany Muniz syndrome
• Serine pyruvate aminotransferase deficiency - See Primary hyperoxaluria type 1
• SERKAL syndrome
• Serpentine fibula-polycystic kidneys syndrome - See Acroosteolysis dominant type
• Serpiginous choroiditis
• Serpiginous choroidopathy - See Serpiginous choroiditis
• SERPINFI- related osteogenesis imperfecta - See Osteogenesis imperfecta type VI
• Sertoli cell-only syndrome
• Sertoli-leydig cell tumor of the ovary - See Sertoli-leydig cell tumors
• Sertoli-leydig cell tumors
• SeSAME syndrome
• SETBP1 disorder
• SETBP1 related developmental delay - See SETBP1 disorder
• SETBP1-related disorder - See SETBP1 disorder
• SETBP1-related intellectual disability - See SETBP1 disorder
• Setleis syndrome - See Facial ectodermal dysplasia
• Seven year itch - See Crusted scabies
• Severe ABCB11 deficiency - See Progressive familial intrahepatic cholestasis type 2
• 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 achondroplasia-developmental delay-acanthosis nigricans syndrome - See Severe achondroplasia with developmental delay and acanthosis nigricans
• Severe acute respiratory syndrome - See SARS
• Severe ATP8B1 deficiency - See Progressive familial intrahepatic cholestasis 1
• 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 complete RAG1/2 deficiency
• 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, 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 (neonatal) NM - See Severe congenital nemaline myopathy
• Severe congenital nemaline myopathy - See Severe congenital nemaline myopathy
• Severe congenital nemaline myopathy
• Severe congenital neutropenia
• Severe congenital neutropenia autosomal dominant
• 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 feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome - See Bainbridge-Ropers syndrome
• 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 hereditary thrombophilia due to congenital protein C deficiency - See Protein C deficiency - not a rare disease
• Severe hereditary thrombophilia due to congenital protein C deficiency - See Autosomal recessive protein C deficiency
• Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive - See Severe combined immunodeficiency due to complete RAG1/2 deficiency
• 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 AP-4-Associated Hereditary Spastic Paraplegia
• Severe intellectual disability and progressive spastic paraplegia - See Spastic paraplegia 51
• Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome - See Temple-Baraitser syndrome
• Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome - See GATAD2B-associated neurodevelopmental disorder
• Severe intellectual disability-progressive spastic diplegia syndrome
• Severe 'knock-knees' and variable lesser malalignment at the elbows and wrists - See Genu valgum, st Helena familial
• Severe mental deficiency proportionate dwarfism and delayed sexual maturation - See Cantu Sanchez-Corona Fragoso syndrome
• Severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet - SeeKaufman oculocerebrofacial syndrome
• Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome - See Intellectual disability - athetosis - microphthalmia
• 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, also known as Hurler syndrome) - 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 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 III
• 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 T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome - See T-cell immunodeficiency, congenital alopecia and nail dystrophy
• Severe thrombocytopenia and selective, marked decrease or absence of megakaryocytes - See Acquired amegakaryocytic thrombocytopenia
• 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
• Severe X-linked intellectual disability, Gustavson type
• Sex reversion-kidneys, adrenal and lung dysgenesis syndrome - See SERKAL syndrome
• Sex-linked mental retardation, short stature, obesity and hypogonadism - See X-linked intellectual disability - short stature – obesity
• Sexual ateleiotic dwarfism - See Isolated growth hormone deficiency type 1A
• Sexual precocity - See Precocious puberty
• Sexual precocity, familial, gonadotropin-independent - See Testotoxicosis
• 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
• SFMS - See Mental retardation Smith Fineman Myers type
• SGBS - See Simpson-Golabi-Behmel syndrome
• SGBS1 - See Simpson-Golabi-Behmel syndrome
• SGFLD syndrome - See Splenogonadal fusion limb defects micrognatia
• SGM1 - See Segmentation syndrome 1
• SGS - See Schinzel Giedion syndrome
• SH2D1A-Related Lymphoproliferative Disease, X-Linked - See X-linked lymphoproliferative syndrome 1
• Shah-Waardenburg syndrome - See Waardenburg syndrome type 4
• Shaking palsy - See Parkinson disease - not a rare disease
• Shaky leg syndrome - See Primary orthostatic tremor
• Shapiro syndrome
• Shapiro's syndrome - See Shapiro syndrome
• Sharp syndrome - See Mixed connective tissue disease
• Shashi X-linked mental retardation syndrome - See Mental retardation X-linked syndromic 11
• Shashi-Pena syndrome
• Shavers disease - See Aluminosis
• Shavers' disease - See Aluminosis
• Sheehan syndrome
• Sheldon-Hall syndrome
• SHFD1 - See Split hand foot malformation 1
• SHFD2 - See Split hand/foot malformation X-linked
• SHFLD - See Cleft hand absent tibia
• SHFM - See Split hand foot malformation
• SHFM1 - See Split hand foot malformation 1
• SHFM2 - See Split hand/foot malformation X-linked
• Shigellosis
• SHML - See Rosai-Dorfman disease
• SHMS - See PACS1-related syndrome
• Shock lung - See Acute respiratory distress syndrome
• Shokeir syndrome - See Alopecia, epilepsy, pyorrhea, mental subnormality
• Short bowel syndrome
• Short branched-chain acyl-CoA dehydrogenase deficiency - See 2-methylbutyryl-CoA dehydrogenase deficiency
• Short foot/brachydactyly of toes, camptodactyly , brachydactyly - See Camptobrachydactyly
• Short limb dwarf lethal Colavita Kozlowski type
• Short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation - See Spondyloepimetaphyseal dysplasia Sponastrime type
• Short limb skeletal dysplasia with SCID - See Short-limb skeletal dysplasia with severe combined immunodeficiency
• Short limbed dwarfism with extensive stippling - See Astley-Kendall 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, Majewski type
• 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 - See Short rib-polydactyly syndrome, Majewski type
• Short rib-polydactyly syndrome type 4
• Short rib-polydactyly syndrome type II - See Short rib-polydactyly syndrome, Majewski type
• 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, Majewski type
• 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
• Short stature heart defect and craniofacial anomalies - See Rommen Mueller Sybert syndrome
• 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 syndrome, Brussels type
• Short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice - See Pfeiffer Palm Teller syndrome
• 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 - SeeMegarbane syndrome
• Short stature, brachydactyly, nail dysplasia and mental retardation - See Tonoki syndrome
• 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, 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 X-linked intellectual disability, Abidi type
• Short stature, webbed neck, heart disease - See Al Gazali Aziz Salem syndrome
• Short stature-craniofacial anomalies-genital hypoplasia syndrome
• Short stature-pituitary and cerebellar defects-small sella turcica syndrome - See Pituitary hormone deficiency, combined 4
• SHORT syndrome
• Short tarsus absence of lower eyelashes - See Lopes Gorlin syndrome
• Short umbilical cord syndrome - See Limb-body wall complex
• Short-chain acyl-CoA dehydrogenase deficiency
• Short-chain acyl-coenzyme A dehydrogenase deficiency - See Short-chain acyl-CoA dehydrogenase deficiency
• Short-chain enoyl-CoA hydratase deficiency - See Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
• Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms
• Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing - See SUNCT headache
• Short-limb skeletal dysplasia with severe combined immunodeficiency
• Short-rib thoracic dysplasia 6 with or without polydactyly - See Short rib-polydactyly syndrome, Majewski type
• Shoulder and girdle defects-familial intellectual disability syndrome - See Shoulder girdle defect mental retardation familial
• Shoulder girdle defect mental retardation familial
• 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
• SHSF2 - See Split hand/foot malformation X-linked
• Shulman syndrome - See Eosinophilic fasciitis
• Shwachman-Bodian syndrome - See Shwachman-Diamond syndrome
• Shwachman-Diamond syndrome
• Shwartzman phenomenon
• Shy-Dragger syndrome (formerly) - See Multiple system atrophy
• Shy-Magee syndrome - See Central core disease
• SI deficiency - See Congenital sucrase-isomaltase deficiency
• SIADH - See Syndrome of inappropriate antidiuretic hormone - not a rare disease
• Sialadenitis
• Sialadenitis, xanthogranulomatous - See Xanthogranulomatous sialadenitis
• Sialic acid storage disease - See Free sialic acid storage disease
• Sialidase deficiency - See Sialidosis, type II
• Sialidosis type I
• Sialidosis, type II
• Sialoadenitis - See Sialadenitis
• Sialuria - See Sialuria, French type
• Sialuria, Finnish type - See Free sialic acid storage disease
• Sialuria, French type
• Sialuria, infantile form - See Free sialic acid storage disease
• SIANRF - See Spinal muscular atrophy with respiratory distress 1
• Siberian Plague - See Anthrax
• Sicca syndrome - See Sjogren syndrome - not a rare disease
• Sickle beta thalassemia
• Sickle cell - beta-thalassemia disease - See Sickle beta thalassemia
• Sickle cell - hemoglobin C disease - See Hemoglobin SC disease
• Sickle cell - hemoglobin D disease
• Sickle cell - hemoglobin E disease - See Hemoglobin SE disease - not a rare disease
• Sickle cell anemia
• Sickle cell disease associated with an other hemoglobin anomaly - See Hemoglobinopathy
• Sickle cell-beta-thalassemia disease syndrome - See Sickle beta thalassemia
• Sickle cell-hemoglobin C disease syndrome - See Hemoglobin SC disease
• Sickle cell-hemoglobin D disease syndrome - See Sickle cell - hemoglobin D disease
• Sickle cell-hemoglobin E disease syndrome - See Hemoglobin SE disease - not a rare disease
• Sickle delta beta thalassemia
• Sickling disorder due to hemoglobin S - See Sickle cell anemia
• Sickness of disembarkment - See Mal de debarquement syndrome
• SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome - See Susac syndrome
• SIDDT - See Sudden infant death with dysgenesis of the testes syndrome
• Siderius Hamel syndrome - See X-linked intellectual disability, Siderius type
• Sideroblastic anemia - not a rare disease
• 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 (formerly) - See Pearson syndrome
• Sideroblastic anemia with spinocerebellar ataxia - See Anemia sideroblastic and spinocerebellar ataxia
• Sideroblastic anemia X-linked - See X-linked sideroblastic anemia
• Sideropenic dysphagia - See Plummer Vinson syndrome
• Siderosis
• Sidransky Feinstein Goodman syndrome - See Ichthyosis cheek eyebrow syndrome
• SIDS - See Sudden infant death syndrome
• Siegler Brewer Carey syndrome
• Siewert syndrome - See Kartagener syndrome
• SIgMD - See Selective IgM deficiency
• 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 Russell syndrome - See Russell-Silver 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
• 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
• Simultanagnosia
• 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 dysplasia - See Singleton-Merten syndrome
• 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
• Sinusoidal obstruction syndrome - See Hepatic veno-occlusive disease
• 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 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
• Sjogren Larsson syndrome - See Sjogren-Larsson syndrome
• Sjogren syndrome - not a rare disease
• Sjogren-Gougerot syndrome - See Sjogren syndrome - not a rare disease
• 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
• SJS/TEN - See Stevens-Johnson syndrome/toxic epidermal necrolysis
• SJS1 - See Schwartz Jampel syndrome
• 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 - SeeSCARF syndrome
• 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 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 Greenberg dysplasia
• Skeletal dysplasia, San Diego type
• Skeletal dysplasias - not a rare disease
• Skeletal-extraskeletal angiomatosis
• Skeleton skin brain syndrome - See Severe achondroplasia with developmental delay and acanthosis nigricans
• Skin anthrax - See Cutaneous anthrax
• Skin cancer - not a rare disease
• Skin cancer, non melanoma, childhood
• Skin fragility woolly hair syndrome - See Skin fragility-woolly hair-palmoplantar keratoderma syndrome
• Skin fragility-woolly hair-palmoplantar keratoderma syndrome
• Skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation - SeeMastocytosis cutaneous with short stature conductive hearing loss and microtia
• Skin peeling syndrome - See Peeling skin syndrome
• Slavotinek Pike Mills Hurst syndrome
• SLC13A5 deficiency - See Early infantile epileptic encephalopathy 25
• SLC29A3 spectrum disorder - See Histiocytosis-lymphadenopathy plus syndrome
• SLC35A1-CDG - See SLC35A1-CDG (CDG-IIf)
• SLC35A1-CDG (CDG-IIf)
• SLC35A2-CDG
• SLC35C1-CDG (CDG-IIc)
• SLC4A1-associated distal renal tubular acidosis
• SLC6A3-Related Dopamine Transporter Deficiency Syndrome - See Dopamine transporter deficiency syndrome
• SLE - See Lupus - not a rare disease
• Sleeping sickness - See Trypanosomiasis, Human East-African
• Slipped capital femoral epiphysis - not a rare disease
• 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 Short-limb skeletal dysplasia with severe combined immunodeficiency
• SLSJ syndrome - See MPI-CDG (CDG-Ib)
• Slti Salem syndrome
• Sly syndrome - See Mucopolysaccharidosis type VII
• SM syndrome - See Singleton-Merten syndrome
• SMA - See Proximal spinal muscular atrophy
• SMA - See Spinal muscular 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 1 - See Spinal muscular atrophy 1
• SMA type I - See Spinal muscular atrophy 1
• 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
• SMALED1 - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• SMA-LED1 - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• SMALED2 - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
• Small benign fibrovascular tumor of the dermal part of the hair disk - See Familial multiple trichodiscomas
• Small bowel adenocarcinoma - See Small Intestinal Adenocarcinoma
• 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
• Small Cell Neuroendocrine Carcinoma of the Lung - See Small cell lung cancer
• Small cell variant of anaplastic large cell lymphoma - See Anaplastic small cell lymphoma
• Small Intestinal Adenocarcinoma
• Small intestinal atresia - See Atresia of small intestine
• Small intestinal atresia - See Jejunal atresia
• Small intestine atresia - See Atresia of small intestine
• Small intestine cancer
• Small intestine cancer, childhood
• Small patella syndrome
• Smallpox
• SMARD1 - See Spinal muscular atrophy with respiratory distress 1
• 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
• SMEI - See Dravet syndrome
• Smith Fineman Myers syndrome - See Mental retardation Smith Fineman Myers type
• Smith Lemli Opitz syndrome - See Smith-Lemli-Opitz syndrome
• Smith McCort dysplasia
• Smith-Fineman-Myers syndrome - See Juberg Marsidi syndrome
• Smith-Kingsmore syndrome
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• Smith-McCort dwarfism - 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 Stiff person syndrome
• SMS - See Smith-Magenis syndrome
• SNDI - See Striatonigral degeneration infantile
• SNE - See Leigh syndrome
• Sneddon syndrome
• Sneddon Wilkinson disease - See Subcorneal pustular dermatosis
• Sneddon's syndrome - See Sneddon syndrome
• Sneddon-Wilkinson disease - See Subcorneal pustular dermatosis
• 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 spectrum
• Sodium channel muscle disease - See Hyperkalemic periodic paralysis
• Soft tissue sarcoma
• Soft tissue sarcoma childhood
• Sohar-Crisponi syndrome - See Cold-induced sweating syndrome
• Sohval Soffer syndrome
• Solitary histiocytoma - See Reticulohistiocytoma
• Solitary mastocytoma - See Cutaneous mastocytoma
• Solitary median maxillary central incisor - See Single upper central incisor
• Solitary median maxillary central incisor syndrome - See Single upper central incisor
• Solitary plasmacytoma - See Plasmacytoma
• Solitary reticulohistiocytosis - See Reticulohistiocytoma
• 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
• 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-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
• 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
• SOST - See Sclerosteosis
• Sotos syndrome
• South american blastomycosis - See Paracoccidioidomycosis
• South American pemphigus - See Pemphigus and fogo selvagem
• South American trypanosomiasis - See Chagas disease - not a rare disease
• SOX2 anophthalmia syndrome - See Syndromic microphthalmia, type 3
• SOX2-related eye disorders - See Syndromic microphthalmia, type 3
• Spahr type Metaphyseal chondrodysplasia - See Metaphyseal chondrodysplasia Spahr type
• Sparse hair and mental retardation - See Nicolaides-Baraitser syndrome
• 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 - SeeThumb deformity, alopecia, pigmentation anomaly
• Spasmodic dysphonia
• Spasmodic torticollis - See Cervical dystonia
• Spastic angina with healthy coronary artery
• 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 - SeeMousa Al din Al Nassar syndrome
• Spastic diplegia cerebral palsy
• Spastic diplegia infantile type
• Spastic dysphonia - See Spasmodic dysphonia
• 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, childhood-onset, with distal muscle wasting - See Troyer syndrome
• Spastic paraplegia - intellectual deficit - thin corpus callosum - See Spastic paraplegia 11
• Spastic paraplegia - nephritis - deafness - See Fitzsimmons Walson Mellor syndrome
• 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 - See Troyer syndrome
• Spastic paraplegia 20, autosomal recessive - See Troyer syndrome
• 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 32
• Spastic paraplegia 35, autosomal recessive - See Fatty acid hydroxylase-associated neurodegeneration
• Spastic paraplegia 39
• Spastic paraplegia 4
• Spastic paraplegia 47 - See AP-4-Associated Hereditary Spastic Paraplegia
• 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 facial cutaneous lesions
• Spastic paraplegia neuropathy poikiloderma
• 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, autosomal recessive, Troyer type - See Troyer syndrome
• Spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy - SeeFitzsimmons Walson Mellor syndrome
• Spastic paraplegia-epilepsy-intellectual disability syndrome
• Spastic paraplegia-glaucoma-intellectual disability syndrome
• Spastic quadriplegia cerebral palsy - See Cerebral palsy spastic quadriplegic
• Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome - See Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
• Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome - See Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• Spastic quadriplegic cerebral palsy - See Cerebral palsy spastic quadriplegic
• Spastic tetraplegia cerebral palsy - See Cerebral palsy spastic quadriplegic
• Spastic tetraplegia, thin corpus callosum, and progressive microcephaly - See Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
• Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• Spasticity multiple exostoses
• SPATCCM - See Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• 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 Childhood apraxia of speech
• Speech-language disorder type 1 - See Childhood apraxia of speech
• Speech-language disorder-1 - See Childhood apraxia of speech
• SPEL syndrome - See Syndactyly-polydactyly-earlobe syndrome
• SPEMR - See Spastic paraplegia-epilepsy-intellectual disability syndrome
• SPENCD - See Spondyloenchondrodysplasia
• Spermatogenesis arrest
• SPERMATOGENIC FAILURE 5 - See Macrozoospermia
• SPERMATOGENIC FAILURE 9 - See Globozoospermia
• SPG - See Hereditary spastic paraplegia
• SPG 23 - See Spastic paraplegia 23
• SPG1 - See L1 syndrome
• 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 Troyer syndrome
• 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
• SPG32 - See Spastic paraplegia 32
• SPG35 - See Fatty acid hydroxylase-associated neurodegeneration
• SPG39 - See Spastic paraplegia 39
• SPG3A - See Spastic paraplegia 3
• SPG4 - See Spastic paraplegia 4
• SPG49 - See Autosomal recessive spastic paraplegia type 49
• 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 - See Macrozoospermia
• SPGF9 - See Globozoospermia
• Sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate - See Sakoda complex
• Spherocytic anemia - See Hereditary spherocytosis
• Spheroid body myopathy
• 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 type A
• Sphingomyelinase deficiency - See Niemann-Pick disease type A
• Spiegler-Brooke syndrome - See Brooke-Spiegler syndrome
• Spielmeyer Sjogren disease - See Neuronal ceroid lipofuscinosis 3
• Spina bifida
• Spina bifida hypospadias
• Spina bifida occulta - not a rare disease
• Spinal and bulbar muscular atrophy - See Kennedy disease
• Spinal arachnoiditis - See Arachnoiditis
• Spinal arteriovenous metameric syndrome - See Cobb syndrome
• Spinal atrophy ophthalmoplegia pyramidal syndrome
• Spinal bulbar motor neuropathy
• Spinal CSF leak - See Cerebrospinal fluid leak
• Spinal disc herniation with autosomal recessive spastic paraplegia - See Spastic paraplegia 25
• Spinal dysraphism - See Spina bifida
• Spinal intradural arachnoid cysts
• Spinal meningioma
• 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 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, lower extremity-predominant 1, AD - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Spinal muscular atrophy, lower extremity-predominant 1, dominant - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
• Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• 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
• Spinobulbar muscular atrophy - See Kennedy disease
• Spinocerebellar ataxia
• 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 and 22
• 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
• Spinocerebellar ataxia 38 - See Hereditary ataxia
• Spinocerebellar ataxia 4
• Spinocerebellar ataxia 40
• 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 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 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 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 17 - See Spinocerebellar ataxia 17
• Spinocerebellar ataxia type 18 - See Spinocerebellar ataxia 18
• Spinocerebellar ataxia type 2 - See Spinocerebellar ataxia 2
• Spinocerebellar ataxia type 20 - See Spinocerebellar ataxia 20
• 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 30 - See Spinocerebellar ataxia 30
• Spinocerebellar ataxia type 31 - See Spinocerebellar ataxia 31
• Spinocerebellar ataxia type 4 - See Spinocerebellar ataxia 4
• Spinocerebellar ataxia type 40 - See Spinocerebellar ataxia 40
• 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 - See Spinocerebellar ataxia autosomal recessive with axonal neuropathy
• Spinocerebellar ataxia with axonal neuropathy type 1 - See Spinocerebellar ataxia autosomal recessive with axonal neuropathy
• Spinocerebellar ataxia with axonal neuropathy type 2 - See Ataxia with Oculomotor Apraxia Type 2
• 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 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
• 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
• Spleen cancer - See Splenic neoplasm
• Spleen neoplasm - See Splenic neoplasm
• Splenic agenesis syndrome - See Ivemark syndrome
• Splenic infarcts
• Splenic neoplasm
• Splenic ptosis - See Wandering spleen
• Splenogonadal fusion limb defects micrognatia
• Splenogonadal fusion limb defects syndrome - See Splenogonadal fusion limb defects micrognatia
• Splenomegaly
• Splenoptosis - See Wandering spleen
• Split cord malformation - See Split spinal cord malformation
• Split cord malformation type 1 - See Split spinal cord malformation
• 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 X-linked
• Split spinal cord malformation
• Split-foot deformity with ectrodactyly and mandibulofacial dysostosis - See Patterson-Stevenson-Fontaine syndrome
• Split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects - See Split hand urinary anomalies spina bifida
• 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
• Spondylocarpotarsal syndrome - See Spondylocarpotarsal synostosis syndrome
• Spondylocarpotarsal synostosis syndrome
• Spondylocostal dysostosis
• Spondylocostal dysostosis 1 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 1 autosomal recessive - See Spondylocostal dysostosis
• Spondylocostal dysostosis 2 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 2, autosomal recessive - See Spondylocostal dysostosis
• Spondylocostal dysostosis 3 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 3, autosomal recessive - See Spondylocostal dysostosis
• Spondylocostal dysostosis 4 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 4, autosomal recessive - See Spondylocostal dysostosis
• Spondylocostal dysostosis 5 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 6 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 6, autosomal recessive - See Spondylocostal dysostosis
• Spondylocostal dysplasia - See Spondylocostal dysostosis
• Spondylodysplastic Ehlers-Danlos syndrome
• Spondyloenchondrodysplasia
• Spondyloenchondromatosis - See Spondyloenchondrodysplasia
• Spondylo-epimetaphyseal dysplasia - See Spondyloepimetaphyseal dysplasia X-linked
• Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification - See Spondylometaepiphyseal dysplasia short limb-hand 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 Spondyloepimetaphyseal dysplasia Missouri type
• Spondyloepimetaphyseal dysplasia with hypotrichosis
• Spondyloepimetaphyseal dysplasia with joint laxity - See Spondyloepimetaphyseal dysplasia joint laxity
• 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 X-linked
• Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
• Spondyloepimetaphyseal dysplasia, Aggrecan type
• Spondyloepimetaphyseal dysplasia, Missouri type - See Spondyloepimetaphyseal dysplasia Missouri type
• Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome - See Spondylometaepiphyseal dysplasia short limb-hand type
• Spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency - See Roifman syndrome
• Spondyloepiphyseal dysplasia
• Spondyloepiphyseal dysplasia congenita
• Spondyloepiphyseal dysplasia Maroteaux type
• Spondyloepiphyseal dysplasia nephrotic syndrome - See Schimke immunoosseous dysplasia
• Spondyloepiphyseal dysplasia pseudoachondroplastic 2 - See Pseudoachondroplastic dysplasia 2
• Spondyloepiphyseal dysplasia tarda - progressive arthropathy - See Progressive pseudorheumatoid dysplasia
• Spondyloepiphyseal dysplasia tarda with progressive arthropathy - See Progressive pseudorheumatoid dysplasia
• Spondyloepiphyseal dysplasia tarda X-linked
• Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome - See Progressive pseudorheumatoid dysplasia
• Spondyloepiphyseal dysplasia, congenital type - See Spondyloepiphyseal dysplasia congenita
• Spondyloepiphyseal dysplasia, Maroteaux type - See Spondyloepiphyseal dysplasia Maroteaux type
• Spondyloepiphyseal dysplasia, pseudoachondroplastic - See Pseudoachondroplasia
• Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
• 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 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 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, Kozlowski type
• Spondyloperipheral dysplasia
• Spondyloperipheral dysplasia with short ulna - See Spondyloperipheral dysplasia
• Spondylospinal thoracic dysostosis
• Spondylothoracic dysostosis
• Spondylothoracic dysostosis - See Spondylocostal dysostosis
• Spondylothoracic dysplasia - See Spondylothoracic dysostosis
• Sponge kidney - See Medullary sponge kidney
• 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 - See Primary spontaneous pneumothorax
• 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
• Sprengel deformity
• Sprengel's deformity - See Sprengel deformity
• Sprengel's shoulder - See Sprengel deformity
• SPS - See Stiff person syndrome
• SPSMA - See Amyotrophy, neurogenic scapuloperoneal, New England type
• SPTCL - See Subcutaneous panniculitis-like T-cell lymphoma
• Spun glass hair - See Uncombable hair syndrome
• Squamous cell carcinoma - not a rare disease
• Squamous cell carcinoma of the head and neck - not a rare disease
• Squamous cell skin cancer - See Squamous cell carcinoma - not a rare disease
• SRD5A3-CDG - See SRD5A3-CDG (CDG-Iq)
• SRD5A3-CDG (CDG-Iq)
• SRN1 - See Nephrotic syndrome, idiopathic, steroid-resistant
• SRPS type 1 - See Short rib-polydactyly syndrome type 1
• SRPS type 2 - See Short rib-polydactyly syndrome, Majewski type
• 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 spinal cord malformation
• SSD - See X-linked ichthyosis
• SSDD - See X-linked ichthyosis
• SSPE - See Subacute sclerosing panencephalitis
• SSR4-CDG
• SSS - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• 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 GM3 synthase deficiency
• Stachybotrys atra - See Stachybotrys chartarum
• Stachybotrys chartarum
• Stale fish syndrome - See Trimethylaminuria
• Stalker Chitayat syndrome
• Stanescu osteosclerosis - See Craniofacial dysostosis with diaphyseal hyperplasia
• Stankiewicz-Isidor syndrome
• Stapedo-vestibular ankylosis - See Progressive deafness with stapes fixation
• Staphylococcal food poisoning
• Staphylococcal toxic shock syndrome
• STAR syndrome
• Stargardt disease
• 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
• Static encephalopathy of childhood with neurdegeneration in adulthood - See Beta-Propeller Protein-Associated Neurodegeneration
• STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD - See Beta-Propeller Protein-Associated Neurodegeneration
• Stationary night blindness, Oguchi type - See Oguchi disease
• Status epilepticus
• Status epilepticus owing to presumed encephalitis - See Febrile infection-related epilepsy syndrome
• Steatocystoma multiplex
• 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
• 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 - See Stenotrophomonas maltophilia infection
• Stenotrophomonas maltophilia infection
• Stern Lubinsky Durrie syndrome - See Corneodermatoosseous syndrome
• Sternal cleft
• Sternal nonunion with supraumbilical raphe - See Supraumbilical midabdominal raphe and facial cavernous hemangiomas
• Steroid 11-beta-hydroxylase deficiency - See 11-beta-hydroxylase 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 encephalopathy
• Sterol 27-hydroxylase deficiency - See Cerebrotendinous xanthomatosis
• Sterol c5-desaturase deficiency - See Lathosterolosis
• STEROL CARRIER PROTEIN 2 DEFICIENCY - See Leukoencephalopathy - dystonia - motor neuropathy
• Stevens-Johnson syndrome - See Stevens-Johnson syndrome/toxic epidermal necrolysis
• Stevens-Johnson syndrome toxic epidermal necrolysis spectrum - See Stevens-Johnson syndrome/toxic epidermal necrolysis
• Stevens-Johnson syndrome/toxic epidermal necrolysis
• Stewart Treves syndrome
• STHE - See Hereditary hyperekplexia
• Stickler syndrome
• Stickler syndrome nonocular type - See Stickler syndrome, type 3
• Stickler syndrome type 1
• Stickler syndrome, beaded vitreous type - See Stickler syndrome, type 2
• Stickler syndrome, membranous vitreous type - See Stickler syndrome type 1
• 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
• Sticky platelet syndrome - not a rare disease
• Stiff lung - See Acute respiratory distress syndrome
• Stiff man syndrome - See Stiff person syndrome
• Stiff person syndrome
• Stiff person syndrome and related disorders - See 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
• 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
• 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 deafness sinus arrhythmia
• Stomach cancer
• Stomach cancer, childhood
• Stomach carcinoma - See Stomach cancer
• Stomach carcinoma, childhood - See Stomach cancer, childhood
• Stomach Lymphoma, Non-Hodgkins type - See Gastric Non-Hodgkin Lymphoma
• Stomatocytosis I - See Overhydrated hereditary stomatocytosis
• Stomatocytosis, cold-sensitive - See Pseudohyperkalemia Cardiff
• Stomatodynia - See Burning mouth syndrome - not a rare disease
• 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 palsy of trochlear nerve
• Straight-chain Acyl-CoA oxidase deficiency - See Pseudoneonatal adrenoleukodystrophy
• Strasburger-Hawkins-Eldridge syndrome - See Proximal symphalangism
• Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome - See Proximal symphalangism
• Stratton Parker syndrome - See Short stature wormian bones dextrocardia
• Stratton-Garcia-Young syndrome - See Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
• Streeter anomaly - See Amniotic band syndrome
• Streptococcal Group A invasive disease
• Streptococcal Group B invasive disease
• Stress cardiomyopathy - See Broken heart syndrome
• Stress polycythemia - See Pseudopolycythaemia
• Stress-induced cardiomyopathy - See Broken heart syndrome
• 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 Primary Familial Brain Calcification
• Strongyloidiasis
• Strudwick syndrome - See Spondyloepimetaphyseal dysplasia Strudwick type
• Strumpell disease - See Spastic paraplegia 3
• Strümpell-Lorrain disease - See Hereditary spastic paraplegia
• 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
• Stuttgart disease - See Leptospirosis
• Stuve-Wiedemann syndrome
• Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome - See Stuve-Wiedemann syndrome
• STWS - See Stuve-Wiedemann syndrome
• STXBP1 disorders - See Early infantile epileptic encephalopathy 4
• STXBP1-related early-onset encephalopathy - See Early infantile epileptic encephalopathy 4
• Styloid-stylohyoid syndrome - See Eagle syndrome
• Subacute Berylliosis - See Beryllium disease
• Subacute cerebellar degeneration
• Subacute cutaneous lupus - See Lupus - not a rare disease
• Subacute necrotizing encephalomyelopathy maternally inherited - See Mitochondrial DNA-associated Leigh syndrome
• Subacute necrotizing encephalopathy - See Leigh syndrome
• Subacute sclerosing panencephalitis
• Subacute spongiform encephalopathy, Gerstmann-Straussler type - See Gerstmann-Straussler-Scheinker disease
• Subaortic stenosis - See Subvalvular aortic stenosis
• Subaortic stenosis short stature syndrome
• Subcorneal pustular dermatitis - See Subcorneal pustular dermatosis
• Subcorneal pustular dermatosis
• Subcortical band heterotopia
• Subcortical vascular encephalopathy, progressive - See Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
• Subcutaneous panniculitis-like T-cell lymphoma
• Subependymal astrocytoma (formerly) - See Subependymoma
• Subependymal giant cell astrocytoma
• Subependymal nodular heterotopia
• Subependymoma
• Subglottic bar, congenital heart disease and low stature - See Gay Feinmesser Cohen syndrome
• Submacular cysticercosis - See Cysticercosis
• Submandibular, ocular, and rectal pain with flushing - See Paroxysmal extreme pain disorder
• Subpulmonary stenosis
• 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 semialdehyde dehydrogenase deficiency
• Succinylcholine Sensitivity - See Pseudocholinesterase deficiency
• Succinyl-CoA acetoacetate 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
• Sudden Arrhythmia Death Syndrome
• Sudden arrhythmic death syndrome - See Sudden Arrhythmia Death Syndrome
• Sudden deafness - See Sudden sensorineural hearing loss
• Sudden infant death - dysgenesis of the testes - See Sudden infant death with dysgenesis of the testes syndrome
• Sudden infant death syndrome
• Sudden infant death with dysgenesis of the testes syndrome
• Sudden infant death-dysgenesis of the testes syndrome - See Sudden infant death with dysgenesis of the testes syndrome
• Sudden onset of unilateral flushing and sweating - See Harlequin syndrome
• Sudden sensorineural hearing loss
• Sudden unexpected 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
• Sulfocysteinuria - See Sulfite oxidase deficiency
• Summerskill syndrome - See Benign recurrent intrahepatic cholestasis 1
• Summerskill-Walshe-Tygstrup syndrome - See Benign recurrent intrahepatic cholestasis
• Summertime actinic lichenoid eruption - See Actinic lichen planus
• SUNA - See Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms
• SUNA headache - See Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms
• SUNCT headache
• SUNCT syndrome - See SUNCT headache
• Suo yang - See Koro
• Superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality - See Sammartino Decreccio syndrome
• Superficial lymphangioma - See Microcystic lymphatic malformation
• Superficial lymphatic malformation - See Microcystic lymphatic malformation
• Superficial siderosis of the central nervous system
• Superficial spreading melanoma
• Superior canal dehiscence syndrome - See Superior semicircular canal dehiscence syndrome
• Superior limbic keratoconjunctivitis
• Superior mesenteric artery syndrome
• Superior oblique oculomotor palsy, familial congenital - See Familial congenital palsy of trochlear nerve
• Superior Oblique Tendon Sheath syndrome - See Brown syndrome
• Superior semicircular canal dehiscence syndrome
• Supernumerary der(22) syndrome - See Emanuel syndrome
• Supernumerary der(22),t(11;22) syndrome - See Emanuel syndrome
• Supernumerary digits - See Polydactyly
• Supernumerary nipple - not a rare disease
• 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 Embryonal Tumor, NOS - See Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
• Supratentorial Embryonal Tumor, Not Otherwise Specified - See Supratentorial primitive neuroectodermal tumor
• Supratentorial primitive neuroectodermal tumor
• Supratentorial primitive neuroectodermal tumors, childhood - See Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
• Supraumbilical midabdominal raphe and facial cavernous hemangiomas
• Supravalvar aortic stenosis, Eisenberg type - See Supravalvular aortic stenosis
• Supravalvular aortic stenosis
• Surdo-cardiac syndrome - See Jervell Lange-Nielsen syndrome
• Susac syndrome
• Susceptibility to acute infection-induced encephalopathy-3 - See Infection-induced acute encephalopathy 3
• Susceptibility to acute necrotizing encephalopathy - See Infection-induced acute encephalopathy 3
• Susceptibility to Autism, 14B - See 16p11.2 duplication
• Susceptibility to autism, X-linked - See X-linked susceptibility to autism-4
• Susceptibility to Infection-Induced Acute Encephalopathy 3 - See Infection-induced acute encephalopathy 3
• Susceptibility to severe cutaneous adverse reaction ITY TO - See Stevens-Johnson syndrome/toxic epidermal necrolysis
• Susceptibility to Tinea imbricata - See Kerion celsi
• Susceptibility to valproate embryopathy - See Fetal valproate syndrome
• 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
• 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
• Symphalangism brachydactyly syndrome - See Multiple synostoses syndrome 1
• Symphalangism distal
• Symphalangism with multiple anomalies of hands and feet
• Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
• Symphalangism, proximal, 1A (subtype) - See Proximal symphalangism
• Symphalangism, proximal, 1B (subtype) - See Proximal symphalangism
• Symphalangism, short stature, skeletal anomalies, and accessory testis - See Theodor Hertz Goodman syndrome
• Syncopal paroxysmal tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
• Syncope familial neurocardiogenic - See Familial neurocardiogenic syncope
• Syndactylic oxycephaly - See Apert syndrome
• Syndactyly - not a rare disease
• 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 four and five - See Syndactyly type 3
• Syndactyly of the ring and little finger - See Syndactyly type 3
• Syndactyly type 1
• Syndactyly type 2
• Syndactyly type 3
• Syndactyly type 4
• Syndactyly type 5
• Syndactyly type 7 - See Syndactyly Cenani Lenz type
• 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, preaxial polydactyly and sternal deformity - See Acropectoral syndrome
• Syndactyly, telecanthus, anogenital and renal malformations - See STAR syndrome
• Syndactyly-ectodermal dysplasia-cleft/lip palate - See Zlotogora syndrome
• Syndactyly-polydactyly-earlobe syndrome
• Syndermotic cataract and congenital ichthyosis - See Cataract and congenital ichthyosis
• Syndromatic diarrhea - See Trichohepatoenteric 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 - not a rare disease
• Syndrome of inappropriate antidiuretic hormone secretion - See Syndrome of inappropriate antidiuretic hormone - not a rare disease
• 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 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 transient headache and neurological deficits with cerebrospinal fluid lymphocytosis: HaNDL - See HaNDL syndrome
• 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 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 diarrhea - See Trichohepatoenteric syndrome
• Syndromic diarrhea/Tricho-hepato-enteric syndrome - See Trichohepatoenteric syndrome
• Syndromic microphthalmia type 1 - See Lenz microphthalmia syndrome
• Syndromic microphthalmia type 2 - See Oculofaciocardiodental syndrome
• 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 with linear skin defects syndrome
• Syndromic microphthalmia type 8 - See Microphthalmia syndromic 8
• Syndromic microphthalmia, type 3
• Syndromic microphthalmia-12
• Syndromic multisystem autoimmune disease - See ITCH E3 ubiquitin ligase deficiency
• SYNE1-related autosomal recessive cerebellar ataxia - See Spinocerebellar ataxia autosomal recessive 8
• Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia and Autism - See SYNGAP1-related non-syndromic intellectual disability
• SYNGAP1 syndrome - See SYNGAP1-related non-syndromic intellectual disability
• SYNGAP1-related non-syndromic intellectual disability
• SYNGAP1-related NSID - See SYNGAP1-related non-syndromic intellectual disability
• Syngnathia cleft palate
• Syngnathia multiple anomalies
• Synostoses multiple with brachydactyly - See Multiple synostoses syndrome 1
• Synostoses, tarsal, carpal, and digital
• Synostosis of talus and calcaneus short stature
• Synovial cancer
• Synovial Chondromatosis
• Synovial chondromatosis, familial with dwarfism
• Synovial osteochondromatosis - See Synovial Chondromatosis
• 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
• Synpolydactyly - See Syndactyly type 2
• SYNS1 - See Multiple synostoses syndrome 1
• SYNS2 - See Multiple synostoses syndrome 2
• Synspondylism congenital - See Spondylocarpotarsal synostosis syndrome
• Syphilitic aseptic meningitis
• Syphilitic meningitis - See Syphilitic aseptic meningitis
• Syphilitic myelopathy
• Syringobulbia
• Syringocystadenoma papilliferum
• Syringoma - not a rare disease
• Syringomyelia
• Systemic AL amyloidsis - See AL amyloidosis
• Systemic candida infections - See Systemic candidiasis
• Systemic candidiasis
• Systemic capillary leak syndrome
• Systemic exertion intolerance disease - See Chronic fatigue syndrome - not a rare disease
• Systemic hemosiderosis due to aceruloplasminemia - See Aceruloplasminemia
• Systemic IgG4-related plasmacytic syndrome - See IgG4-related disease
• Systemic IgG4-related sclerosing syndrome - See IgG4-related disease
• Systemic juvenile idiopathic arthritis - See Systemic onset juvenile idiopathic arthritis
• Systemic lupus erythematosus - See Lupus - not a rare disease
• 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 Limited systemic sclerosis
• SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TO - See CREST syndrome
• Systemic-onset JIA - See Systemic onset juvenile idiopathic arthritis
• Systemic-onset juvenile idiopathic arthritis - See Systemic onset juvenile idiopathic arthritis