Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program S/1 ENGLISH

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





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Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• 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 syndrome
• Sacral agenesis syndrome - See Caudal regression syndrome
• Sacral defect with anterior meningocele
• Sacral hemangiomas multiple congenital abnormalities
• Sacral meningocele conotruncal heart defects
• Sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck - See Sacral meningocele conotruncal heart defects
• Sacral neural cysts - See Tarlov cysts
• Sacral perineural cysts - See Tarlov cysts
• Sacral plexopathy
• Sacral regression syndrome - See Caudal regression syndrome
• Sacral Tarlov cysts - See Tarlov cysts
• Sacrococcygeal Teratoma
• SACS - See Spastic ataxia Charlevoix-Saguenay type
• SADDAN dysplasia - See Severe achondroplasia with developmental delay and acanthosis nigricans
• SADS - See Sudden Arrhythmia Death Syndrome
• Saethre-Chotzen syndrome
• Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis - See Cardiocranial syndrome
• Sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th - See Pfeiffer Tietze Welte syndrome
• Sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus - See Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
• Saguenay Lac Saint Jean syndrome - See MPI-CDG (CDG-Ib)
• Saito Kuba Tsuruta syndrome
• Sakati syndrome
• Sakati-Nyhan syndrome - See Sakati syndrome
• Sakoda complex
• Salamon syndrome - See Woolly hair hypotrichosis everted lower lip and outstanding ears
• Salcedo syndrome
• Saldino-Mainzer syndrome - See Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
• Saldino-Noonan syndrome - See Short rib-polydactyly syndrome type 1
• Salivary gland cancer, adult
• Salivary gland cancer, childhood
• Salivary gland inflammation - See Sialadenitis
• Salivary gland type cancer of the breast
• Salla 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
• 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
• Schiel Stengel Rutkowski Syndrome - See Narrow oral fissure short stature cone shaped epiphyses
• Schilbach-Rott syndrome - See Hypotelorism cleft palate hypospadias
• Schimke immunoosseous dysplasia
• Schimke immuno-osseous dysplasia - See Schimke immunoosseous dysplasia
• Schimke syndrome - See Schimke immunoosseous dysplasia
• Schimmelpenning Feuerstein Mims syndrome - See Linear nevus sebaceous syndrome
• Schindler disease type 1
• Schindler disease type 2 - See Kanzaki disease
• 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
• Schmitt Gillenwater Kelly syndrome
• Schneckenbecken dysplasia
• Schnitzler syndrome
• Schnyder corneal dystrophy - See Corneal dystrophy crystalline of Schnyder
• Schnyder crystalline corneal dystrophy - See Corneal dystrophy crystalline of Schnyder
• 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
• Sclerocornea, Syndactyly, ambiguous genitalia
• 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 with unilateral unsegmented bar
• Scoliosis, congenital with unilateral unsegmented bar - See Spondylocarpotarsal synostosis syndrome
• Scorbutus - See Scurvy
• SCOT deficiency
• Scott Aarskog syndrome - See Aarskog syndrome
• Scott Bryant Graham syndrome
• Scott craniodigital syndrome - See Scott Bryant Graham syndrome
• Scott craniodigital syndrome with mental retardation - See Scott Bryant Graham syndrome
• Scott syndrome
• Scott-Bryant-Graham syndrome - See Scott Bryant Graham syndrome
• Scott-Taor syndrome - See Small patella syndrome
• SCS - See Saethre-Chotzen syndrome
• SCT - See Spondylocarpotarsal synostosis syndrome
• Scurvy
• SD/THE - See Trichohepatoenteric syndrome
• SD1 - See Syndactyly type 1
• SDAM - See Sacral defect with anterior meningocele
• SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 2) - See Paragangliomas 2
• SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome - See Paragangliomas 4
• SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 3) - See Paragangliomas 3
• SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 1) - See Paragangliomas 1
• SDHx-related paraganglioma-pheochromocytoma - See Hereditary paraganglioma-pheochromocytoma
• 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 neonatal recessive form
• Seizures mental retardation hair dysplasia
• Seizures, benign familial infantile, 1 - See Convulsions, benign familial infantile, 1
• Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance - See SeSAME syndrome
• 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
• Semmekrot Haraldsson Weemaes syndrome
• 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 with Pituitary dwarfism - See Winkelman Bethge Pfeiffer syndrome
• Sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5 - See Pfeiffer Kapferer syndrome
• Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear - See Deafness, X-linked 2
• Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities - See Deafness enamel hypoplasia nail defects
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• Sensory neuropathy type 1
• 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
• Sequeiros Sack syndrome
• 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 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 anemia hydrops fetalis immune disorder and absent thumbs - See Semmekrot Haraldsson Weemaes syndrome
• 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 Autosomal recessive protein C deficiency
• Severe hereditary thrombophilia due to congenital protein C deficiency - See Protein C deficiency - not a rare disease
• 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-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
• Shaver disease - See Shaver's disease
• Shaver's disease
• 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
• Shith Filkins syndrome
• 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 broad great toe macrocranium
• Short foot/brachydactyly of toes, camptodactyly , brachydactyly - See Camptobrachydactyly
• Short limb dwarf edema iris coloboma
• Short limb dwarf lethal Colavita Kozlowski type
• Short limb dwarf, edema, iris coloboma - See Wegmann Jones Smith syndrome
• Short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation - See Spondyloepimetaphyseal dysplasia Sponastrime type
• Short limbed dwarfism with extensive stippling - See Astley-Kendall syndrome
• Short limbs abnormal face congenital heart disease
• Short limbs subluxed knees cleft palate
• Short rib polydactyly syndrome Beemer-Langer type - See Short rib-polydactyly syndrome type 4
• Short rib polydactyly syndrome Verma Naumoff type - See Short rib-polydactyly syndrome type 3
• Short rib-polydactyly syndrome type 3
• Short rib-polydactyly syndrome Beemer type - See Short rib-polydactyly syndrome type 4
• Short rib-polydactyly syndrome Majewski type - See Short rib-polydactyly syndrome type 2
• Short rib-polydactyly syndrome Saldino-Noonan type - See Short rib-polydactyly syndrome type 1
• Short rib-polydactyly syndrome type 1
• Short rib-polydactyly syndrome type 2
• Short rib-polydactyly syndrome type 4
• Short rib-polydactyly syndrome type II - See Short rib-polydactyly syndrome type 2
• Short rib-polydactyly syndrome type III - See Short rib-polydactyly syndrome type 3
• Short rib-polydactyly syndrome type IV - See Short rib-polydactyly syndrome type 4
• Short ribs craniosynostosis polysyndactyly
• Short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect - See Piepkorn Karp Hickok syndrome
• Short stature contractures hypotonia
• Short stature cranial hyperostosis hepatomegaly
• Short stature deafness neutrophil dysfunction
• Short stature dysmorphic face pelvic scapula dysplasia
• Short stature heart defect and craniofacial anomalies - See Rommen Mueller Sybert syndrome
• Short stature lumbar malsegmentation and minor facial anomalies - See Lumbar malsegmentation short stature
• Short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities - See Pfeiffer Mayer syndrome
• Short stature microcephaly heart defect - See D ercole syndrome
• Short stature microcephaly seizures deafness
• Short stature monodactylous ectrodactyly cleft palate
• Short stature prognathism short femoral necks
• Short stature Robin sequence cleft mandible hand anomalies clubfoot
• Short stature syndrome, Brussels type
• Short stature talipes natal teeth
• Short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice - See Pfeiffer Palm Teller syndrome
• Short stature valvular heart disease
• Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes - See Floating-Harbor syndrome
• Short stature with optic atrophy and Pelger-Huët anomaly syndrome
• Short stature wormian bones dextrocardia
• Short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation - 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, cranial hyperostosis, hepatomegaly and diabetes
• Short stature, facial dysmorphism, severe brachydactyly and syndactyly - See Dauwerse-Peters syndrome
• Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay - See SHORT syndrome
• Short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease- See Al Gazali Aziz Salem syndrome
• Short stature, mental retardation and multiple dysmorphisms - See Pfeiffer Kapferer syndrome
• Short stature, pituitary and cerebellar defects and small sella turcica - See Pituitary hormone deficiency, combined 4
• Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot - See Richieri Costa Pereira syndrome
• Short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes - See 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 - See Achondroplasia and severe combined immunodeficiency
• Shoulder and girdle defects-familial intellectual disability syndrome - See Shoulder girdle defect mental retardation familial
• Shoulder and thorax deformity congenital heart disease
• 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 Salla 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 acquired
• Sideroblastic anemia and mitochondrial myopathy
• Sideroblastic anemia pyridoxine-refractory autosomal recessive
• Sideroblastic anemia pyridoxine-responsive autosomal recessive
• Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (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
• Silvery hair syndrome
• Simian B virus infection
• Simmond's disease - See Sheehan syndrome
• Simosa cranio facial syndrome
• Simosa craniofacial syndrome - See Simosa cranio facial syndrome
• Simple kaolinosis - See Kaolin pneumoconiosis
• Simpson dysmorphia syndrome - See Simpson-Golabi-Behmel syndrome
• Simpson-Golabi-Behmel syndrome
• 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 orofacial anomalies
• Skeletal dysplasia related to campomelic dysplasia - See Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
• Skeletal dysplasia with amelogenesis imperfecta and platyspondyly - See Verloes Bourguignon syndrome
• Skeletal dysplasia, Greenberg type - See Greenberg dysplasia
• Skeletal dysplasia, San Diego type
• Skeletal dysplasias - not a rare disease
• Skeletal-extraskeletal angiomatosis
• Skeleto cardiac syndrome with thrombocytopenia
• Skeleton skin brain syndrome - See Severe achondroplasia with developmental delay and acanthosis nigricans
• Skin anthrax - See Cutaneous anthrax
• Skin cancer - 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 Achondroplasia and 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 Spinal muscular atrophy
• SMA - See Proximal 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