- 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
- 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
domingo, 27 de enero de 2019
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Suscribirse a:
Enviar comentarios (Atom)
No hay comentarios:
Publicar un comentario