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

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

• S penetrans - See Tungiasis
• S. maltophilia - See Stenotrophomonas maltophilia infection
• S. maltophilia infection - See Stenotrophomonas maltophilia infection
• Saal Bulas syndrome
• Sabinas brittle hair syndrome - See Trichothiodystrophy
• Sabinas syndrome - See Trichothiodystrophy
• Saccade initiation failure congenital - See Oculomotor apraxia Cogan type
• Saccharopine dehydrogenase deficiency - See Saccharopinuria
• Saccharopinuria
• Sack-Barabas syndrome - See Vascular Ehlers-Danlos syndrome
• Sackey Sakati Aur syndrome
• Sacral agenesis - See Caudal regression sequence
• Sacral agenesis syndrome - See Caudal regression sequence
• Sacral defect with anterior meningocele - See Caudal regression sequence
• Sacral hemangiomas multiple congenital abnormalities
• Sacral meningocele conotruncal heart defects
• Sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck - See Sacral meningocele conotruncal heart defects
• Sacral neural cysts - See Tarlov cysts
• Sacral perineural cysts - See Tarlov cysts
• Sacral plexopathy
• Sacral regression syndrome - See Caudal regression sequence
• Sacral Tarlov cysts - See Tarlov cysts
• Sacrococcygeal Teratoma
• SACS - See Spastic ataxia Charlevoix-Saguenay type
• SADDAN - See Severe achondroplasia with developmental delay and acanthosis nigricans
• SADDAN dysplasia - See Severe achondroplasia with developmental delay and acanthosis nigricans
• SADS - See Sudden Arrhythmia Death Syndrome
• Saethre-Chotzen syndrome
• Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis - See Pfeiffer-type cardiocranial syndrome
• Sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th - See Pfeiffer Tietze Welte syndrome
• Sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus - See Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
• Saguenay Lac Saint Jean syndrome - See MPI-CDG (CDG-Ib)
• Saito Kuba Tsuruta syndrome
• Sakoda complex
• Salamon syndrome - See Woolly hair hypotrichosis everted lower lip and outstanding ears
• Salcedo syndrome
• Saldino-Mainzer syndrome - See Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
• Saldino-Noonan syndrome - See Short rib-polydactyly syndrome type 1
• Salivary gland cancer, adult
• Salivary gland inflammation - See Sialadenitis
• Salivary gland type cancer of the breast
• Salla disease - See Free sialic acid storage disease
• SAMHD1-related Aicardi-Goutieres syndrome - See Aicardi-Goutieres syndrome type 5
• Sammartino Decreccio syndrome
• Samson Gardner syndrome
• Samson Viljoen syndrome
• San Joaquin fever - See Coccidioidomycosis
• San Luis Valley recombinant chromosome 8 syndrome - See Recombinant chromosome 8 syndrome
• San Luis Valley syndrome - See Recombinant chromosome 8 syndrome
• Sanchez Cascos cardioauditory syndrome - See Cardioauditory syndrome of Sanchez Cascos
• Sanderson Fraser syndrome
• Sandhaus Ben-Ami syndrome
• Sandhoff disease
• Sandhoff-Jatzkewitz-Pilz disease - See Sandhoff disease
• Sandifer syndrome
• Sandifer's syndrome - See Sandifer syndrome
• SANDO - See Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• Sandpaper nails - See Twenty-nail dystrophy
• Sandrow syndrome - See Laurin-Sandrow syndrome
• Sanfilippo disease - See Mucopolysaccharidosis type III
• Sanfilippo syndrome - See Mucopolysaccharidosis type III
• Sanfilippo syndrome A - See Mucopolysaccharidosis type IIIA
• Sanfilippo syndrome B - See Mucopolysaccharidosis type IIIB
• Sanfilippo syndrome C - See Mucopolysaccharidosis type IIIC
• Sanfilippo syndrome D - See Mucopolysaccharidosis type IIID
• Sanfilippo syndrome type A - See Mucopolysaccharidosis type IIIA
• Sanfilippo syndrome type C - See Mucopolysaccharidosis type IIIC
• Sanfilippo syndrome type D - See Mucopolysaccharidosis type IIID
• Sanjad-Sakati syndrome - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• Santos Mateus Leal syndrome
• SAPHO syndrome
• Saposin A deficiency - See Krabbe disease atypical due to Saposin A deficiency
• Sarcoid of Boeck - See Sarcoidosis - not a rare disease
• Sarcoidosis - not a rare disease
• Sarcoma botryoides
• Sarcoma family syndrome of Li and Fraumeni - See Li-Fraumeni syndrome
• Sarcoma of the uterus - See Uterine sarcoma
• Sarcoma, Ewing's - See Ewing sarcoma
• Sarcomatous glioblastoma - See Gliosarcoma
• Sarcoplasmic reticulum -Ca2+ATPase deficiency - See Brody myopathy
• Sarcopsylla penetrans - See Tungiasis
• Sarcosine dehydrogenase complex deficiency - See Sarcosinemia
• Sarcosinemia
• Sarcotubular myopathy - See Limb-girdle muscular dystrophy type 2H
• SARD deficiency - See Sarcosinemia
• SARDH deficiency - See Sarcosinemia
• SARS
• SAS - See SATB2-associated syndrome
• SATB2 syndrome - See SATB2-associated syndrome
• SATB2-associated syndrome
• Satoyoshi syndrome
• Saul Wilkes Stevenson syndrome
• SAVI - See STING-associated vasculopathy with onset in infancy
• Say Barber Biesecker Young-Simpson syndrome - See Blepharophimosis intellectual disability syndromes
• Say Barber Hobbs syndrome - See Say syndrome
• Say Barber Miller syndrome
• Say Carpenter syndrome
• Say Meyer syndrome
• Say syndrome
• Say-Field-Coldwell syndrome
• Say-Meyer syndrome - See Say Meyer syndrome
• SBBYS syndrome - See Blepharophimosis intellectual disability syndromes
• SBC - See Secretory breast carcinoma
• SBCAD deficiency - See 2-methylbutyryl-CoA dehydrogenase deficiency
• SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland) - See Li-Fraumeni syndrome
• SBMA - See Kennedy disease
• SBS - See Brooke-Spiegler syndrome
• SC phocomelia syndrome (mild variant of Roberts syndrome) - See Roberts syndrome
• SC5D deficiency - See Lathosterolosis
• SCA - See Spinocerebellar ataxia
• SCA 17 - See Spinocerebellar ataxia 17
• SCA 2 - See Spinocerebellar ataxia 2
• SCA1 - See Spinocerebellar ataxia 1
• SCA10 - See Spinocerebellar ataxia 10
• SCA11 - See Spinocerebellar ataxia 11
• SCA12 - See Spinocerebellar ataxia 12
• SCA13 - See Spinocerebellar ataxia 13
• SCA14 - See Spinocerebellar ataxia 14
• SCA15 - See Spinocerebellar ataxia 15
• SCA16 (formerly) - See Spinocerebellar ataxia 15
• SCA18 - See Spinocerebellar ataxia 18
• SCA19/22 - See Spinocerebellar ataxia 19 and 22
• SCA20 - See Spinocerebellar ataxia 20
• SCA21 - See Spinocerebellar ataxia 21
• SCA23 - See Spinocerebellar ataxia 23
• SCA25 - See Spinocerebellar ataxia 25
• SCA26 - See Spinocerebellar ataxia 26
• SCA27 - See Spinocerebellar ataxia 27
• SCA28 - See Spinocerebellar ataxia 28
• SCA29 - See Spinocerebellar ataxia 29
• SCA3 - See Spinocerebellar ataxia 3
• SCA30 - See Spinocerebellar ataxia 30
• SCA31 - See Spinocerebellar ataxia 31
• SCA34 - See Spinocerebellar ataxia 34
• SCA35 - See Hereditary ataxia
• SCA36 - See Hereditary ataxia
• SCA37 - See Spinocerebellar ataxia 37
• SCA38 - See Hereditary ataxia
• SCA4 - See Spinocerebellar ataxia 4
• SCA40 - See Spinocerebellar ataxia 40
• SCA5 - See Spinocerebellar ataxia 5
• SCA6 - See Spinocerebellar ataxia type 6
• SCA7 - See Spinocerebellar ataxia 7
• SCA8 - See Spinocerebellar ataxia 8
• SCA8 (formerly) - See Infantile onset spinocerebellar ataxia
• SCA9 - See Spinocerebellar ataxia 9
• SCABD - See Spinocerebellar ataxia autosomal recessive 3
• SCAD deficiency - See Short-chain acyl-CoA dehydrogenase deficiency
• SCADH deficiency - See Short-chain acyl-CoA dehydrogenase deficiency
• Scalp defect congenital - See Aplasia cutis congenita
• Scalp defects postaxial polydactyly
• Scalp ear nipple syndrome
• Scalp-ear-nipple syndrome - See Scalp ear nipple syndrome
• SCAN 2 - See Ataxia with Oculomotor Apraxia Type 2
• SCAN1 - See Spinocerebellar ataxia autosomal recessive with axonal neuropathy
• SCAN2 - See Ataxia with Oculomotor Apraxia Type 2
• Scapuloperoneal muscular dystrophy - See MYH7-related scapuloperoneal myopathy
• Scapuloperoneal myopathy, FHL1-related - See X-linked dominant scapuloperoneal myopathy
• Scapuloperoneal myopathy, MYH7-related - See MYH7-related scapuloperoneal myopathy
• Scapuloperoneal myopathy, X-linked dominant - See X-linked dominant scapuloperoneal myopathy
• Scapuloperoneal spinal muscular atrophy - See Amyotrophy, neurogenic scapuloperoneal, New England type
• Scapuloperoneal syndrome, myopathic type - See MYH7-related scapuloperoneal myopathy
• Scapuloperoneal syndrome, neurogenic type, of Kaeser - See Scapuloperoneal syndrome, neurogenic, Kaeser type
• Scapuloperoneal syndrome, neurogenic, Kaeser type
• Scapuloperoneal syndrome, X-linked (formerly) - See Emery-Dreifuss muscular dystrophy
• SCAR1 - See Ataxia with Oculomotor Apraxia Type 2
• SCAR2 - See Cerebelloparenchymal disorder 3
• SCAR3 - See Spinocerebellar ataxia autosomal recessive 3
• SCAR4 - See Spinocerebellar ataxia autosomal recessive 4
• SCAR5 - See Spinocerebellar ataxia autosomal recessive 5
• SCAR6 - See Spinocerebellar ataxia autosomal recessive 6
• SCAR7 - See Spinocerebellar ataxia autosomal recessive 7
• SCAR8 - See Spinocerebellar ataxia autosomal recessive 8
• SCAR9 - See Autosomal recessive spinocerebellar ataxia 9
• SCARF syndrome
• SCASI - See Spinocerebellar ataxia autosomal recessive 4
• SCAX2 - See Spinocerebellar ataxia X-linked type 2
• SCAX3 - See Spinocerebellar ataxia X-linked type 3
• SCAX4 - See Spinocerebellar ataxia X-linked type 4
• SCCB - See Small cell carcinoma of the bladder
• SCCD - See Corneal dystrophy crystalline of Schnyder
• SCCMS - See Slow-channel congenital myasthenic syndrome
• SCD - See Subacute cerebellar degeneration
• SCDO - See Spondylocostal dysostosis
• SCDO1 - See Spondylocostal dysostosis
• SCDO2 - See Spondylocostal dysostosis
• SCDO4 - See Spondylocostal dysostosis
• SCDO5 - See Spondylocostal dysostosis
• SCDO6 - See Spondylocostal dysostosis
• SCDS - See Superior semicircular canal dehiscence syndrome
• SCFE - See Slipped capital femoral epiphysis - not a rare disease
• Schaaf-Yang syndrome
• Schaap Taylor Baraitser syndrome
• Schaefer Stein Oshman syndrome
• Schamberg disease - See Pigmented purpuric dermatosis
• Schamberg purpura - See Pigmented purpuric dermatosis
• Schaumann's disease - See Sarcoidosis - not a rare disease
• Scheie syndrome
• Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V) - See Mucopolysaccharidosis type I
• Schereshevkii Turner Syndrome - See Turner syndrome
• Scheuermann disease
• Scheuermann kyphosis - See Scheuermann disease
• Schilbach-Rott syndrome - See Hypotelorism cleft palate hypospadias
• Schimke immunoosseous dysplasia
• Schimke immuno-osseous dysplasia - See Schimke immunoosseous dysplasia
• Schimke syndrome - See Schimke immunoosseous dysplasia
• Schimmelpenning Feuerstein Mims syndrome - See Linear nevus sebaceous syndrome
• Schindler disease type 1
• Schindler disease type 2 - See Kanzaki disease
• Schindler disease type 3 - See N-acetyl-alpha-D-galactosaminidase deficiency type III
• Schindler disease type I - See Schindler disease type 1
• Schinzel acrocallosal syndrome - See Acrocallosal syndrome, Schinzel type
• Schinzel Giedion midface-retraction syndrome - See Schinzel Giedion syndrome
• Schinzel Giedion syndrome
• Schinzel phocomelia syndrome - See Al-Awadi-Raas-Rothschild syndrome
• Schinzel syndrome - See Ulnar-mammary syndrome
• Schinzel syndrome 1 - See Acrocallosal syndrome, Schinzel type
• Schinzel-Giedion syndrome - See Schinzel Giedion syndrome
• Schisis association
• Schistosoma mansoni infection - See Schistosomiasis
• Schistosomiasis
• Schizencephaly
• Schlegelberger Grote syndrome
• Schmid metaphyseal dysostosis - See Spondylometaphyseal dysplasia Algerian type
• Schmid-Fraccaro syndrome - See Cat eye syndrome
• Schmidt syndrome - See Autoimmune polyglandular syndrome type 2
• Schmidt's syndrome - See Autoimmune polyglandular syndrome type 2
• Schneckenbecken dysplasia
• Schnitzler syndrome
• Schnyder corneal dystrophy - See Corneal dystrophy crystalline of Schnyder
• Schnyder crystalline corneal dystrophy - See Corneal dystrophy crystalline of Schnyder
• Schofer Beetz Bohl syndrome - See Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
• Scholte syndrome
• Schrander-Stumpel Theunissen Hulsmans syndrome
• Schulman-Upshaw syndrome - See Congenital thrombotic thrombocytopenic purpura
• Schut-Haymaker type OPCA - See Spinocerebellar ataxia 1
• Schuurs-Hoeijmakers syndrome - See PACS1-related syndrome
• Schwannoma
• Schwannomatosis
• Schwartz Bartter syndrome - See Syndrome of inappropriate antidiuretic hormone - not a rare disease
• Schwartz Cohen-Addad Lambert syndrome
• Schwartz Jampel Aberfeld syndrome - See Schwartz Jampel syndrome
• Schwartz Jampel syndrome
• Schwartz-Jampel syndrome - See Schwartz Jampel syndrome
• Schwartz-Jampel syndrome neonatal - See Stuve-Wiedemann syndrome
• Schwartz-Jampel syndrome type 2 - See Stuve-Wiedemann syndrome
• Schwartz-Jampel-Aberfeld syndrome - See Schwartz Jampel syndrome
• Schweitzer Kemink Graham syndrome - See Thickened earlobes with conductive deafness from incus-stapes abnormalities
• SCID - See Severe combined immunodeficiency
• SCID due to ADA deficiency - See Adenosine deaminase deficiency
• SCID due to complete RAG1/2 deficiency - See Severe combined immunodeficiency due to complete RAG1/2 deficiency
• SCID, AR, T-cell negative, B-cell negative, NK cell-positive - See Severe combined immunodeficiency due to complete RAG1/2 deficiency
• SCID, atypical - See Severe combined immunodeficiency, atypical
• SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation - See Severe combined immunodeficiency with sensitivity to ionizing radiation
• SCID, HLA Class 2-Negative - See Bare lymphocyte syndrome 2
• SCID, X-linked - See X-linked severe combined immunodeficiency
• SCIDX - See X-linked severe combined immunodeficiency
• SCIDX1 - See X-linked severe combined immunodeficiency
• Scimitar anomaly - See Pulmonary venous return anomaly
• Scimitar syndrome - See Pulmonary venous return anomaly
• SCKL - See Seckel syndrome
• Scleredema
• Scleredema adultorum - See Scleredema
• Scleredema adultorum of Buschke - See Scleredema
• Scleredema diabeticorum - See Scleredema
• Scleredema diabeticorum of Buschke - See Scleredema
• Scleritis
• Scleroatonic muscular dystrophy - See Ullrich congenital muscular dystrophy
• Scleroatrophic and keratotic dermatosis of limbs - See Palmoplantar keratoderma-sclerodactyly syndrome
• Scleroderma - not a rare disease
• SCLERODERMA, FAMILIAL PROGRESSIVE - See CREST syndrome
• Scleroderma, linear - See Linear scleroderma
• Scleroderma, localized - See Localized scleroderma
• Scleroderma, sine - See Limited systemic sclerosis
• Scleroderma, systemic - See Systemic scleroderma
• Scleromyxedema
• Sclerosing cholangitis - See Primary sclerosing cholangitis
• Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure - See Osteosclerosis with ichthyosis and premature ovarian failure
• Sclerosing lymphocytic lobulitis - See Diabetic mastopathy
• Sclerosing mediastinitis - See Fibrosing mediastinitis
• Sclerosing mesenteritis
• Sclerosing mucoepidermoid carcinoma with eosinophilia
• Sclerosing panniculitis - See Lipodermatosclerosis
• Sclerosteosis
• Sclerotic bones with dentin dysplasia - See Dentin dysplasia sclerotic bones
• Sclerotylosis - See Palmoplantar keratoderma-sclerodactyly syndrome
• SCLS - See Systemic capillary leak syndrome
• SCM type 1 - See Split spinal cord malformation
• SCN1A-related seizure disorders
• SCN2A disorders - See SCN2A related disorders
• SCN2A mutation - See SCN2A related disorders
• SCN2a mutations - See SCN2A related disorders
• SCN2A related conditions - See SCN2A related disorders
• SCN2A related disorders
• SCN2A-related disorders - See SCN2A related disorders
• SCN2A-related epilepsy - See SCN2A related disorders
• SCN3 - See Severe congenital neutropenia autosomal recessive 3
• SCN8A encephalopathy
• SCN8A epilepsy - See SCN8A encephalopathy
• SCOD3 - See Spondylocostal dysostosis
• Scoliosis, congenital with unilateral unsegmented bar - See Spondylocarpotarsal synostosis syndrome
• Scorbutus - See Scurvy
• SCOT deficiency
• Scott Aarskog syndrome - See Aarskog syndrome
• Scott Bryant Graham syndrome
• Scott craniodigital syndrome - See Scott Bryant Graham syndrome
• Scott craniodigital syndrome with mental retardation - See Scott Bryant Graham syndrome
• Scott syndrome
• Scott-Bryant-Graham syndrome - See Scott Bryant Graham syndrome
• Scott-Taor syndrome - See Small patella syndrome
• SCS - See Saethre-Chotzen syndrome
• SCT - See Spondylocarpotarsal synostosis syndrome
• Scurvy
• SD/THE - See Trichohepatoenteric syndrome
• SD1 - See Syndactyly type 1
• SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 2) - See Paragangliomas 2
• SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome - See Paragangliomas 4
• SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 3) - See Paragangliomas 3
• SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 1) - See Paragangliomas 1
• SDHx-related paraganglioma-pheochromocytoma - See Hereditary paraganglioma-pheochromocytoma
• SDS - See Shwachman-Diamond syndrome
• SDSEM - See Spinocerebellar ataxia 2
• SDTY1 - See Syndactyly type 1
• SDTY3 - See Syndactyly type 3
• SE - See Status epilepticus
• Sea-Blue histiocyte disease - See Sea-Blue histiocytosis
• Sea-Blue histiocytosis
• Seaver Cassidy syndrome
• Sebaceous gland hyperplasia, familial presenile
• Sebaceous nevus syndrome linear - See Linear nevus sebaceous syndrome
• Sebastian platelet syndrome - See MYH9 related thrombocytopenia
• Sebastian syndrome - See MYH9 related thrombocytopenia
• Sebocystomatosis - See Steatocystoma multiplex
• Seborrheic keratosis - not a rare disease
• SEC23B-CDG - See Congenital dyserythropoietic anemia type 2
• Secernentea Infections
• Seckel like syndrome Majoor-Krakauer type
• Seckel syndrome
• Seckel-type dwarfism - See Seckel syndrome
• Second metatarsal osteochondrosis - See Freiberg's disease
• Secondary acquired cholesteatoma (type) - See Cholesteatoma
• Secondary adrenal insufficiency
• Secondary aplastic anemia - See Aplastic anemia
• Secondary hypothyroidism - See Central congenital hypothyroidism
• Secondary Non-tropical Sprue - See Whipple disease
• Secondary retention of permanent molars - See Ankylosis of teeth
• Secretory breast carcinoma
• Secretory carcinoma of the breast - See Secretory breast carcinoma
• SED - See Spondyloepiphyseal dysplasia tarda X-linked
• SED congenita - See Spondyloepiphyseal dysplasia congenita
• SED, Maroteaux type - See Spondyloepiphyseal dysplasia Maroteaux type
• SED-BDS - See Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
• SEDC - See Spondyloepiphyseal dysplasia congenita
• Sedlackova syndrome - See 22q11.2 deletion syndrome
• SEDT-PA - See Progressive pseudorheumatoid dysplasia
• Seemanova Lesny syndrome - See Microcephaly microcornea syndrome Seemanova type
• Seemanova syndrome 2 - See Nijmegen breakage syndrome
• SEGA - See Subependymal giant cell astrocytoma
• Segawa syndrome, autosomal recessive - See Tyrosine hydroxylase deficiency
• Seghers syndrome - See Imperforate oropharynx-costo vetebral anomalies
• Segmental cranial dystonia - See Meige syndrome
• Segmental glomerulosclerosis - See Focal segmental glomerulosclerosis
• Segmental hyalinizing vasculopathy - See Livedoid vasculopathy
• Segmental vertebral anomalies - See Tethered cord syndrome
• Segmentation syndrome 1
• Seitelberger disease - See Infantile neuroaxonal dystrophy
• Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance - See SeSAME syndrome
• Seizures, benign familial infantile, 1 - See Convulsions, benign familial infantile, 1
• Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance - See SeSAME syndrome
• Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome - See SeSAME syndrome
• Selective antibody deficiency with normal immunoglobulins - See Specific antibody deficiency
• Selective cobalamin malabsorption with proteinuria - See Imerslund-Grasbeck syndrome
• Selective IgA deficiency - not a rare disease
• Selective IgM deficiency
• Selective immunoglobulin M deficiency - See Selective IgM deficiency
• Selective mutism - See Elective mutism
• Selective sound sensitivity syndrome - See Misophonia
• Selenium poisoning
• Selig Benacerraf Greene syndrome
• SEM - See Spondyloenchondrodysplasia
• Semantic dementia
• Semantic primary progressive aphasia - See Semantic dementia
• Semantic variant PPA - See Semantic dementia
• SEMD Genevieve type - See Spondyloepimetaphyseal dysplasia Genevieve type
• SEMD MATN3-related - See Spondyloepimetaphyseal dysplasia Matrilin-3 related
• SEMD Missouri type - See Spondyloepimetaphyseal dysplasia Missouri type
• SEMD Shohat type - See Spondyloepimetaphyseal dysplasia Shohat type
• SEMD X-linked - See Spondyloepimetaphyseal dysplasia X-linked
• SEMD X-linked with mental deterioration - See Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
• SEMD, Aggrecan type - See Spondyloepimetaphyseal dysplasia, Aggrecan type
• SEMD, Missouri type - See Spondyloepimetaphyseal dysplasia Missouri type
• SEMDJL - See Spondyloepimetaphyseal dysplasia joint laxity
• SEMDX - See Spondyloepimetaphyseal dysplasia X-linked
• Semilobar holoprosencephaly and primary craniosynostosis - See Genoa syndrome
• Seminoma of testis - See Testicular seminoma
• Seminomatous germ cell tumor of testis - See Testicular seminoma
• Sen Syndrome - See Scalp ear nipple syndrome
• SENDA - See Beta-Propeller Protein-Associated Neurodegeneration
• Sener syndrome
• Sengers syndrome
• Senile Dermatitis Herpetiformis - See Bullous pemphigoid
• Senior Loken Syndrome
• Senior-Loken Syndrome - See Senior Loken Syndrome
• Sennetsu Fever
• Sensenbrenner syndrome - See Cranioectodermal dysplasia
• Sensitization to 2-hydroxyethyl methacrylate - See 2-hydroxyethyl methacrylate sensitization
• Sensorimotor neuropathy with ataxia autosomal dominant - See Spinocerebellar ataxia 18
• Sensorineural deafness and male infertility - See Deafness-infertility syndrome
• Sensorineural deafness with imperforate anus and hypoplastic thumbs - See Townes-Brocks syndrome
• Sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5 - See Pfeiffer Kapferer syndrome
• Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear - See Deafness, X-linked 2
• Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities - See Deafness enamel hypoplasia nail defects
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• Senter syndrome - See KID syndrome
• Seow Najjar syndrome
• Sepiapterin reductase deficiency
• SEPN1-related myopathy
• Septic arthritis - See Infectious arthritis
• Septic phlebitis of the internal jugular vein - See Lemierre syndrome
• Septooptic dysplasia - See Septo-optic dysplasia spectrum
• Septo-optic dysplasia - See Septo-optic dysplasia spectrum
• Septo-optic dysplasia spectrum
• Septo-optic dysplasia with digital anomalies - See Pagon Stephan syndrome
• Septo-optic dysplasia with growth hormone deficiency - See Septo-optic dysplasia spectrum
• SERAC1 defect - See MEGDEL syndrome
• Seres-Santamaria Arimany Muniz syndrome
• Serine pyruvate aminotransferase deficiency - See Primary hyperoxaluria type 1
• SERKAL syndrome
• Serpentine fibula-polycystic kidneys syndrome - See Acroosteolysis dominant type
• Serpiginous choroiditis
• Serpiginous choroidopathy - See Serpiginous choroiditis
• SERPINFI- related osteogenesis imperfecta - See Osteogenesis imperfecta type VI
• Sertoli cell-only syndrome
• Sertoli-leydig cell tumor of the ovary - See Sertoli-leydig cell tumors
• Sertoli-leydig cell tumors
• SeSAME syndrome
• SETBP1 disorder
• SETBP1 related developmental delay - See SETBP1 disorder
• SETBP1-related disorder - See SETBP1 disorder
• SETBP1-related intellectual disability - See SETBP1 disorder
• Setleis syndrome - See Facial ectodermal dysplasia
• Seven year itch - See Crusted scabies
• Severe ABCB11 deficiency - See Progressive familial intrahepatic cholestasis type 2
• Severe achondroplasia with developmental delay and acanthosis nigricans
• Severe achondroplasia with developmental delay and acanthosis nigricans - See Severe achondroplasia with developmental delay and acanthosis nigricans
• Severe achondroplasia-developmental delay-acanthosis nigricans syndrome - See Severe achondroplasia with developmental delay and acanthosis nigricans
• Severe acute respiratory syndrome - See SARS
• Severe ATP8B1 deficiency - See Progressive familial intrahepatic cholestasis 1
• Severe childhood autosomal recessive muscular dystrophy, North African type - See Limb-girdle muscular dystrophy, type 2C
• Severe combined immunodeficiency
• Severe combined immunodeficiency due to ADA deficiency - See Adenosine deaminase deficiency
• Severe combined immunodeficiency due to adenosine deaminase deficiency - See Adenosine deaminase deficiency
• Severe combined immunodeficiency due to complete RAG1/2 deficiency
• Severe combined immunodeficiency due to ZAP70 deficiency - See ZAP-70 deficiency
• Severe combined immunodeficiency T- B+ due to gamma chain deficiency - See X-linked severe combined immunodeficiency
• Severe combined immunodeficiency T- B+, X-linked - See X-linked severe combined immunodeficiency
• Severe combined immunodeficiency with hypereosinophilia - See Omenn syndrome
• Severe combined immunodeficiency with leukopenia - See Reticular dysgenesis
• Severe combined immunodeficiency with sensitivity to ionizing radiation
• Severe combined immunodeficiency, atypical
• Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency - See Adenosine deaminase deficiency
• Severe combined immunodeficiency, HLA class ii-negative - See Bare lymphocyte syndrome 2
• Severe combined immunodeficiency, X-linked - See X-linked severe combined immunodeficiency
• Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative - See X-linked severe combined immunodeficiency
• Severe congenital (neonatal) NM - See Severe congenital nemaline myopathy
• Severe congenital nemaline myopathy - See Severe congenital nemaline myopathy
• Severe congenital nemaline myopathy
• Severe congenital neutropenia
• Severe congenital neutropenia autosomal dominant
• Severe congenital neutropenia autosomal recessive 3
• Severe congenital neutropenia X-linked
• Severe dental aberrations in familial steroid dehydrogenase deficiency - See Steroid dehydrogenase deficiency dental anomalies
• Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome - See Bainbridge-Ropers syndrome
• Severe generalized RDEB - See Severe generalized recessive dystrophic epidermolysis bullosa
• Severe generalized recessive dystrophic epidermolysis bullosa
• Severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin - See Grubben de Cock Borghgraef syndrome
• Severe hereditary thrombophilia due to congenital protein C deficiency - See Protein C deficiency - not a rare disease
• Severe hereditary thrombophilia due to congenital protein C deficiency - See Autosomal recessive protein C deficiency
• Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive - See Severe combined immunodeficiency due to complete RAG1/2 deficiency
• Severe infantile axonal neuropathy
• Severe infantile axonal neuropathy with respiratory failure - See Spinal muscular atrophy with respiratory distress 1
• Severe intellectual disability and progressive spastic paraplegia - See Spastic paraplegia 51
• Severe intellectual disability and progressive spastic paraplegia - See AP-4-Associated Hereditary Spastic Paraplegia
• 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 - See Kaufman oculocerebrofacial syndrome
• Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome - See Intellectual disability - athetosis - microphthalmia
• Severe microcephaly and self-limiting dilated cardiomyopathy - See Microcephaly-cardiomyopathy
• Severe microcephaly with mental retardation and dilated cardiomyopathy - See Microcephaly-cardiomyopathy
• Severe MPS I (subtype, also known as Hurler syndrome) - See Mucopolysaccharidosis type I
• Severe MPS II - See Mucopolysaccharidosis type II
• Severe muscle pain and abnormally high eosinophils - See Eosinophilia-myalgia syndrome
• Severe Myoclonic Epilepsy of Infancy - See Dravet syndrome
• Severe or complete loss of motor function in the lower extremities and lower portions of the trunk - See Paraplegia
• Severe osteogenesis imperfecta - See Osteogenesis imperfecta type III
• Severe refractory status epilepticus owing to presumed encephalitis - See Febrile infection-related epilepsy syndrome
• Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism - See Devriendt syndrome
• Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome - See T-cell immunodeficiency, congenital alopecia and nail dystrophy
• Severe thrombocytopenia and selective, marked decrease or absence of megakaryocytes - See Acquired amegakaryocytic thrombocytopenia
• Severe ulnar aplasia and lobster claw feet - See Ulnar hypoplasia lobster claw deformity of feet
• Severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities - See Brachymesomelia renal syndrome
• Severe upper limb hypoplasia and Mullerian duct anomalies - See Hypomelia mullerian duct anomalies
• Severe X-linked intellectual disability, Gustavson type
• Sex reversion-kidneys, adrenal and lung dysgenesis syndrome - See SERKAL syndrome
• Sex-linked mental retardation, short stature, obesity and hypogonadism - See X-linked intellectual disability - short stature – obesity
• Sexual ateleiotic dwarfism - See Isolated growth hormone deficiency type 1A
• Sexual precocity - See Precocious puberty
• Sexual precocity, familial, gonadotropin-independent - See Testotoxicosis
• Sezary syndrome
• Sézary syndrome - See Sezary syndrome
• Sezary's lymphoma - See Sezary syndrome
• SFD - See Fundus dystrophy, pseudoinflammatory, of Sorsby
• SFM syndrome - See Linear nevus sebaceous syndrome
• SFMS - See Mental retardation Smith Fineman Myers type
• SGBS - See Simpson-Golabi-Behmel syndrome
• SGBS1 - See Simpson-Golabi-Behmel syndrome
• SGFLD syndrome - See Splenogonadal fusion limb defects micrognatia
• SGM1 - See Segmentation syndrome 1
• SGS - See Schinzel Giedion syndrome
• SH2D1A-Related Lymphoproliferative Disease, X-Linked - See X-linked lymphoproliferative syndrome 1
• Shah-Waardenburg syndrome - See Waardenburg syndrome type 4
• Shaking palsy - See Parkinson disease - not a rare disease
• Shaky leg syndrome - See Primary orthostatic tremor
• Shapiro syndrome
• Shapiro's syndrome - See Shapiro syndrome
• Sharp syndrome - See Mixed connective tissue disease
• Shashi X-linked mental retardation syndrome - See Mental retardation X-linked syndromic 11
• Shashi-Pena syndrome
• Shavers disease - See Aluminosis
• Shavers' disease - See Aluminosis
• Sheehan syndrome
• Sheldon-Hall syndrome
• SHFD1 - See Split hand foot malformation 1
• SHFD2 - See Split hand/foot malformation X-linked
• SHFLD - See Cleft hand absent tibia
• SHFM - See Split hand foot malformation
• SHFM1 - See Split hand foot malformation 1
• SHFM2 - See Split hand/foot malformation X-linked
• Shigellosis
• SHML - See Rosai-Dorfman disease
• SHMS - See PACS1-related syndrome
• Shock lung - See Acute respiratory distress syndrome
• Shokeir syndrome - See Alopecia, epilepsy, pyorrhea, mental subnormality
• Short bowel syndrome
• Short branched-chain acyl-CoA dehydrogenase deficiency - See 2-methylbutyryl-CoA dehydrogenase deficiency
• Short foot/brachydactyly of toes, camptodactyly , brachydactyly - See Camptobrachydactyly
• Short limb dwarf lethal Colavita Kozlowski type
• Short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation - See Spondyloepimetaphyseal dysplasia Sponastrime type
• Short limb skeletal dysplasia with SCID - See Short-limb skeletal dysplasia with severe combined immunodeficiency
• Short limbed dwarfism with extensive stippling - See Astley-Kendall syndrome
• Short rib polydactyly syndrome Beemer-Langer type - See Short rib-polydactyly syndrome type 4
• Short rib polydactyly syndrome Verma Naumoff type - See Short rib-polydactyly syndrome type 3
• Short rib-polydactyly syndrome type 3
• Short rib-polydactyly syndrome Beemer type - See Short rib-polydactyly syndrome type 4
• Short rib-polydactyly syndrome Majewski type - See Short rib-polydactyly syndrome, Majewski type
• Short rib-polydactyly syndrome Saldino-Noonan type - See Short rib-polydactyly syndrome type 1
• Short rib-polydactyly syndrome type 1
• Short rib-polydactyly syndrome type 2 - See Short rib-polydactyly syndrome, Majewski type
• Short rib-polydactyly syndrome type 4
• Short rib-polydactyly syndrome type II - See Short rib-polydactyly syndrome, Majewski type
• Short rib-polydactyly syndrome type III - See Short rib-polydactyly syndrome type 3
• Short rib-polydactyly syndrome type IV - See Short rib-polydactyly syndrome type 4
• Short rib-polydactyly syndrome, Majewski type
• Short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect - See Piepkorn Karp Hickok syndrome
• Short stature deafness neutrophil dysfunction