List of rare diseases-S

NIH genetic and rare disease info

• NIH info on List of rare diseases-S

List of rare diseases-S is a rare disease.

• S penetrans
• S. maltophilia
• S. maltophilia infection
• Saal Bulas syndrome
• Sabinas brittle hair syndrome
• Sabinas syndrome
• Saccade initiation failure congenital
• Saccharopine dehydrogenase deficiency
• Saccharopinuria
• Sack-Barabas syndrome
• Sackey Sakati Aur syndrome
• Sacral agenesis
• Sacral agenesis 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
• Sacral neural cysts
• Sacral perineural cysts
• Sacral plexopathy
• Sacral regression syndrome
• Sacral Tarlov cysts
• Sacrococcygeal Teratoma
• SACS
• SADDAN
• SADDAN dysplasia
• SADS
• Saethre-Chotzen syndrome
• Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis
• Sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th
• Sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus
• Saguenay Lac Saint Jean syndrome
• Saito Kuba Tsuruta syndrome
• Sakoda complex
• Salamon syndrome
• Salcedo syndrome
• Saldino-Mainzer syndrome
• Saldino-Noonan syndrome
• Salivary gland cancer, adult
• Salivary gland inflammation
• Salivary gland type cancer of the breast
• Salla disease
• SAMHD1-related Aicardi-Goutieres syndrome
• Sammartino Decreccio syndrome
• Samson Gardner syndrome
• Samson Viljoen syndrome
• San Joaquin fever
• San Luis Valley recombinant chromosome 8 syndrome
• San Luis Valley syndrome
• Sanchez Cascos cardioauditory syndrome
• Sanderson Fraser syndrome
• Sandhaus Ben-Ami syndrome
• Sandhoff disease
• Sandhoff-Jatzkewitz-Pilz disease
• Sandifer syndrome
• Sandifer's syndrome
• SANDO
• Sandpaper nails
• Sandrow syndrome
• Sanfilippo disease
• Sanfilippo syndrome
• Sanfilippo syndrome A
• Sanfilippo syndrome B
• Sanfilippo syndrome C
• Sanfilippo syndrome D
• Sanfilippo syndrome type A
• Sanfilippo syndrome type C
• Sanfilippo syndrome type D
• Sanjad-Sakati syndrome
• Santos Mateus Leal syndrome
• SAPHO syndrome
• Saposin A deficiency
• Sarcoid of Boeck- not a rare disease.
• Sarcoidosis- not a rare disease.
• Sarcoma botryoides
• Sarcoma family syndrome of Li and Fraumeni
• Sarcoma of the uterus
• Sarcoma, Ewing's
• Sarcomatous glioblastoma
• Sarcoplasmic reticulum -Ca2+ATPase deficiency
• Sarcopsylla penetrans
• Sarcosine dehydrogenase complex deficiency
• Sarcosinemia
• Sarcotubular myopathy
• SARD deficiency
• SARDH deficiency
• SARS
• SAS
• SATB2 syndrome
• SATB2-associated syndrome
• Satoyoshi syndrome
• Saul Wilkes Stevenson syndrome
• SAVI
• Say Barber Biesecker Young-Simpson syndrome
• Say Barber Hobbs syndrome
• Say Barber Miller syndrome
• Say Carpenter syndrome
• Say Meyer syndrome
• Say syndrome
• Say-Field-Coldwell syndrome
• Say-Meyer syndrome
• SBBYS syndrome
• SBC
• SBCAD deficiency
• SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland)
• SBMA
• SBS
• SC phocomelia syndrome (mild variant of Roberts syndrome)
• SC5D deficiency
• SCA
• SCA 17
• SCA 2
• SCA1
• SCA10
• SCA11
• SCA12
• SCA13
• SCA14
• SCA15
• SCA16 (formerly)
• SCA18
• SCA19/22
• SCA20
• SCA21
• SCA23
• SCA25
• SCA26
• SCA27
• SCA28
• SCA29
• SCA3
• SCA30
• SCA31
• SCA34
• SCA35
• SCA36
• SCA37
• SCA38
• SCA4
• SCA40
• SCA5
• SCA6
• SCA7
• SCA8
• SCA8 (formerly)
• SCA9
• SCABD
• SCAD deficiency
• SCADH deficiency
• Scalp defect congenital
• Scalp defects postaxial polydactyly
• Scalp ear nipple syndrome
• Scalp-ear-nipple syndrome
• SCAN 2
• SCAN1
• SCAN2
• Scapuloperoneal muscular dystrophy
• Scapuloperoneal myopathy, FHL1-related
• Scapuloperoneal myopathy, MYH7-related
• Scapuloperoneal myopathy, X-linked dominant
• Scapuloperoneal spinal muscular atrophy
• Scapuloperoneal syndrome, myopathic type
• Scapuloperoneal syndrome, neurogenic type, of Kaeser
• Scapuloperoneal syndrome, neurogenic, Kaeser type
• Scapuloperoneal syndrome, X-linked (formerly)
• SCAR1
• SCAR2
• SCAR3
• SCAR4
• SCAR5
• SCAR6
• SCAR7
• SCAR8
• SCAR9
• SCARF syndrome
• SCASI
• SCAX2
• SCAX3
• SCAX4
• SCCB
• SCCD
• SCCMS
• SCD
• SCDO
• SCDO1
• SCDO2
• SCDO4
• SCDO5
• SCDO6
• SCDS
• SCFE- not a rare disease.
• Schaaf-Yang syndrome
• Schaap Taylor Baraitser syndrome
• Schaefer Stein Oshman syndrome
• Schamberg disease
• Schamberg purpura
• Schaumann's disease- not a rare disease.
• Scheie syndrome
• Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)
• Schereshevkii Turner Syndrome
• Scheuermann disease
• Scheuermann kyphosis
• Schilbach-Rott syndrome
• Schimke immunoosseous dysplasia
• Schimke immuno-osseous dysplasia
• Schimke syndrome
• Schimmelpenning Feuerstein Mims syndrome
• Schindler disease type 1
• Schindler disease type 2
• Schindler disease type 3
• Schindler disease type I
• Schinzel acrocallosal syndrome
• Schinzel Giedion midface-retraction syndrome
• Schinzel Giedion syndrome
• Schinzel phocomelia syndrome
• Schinzel syndrome
• Schinzel syndrome 1
• Schinzel-Giedion syndrome
• Schisis association
• Schistosoma mansoni infection
• Schistosomiasis
• Schizencephaly
• Schlegelberger Grote syndrome
• Schmid metaphyseal dysostosis
• Schmid-Fraccaro syndrome
• Schmidt syndrome
• Schmidt's syndrome
• Schneckenbecken dysplasia
• Schnitzler syndrome
• Schnyder corneal dystrophy
• Schnyder crystalline corneal dystrophy
• Schofer Beetz Bohl syndrome
• Scholte syndrome
• Schrander-Stumpel Theunissen Hulsmans syndrome
• Schulman-Upshaw syndrome
• Schut-Haymaker type OPCA
• Schuurs-Hoeijmakers syndrome
• Schwannoma
• Schwannomatosis
• Schwartz Bartter syndrome- not a rare disease.
• Schwartz Cohen-Addad Lambert syndrome
• Schwartz Jampel Aberfeld syndrome
• Schwartz Jampel syndrome
• Schwartz-Jampel syndrome
• Schwartz-Jampel syndrome neonatal
• Schwartz-Jampel syndrome type 2
• Schwartz-Jampel-Aberfeld syndrome
• Schweitzer Kemink Graham syndrome
• SCID
• SCID due to ADA deficiency
• SCID due to complete RAG1/2 deficiency
• SCID, AR, T-cell negative, B-cell negative, NK cell-positive
• SCID, atypical
• SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation
• SCID, HLA Class 2-Negative
• SCID, X-linked
• SCIDX
• SCIDX1
• Scimitar anomaly
• Scimitar syndrome
• SCKL
• Scleredema
• Scleredema adultorum
• Scleredema adultorum of Buschke
• Scleredema diabeticorum
• Scleredema diabeticorum of Buschke
• Scleritis
• Scleroatonic muscular dystrophy
• Scleroatrophic and keratotic dermatosis of limbs
• Scleroderma- not a rare disease.
• SCLERODERMA, FAMILIAL PROGRESSIVE
• Scleroderma, linear
• Scleroderma, localized
• Scleroderma, sine
• Scleroderma, systemic
• Scleromyxedema
• Sclerosing cholangitis
• Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure
• Sclerosing lymphocytic lobulitis
• Sclerosing mediastinitis
• Sclerosing mesenteritis
• Sclerosing mucoepidermoid carcinoma with eosinophilia
• Sclerosing panniculitis
• Sclerosteosis
• Sclerotic bones with dentin dysplasia
• Sclerotylosis
• SCLS
• SCM type 1
• SCN1A-related seizure disorders
• SCN2A disorders
• SCN2A mutation
• SCN2a mutations
• SCN2A related conditions
• SCN2A related disorders
• SCN2A-related disorders
• SCN2A-related epilepsy
• SCN3
• SCN8A encephalopathy
• SCN8A epilepsy
• SCOD3
• Scoliosis, congenital with unilateral unsegmented bar
• Scorbutus
• SCOT deficiency
• Scott Aarskog syndrome
• Scott Bryant Graham syndrome
• Scott craniodigital syndrome
• Scott craniodigital syndrome with mental retardation
• Scott syndrome
• Scott-Bryant-Graham syndrome
• Scott-Taor syndrome
• SCS
• SCT
• Scurvy
• SD/THE
• SD1
• SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 2)
• SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
• SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 3)
• SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 1)
• SDHx-related paraganglioma-pheochromocytoma
• SDS
• SDSEM
• SDTY1
• SDTY3
• SE
• Sea-Blue histiocyte disease
• Sea-Blue histiocytosis
• Seaver Cassidy syndrome
• Sebaceous gland hyperplasia, familial presenile
• Sebaceous nevus syndrome linear
• Sebastian platelet syndrome
• Sebastian syndrome
• Sebocystomatosis
• Seborrheic keratosis- not a rare disease.
• SEC23B-CDG
• Secernentea Infections
• Seckel like syndrome Majoor-Krakauer type
• Seckel syndrome
• Seckel-type dwarfism
• Second metatarsal osteochondrosis
• Secondary acquired cholesteatoma (type)
• Secondary adrenal insufficiency
• Secondary aplastic anemia
• Secondary hypothyroidism
• Secondary Non-tropical Sprue
• Secondary retention of permanent molars
• Secretory breast carcinoma
• Secretory carcinoma of the breast
• SED
• SED congenita
• SED, Maroteaux type
• SED-BDS
• SEDC
• Sedlackova syndrome
• SEDT-PA
• Seemanova Lesny syndrome
• Seemanova syndrome 2
• SEGA
• Segawa syndrome, autosomal recessive
• Seghers syndrome
• Segmental cranial dystonia
• Segmental glomerulosclerosis
• Segmental hyalinizing vasculopathy
• Segmental vertebral anomalies
• Segmentation syndrome 1
• Seitelberger disease
• Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance
• Seizures, benign familial infantile, 1
• Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
• Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
• Selective antibody deficiency with normal immunoglobulins
• Selective cobalamin malabsorption with proteinuria
• Selective IgA deficiency- not a rare disease.
• Selective IgM deficiency
• Selective immunoglobulin M deficiency
• Selective mutism
• Selective sound sensitivity syndrome
• Selenium poisoning
• Selig Benacerraf Greene syndrome
• SEM
• Semantic dementia
• Semantic primary progressive aphasia
• Semantic variant PPA
• SEMD Genevieve type
• SEMD MATN3-related
• SEMD Missouri type
• SEMD Shohat type
• SEMD X-linked
• SEMD X-linked with mental deterioration
• SEMD, Aggrecan type
• SEMD, Missouri type
• SEMDJL
• SEMDX
• Semilobar holoprosencephaly and primary craniosynostosis
• Seminoma of testis
• Seminomatous germ cell tumor of testis
• Sen Syndrome
• SENDA
• Sener syndrome
• Sengers syndrome
• Senile Dermatitis Herpetiformis
• Senior Loken Syndrome
• Senior-Loken Syndrome
• Sennetsu Fever
• Sensenbrenner syndrome
• Sensitization to 2-hydroxyethyl methacrylate
• Sensorimotor neuropathy with ataxia autosomal dominant
• Sensorineural deafness and male infertility
• Sensorineural deafness with imperforate anus and hypoplastic thumbs
• Sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5
• Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear
• Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• Senter syndrome
• Seow Najjar syndrome
• Sepiapterin reductase deficiency
• SEPN1-related myopathy
• Septic arthritis
• Septic phlebitis of the internal jugular vein
• Septooptic dysplasia
• Septo-optic dysplasia
• Septo-optic dysplasia spectrum
• Septo-optic dysplasia with digital anomalies
• Septo-optic dysplasia with growth hormone deficiency
• SERAC1 defect
• Seres-Santamaria Arimany Muniz syndrome
• Serine pyruvate aminotransferase deficiency
• SERKAL syndrome
• Serpentine fibula-polycystic kidneys syndrome
• Serpiginous choroiditis
• Serpiginous choroidopathy
• SERPINFI- related osteogenesis imperfecta
• Sertoli cell-only syndrome
• Sertoli-leydig cell tumor of the ovary
• Sertoli-leydig cell tumors
• SeSAME syndrome
• SETBP1 disorder
• SETBP1 related developmental delay
• SETBP1-related disorder
• SETBP1-related intellectual disability
• Setleis syndrome
• Seven year itch
• Severe ABCB11 deficiency
• Severe achondroplasia with developmental delay and acanthosis nigricans
• Severe achondroplasia with developmental delay and acanthosis nigricans
• Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
• Severe acute respiratory syndrome
• Severe ATP8B1 deficiency
• Severe childhood autosomal recessive muscular dystrophy, North African type
• Severe combined immunodeficiency
• Severe combined immunodeficiency due to ADA deficiency
• Severe combined immunodeficiency due to adenosine deaminase deficiency
• Severe combined immunodeficiency due to complete RAG1/2 deficiency
• Severe combined immunodeficiency due to ZAP70 deficiency
• Severe combined immunodeficiency T- B+ due to gamma chain deficiency
• Severe combined immunodeficiency T- B+, X-linked
• Severe combined immunodeficiency with hypereosinophilia
• Severe combined immunodeficiency with leukopenia
• 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
• Severe combined immunodeficiency, HLA class ii-negative
• Severe combined immunodeficiency, X-linked
• Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative
• Severe congenital (neonatal) NM
• 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
• Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
• Severe generalized RDEB
• Severe generalized recessive dystrophic epidermolysis bullosa
• Severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin
• Severe hereditary thrombophilia due to congenital protein C deficiency
• Severe hereditary thrombophilia due to congenital protein C deficiency- not a rare disease.
• Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
• Severe infantile axonal neuropathy
• Severe infantile axonal neuropathy with respiratory failure
• Severe intellectual disability and progressive spastic paraplegia
• Severe intellectual disability and progressive spastic paraplegia
• Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
• Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
• Severe intellectual disability-progressive spastic diplegia syndrome
• Severe 'knock-knees' and variable lesser malalignment at the elbows and wrists
• Severe mental deficiency proportionate dwarfism and delayed sexual maturation
• Severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet
• Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
• Severe microcephaly and self-limiting dilated cardiomyopathy
• Severe microcephaly with mental retardation and dilated cardiomyopathy
• Severe MPS I (subtype, also known as Hurler syndrome)
• Severe MPS II
• Severe muscle pain and abnormally high eosinophils
• Severe Myoclonic Epilepsy of Infancy
• Severe or complete loss of motor function in the lower extremities and lower portions of the trunk
• Severe osteogenesis imperfecta
• Severe refractory status epilepticus owing to presumed encephalitis
• Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism
• Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
• Severe thrombocytopenia and selective, marked decrease or absence of megakaryocytes
• Severe ulnar aplasia and lobster claw feet
• Severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities
• Severe upper limb hypoplasia and Mullerian duct anomalies
• Severe X-linked intellectual disability, Gustavson type
• Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
• Sex-linked mental retardation, short stature, obesity and hypogonadism
• Sexual ateleiotic dwarfism
• Sexual precocity
• Sexual precocity, familial, gonadotropin-independent
• Sezary syndrome
• Sézary syndrome
• Sezary's lymphoma
• SFD
• SFM syndrome
• SFMS
• SGBS
• SGBS1
• SGFLD syndrome
• SGM1
• SGS
• SH2D1A-Related Lymphoproliferative Disease, X-Linked
• Shah-Waardenburg syndrome
• Shaking palsy- not a rare disease.
• Shaky leg syndrome
• Shapiro syndrome
• Shapiro's syndrome
• Sharp syndrome
• Shashi X-linked mental retardation syndrome
• Shashi-Pena syndrome
• Shavers disease
• Shavers' disease
• Sheehan syndrome
• Sheldon-Hall syndrome
• SHFD1
• SHFD2
• SHFLD
• SHFM
• SHFM1
• SHFM2
• Shigellosis
• SHML
• SHMS
• Shock lung
• Shokeir syndrome
• Short bowel syndrome
• Short branched-chain acyl-CoA dehydrogenase deficiency
• Short foot/brachydactyly of toes, camptodactyly , brachydactyly
• Short limb dwarf lethal Colavita Kozlowski type
• Short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation
• Short limb skeletal dysplasia with SCID
• Short limbed dwarfism with extensive stippling
• Short rib polydactyly syndrome Beemer-Langer type
• Short rib polydactyly syndrome Verma Naumoff type
• Short rib-polydactyly syndrome type 3
• Short rib-polydactyly syndrome Beemer type
• Short rib-polydactyly syndrome Majewski type
• Short rib-polydactyly syndrome Saldino-Noonan type
• Short rib-polydactyly syndrome type 1
• Short rib-polydactyly syndrome type 2
• Short rib-polydactyly syndrome type 4
• Short rib-polydactyly syndrome type II
• Short rib-polydactyly syndrome type III
• Short rib-polydactyly syndrome type IV
• Short rib-polydactyly syndrome, Majewski type
• Short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect
• Short stature deafness neutrophil dysfunction
• Short stature heart defect and craniofacial anomalies
• Short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities
• Short stature microcephaly heart defect
• Short stature syndrome, Brussels type
• Short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice
• Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes
• 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
• Short stature, brachydactyly, nail dysplasia and mental retardation
• Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
• Short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges
• Short stature, facial dysmorphism, severe brachydactyly and syndactyly
• Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay
• Short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease
• Short stature, mental retardation and multiple dysmorphisms
• Short stature, pituitary and cerebellar defects and small sella turcica
• Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot
• Short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes
• Short stature, webbed neck, heart disease
• Short stature-craniofacial anomalies-genital hypoplasia syndrome
• Short stature-pituitary and cerebellar defects-small sella turcica syndrome
• SHORT syndrome
• Short tarsus absence of lower eyelashes
• Short umbilical cord syndrome
• Short-chain acyl-CoA dehydrogenase deficiency
• Short-chain acyl-coenzyme A dehydrogenase deficiency
• Short-chain enoyl-CoA hydratase deficiency
• Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms
• Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing
• Short-limb skeletal dysplasia with severe combined immunodeficiency
• Short-rib thoracic dysplasia 6 with or without polydactyly
• Shoulder and girdle defects-familial intellectual disability syndrome
• Shoulder girdle defect mental retardation familial
• Shprintzen omphalocele syndrome
• Shprintzen syndrome
• Shprintzen-Goldberg craniosynostosis syndrome
• Shprintzen-Goldberg marfanoid syndrome
• Shprintzen-Goldberg omphalocele syndrome
• Shprintzen-Goldberg syndrome
• SHSF2
• Shulman syndrome
• Shwachman-Bodian syndrome
• Shwachman-Diamond syndrome
• Shwartzman phenomenon
• Shy-Dragger syndrome (formerly)
• Shy-Magee syndrome
• SI deficiency
• SIADH- not a rare disease.
• Sialadenitis
• Sialadenitis, xanthogranulomatous
• Sialic acid storage disease
• Sialidase deficiency
• Sialidosis type I
• Sialidosis, type II
• Sialoadenitis
• Sialuria
• Sialuria, Finnish type
• Sialuria, French type
• Sialuria, infantile form
• SIANRF
• Siberian Plague
• Sicca syndrome- not a rare disease.
• Sickle beta thalassemia
• Sickle cell - beta-thalassemia disease
• Sickle cell - hemoglobin C disease
• Sickle cell - hemoglobin D disease
• Sickle cell - hemoglobin E disease- not a rare disease.
• Sickle cell anemia
• Sickle cell disease associated with an other hemoglobin anomaly
• Sickle cell-beta-thalassemia disease syndrome
• Sickle cell-hemoglobin C disease syndrome
• Sickle cell-hemoglobin D disease syndrome
• Sickle cell-hemoglobin E disease syndrome- not a rare disease.
• Sickle delta beta thalassemia
• Sickling disorder due to hemoglobin S
• Sickness of disembarkment
• SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome
• SIDDT
• Siderius Hamel syndrome
• Sideroblastic anemia- not a rare disease.
• Sideroblastic anemia and mitochondrial myopathy
• Sideroblastic anemia pyridoxine-refractory autosomal recessive
• Sideroblastic anemia pyridoxine-responsive autosomal recessive
• Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)
• Sideroblastic anemia with spinocerebellar ataxia
• Sideroblastic anemia X-linked
• Sideropenic dysphagia
• Siderosis
• Sidransky Feinstein Goodman syndrome
• SIDS
• Siegler Brewer Carey syndrome
• Siewert syndrome
• SIgMD
• Signet cell adenocarcinoma
• Signet ring cell carcinoma
• Signet ring cell gastric carcinoma
• Signet ring gastric carcinoma
• Silengo Lerone Pelizza syndrome
• Silicosiderosis
• Silicosis
• Sillence syndrome
• Silver Russell syndrome
• Silver spastic paraplegia syndrome
• Silver syndrome
• Silver-Russell dwarfism
• Silver-Russell syndrome
• Simian B virus infection
• Simmond's disease
• Simosa cranio facial syndrome
• Simosa craniofacial syndrome
• Simple kaolinosis
• Simpson dysmorphia syndrome
• Simpson-Golabi-Behmel syndrome
• Simultanagnosia
• Singapore hemorrhagic fever
• Singh Chhaparwal Dhanda syndrome
• Single central maxillary incisor
• Single upper central incisor
• Single ventricle
• Single ventricular heart
• Singleton-Merten dysplasia
• Singleton-Merten syndrome
• Sinonasal eosinophilic angiocentric fibrosis
• Sinonasal teratocarcinosarcoma (type)
• Sinonasal undifferentiated carcinoma
• Sinus cancer
• Sinus histiocytosis with massive lymphadenopathy
• Sinus node disease and myopia
• Sinus of Valsalva aneurysm
• Sinus venosus ASD
• Sinus venosus atrial septal defects
• Sinusitis-infertility syndrome
• Sinusoidal obstruction syndrome
• SIOD
• Sipple syndrome
• Sirenomelia
• Sirenomelia sequence
• Sirenomelus
• Sitosterolemia
• Situs ambiguous
• Situs ambiguus
• Situs inversus
• Situs inversus totalis
• Situs inversus totalis with cystic dysplasia of kidneys and pancreas
• Situs inversus viscerum
• Situs inversus with levocardia
• Situs inversus, complex cardiac defects, and splenic defects, X-linked
• Situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs ,severe intrauterine growth retardation, and oligohydramnios
• SIV
• Sixth cranial nerve palsy
• Sixth nerve palsy
• SJA syndrome
• Sjogren Larsson syndrome
• Sjogren syndrome- not a rare disease.
• Sjogren-Gougerot syndrome- not a rare disease.
• Sjogren-Larsson syndrome
• Sjögren-Larsson syndrome
• Sjogren-Larsson-like ichthyosis without CNS or eye involvement
• Sjogren-Larsson-like syndrome
• Sjogren's syndrome, juvenile, secondary to autoimmune disease
• SJS
• SJS/TEN
• SJS1
• SJS2
• Skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties
• Skeletal abnormalities, Cutis laxa, craniostenosis, Ambiguous genitalia, Retardation, and Facial abnormalities
• Skeletal dysplasia brachydactyly
• Skeletal dysplasia Jequier-Kozlowski type
• Skeletal dysplasia lethal with gracile bones
• Skeletal dysplasia related to campomelic dysplasia
• Skeletal dysplasia with amelogenesis imperfecta and platyspondyly
• Skeletal dysplasia, Greenberg type
• Skeletal dysplasia, San Diego type
• Skeletal dysplasias- not a rare disease.
• Skeletal-extraskeletal angiomatosis
• Skeleton skin brain syndrome
• Skin anthrax
• Skin cancer- not a rare disease.
• Skin fragility woolly hair syndrome
• Skin fragility-woolly hair-palmoplantar keratoderma syndrome
• Skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation
• Skin peeling syndrome
• Slavotinek Pike Mills Hurst syndrome
• SLC13A5 deficiency
• SLC29A3 spectrum disorder
• SLC35A1-CDG
• SLC35A1-CDG (CDG-IIf)
• SLC35A2-CDG
• SLC35C1-CDG (CDG-IIc)
• SLC4A1-associated distal renal tubular acidosis
• SLC6A3-Related Dopamine Transporter Deficiency Syndrome
• SLE- not a rare disease.
• Sleeping sickness
• Slipped capital femoral epiphysis- not a rare disease.
• Slipped capital femoral epiphysis.- not a rare disease.
• Slipped upper femoral epiphysis- not a rare disease.
• SLK
• SLO syndrome
• SLOS
• Slow channel congenital myasthenic syndrome
• Slow-channel congenital myasthenic syndrome
• SLS
• SLSD with SCID
• SLSJ syndrome
• Slti Salem syndrome
• Sly syndrome
• SM syndrome
• SMA
• SMA
• SMA 3
• SMA 4
• SMA II
• SMA type 1
• SMA type I
• SMA, infantile acute form
• SMA1
• SMA1 with congenital bone fractures
• SMA2
• SMA3
• SMA-I
• SMALED1
• SMA-LED1
• SMALED2
• Small benign fibrovascular tumor of the dermal part of the hair disk
• Small bowel adenocarcinoma
• Small bowel tumors
• Small cell bladder cancer
• Small cell bladder carcinoma
• Small cell carcinoma of the bladder
• Small cell carcinoma of the ovary
• Small cell carcinoma of the urinary bladder
• Small cell lung cancer
• Small Cell Neuroendocrine Carcinoma of the Lung
• Small cell variant of anaplastic large cell lymphoma
• Small Intestinal Adenocarcinoma
• Small intestinal atresia
• Small intestinal atresia
• Small intestine atresia
• Small intestine cancer
• Small patella syndrome
• Smallpox
• SMARD1
• SMCD
• SMD
• SMD Axial
• SMD Kozlowski type
• SMD with with bowed forearms and facial dysmorphism
• SMD-CRD
• SME
• SMECE
• Smed short limb-abnormal calcification type
• SMED short limb-hand type
• SMED Strudwick type
• SMED type 1
• SMED type 2
• SMED-SL
• SMEI
• Smith Fineman Myers syndrome
• Smith Lemli Opitz syndrome
• Smith McCort dysplasia
• Smith-Fineman-Myers syndrome
• Smith-Kingsmore syndrome
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• Smith-McCort dwarfism
• SMMCI
• SMNA
• SMRXS
• SMS
• SMS
• SNDI
• SNE
• Sneddon syndrome
• Sneddon Wilkinson disease
• Sneddon's syndrome
• Sneddon-Wilkinson disease
• Sneezing from light exposure
• Snowflake degeneration in hereditary vitreoretinal degeneration
• Snowflake vitreoretinal degeneration
• Snub-nosed type of dwarfism
• SNUC
• Snyder-Robinson syndrome
• SOD
• Sodium channel muscle disease
• Soft tissue sarcoma
• Sohar-Crisponi syndrome
• Sohval Soffer syndrome
• Solitary histiocytoma
• Solitary mastocytoma
• Solitary median maxillary central incisor
• Solitary median maxillary central incisor syndrome
• Solitary plasmacytoma
• Solitary reticulohistiocytosis
• Somatomedin end-organ insensitivity to
• Somatomedin-c resistance to
• Somatomedin-secreting carcinoid
• Somatostatinoma
• Somatostatin-secreting pancreatic neoplasm
• Somatotroph adenoma
• Somerville-Van Der AA syndrome
• Sommer Hines syndrome
• Sommer Rathbun Battles syndrome
• Sommer-Hines syndrome
• Sommer-Young-Wee-Frye syndrome
• Sondheimer syndrome
• Sonoda syndrome
• SOPH syndrome
• Sorsby syndrome
• Sorsby's pseudoinflammatory macular dystrophy
• SOS1 gene related Noonan syndrome
• SOST
• Sotos syndrome
• South american blastomycosis
• South American pemphigus
• South American trypanosomiasis- not a rare disease.
• SOX2 anophthalmia syndrome
• SOX2-related eye disorders
• Spahr type Metaphyseal chondrodysplasia
• Sparse hair and mental retardation
• Sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay
• Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation
• Spasmodic dysphonia
• Spasmodic torticollis
• Spastic angina with healthy coronary artery
• Spastic ataxia 4, autosomal recessive
• Spastic ataxia Charlevoix-Saguenay type
• Spastic ataxia of Charlevoix-Saguenay
• Spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs
• Spastic diplegia cerebral palsy
• Spastic diplegia infantile type
• Spastic dysphonia
• Spastic hemiplegia cerebral palsy
• Spastic hemiplegic cerebral palsy
• Spastic monoplegia cerebral palsy
• Spastic monoplegic cerebral palsy
• Spastic paralysis, infantile onset ascending
• Spastic paraparesis
• Spastic paraparesis - deafness
• Spastic paraparesis, childhood-onset, with distal muscle wasting
• Spastic paraplegia - intellectual deficit - thin corpus callosum
• Spastic paraplegia - nephritis - deafness
• Spastic paraplegia 1
• Spastic paraplegia 10
• Spastic paraplegia 11
• Spastic paraplegia 12
• Spastic paraplegia 13
• Spastic paraplegia 14
• Spastic paraplegia 15
• Spastic paraplegia 16
• Spastic paraplegia 17
• Spastic paraplegia 18
• Spastic paraplegia 19
• Spastic paraplegia 2
• Spastic paraplegia 20
• Spastic paraplegia 20, autosomal recessive
• Spastic paraplegia 23
• Spastic paraplegia 24
• Spastic paraplegia 25
• Spastic paraplegia 26
• Spastic paraplegia 29
• Spastic paraplegia 3
• Spastic paraplegia 31
• Spastic paraplegia 31, autosomal dominant
• Spastic paraplegia 32
• Spastic paraplegia 35, autosomal recessive
• Spastic paraplegia 39
• Spastic paraplegia 4
• Spastic paraplegia 47
• Spastic paraplegia 51
• Spastic paraplegia 51, autosomal recessive
• Spastic paraplegia 5A
• Spastic paraplegia 5B
• Spastic paraplegia 6
• Spastic paraplegia 7
• Spastic paraplegia 8
• Spastic paraplegia 9
• Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation
• Spastic paraplegia and pigmentary abnormalities
• Spastic paraplegia and retinal degeneration
• Spastic paraplegia associated with brachydactyly type E
• Spastic paraplegia facial cutaneous lesions
• Spastic paraplegia neuropathy poikiloderma
• Spastic paraplegia type 5A
• Spastic paraplegia vitiligo premature graying and characteristic facies
• Spastic paraplegia with amyotrophy of hands and feet
• Spastic paraplegia with iron deposits in basal ganglia
• Spastic paraplegia with precocious puberty
• Spastic paraplegia, autosomal recessive, Troyer type
• Spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy
• Spastic paraplegia-epilepsy-intellectual disability syndrome
• Spastic paraplegia-glaucoma-intellectual disability syndrome
• Spastic quadriplegia cerebral palsy
• Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome
• Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• Spastic quadriplegic cerebral palsy
• Spastic tetraplegia cerebral palsy
• Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
• Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
• Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• Spasticity multiple exostoses
• SPATCCM
• SPAX4
• SPD
• Spear syndrome
• Specific antibody deficiency
• Specific granule deficiency
• Specific language impairment
• Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering
• Speech and language disorder with orofacial dyspraxia
• Speech-language disorder type 1
• Speech-language disorder-1
• SPEL syndrome
• SPEMR
• SPENCD
• Spermatogenesis arrest
• SPERMATOGENIC FAILURE 5
• SPERMATOGENIC FAILURE 9
• SPG
• SPG 23
• SPG1
• SPG10
• SPG11
• SPG12
• SPG13
• SPG14
• SPG15
• SPG16
• SPG17
• SPG18
• SPG19
• SPG2
• SPG20
• SPG24
• SPG25
• SPG26
• SPG29
• SPG3
• SPG31
• SPG32
• SPG35
• SPG39
• SPG3A
• SPG4
• SPG49
• SPG51
• SPG5A
• SPG5B
• SPG6
• SPG7
• SPG8
• SPG9
• SPGF5
• SPGF9
• Sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate
• Spherocytic anemia
• Spheroid body myopathy
• Spherophakia-brachymorphia syndrome
• Sphingolipidoses
• Sphingolipidosis
• Sphingolipidosis 1
• Sphingolipidosis, Tay-Sachs
• Sphingomyelin lipidosis
• Sphingomyelinase deficiency
• Spiegler-Brooke syndrome
• Spielmeyer Sjogren disease
• Spina bifida
• Spina bifida hypospadias
• Spina bifida occulta- not a rare disease.
• Spinal and bulbar muscular atrophy
• Spinal arachnoiditis
• Spinal arteriovenous metameric syndrome
• Spinal atrophy ophthalmoplegia pyramidal syndrome
• Spinal CSF leak
• Spinal disc herniation with autosomal recessive spastic paraplegia
• Spinal dysraphism
• Spinal intradural arachnoid cysts
• Spinal meningioma
• Spinal muscular atrophy
• Spinal muscular atrophy 1
• Spinal muscular atrophy 4
• Spinal muscular atrophy juvenile nonprogressive
• Spinal muscular atrophy Ryukyuan type
• Spinal muscular atrophy type 1 with congenital bone fractures
• Spinal muscular atrophy type 2
• Spinal muscular atrophy type 3
• Spinal muscular atrophy type 4
• Spinal muscular atrophy type II
• Spinal muscular atrophy with respiratory distress 1
• Spinal muscular atrophy, adult form
• Spinal muscular atrophy, distal, autosomal recessive, 1
• Spinal muscular atrophy, Jerash type
• Spinal muscular atrophy, lower extremity-predominant 1, AD
• Spinal muscular atrophy, lower extremity-predominant 1, dominant
• Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant
• Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant
• Spinal muscular atrophy, mild childhood and adolescent form
• Spinal muscular atrophy, proximal, adult, autosomal recessive
• Spinal shock
• Spindle cell rhabdomyosarcomas (type of ERMS)
• Spinobulbar muscular atrophy
• Spinocerebellar ataxia
• Spinocerebellar ataxia 1
• Spinocerebellar ataxia 10
• Spinocerebellar ataxia 11
• Spinocerebellar ataxia 12
• Spinocerebellar ataxia 13
• Spinocerebellar ataxia 14
• Spinocerebellar ataxia 15
• Spinocerebellar ataxia 16 (formerly)
• Spinocerebellar ataxia 16q22-linked
• Spinocerebellar ataxia 17
• Spinocerebellar ataxia 18
• Spinocerebellar ataxia 19 and 22
• Spinocerebellar ataxia 2
• Spinocerebellar ataxia 20
• Spinocerebellar ataxia 21
• Spinocerebellar ataxia 23
• Spinocerebellar ataxia 24 (formerly)
• Spinocerebellar ataxia 25
• Spinocerebellar ataxia 26
• Spinocerebellar ataxia 27
• Spinocerebellar ataxia 28
• Spinocerebellar ataxia 29
• Spinocerebellar ataxia 3
• Spinocerebellar ataxia 30
• Spinocerebellar ataxia 31
• Spinocerebellar ataxia 34
• Spinocerebellar ataxia 35
• Spinocerebellar ataxia 36
• Spinocerebellar ataxia 37
• Spinocerebellar ataxia 38
• Spinocerebellar ataxia 4
• Spinocerebellar ataxia 40
• Spinocerebellar ataxia 5
• Spinocerebellar ataxia 6
• Spinocerebellar ataxia 7
• Spinocerebellar ataxia 8
• Spinocerebellar ataxia 8 (formerly)
• Spinocerebellar ataxia 9
• Spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness
• Spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy
• Spinocerebellar ataxia autosomal recessive 3
• Spinocerebellar ataxia autosomal recessive 4
• Spinocerebellar ataxia autosomal recessive 5
• Spinocerebellar ataxia autosomal recessive 6
• Spinocerebellar ataxia autosomal recessive 7
• Spinocerebellar ataxia autosomal recessive 8
• Spinocerebellar ataxia autosomal recessive with axonal neuropathy
• Spinocerebellar ataxia Cuban type
• Spinocerebellar ataxia infantile with sensory neuropathy
• Spinocerebellar ataxia type 1
• Spinocerebellar ataxia type 10
• Spinocerebellar ataxia type 11
• Spinocerebellar ataxia type 12
• Spinocerebellar ataxia type 13
• Spinocerebellar ataxia type 14
• Spinocerebellar ataxia type 15
• Spinocerebellar ataxia type 17
• Spinocerebellar ataxia type 18
• Spinocerebellar ataxia type 2
• Spinocerebellar ataxia type 20
• Spinocerebellar ataxia type 21
• Spinocerebellar ataxia type 23
• Spinocerebellar ataxia type 25
• Spinocerebellar ataxia type 26
• Spinocerebellar ataxia type 27
• Spinocerebellar ataxia type 28
• Spinocerebellar ataxia type 29
• Spinocerebellar ataxia type 30
• Spinocerebellar ataxia type 31
• Spinocerebellar ataxia type 4
• Spinocerebellar ataxia type 40
• Spinocerebellar ataxia type 5
• Spinocerebellar ataxia type 6
• Spinocerebellar ataxia type 7
• Spinocerebellar ataxia type 8
• Spinocerebellar ataxia type 9
• Spinocerebellar ataxia with axonal neuropathy
• Spinocerebellar ataxia with axonal neuropathy type 1
• Spinocerebellar ataxia with axonal neuropathy type 2
• Spinocerebellar ataxia with blindness and deafness
• Spinocerebellar ataxia with dysmorphism
• Spinocerebellar ataxia with saccadic intrusions
• Spinocerebellar ataxia with slow eye movements
• Spinocerebellar ataxia X-linked type 2
• Spinocerebellar ataxia X-linked type 3
• Spinocerebellar ataxia X-linked type 4
• Spinocerebellar ataxia, autosomal recessive 2
• Spinocerebellar ataxia, Friedreich
• Spinocerebellar atrophy 1
• Spinocerebellar atrophy 2
• Spinocerebellar atrophy type 3
• Spinocerebellar degeneration and corneal dystrophy
• Spinocerebellar degeneration corneal dystrophy
• Spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia
• Spinocerebellar degeneration with slow eye movements
• Spinopontine atrophy
• Spirochaetales Infections
• Spirochetes disease
• Spirurida Infections
• Spitz naevus
• Spitz nevi
• Spitz nevus
• Spleen cancer
• Spleen neoplasm
• Splenic agenesis syndrome
• Splenic infarcts
• Splenic neoplasm
• Splenic ptosis
• Splenogonadal fusion limb defects micrognatia
• Splenogonadal fusion limb defects syndrome
• Splenomegaly
• Splenoptosis
• Split cord malformation
• Split cord malformation type 1
• Split hand deformity 1
• Split hand deformity-mandibulofacial dysostosis
• Split hand foot anomaly - X-linked
• Split hand foot deformity 1
• Split hand foot deformity 2
• Split hand foot malformation
• Split hand foot malformation 1
• Split hand malformation1
• Split hand nystagmus syndrome
• Split hand split foot malformation autosomal recessive
• Split hand split foot mandibular hypoplasia
• Split hand split foot nystagmus
• Split hand urinary anomalies spina bifida
• Split hand/foot malformation X-linked
• Split spinal cord malformation
• Split-foot deformity with ectrodactyly and mandibulofacial dysostosis
• Split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects
• Split-hand/foot malformation with long bone deficiency
• SPM
• SPMD
• SPMM
• Sponastrime dysplasia
• Spondylar and nasal alterations with striated metaphyses
• Spondylarthropathy
• Spondylo camptodactyly syndrome
• Spondylocamptodactyly
• Spondylocarpotarsal syndrome
• Spondylocarpotarsal synostosis syndrome
• Spondylocostal dysostosis
• Spondylocostal dysostosis 1
• Spondylocostal dysostosis 1 autosomal recessive
• Spondylocostal dysostosis 2
• Spondylocostal dysostosis 2, autosomal recessive
• Spondylocostal dysostosis 3
• Spondylocostal dysostosis 3, autosomal recessive
• Spondylocostal dysostosis 4
• Spondylocostal dysostosis 4, autosomal recessive
• Spondylocostal dysostosis 5
• Spondylocostal dysostosis 6
• Spondylocostal dysostosis 6, autosomal recessive
• Spondylocostal dysplasia
• Spondylodysplastic Ehlers-Danlos syndrome
• Spondyloenchondrodysplasia
• Spondyloenchondromatosis
• Spondylo-epimetaphyseal dysplasia
• Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
• Spondyloepimetaphyseal dysplasia Genevieve type
• Spondyloepimetaphyseal dysplasia joint laxity
• Spondyloepimetaphyseal dysplasia Matrilin-3 related
• Spondyloepimetaphyseal dysplasia Matrilin-3 type
• Spondyloepimetaphyseal dysplasia micromelic
• Spondyloepimetaphyseal dysplasia Missouri type
• Spondyloepimetaphyseal dysplasia Shohat type
• Spondyloepimetaphyseal dysplasia Sponastrime type
• Spondyloepimetaphyseal dysplasia Strudwick type
• Spondyloepimetaphyseal dysplasia type 2
• Spondyloepimetaphyseal dysplasia with hypotrichosis
• Spondyloepimetaphyseal dysplasia with joint laxity
• Spondyloepimetaphyseal dysplasia with multiple dislocations
• Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type
• Spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type
• Spondyloepimetaphyseal dysplasia X-linked
• Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
• Spondyloepimetaphyseal dysplasia, Aggrecan type
• Spondyloepimetaphyseal dysplasia, Handigodu type- not a rare disease.
• Spondyloepimetaphyseal dysplasia, Missouri type
• Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
• Spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency
• Spondyloepiphyseal dysplasia
• Spondyloepiphyseal dysplasia congenita
• Spondyloepiphyseal dysplasia Maroteaux type
• Spondyloepiphyseal dysplasia nephrotic syndrome
• Spondyloepiphyseal dysplasia pseudoachondroplastic 2
• Spondyloepiphyseal dysplasia tarda - progressive arthropathy
• Spondyloepiphyseal dysplasia tarda with progressive arthropathy
• Spondyloepiphyseal dysplasia tarda X-linked
• Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
• Spondyloepiphyseal dysplasia, congenital type
• Spondyloepiphyseal dysplasia, Maroteaux type
• Spondyloepiphyseal dysplasia, pseudoachondroplastic
• Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
• Spondylohumerofemoral hypoplasia
• Spondylohypoplasia, arthrogryposis and popliteal pterygium
• Spondylometaepiphyseal dysplasia Anauxetic type
• Spondylometaepiphyseal dysplasia Menger type
• Spondylometaepiphyseal dysplasia short limb-abnormal calcification type
• Spondylometaepiphyseal dysplasia short limb-hand type
• Spondylometaphyseal dysplasia A4 type
• Spondylometaphyseal dysplasia Algerian type
• Spondylometaphyseal dysplasia axial type
• Spondylometaphyseal dysplasia corner fracture type
• Spondylometaphyseal dysplasia East-African type
• Spondylometaphyseal dysplasia Richmond type
• Spondylometaphyseal dysplasia Schmidt type
• Spondylometaphyseal dysplasia Sedaghatian type
• Spondylometaphyseal dysplasia Sutcliffe type
• Spondylometaphyseal dysplasia type A4
• Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
• Spondylometaphyseal dysplasia with cone-rod dystrophy
• Spondylometaphyseal dysplasia with dentinogenesis imperfecta
• Spondylometaphyseal dysplasia with enchondromatous changes
• Spondylometaphyseal dysplasia with severe genu valgum
• Spondylometaphyseal dysplasia X-linked
• Spondylometaphyseal dysplasia, Kozlowski type
• Spondyloperipheral dysplasia
• Spondyloperipheral dysplasia with short ulna
• Spondylospinal thoracic dysostosis
• Spondylothoracic dysostosis
• Spondylothoracic dysostosis
• Spondylothoracic dysplasia
• Sponge kidney
• Spongy degeneration of the central nervous system
• Spongy myocardium
• Spontaneous coronary artery dissection
• Spontaneous dactylolysis
• Spontaneous occlusion of the circle of Willis
• Spontaneous perforation of the esophagus
• Spontaneous periodic hypothermia
• Spontaneous periodic hypothermia syndrome
• Spontaneous pneumothorax
• Spontaneous recurrent hypothermia syndrome
• Spontaneous rupture of the esophagus
• Sporadic inclusion body myositis
• Sporotrichosis
• Spotted bones
• Spotted fever
• SPPK1
• SPPX2
• SPR deficiency
• Sprengel deformity
• Sprengel's deformity
• Sprengel's shoulder
• SPS
• SPSMA
• SPTCL
• Spun glass hair
• Squamous cell carcinoma- not a rare disease.
• Squamous cell carcinoma of the head and neck- not a rare disease.
• Squamous cell skin cancer- not a rare disease.
• SRD5A3-CDG
• SRD5A3-CDG (CDG-Iq)
• SRN1
• SRPS type 1
• SRPS type 2
• SRPS type 3
• SRPS type 4
• SRS
• SS
• SSADH deficiency
• SSB syndrome
• SSCM
• SSD
• SSDD
• SSPE
• SSR4-CDG
• SSS
• St Anthony's fire
• St. Helena familial genu valgum
• St. Vitus dance
• ST3GAL5-CDG
• Stachybotrys atra
• Stachybotrys chartarum
• Stale fish syndrome
• Stalker Chitayat syndrome
• Stanescu osteosclerosis
• Stankiewicz-Isidor syndrome
• Stapedo-vestibular ankylosis
• Staphylococcal food poisoning
• Staphylococcal toxic shock syndrome
• STAR syndrome
• Stargardt disease
• Stargardt macular dystrophy
• Stark-Kaeser syndrome
• Startle disease
• Startle disease, familial
• Startle reaction, exaggerated
• Static encephalopathy of childhood with neurdegeneration in adulthood
• STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD
• Stationary night blindness, Oguchi type
• Status epilepticus
• Status epilepticus owing to presumed encephalitis
• Steatocystoma multiplex
• Steatocystoma multiplex with natal teeth
• Steatosis of liver
• Steele-Richardson-Olszewski Syndrome
• Steely hair disease
• Steinert disease
• Steinert myotonic dystrophy
• Steinert's disease
• Steinfeld syndrome
• Stenotrophomonas maltophilia
• Stenotrophomonas maltophilia infection
• Stern Lubinsky Durrie syndrome
• Sternal cleft
• Sternal nonunion with supraumbilical raphe
• Steroid 11-beta-hydroxylase deficiency
• Steroid dehydrogenase deficiency dental anomalies
• Steroid sulfatase deficiency
• Steroid sulfatase deficiency disease
• Steroid-responsive encephalopathy associated with autoimmune thyroiditis
• Sterol 27-hydroxylase deficiency
• Sterol c5-desaturase deficiency
• STEROL CARRIER PROTEIN 2 DEFICIENCY
• Stevens-Johnson syndrome
• Stevens-Johnson syndrome toxic epidermal necrolysis spectrum
• Stevens-Johnson syndrome/toxic epidermal necrolysis
• Stewart Treves syndrome
• STHE
• Stickler syndrome
• Stickler syndrome nonocular type
• Stickler syndrome type 1
• Stickler syndrome, beaded vitreous type
• Stickler syndrome, membranous vitreous type
• Stickler syndrome, type 2
• Stickler syndrome, type 3
• Stickler syndrome, vitreous type 1
• Stickler syndrome, vitreous type 2
• Sticky platelet syndrome- not a rare disease.
• Stiff lung
• Stiff man syndrome
• Stiff person syndrome
• Stiff person syndrome and related disorders
• Stiff skin syndrome
• Stiff-baby syndrome
• Stiff-man syndrome, congenital
• Stiff-person syndrome, congenital
• Still disease
• Stilling-Turk-Duane syndrome
• Still's disease (formerly)
• Still's disease adult onset
• Stimmler syndrome
• STING-associated vasculopathy with onset in infancy
• STL 2
• STL1
• STL3
• Stocco dos Santos syndrome
• Stoelinga de Koomen Davis syndrome
• Stoll Alembik Finck syndrome
• Stoll-Alembik-Finck syndrome
• Stoll-Géraudel-Chauvin syndrome
• Stoll-Kieny-Dott syndrome
• Stoll-Levy-Francfort syndrome
• Stoll-Lévy-Francfort syndrome
• Stomach cancer
• Stomach carcinoma
• Stomach Lymphoma, Non-Hodgkins type
• Stomatocytosis I
• Stomatocytosis, cold-sensitive
• Stomatodynia- not a rare disease.
• Storage pool platelet disease
• Storm syndrome
• Stormorken syndrome
• Stormorken-Sjaastad-Langslet syndrome
• Strabismus from superior oblique palsy
• Straight-chain Acyl-CoA oxidase deficiency
• Strasburger-Hawkins-Eldridge syndrome
• Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome
• Stratton Parker syndrome
• Stratton-Garcia-Young syndrome
• Streeter anomaly
• Streptococcal Group A invasive disease
• Streptococcal Group B invasive disease
• Stress cardiomyopathy
• Stress polycythemia
• Stress-induced cardiomyopathy
• Stress-induced polymorphic ventricular tachycardia
• Striatal degeneration familial
• Striate palmoplantar keratoderma 1
• Striate palmoplantar keratoderma 3
• Striatonigral degeneration infantile
• Striopallidodentate calcinosis autosomal dominant adult-onset
• Strongyloidiasis
• Strudwick syndrome
• Strumpell disease
• Strümpell-Lorrain disease
• STT3A-CDG and STT3B-CDG
• Stuart factor deficiency, congenital
• Stuart-Prower factor deficiency
• Sturge Weber syndrome
• Sturge-Weber syndrome
• Stuttgart disease
• Stuve-Wiedemann syndrome
• Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
• STWS
• STXBP1 disorders
• STXBP1-related early-onset encephalopathy
• Styloid-stylohyoid syndrome
• Subacute Berylliosis
• Subacute cerebellar degeneration
• Subacute cutaneous lupus- not a rare disease.
• Subacute necrotizing encephalomyelopathy maternally inherited
• Subacute necrotizing encephalopathy
• Subacute sclerosing panencephalitis
• Subacute spongiform encephalopathy, Gerstmann-Straussler type
• Subaortic stenosis
• Subaortic stenosis short stature syndrome
• Subcorneal pustular dermatitis
• Subcorneal pustular dermatosis
• Subcortical band heterotopia
• Subcortical vascular encephalopathy, progressive
• Subcutaneous panniculitis-like T-cell lymphoma
• Subependymal astrocytoma (formerly)
• Subependymal giant cell astrocytoma
• Subependymal nodular heterotopia
• Subependymoma
• Subglottic bar, congenital heart disease and low stature
• Submacular cysticercosis
• Submandibular, ocular, and rectal pain with flushing
• Subpulmonary stenosis
• Subungual exostoses
• Subungual melanoma
• Subvalvular aortic stenosis
• Succinate CoQ reductase deficiency
• Succinic semialdehyde dehydrogenase deficiency
• Succinylcholine Sensitivity
• Succinyl-CoA acetoacetate transferase deficiency
• Succinyl-CoA:3-oxoacid CoA transferase deficiency
• Sucrase-isomaltase deficiency, congenital
• Sucrose intolerance congenital
• Sucrose isomaltose enzyme deficiency
• Sucrose-isomaltase malabsorption, congenital
• Sudden Arrhythmia Death Syndrome
• Sudden arrhythmic death syndrome
• Sudden deafness
• Sudden infant death - dysgenesis of the testes
• Sudden infant death syndrome
• Sudden infant death with dysgenesis of the testes syndrome
• Sudden infant death-dysgenesis of the testes syndrome
• Sudden onset of unilateral flushing and sweating
• Sudden sensorineural hearing loss
• Sudden unexpected nocturnal death syndrome
• SUFE- not a rare disease.
• Sugarman brachydactyly
• Sugarman syndrome
• Sugio-Kajii Syndrome
• Sulfatide lipidosis
• Sulfatidosis juvenile, Austin type
• Sulfite oxidase deficiency
• Sulfocysteinuria
• Summerskill syndrome
• Summerskill-Walshe-Tygstrup syndrome
• Summertime actinic lichenoid eruption
• SUNA
• SUNA headache
• SUNCT headache
• SUNCT syndrome
• Suo yang
• Superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality
• Superficial lymphangioma
• Superficial lymphatic malformation
• Superficial siderosis of the central nervous system
• Superficial spreading melanoma
• Superior canal dehiscence syndrome
• Superior limbic keratoconjunctivitis
• Superior mesenteric artery syndrome
• Superior oblique oculomotor palsy, familial congenital
• Superior Oblique Tendon Sheath syndrome
• Superior semicircular canal dehiscence syndrome
• Supernumerary der(22) syndrome
• Supernumerary der(22),t(11;22) syndrome
• Supernumerary digits
• Supernumerary nipple- not a rare disease.
• Suprabulbar paresis congenital
• Supraglottic laryngeal cancer
• Supraglottic laryngeal carcinoma
• Supranuclear ocular palsy
• Supranuclear palsy, progressive
• Supratentorial Embryonal Tumor, NOS
• Supratentorial Embryonal Tumor, Not Otherwise Specified
• Supratentorial primitive neuroectodermal tumor
• Supratentorial primitive neuroectodermal tumors, childhood
• Supraumbilical midabdominal raphe and facial cavernous hemangiomas
• Supravalvar aortic stenosis, Eisenberg type
• Supravalvular aortic stenosis
• Surdo-cardiac syndrome
• Susac syndrome
• Susceptibility to acute infection-induced encephalopathy-3
• Susceptibility to acute necrotizing encephalopathy
• Susceptibility to Autism, 14B
• Susceptibility to autism, X-linked
• Susceptibility to Infection-Induced Acute Encephalopathy 3
• Susceptibility to severe cutaneous adverse reaction ITY TO
• Susceptibility to Tinea imbricata
• Susceptibility to valproate embryopathy
• Sutcliffe SMD
• Sutcliffe type of spondylometaphyseal dysplasia
• Sutherland-Haan syndrome
• Sutherland-Haan X-linked mental retardation syndrome
• Sutton disease 2
• Suxamethonium Sensitivity
• SVA
• SVAS
• SVD
• Swamp fever
• Sweet syndrome
• Swimmer's itch
• Swineherd's disease
• SWS
• SWS type I - Facial and leptomeningeal angiomas
• SWS type II - Facial angioma alone, no CNS involvement
• SWS type III - Isolated leptomeningeal angiomas
• Swyer syndrome
• Swyer-James syndrome
• Swyer-James-MacLeod syndrome
• Sydenham chorea
• Sydenham's chorea
• Symbrachydactyly of the hand and foot
• Symmastia
• Symmetric dyschromatosis of the extremities
• Symmetric infantile thalamic degeneration
• Symmetrical infantile thalamic degeneration
• Symmetrical thalamic calcifications
• Symmetrical thalamic degeneration in infants
• Symphalangism brachydactyly syndrome
• Symphalangism distal
• Symphalangism with multiple anomalies of hands and feet
• Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
• Symphalangism, proximal, 1A (subtype)
• Symphalangism, proximal, 1B (subtype)
• Symphalangism, short stature, skeletal anomalies, and accessory testis
• Syncopal paroxysmal tachycardia
• Syncope familial neurocardiogenic
• Syndactylic oxycephaly
• Syndactyly- not a rare disease.
• Syndactyly Cenani Lenz type
• Syndactyly ectodermal dysplasia cleft lip palate hand foot
• Syndactyly Malik-Percin type
• Syndactyly mesoaxial synostotic with phalangeal reduction
• Syndactyly of fingers four and five
• Syndactyly of the ring and little finger
• Syndactyly type 1
• Syndactyly type 2
• Syndactyly type 3
• Syndactyly type 4
• Syndactyly type 5
• Syndactyly type 7
• Syndactyly type 9
• Syndactyly type I with microcephaly and mental retardation
• Syndactyly with associated metacarpal and metatarsal fusion
• Syndactyly, preaxial polydactyly and sternal deformity
• Syndactyly, telecanthus, anogenital and renal malformations
• Syndactyly-ectodermal dysplasia-cleft/lip palate
• Syndactyly-polydactyly-earlobe syndrome
• Syndermotic cataract and congenital ichthyosis
• Syndromatic diarrhea
• Syndrome of coronal craniosynostosis
• Syndrome of dwarfism, mental retardation, lens opacities, nystagmus, strabismus, cryptorchidism and absent patellae
• Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
• Syndrome of inappropriate antidiuretic hormone- not a rare disease.
• Syndrome of inappropriate antidiuretic hormone secretion- not a rare disease.
• Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies
• Syndrome of microtia and aortic arch anomalies
• Syndrome of polyneuropathy, skin hyperpigmentation, oedema and hepatosplenomegaly
• Syndrome of pseudomyxoma peritonei
• Syndrome of tetraamelia with pulmonary hypoplasia
• Syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis: HaNDL
• Syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)
• Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition
• Syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart
• Syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear
• Syndromic diarrhea
• Syndromic diarrhea/Tricho-hepato-enteric syndrome
• Syndromic microphthalmia type 1
• Syndromic microphthalmia type 2
• Syndromic microphthalmia type 4
• Syndromic microphthalmia type 5
• Syndromic microphthalmia type 6
• Syndromic microphthalmia type 7
• Syndromic microphthalmia type 8
• Syndromic microphthalmia, type 3
• Syndromic microphthalmia-12
• Syndromic multisystem autoimmune disease
• SYNE1-related autosomal recessive cerebellar ataxia
• Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia and Autism
• SYNGAP1 syndrome
• SYNGAP1-related non-syndromic intellectual disability
• SYNGAP1-related NSID
• Syngnathia cleft palate
• Syngnathia multiple anomalies
• Synostoses multiple with brachydactyly
• Synostoses, tarsal, carpal, and digital
• Synostosis of talus and calcaneus short stature
• Synovial Chondromatosis
• Synovial chondromatosis, familial with dwarfism
• Synovial osteochondromatosis
• Synovial sarcoma
• Synovitis
• Synovitis acne pustulosis hyperostosis osteitis
• Synovitis granulomatous with uveitis and cranial neuropathies
• Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis
• Synpolydactyly
• SYNS1
• SYNS2
• Synspondylism congenital
• Syphilitic aseptic meningitis
• Syphilitic meningitis
• Syphilitic myelopathy
• Syringobulbia
• Syringocystadenoma papilliferum
• Syringoma- not a rare disease.
• Syringomyelia
• Systemic AL amyloidsis
• Systemic candida infections
• Systemic candidiasis
• Systemic capillary leak syndrome
• Systemic exertion intolerance disease- not a rare disease.
• Systemic hemosiderosis due to aceruloplasminemia
• Systemic IgG4-related plasmacytic syndrome
• Systemic IgG4-related sclerosing syndrome
• Systemic juvenile idiopathic arthritis
• Systemic lupus erythematosus- not a rare disease.
• Systemic mast cell disease
• Systemic mastocytosis
• Systemic necrotizing angitis
• Systemic onset juvenile idiopathic arthritis
• Systemic onset juvenile rheumatoid arthritis
• Systemic polyarthritis
• Systemic primary carnitine deficiency
• Systemic scleroderma
• Systemic sclerosis
• Systemic sclerosis sine scleroderma
• SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TO
• Systemic-onset JIA
• Systemic-onset juvenile idiopathic arthritis

NIH genetic and rare disease info

• NIH info on List of rare diseases-S

List of rare diseases-S is a rare disease.