List of rare diseases-S
From WikiMD's Wellnesspedia
NIH genetic and rare disease info[edit source]
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[edit source]
List of rare diseases-S is a rare disease.
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Contributors: Prab R. Tumpati, MD