Skip to main content

← All communities

Conditions

Starting with S

Private, moderated rooms - one per condition - with verified information and people who get it.

Sabinas Brittle Hair SyndromeA nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility.Sacrum ChordomaA spinal chordoma that is in the sacrum.SADDANA syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that is caused by heterozygous mutation in the FGFR3 gene on chromosome 4p16.Saethre-Chotzen SyndromeAn acrocephalosyndactylia that is caused by a genetic mutation in the TWIST1 gene which causes premature fusion in skull.Sakati-Nyhan SyndromeAn acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breat Salivary Gland Adenoid Cystic CarcinomaA salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These str Salivary Gland CancerCancer of the salivary glands.Salivary Gland CarcinomaA salivary gland cancer that is caused by epithelial cells.Salivary Gland DiseaseA mouth disease in the salivary gland.Salivary Gland DisordersConditions affecting the glands that make saliva.Salivary Gland Mucinous AdenocarcinomaA salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.Salivary Gland Mucoepidermoid CarcinomaA mucoepidermoid carcinoma in the salivary gland.SalmonellaA bacterial infection causing diarrhea and fever.SalmonellosisA primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four SalpingitisA fallopian tube disease that is characterized by inflammation of the fallopian tube.Salpingitis Isthmica NodosaA chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation.Salt and Pepper SyndromeA syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that is caused by homozygous or compound heterozygous mutation Sandestig-Stefanova SyndromeA syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and po Sandhoff DiseaseA GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that is caused by mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.SAPHO SyndromeA syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis.SarcocystosisA coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, mu SarcoidosisClumps of inflammatory cells form in organs, often the lungs. Tracking your symptoms and connecting with others who understand can help you manage day to day.SarcomaCancer that starts in bone or soft tissue.Sarcomatoid CarcinomaA carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features.Sarcomatoid Transitional Cell CarcinomaA transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium.Sarcomatoid Uterine Corpus Endometrioid AdenocarcinomaAn endometrial adenocarcinoma that is caused by mesenchymal elements.SarcomatosisA sarcoma that causes the formation of numerous sarcomas or in various parts of the body.Sarcoma with BCOR Genetic AlterationsA small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.SarcosinemiaAn amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that is caused by homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2.SATB2-Associated SyndromeA syndrome that is caused by genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of Saul-Wilson SyndromeA bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that is caused b ScabiesA contagious skin infestation by tiny mites.Scalp-Ear-Nipple SyndromeAn ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that is caused by heterozygous mutation in Scapuloperoneal MyopathyA muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.Scapuloperoneal Spinal Muscular AtrophyA motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that is caused by hetero Scarlet FeverAn upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose,Schaaf-Yang SyndromeA syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that is caused by heterozygous mutation in the maternally imprinted gene MAGEL2 on c Scheie SyndromeA mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.Scheuermann'S DiseaseAn osteochondrosis that causes abnormal bone growth and curvature in thoracic vertebral column.Schimke Immuno-Osseous DysplasiaA spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It is Schindler DiseaseA lysosomal storage disease that is caused by homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.Schindler Disease Type 1A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that is caused by homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.Schindler Disease Type 3A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that is caused by homozygous or compound heterozygous mutation in the Schinzel Giedion SyndromeAn ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that is caus Schinzel Type PhocomeliaA syndrome characterized by severe malformations of upper and lower limbs, severely hypoplastic pelvis, and abnormal genitalia that is caused by homozygous or compound heterozygous mutation in the WNT7A gene on chromosom SchistosomiasisA parasitic infection from freshwater snails.Schizoaffective DisorderA combination of schizophrenia symptoms and mood disorder symptoms.Schizoid Personality DisorderA personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich SchizophreniaA serious condition that affects thinking, feelings, and behavior. Tracking your symptoms and connecting with others who understand can help you manage day to day.Schizophrenia 1A schizophrenia that is caused by an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35.Schizophrenia 10A schizophrenia that is caused by an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15.Schizophrenia 11A schizophrenia that is caused by a mutation on chromosome 10q22.3.Schizophrenia 12A schizophrenia that is caused by a mutation on chromosome 1p36.2.Schizophrenia 13A schizophrenia that is caused by a mutation on chromosome 15q13.Schizophrenia 14A schizophrenia that is caused by a mutation on chromosome 2q32.1.Schizophrenia 15A schizophrenia that is caused by a mutation of the SHANK3 gene on chromosome 22q13.33.Schizophrenia 16A schizophrenia that is caused by a mutation on chromosome 7q36.3.Schizophrenia 18A schizophrenia that is caused by a mutation of the SLC1A1 gene on chromosome 9p24.2.Schizophrenia 19A schizophrenia that is caused by heterozygous mutation in the RBM12 gene on chromosome 20q11.Schizophrenia 2A schizophrenia that is caused by an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21.Schizophrenia 3A schizophrenia that is caused by an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23.Schizophrenia 4A schizophrenia that is caused by an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21.Schizophrenia 5A schizophrenia that is caused by a mutation on chromosome 6q13-q26.Schizophrenia 6A schizophrenia that is caused by an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21.Schizophrenia 7A schizophrenia that is caused by an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32.Schizophrenia 8A schizophrenia that is caused by an autosomal dominant mutation of the SCZD8 gene on chromosome 18p.Schizophrenia 9A schizophrenia that is caused by a mutation of the DISC1 gene on chromosome 1q42.2.Schizophreniform DisorderA psychotic disorder that involves schizophrenia symptoms over time period of one month.Schizotypal Personality DisorderA personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.Schmid Metaphyseal ChondrodysplasiaA metaphyseal dysplasia that causes dwarfism and bowed legs.Schneckenbecken DysplasiaAn osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, is caused by homozygous or compound heterozygous mutation in th Schnitzler SyndromeA hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, causes rash, intermittent fever, arthralgia, and lymphadenopathy.Schnyder Corneal DystrophyA stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that is caused by heterozygous mutation in the UBAID1 gene on chromosome 1p36.Schopf-Schulz-Passarge SyndromeAn ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that is caused by homozygous or compound heterozygous mutation in th Schuurs-Hoeijmakers SyndromeAn autosomal dominant intellectual developmental disorder that is caused by an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2.Schwannoma of Twelfth Cranial NerveA neurilemmoma that is in the 12th cranial nerve.SchwannomatosisA RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors.Schwannomatosis 1A schwannomatosis that is caused by germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.Schwannomatosis 2A schwannomatosis that is caused by germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2.Schwartz-Jampel Syndrome 1A syndrome characterized by neuromyotonia and chondrodysplasia that is caused by hypomorphic mutations in the HSPG2 gene on chromosome 1p36.SciaticaPain radiating along the sciatic nerve from the lower back down the leg.Scimitar SyndromeA congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, de Scirrhous AdenocarcinomaAn adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma.Scleral DiseaseAn eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball.Scleredema AdultorumA skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, causes skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malig SclerocorneaA corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.SclerodermaHardening and tightening of the skin and connective tissue. Tracking your symptoms and connecting with others who understand can help you manage day to day.Scleromalacia PerforansA scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the s ScleroperikeratitisA scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and causes pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may prog Sclerosing Adenosis of BreastA proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue.Sclerosing Breast PapillomaA breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct.Sclerosing KeratitisA deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and causes pain, red eyes, photophobia, tearing, a SclerosteosisA hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.Sclerosteosis 1A sclerosteosis that is caused by homozygous mutation in the SOST gene on chromosome 17q21.Sclerosteosis 2A sclerosteosis that is caused by heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11.ScoliosisA sideways curve of the spine. Tracking your symptoms and connecting with others who understand can help you manage day to day.Scott SyndromeA blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that is caused by homozygous mutation in the TMEM16F gene on chromosome 12q Screw Worm Infectious DiseaseA myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subderm Scrotum Squamous Cell CarcinomaA squamous cell carcinoma that is in the scrotum.Scrub TyphusA typhus that is caused by Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough,ScurvyA nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and causes fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing.Sea-Blue HistiocytosisA sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.Seasonal Affective DisorderDepression that occurs during certain seasons.Sebaceous Breast CarcinomaA breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma.Sebaceous CarcinomaA skin cancer that arises from the sebaceous glands.Sebaceous Gland DiseaseA skin disease that is in the sebaceous gland.Seborrheic DermatitisA common scaly rash, often on the scalp or face. Tracking your symptoms and connecting with others who understand can help you manage day to day.Seborrheic Infantile DermatitisA seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown Seckel SyndromeA syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.Seckel Syndrome 1A Seckel syndrome that is caused by homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23.Seckel Syndrome 10A Seckel syndrome that is caused by compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24.Seckel Syndrome 2A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that is caused by homozygous mutation in the RBBP8 gene on chromosome 18q Seckel Syndrome 4A Seckel syndrome that is caused by homozygous mutation in the CENPJ gene on chromosome 13q12.Seckel Syndrome 5A Seckel syndrome that is caused by homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.Seckel Syndrome 6A Seckel syndrome that is caused by homozygous mutation in the CEP63 gene on chromosome 3q22.Seckel Syndrome 7A Seckel syndrome that is caused by compound heterozygous mutation in the NIN gene on chromosome 14q22.Seckel Syndrome 8A Seckel syndrome that is caused by homozygous mutation in the DNA2 gene on chromosome 10q21.Seckel Syndrome 9A Seckel syndrome that is caused by homozygous mutation in the TRAIP gene on chromosome 3p21.Secondary Progressive Multiple SclerosisA multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks.Secondary SyphilisA syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts fr Second-Degree Atrioventricular BlockAn atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded b Secretory DiarrheaA diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimul Segmental DystoniaA dystonia that affects two or more adjacent parts of the body.Seizure DisorderRecurrent episodes of abnormal brain activity.Selective IGA Deficiency DiseaseA selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tr Selective IgD Deficiency DiseaseA selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms.Selective IGE Deficiency DiseaseA dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases.Selective IGG Deficiency DiseaseA dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions.Selective IGM Deficiency DiseaseA selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.Selective Immunoglobulin Deficiency DiseaseA B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.Selective MutismInability to speak in certain social situations.Selective Pituitary Thyroid Hormone ResistanceA hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that is caused by heterozy Semantic AgnosiaAn agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.Semantic DementiaA primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.Seminal Vesicle Acute GonorrheaA gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation in the seminal vesicles caused by Neisseria gonorr Seminal Vesicle AdenocarcinomaA male reproductive organ cancer that arises from epithelial cells of glandular origin.Seminal Vesicle CystadenomaA seminal vesicle tumor that arises from glandular epithelial cells and that is in the seminal vesicle.SeminomaA germinoma that is caused by cells that make sperm and eggs.Sengers SyndromeA mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and is cause Senile CataractA cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.Senior-Loken SyndromeA syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.Senior-Loken Syndrome 1A Senior-Loken syndrome that is caused by homozygous mutation in the NPHP1 gene on chromosome 2q13.Senior-Loken Syndrome 4A Senior-Loken syndrome characterized by the association of the cystic renal disorder nephronophthisis with early-onset retinitis pigmentosa and that is caused by homozygous mutation in the NPHP4 gene on chromosome 1p36.Senior-Loken Syndrome 5A Senior-Loken syndrome that is caused by homozygous or compound heterozygous mutation in the IQCB1 gene on chromosome 3q13.Senior-Loken Syndrome 6A Senior-Loken syndrome characterized by the association of nephronophthisis resulting in end-stage renal disease in the second decade of life with retinal degeneration that is caused by homozygous mutation in the NPHP6 Senior-Loken Syndrome 7A Senior-Loken syndrome that is caused by homozygous or compound heterozygous mutation in the SDCCAG8 gene on chromosome 1q43.Senior-Loken Syndrome 8A Senior-Loken syndrome that is caused by homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.Senior-Loken Syndrome 9A Senior-Loken syndrome characterized by early-onset nephronophthisis and pigmentary retinopathy that is caused by homozygous or compound heterozygous mutation in the TRAF3IP1 gene on chromosome 2q37.Sennetsu FeverA primary bacterial infectious disease that causes infection, is caused by Neorickettsia sennetsu, which is transmitted by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection cau Sensorineural Hearing LossAn inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.Sensory Ataxic Neuropathy, Dysarthria, and OphthalmoparesisA mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that is caused by homozygous or c Sensory Organ Benign NeoplasmA nervous system benign neoplasm that is in a sensory organ.Sensory Peripheral NeuropathyA neuropathy that involves damage to sensory nerves of the peripheral nervous system.Sensory System CancerA nervous system cancer that is located in the sensory system.Sensory System DiseaseA nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory per Separation Anxiety DisorderExcessive anxiety about being separated from loved ones.Sepiapterin Reductase DeficiencyA dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that is ca SepsisA life-threatening overreaction to infection.Septic ArthritisAn arthritis that involves infection by a pathogen in joint.Septicemic PlagueA plague that causes infection in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection causes fever, causes chills, causes prostration, cause Septic MyocarditisAn acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation.Septooptic DysplasiaA syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that is caused by heterozygous, homozygous, or compound heterozygous mutation in the homeobo Serine DeficiencyAn amino acid metabolic disorder that is caused by defects in the biosynthesis of the amino acid L-serine.Serous Conjunctivitis Except ViralA viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge.Serous CystadenocarcinomaA cystadenocarcinoma that arises from epithelial cells originating in glandular tissue forming serous lesions.Serous Glue EarA non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment.Serous LabyrinthitisA labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.Sertoli Cell-Only SyndromeA male infertility disease characterized by male sterility, is caused by azospermia without abnormal sexual development.Sertoli Cell TumorA sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells.Sertoli-Leydig Cell TumorA sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements in the ovaries and testicles.Serum Amyloid a AmyloidosisAn amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body.SetariasisA filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria.Severe Acute Respiratory SyndromeA Coronavirus infectious disease that causes infection in respiratory tract, is caused by Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmit Severe Combined ImmunodeficiencyA rare immune disorder present at birth.Severe Combined Immunodeficiency 104A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that is caused by homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R)Severe Combined Immunodeficiency 105A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that is caused by homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31.Severe Combined Immunodeficiency 124A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that is caused by homozygous or compound heterozygous mutation in the NHEJ1 gene on chromoso Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-PosA severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that is caused by mutation in the RAG1 and RAG2 genes on chromosome 11p12.Severe Combined Immunodeficiency with Sensitivity to Ionizing RadiationA severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that is caused by mutation in the DCLRE1C gene on chr Severe Congenital Encephalopathy Due to MECP2 MutationA brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that is caused by hemizygous mutation in the MECP2 gene on chromosome Xq28.Severe Congenital NeutropeniaA neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.Severe Congenital Neutropenia 1A severe congenital neutropenia that is caused by heterozygous mutation in the neutrophil elastase gene on chromosome 19p13.Severe Congenital Neutropenia 2An autosomal dominant severe congenital neutropenia that is caused by heterozygous mutation in the GFI1 gene on chromosome 1p22.1.Severe Congenital Neutropenia 3A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic Severe Congenital Neutropenia 4A severe congenital neutropenia that is caused by homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31.Severe Congenital Neutropenia 5A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that is caus Severe Congenital Neutropenia 6A severe congenital neutropenia that is caused by homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3.Severe Congenital Neutropenia 7A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that is caused by homozygous or co Severe Congenital Neutropenia 8An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that is caused by heterozygous mutation in the SRP54 gene on chromos Severe COVID-19A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in childre Severe Pre-EclampsiaA pre-eclampsia that causes at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema o Sex Cord-Gonadal Stromal TumorA reproductive organ cancer that is in the sex cord-derived tissues of the ovary or testis and arises from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts.Sex Cord-Stromal Benign NeoplasmA reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.Sexual DysfunctionA male reproductive system disease that is characterized by disturbances in sexual desire or performance.Sexual Health DisorderA disease of mental health that involves the impairment in normal sexual functioning.Shellfish AllergyA food allergy triggered by Crustacea or Mollusca.Shift Work Sleep DisorderSleep problems from working non-standard hours.ShigellosisA primary bacterial infectious disease that causes infection in epithelium of colon, is caused by Shigella boydii, is caused by Shigella dysenteriae, is caused by Shigella flexneri, or is caused by Shigella sonnei, which ShinglesA painful rash caused by the chickenpox virus reactivating. Tracking your symptoms and connecting with others who understand can help you manage day to day.Short Bowel SyndromeAn intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.Short Chain Acyl-CoA Dehydrogenase DeficiencyA lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.Short QT SyndromeA rare heart rhythm condition.Short-Rib Thoracic Dysplasia 10 with or Without PolydactylyAn asphyxiating thoracic dystrophy that is caused by homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.Short-Rib Thoracic Dysplasia 11 with or Without PolydactylyAn asphyxiating thoracic dystrophy that is caused by homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.Short-Rib Thoracic Dysplasia 13 with or Without PolydactylyAn asphyxiating thoracic dystrophy that is caused by homozygous mutation in the CEP120 gene on chromosome 5q23.Short-Rib Thoracic Dysplasia 14 with PolydactylyAn asphyxiating thoracic dystrophy that is caused by homozygous mutation in the KIAA0586 gene on chromosome 14q23.Short-Rib Thoracic Dysplasia 18 with PolydactylyAn asphyxiating thoracic dystrophy that is caused by homozygous mutation in the IFT43 gene on chromosome 14q24.Short-Rib Thoracic Dysplasia 19 with or Without PolydactylyAn asphyxiating thoracic dystrophy that is caused by compound heterozygous mutation in the IFT81 gene on chromosome 12q24.Short-Rib Thoracic Dysplasia 6 with or Without PolydactylyAn asphyxiating thoracic dystrophy that is caused by homozygous mutation in the NEK1 gene on chromosome 4q33.Short-Rib Thoracic Dysplasia 7 with or Without PolydactylyAn asphyxiating thoracic dystrophy that is caused by homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.Short-Rib Thoracic Dysplasia 8 with or Without PolydactylyAn asphyxiating thoracic dystrophy that is caused by compound heterozygous mutation in the WDR60 gene on chromosome 7q36.Short-Rib Thoracic Dysplasia 9 with or Without PolydactylyAn asphyxiating thoracic dystrophy that is caused by homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive FaciesA syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that is caused by homozygous or compound heterozygous mutation in the EXOSC2 gene on c SHORT SyndromeA syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lip SHOX-Related Short StatureA bone development disease characterized by height below the third percentile for chronological age that is caused by mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively.Shrimp AllergyA crustacean allergy that triggered by shrimp.Shukla-Vernon SyndromeA syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that is caused b Shwachman-Diamond SyndromeA rare disorder affecting the pancreas and bone marrow.SialadenitisA salivary gland disease that is characterized as an infection of the salivary glands.SialuriaA lysosomal storage disease characterized by increased sialic acid in the urine.Siberian Tick TyphusA spotted fever that is caused by Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection causes fever, causes eschar, causes regional a SIBOToo much bacteria in the small intestine. Tracking your symptoms and connecting with others who understand can help you manage day to day.Sick Building SyndromeAn extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is ca Sickle Cell AnemiaA sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes Sickle Cell DiseaseInherited red blood cells that become sickle-shaped.Sickle Cell Disease CommunityFor people living with Sickle Cell Disease, their families, and caregivers.Sickle Cell TraitCarrying one sickle cell gene without having the disease.Siddiqi SyndromeA lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index an Sideroblastic AnemiaA microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).Sideroblastic Anemia 1A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and is caused by X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthas Sideroblastic Anemia 5A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that is caused by compound heterozygous mutation in the HSCB gene on chromosome 22q12.Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental DelayA sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 ge SiderosisA pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes.Siderosis of EyeAn eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body.Sifrim-Hitz-Weiss SyndromeAn autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems a Signet Ring Cell AdenocarcinomaAn adenocarcinoma that arises from epithelial cells originating in glandular tissue, which have signet ring appearance.Signet Ring Cell Variant Cervical Mucinous AdenocarcinomaA cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells.Signet Ring Lung AdenocarcinomaA lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus.SilicosisA pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.Silo Filler'S DiseaseA lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans.Silverman-Handmaker Type Dyssegmental DysplasiaAn osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encodin Silver-Russell SyndromeA physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of mi Simpson-Golabi-Behmel Syndrome Type 1A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and is caused by mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.Simpson-Golabi-Behmel Syndrome Type 2A syndrome that is caused by mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.SimultanagnosiaAn agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.Sinoatrial Node DiseaseA heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.Sinonasal Undifferentiated CarcinomaA nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells.SitosterolemiaAn intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, prematur Sitosterolemia 1A sitosterolemia that is caused by homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21.Sitosterolemia 2A sitosterolemia that is caused by homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21.Sjogren-Larsson SyndromeA syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and is caused by autosomal recessive inheritance of homozygous or compound heterozygous Sjogren'S SyndromeAn autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.Sjögren's SyndromeAn immune condition that causes dry eyes and dry mouth. Tracking your symptoms and connecting with others who understand can help you manage day to day.Skeletal TuberculosisAn extrapulmonary tuberculosis that results in formation of lesions located in bone.Skin Amelanotic MelanomaA skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells.Skin AngiosarcomaAn angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is in the skin and causes an enlarged bruise (a blue-black nodule) and an unhealed ulceration.Skin CancerAn integumentary system cancer in the skin that is the uncontrolled growth of abnormal skin cells.Skin CarcinomaA skin cancer that is in tissues of the skin and develops from epithelial cells.Skin Carcinoma in SituA carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues.Skin LipomaA skin benign neoplasm that arises from fat cells.Skin MelanomaA skin cancer that is caused by melanocytes.Skin Nasal Cell Carcinoma with Sebaceous DifferentiationA basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin.Skin PapillomaA skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.Skin SarcomaA sarcoma that is in the skin.Skin Squamous Cell CarcinomaA skin carcinoma that is caused by squamous cells.Skin TagA reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops from areas of friction, or may be associated with HPV virus, or Croh Skull Base ChordomaA chordoma that is in the skull base.Slate PneumoconiosisA pneumoconiosis that is caused by exposure to slate dust.Sleep ApneaBreathing repeatedly stops and starts during sleep. Tracking your symptoms and connecting with others who understand can help you manage day to day.Sleep DisorderA disease of mental health that involves disruption of sleep patterns.Sleeping SicknessA trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, con Sleep ParalysisTemporary inability to move when falling asleep or waking.SleepwalkingWalking or performing activities while asleep.Small Bowel FibrosarcomaA fibrosarcoma of soft tissue and small intestinal sarcoma that is in the small bowel.Small Cell CarcinomaA carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.Small-Cell Carcinoma of the Ovary of Hypercalcemic TypeAn ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia.Small Cell SarcomaA sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.Small Fiber NeuropathyA neuropathy that solely or predominantly affects small myelinated A-delta (Aδ) fibers and unmyelinated C fibers resulting in sensory changes, autonomic dysfunction, or both. Common symptoms include burning, sharp and/or Small Intestinal SarcomaA sarcoma and malignant tumor of small intestine that is in the small intestine.Small Intestine AdenocarcinomaA small intestine carcinoma that arises from epithelial cells of glandular origin.Small Intestine CancerA rare cancer of the small intestine.Small Intestine Carcinoid Neuroendocrine TumorA neuroendocrine tumor that is caused by cells of the neuroendocrine system and that is located in the small intestine.Small Intestine CarcinomaA small intestine cancer that develops from epithelial cells and is in the small intestine.Small Intestine LeiomyomaA small intestine benign neoplasm that is in the small intestine.Small Intestine LeiomyosarcomaA small intestine sarcoma that affects the involuntary smooth muscles of the small intestines.SmallpoxA viral infectious disease that results in infection located in skin, is caused by Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact wit Smarca4-Deficient Sarcoma of ThoraxA thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and is caused by alterations in the switch/sucrose nonfermenting complex, also known SMARCB1-Deficient Renal Medullary CarcinomaA renal cell carcinoma that develops in the renal medulla.Smith-Magenis SyndromeA chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, periphe Smith-McCort DysplasiaA Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest.Smith-McCort Dysplasia 1A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and is caused by homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21.Smith-McCort Dysplasia 2A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that is caused by homozygous or compound heterozygous mutation in the RAB33B gene on chrom Smoldering MyelomaA multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells causes too much of a single type of monoclonal antibody.Snail AllergyA mollusc allergy triggered by snails.Sneddon SyndromeAn artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that is caused by compound heterozygous mutation in the CECR1 gene (Snijders Blok-Campeau SyndromeAn autosomal dominant intellectual developmental disorder characterized by global developmental delay with delayed speech acquisition, impaired intellectual development of variable severity, and hypotonia that is caused Snowflake Vitreoretinal DegenerationAn eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that is caused by heterozygo Social Anxiety DisorderIntense fear of being judged in social situations. Tracking your symptoms and connecting with others who understand can help you manage day to day.Social Emotional AgnosiaAn agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.Social PhobiaA phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people.Sodium Aurothiomalate AllergyA drug allergy that triggered by sodium aurothiomalate.Sodoku DiseaseA primary bacterial infectious disease that causes infection, is caused by Spirillum minus, which is transmitted by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted by bi Soft Tissue ChondromaA connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growt Soft Tissue SarcomaA connective tissue cancer that is caused by abnormally proliferating cells derived from embryonic mesoderm and starts in the soft tissues of the body (e.g. fat, muscle, nerves, blood vessels).Solid Adenocarcinoma with Mucin ProductionA lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells.Solitary Cyst of BreastA breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma.Solitary Fibrous Tumor/HemangiopericytomaA connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.Solitary Mastocytoma of the SkinA mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter.Solitary Median Maxillary Central IncisorA tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that is caused by heterozygous mutation in SHH on chromosom Somatic Symptom DisorderDistressing physical symptoms with excessive worry.Somatization DisorderA somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin.Somatoform DisorderA disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate.Sorsby'S Fundus DystrophyA hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that is caused by autosomal dominan SOST-Related Sclerosing Bone DysplasiaA hyperostosis that is caused by a mutation in the SOST gene which causes overgrowth of endosteal bone producing dense and wide bones throughout the body especially in skull.Sotos SyndromeA syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.Sotos Syndrome 1A Sotos syndrome that is caused by heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene.Sotos Syndrome 2A Sotos syndrome that is caused by heterozygous mutation in the NFIX gene on chromosome 19p13.Sotos Syndrome 3A Sotos syndrome that is caused by homozygous mutation in the APC2 gene on chromosome 19p13.3.SparganosisA parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutane Spasmodic DystoniaA focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.Spastic AtaxiaA hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.Spastic Ataxia 1A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, is caused by autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromos Spastic Ataxia 2A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, is caused by homozygous mutation in the KIF1C gene on chromosome 17p13.Spastic Ataxia 3A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, is caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 Spastic Ataxia 4A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, is caused by homozygous mutation in the MTPAP gene on chromosome 10p11.Spastic Ataxia 5A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, is caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11.Spastic Ataxia 7A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs.Spastic Ataxia 8A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that is caused by homozygous mutation in the NKX6-2 gene on chromosome 8q21.Spastic Cerebral PalsyA cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements.Spastic DiplegiaA spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.Spastic HemiplegiaA spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side, the arm and leg may not develop normally.SpasticityMuscle stiffness from nervous system damage.Spastic MonoplegiaA spastic cerebral palsy that affects only one limb.Spastic Paraplegia with DeafnessA hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life.Spastic Quadriplegic Cerebral PalsyA spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four Spastic Quadriplegic Cerebral Palsy 2A spastic quadriplegic cerebral palsy that is caused by deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele.Spastic Quadriplegic Cerebral Palsy 3A spastic quadriplegic cerebral palsy that is caused by homozygous mutation in the ADD3 gene on chromosome 10q24.Spastic Tetraplegia, Thin Corpus Callosum, and Progressive MicrocephalyAn autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development tha Specific Developmental DisorderA developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.Specific Language ImpairmentA language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.Specific PhobiaA phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations.Specific PhobiasIntense, irrational fear of specific objects or situations.Speech DisorderA communication disorder that involves difficulty with the act of speech production.Speech-Language Disorder-1A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that is caused by heterozygous mutation in FOXP2 on 7q31.1.Spermatogenic FailureA male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa.Spermatogenic Failure 1A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects.Spermatogenic Failure 10A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that is caused by mutation in t Spermatogenic Failure 100A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia resulting from multiple morphologic abnormalities of the sperm flagella that is caused by homozygous or compound heterozygous mutat Spermatogenic Failure 101A spermatogenic failure characterized by male infertility due to nonobstructive azoospermia that is caused by homozygous or compound heterozygous mutation in the ATG4D gene on chromosome 19p13.Spermatogenic Failure 102A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm in reduced concentration that are immotile due to multiple morphologic abnormalities of the flagella, including abs Spermatogenic Failure 103A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from meiotic arrest and that is caused by homozygous or compound heterozygous mutation in the MEI1 gene on chr Spermatogenic Failure 11A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that is caused by mutation in the KLHL10 gene on chr Spermatogenic Failure 12A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that is caused by heterozygous mutati Spermatogenic Failure 13A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that is caused by mutation in the TAF4B gene on chromosome 18q11.Spermatogenic Failure 14A spermatogenic failure that is characterized by male infertility due to azoospermia with sperm maturation arrest in the spermatid stage that is caused by mutation in the ZMYND15 gene on chromosome 17p13.Spermatogenic Failure 15A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that is caused by mutation in the SYCE1 gene on chromosome 10q26.Spermatogenic Failure 16A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that is caused by mutation in the SUN5 gene on chromosome 20q11.Spermatogenic Failure 17A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that is caused by mutation in the PLCZ1 gene on chromosome 12p12.Spermatogenic Failure 18A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that is caused by homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21.Spermatogenic Failure 19A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that is caused by mutation in the CFAP43 gene on chromosome 10q25.Spermatogenic Failure 2A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that is caused by homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31.Spermatogenic Failure 20A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that is caused by mutation in the CFAP44 gene on chromosome 3q13.Spermatogenic Failure 21A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that is caused by homozygous mutation in the BRDT gene on chromosome 1p22.Spermatogenic Failure 22A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that is caused by mutation in the MEIOB gene on chromosome 16p13.Spermatogenic Failure 23A spermatogenic failure that is characterized by autosomal recessive inheritance of nonobstructive azoospermia that is caused by mutation in the TEX14 gene on chromosome 17q23.Spermatogenic Failure 24A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that is caused by homozygous or compound heterozygous mutation in the CFAP69 g Spermatogenic Failure 25A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that is caused by homozygous or compound hete Spermatogenic Failure 26A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that is caused by homozygous or compound heterozygous mutation in the TSGA1 Spermatogenic Failure 27A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the fl Spermatogenic Failure 28A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that is caused by homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2.Spermatogenic Failure 29A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that is caused by homozygous or compound geterozygous mutati Spermatogenic Failure 3A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that is caused by heterozygous mutation in the SLC26A8 gene on chromosome 6p21.Spermatogenic Failure 30A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that is caused by homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33.Spermatogenic Failure 31A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that is caused by homozygous or compound heterozygous mutation in the PMFBP1 gene on chromoso Spermatogenic Failure 32A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that is caused by heterozygous mutation in the SOHLH1 gene on chromosome 9q3 Spermatogenic Failure 33A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that is caused by homozygous or compound heterozygous mutation in the WDR66 ge Spermatogenic Failure 34A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that is caused by homozygous or compound heterozygous mutation in the FSIP2 g Spermatogenic Failure 35A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that is caused by homozygous or compound heterozygous mutation in Spermatogenic Failure 36A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that is caused by heterozygous mutation in the PPP2R3C gene on chromos Spermatogenic Failure 37A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that is caused by homozygous or compound heterozygous mutation in the TTC21A gene on c Spermatogenic Failure 38A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that is caused by homozygous or compound heterozygous mutation in the ARMC2 Spermatogenic Failure 39A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that is caused by homozygous or compound heterozygous m Spermatogenic Failure 4A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that is caused by mutation in the SYCP3 gene on chromosome 12q23.Spermatogenic Failure 40A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that is caused by homozygous or compo Spermatogenic Failure 41A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that is caused by homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2.Spermatogenic Failure 42A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that is caused by homozygous or compound heterozygous m Spermatogenic Failure 43A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that is caused by homozygous or compound heterozygous mu Spermatogenic Failure 44A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that is caused by homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.Spermatogenic Failure 45A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that is cau Spermatogenic Failure 46A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that is cau Spermatogenic Failure 47A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that is caused by homozygous or compo Spermatogenic Failure 48A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that is caused by homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1.Spermatogenic Failure 49A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that is caused by homozygous or compound heterozygous mutation in Spermatogenic Failure 5A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that is caused by mutation in the AURKC gene on chromosome 19q13.Spermatogenic Failure 50A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that is caused by homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1.Spermatogenic Failure 51A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that is caused by homozygous or compound heterozygou Spermatogenic Failure 52A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that is caused by homozygous or compound heterozygous mutation in C14orf39 on chromosom Spermatogenic Failure 53A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that is caused by homozygous or compound heterozygous mutation in the A Spermatogenic Failure 54A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that is caused by homozygous or compound het Spermatogenic Failure 55A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that is caused by homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p1 Spermatogenic Failure 56A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that is caused by homozygous or compound heterozygous mutation in t Spermatogenic Failure 57A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that is caused by homozygous or compound heterozygous mutation in th Spermatogenic Failure 58A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that is caused by homozygous or compound heterozygous mutation in Spermatogenic Failure 59A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that is caused by homozygous or compound heterozygous mutation in the TERB2 gene on chromosome 15q21.1.Spermatogenic Failure 6A male infertility characterized by autosomal recessive inheritance of globozoospermia that is caused by mutation in the SPATA16 gene on chromosome 3q26.Spermatogenic Failure 60A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that is caused by homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1.Spermatogenic Failure 61A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that is caused by homozygous or compound heterozygous mut Spermatogenic Failure 62A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that is caused by homozygous or compound heterozygous mutation Spermatogenic Failure 63A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that is caused by homozygous or compound heterozygous mutation in the RPL10L gene o Spermatogenic Failure 64A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that is caused by homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome Spermatogenic Failure 65A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that is caused b Spermatogenic Failure 66A spermatogenic failure characterized by total globozoospermia that is caused by homozygous mutation in the ZPBP gene on chromosome 7p12.2.Spermatogenic Failure 67A spermatogenic failure characterized by globozoospermia that is caused by homozygous mutation in the CCDC62 gene on chromosome 12q24.31.Spermatogenic Failure 68A spermatogenic failure characterized by partial globozoospermia that is caused by homozygous mutation in the C2CD6 gene on chromosome 2q33.1.Spermatogenic Failure 69A spermatogenic failure characterized by partial globozoospermia that is caused by homozygous mutation in the GGN on chromosome 19q13.2.Spermatogenic Failure 7A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that is caused by mutation in the CATSPER1 g Spermatogenic Failure 70A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that is caused by homozygous mutation in the PDHA2 gene on chromosome 4q22.3.Spermatogenic Failure 71A spermatogenic failure characterized by nonobstructive azoospermia that is caused by homozygous mutation in the ZSWIM7 gene on chromosome 17p12.Spermatogenic Failure 72A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in lack of sperm motility, that is caused by homozygous mutation in the WDR19 gene on chromosome 4p14.Spermatogenic Failure 73A spermatogenic failure characterized by nonobstructive azoospermia due to meiotic arrest that is caused by homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13.33.Spermatogenic Failure 74A spermatogenic failure characterized by nonobstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage that is caused by homozygous mutation in the MSH5 gene on chromosome 6p21 Spermatogenic Failure 75A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that is caused by homozygous or compound heterozygous mutation in the SHOC1 gene on chromosom Spermatogenic Failure 76A spermatogenic failure characterized by oligoasthenoteratozoospermia that is caused by homozygous mutation in the CCDC34 gene on chromosome 11p14.1.Spermatogenic Failure 77A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that is caused by homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23.Spermatogenic Failure 78A spermatogenic failure characterized by sperm with abnormal acrosome structure due to a manchette assembly defect that is caused by homozygous mutation in the IQCN gene on chromosome 19p13.11.Spermatogenic Failure 79A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that is caused by homozygous mutation in the KCNU1 gene on chromosome 8p11.23.Spermatogenic Failure 8A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that is caused by heterozygous mutation in the NR5A1 gene on chromosome 9q33.Spermatogenic Failure 80A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in reduced or absent progressive sperm motility, that is caused by homozygous mutation in the DRC1 gene on chro Spermatogenic Failure 81A spermatogenic failure characterized by oligoasthenoteratozoospermia with acrosomal hypoplasia and detachment of the acrosome from the sperm head that is caused by homozygous or compound heterozygous mutation in the TEK Spermatogenic Failure 82A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella that is caused by homozygous mutation in the AKAP3 gene on chromosome 12p13.32.Spermatogenic Failure 83A spermatogenic failure characterized by asthenozoospermia and multiple flagella morphological defects due to loss in the inner dynein arms that is caused by homozygous mutation in the DNALI1 gene on chromosome 1p34.3.Spermatogenic Failure 84A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility, that is caused by homozygous or compound heterozygous mutation in the CFAP61 gene Spermatogenic Failure 85A spermatogenic failure characterized by globozoospermia and reduced progressive motility that is caused by homozygous mutation in the SPACA1 gene on chromosome 6q15.Spermatogenic Failure 86A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that is caused by homozygous or compound heterozygous mutation in the AC Spermatogenic Failure 87A spermatogenic failure characterized by total fertilization failure due to inability of mutant sperm to penetrate the zona pellucida that is caused by homozygous mutation in the ACR gene on chromosome 22q13.33.Spermatogenic Failure 88A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that is caused by homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33.Spermatogenic Failure 89A spermatogenic failure characterized by severely reduced progressive motility of sperm that is caused by homozygous or compound heterozygous mutation in the AK9 gene on chromosome 6q21.Spermatogenic Failure 9A male infertility characterized by round-headed spermatozoa lacking an acrosome and that is caused by autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14.Spermatogenic Failure 90A spermatogenic failure characterized by asthenozoospermia that is caused by homozygous or compound heterozygous mutation in the ARMC12 gene on chromosome 6p21.31.Spermatogenic Failure 91A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that is caused by homozygous or Spermatogenic Failure 92A spermatogenic failure characterized by asthenozoospermia that is caused by homozygous mutation in the LRRC23 gene on chromosome 12p13.31.Spermatogenic Failure 93A spermatogenic failure characterized by nonosbtructive azoospermia or multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that is caused by homozygous mutation in the Spermatogenic Failure 94A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that is caused by homozygous mutation in the CCDC146 gene on chromosome 7q Spermatogenic Failure 95A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that is caused by homozygous mutation in the CFAP57 gene on chromosome 1p3 Spermatogenic Failure 96A spermatogenic failure characterized by male infertility due to nonobstructive azoospermia with reduced numbers of spermatocytes and no spermatids seen in testicular tissue, resulting from apparent arrest of spermatogen Spermatogenic Failure 97A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm that are immotile due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and i Spermatogenic Failure 98A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella or nonobstructive azoospermia that is caused by homozygous or compound heterozygous mutation in the CFAP Spermatogenic Failure 99A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced sperm progressive motility, sperm with a thin midpiece, absence of the annulus, and disorganization of the mi Sphenoid SinusitisA sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head.Sphenoid Sinus Squamous Cell CarcinomaA squamous cell carcinoma that is in the sphenoid sinus.SphingolipidosisA lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.Spina BifidaA birth defect where the spine doesn't close completely.Spina Bifida OccultaA spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed.Spinal Bulbar Muscular AtrophyA rare inherited neuromuscular disorder.Spinal CancerA central nervous system cancer that is in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer).Spinal ChordomaA chordoma that arises from the spine.Spinal Cord Dermoid CystA dermoid cyst that is in the spinal cord.Spinal Cord EpendymomaA high grade ependymoma that is caused by cells linking the spinal cord central canal.Spinal Cord GliomaA spinal cancer that is located in the spinal cord and is caused by glial cells.Spinal Cord InjuryDamage to the spinal cord that affects movement and sensation.Spinal Cord LipomaA central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord.Spinal Cord LymphomaA spinal cancer that is in the spinal cord and arises from lymphocytes.Spinal DiseaseA bone disease that is in the spine.Spinal Ependymoma, MYCN-AmplifiedA spinal cord ependymoma that is characterized by MYCN amplification.Spinal Muscular AtrophyA genetic condition that weakens muscles and affects movement.Spinal Muscular Atrophy, Jokela TypeA spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that is caused by heterozygous mutation in the Spinal Muscular Atrophy Type 0A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.Spinal Muscular Atrophy with Lower Extremity PredominantA spinal muscular atrophy that is caused by autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles.Spinal Muscular Atrophy with Progressive Myoclonic EpilepsyA motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that is caused by homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22.Spinal NeurofibromatosisA neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots.Spinal PolioA paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, is caused by Human poliovirus 1, is caused by Human poliovirus 2, or is caused by Human poliovirus 3, which are transmitted b Spinal StenosisNarrowing of the spinal canal that compresses the spinal cord or nerves.Spindle Cell Intraocular MelanomaAn ocular malanoma that arises from melanocytes in the uveal tract that causes the formation of spindle-shaped cells.Spindle Cell LipomaA lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.Spindle Cell OncocytomaA posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.Spindle Cell RhabdomyosarcomaA rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft Spindle Cell SarcomaA sarcoma that causes cells that are spindle-shaped. They are usually resistant to radiation therapy.Spindle Cell Variant Squamous Cell Breast CarcinomaA breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma.Spindle Epithelial Tumor with Thymus-Like Differentiation TumorA thyroid gland carcinoma that is caused by compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands.Spinocerebellar AtaxiaA group of inherited disorders affecting coordination.Spinocerebellar Ataxia 1An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, is caused by the expanded (CAG)n trinucleotide repeat of Spinocerebellar Ataxia 10An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, is caused by mutation in the ATXN10 gene.Spinocerebellar Ataxia 11An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, is caused by mutation in the TTBK2 gene.Spinocerebellar Ataxia 12An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, is caused by CAG expansion of the PPP2R2B gene.Spinocerebellar Ataxia 13An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and is caused by mutation in the KCNC3 gene.Spinocerebellar Ataxia 14An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, is caused by mutation in the PRKCG gene.Spinocerebellar Ataxia 15An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, is caused by mutation in the ITPR1 gene.Spinocerebellar Ataxia 17An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, is caused by CAG repeat expansion in the TBP gene.Spinocerebellar Ataxia 18An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, is caused by mutation on chromosome 7q22-q23.Spinocerebellar Ataxia 19/22An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.Spinocerebellar Ataxia 2An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, is caused by mutation in the ATXN2 gene.Spinocerebellar Ataxia 20An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.Spinocerebellar Ataxia 21An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity.Spinocerebellar Ataxia 23An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, is caused by mutation in the PDYN gene.Spinocerebellar Ataxia 25An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, is caused by repeat CAG expansion on chromosome 2p15-p21.Spinocerebellar Ataxia 26An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, is caused by mutation in the EEF2 gene.Spinocerebellar Ataxia 27AAn autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus and is caused by heterozygous mutation Spinocerebellar Ataxia 27BAn autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and is caused by heterozygous GAA(n) trinucleotid Spinocerebellar Ataxia 28An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and is caused by mutation in the AFG3L2 gene.Spinocerebellar Ataxia 29An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and is caused by mutation in the ITPR1 gene.Spinocerebellar Ataxia 30An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, is caused by mutation in the ODZ3 gene.Spinocerebellar Ataxia 31An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, is caused by repeat expansion mutation in the BEAN1 gene.Spinocerebellar Ataxia 34An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, is caused by mutation in the ELOVL4 gene.Spinocerebellar Ataxia 35An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, is caused by mutation in the TGM6 gene.Spinocerebellar Ataxia 36An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, is caused by mutation in the NOP56 gene.Spinocerebellar Ataxia 37An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and is caused by mutation to the DAB1 gene.Spinocerebellar Ataxia 38An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and is caused by mutation to the ELOVL5 gene.Spinocerebellar Ataxia 4An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that is caused by heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromoso Spinocerebellar Ataxia 40An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, is caused by mutation in the CCDC88C gene.Spinocerebellar Ataxia 44An autosomal dominant cerebellar ataxia that is caused by heterozygous mutation in the GRM1 gene on chromosome 6q24.Spinocerebellar Ataxia 45An autosomal dominant cerebellar ataxia that is caused by heterozygous mutation in the FAT2 gene on chromosome 5q33.Spinocerebellar Ataxia 46An autosomal dominant cerebellar ataxia that is caused by heterozygous mutation in the PLD3 gene on chromosome 19q13.Spinocerebellar Ataxia 5An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and is caused by mutation in the SPTBN2 gene.Spinocerebellar Ataxia 6An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, is caused by mutation in the CACNA1A gene.Spinocerebellar Ataxia 7An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, is caused by mutation in the ATXN7 gene.Spinocerebellar Ataxia 8An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, is caused by mutation in the ATXN80S gene.Spinocerebellar Ataxia with Axonal Neuropathy 1A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that is caused by homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.Spinocerebellar Ataxia with Axonal Neuropathy 2An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that is cause Spitzoid MelanomaA skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia.Spleen AngiosarcomaAn angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that causes a nonhematolymphoid malignant neoplasm of the spleen.Spleen CancerA lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen.Splenic Manifestation of LeukemiaA leukemia that is in the spleen. It causes an enlargement of the leukemia.Splenic Marginal Zone LymphomaA marginal zone B-cell lymphocyte in the spleen comprised of B-cells in place of white pulp.Splenic TuberculosisAn abdominal tuberculosis that causes formation of granulomas or abscesses in spleen.Split Hand-Foot MalformationA bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals Split Hand-Foot Malformation 1A split-hand/foot malformation that is caused by contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements Split Hand-Foot Malformation 1 with Sensorineural Hearing LossA split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that is caused by homozygous mutation in the DLX5 gene on chromosome 7q21.Split Hand-Foot Malformation 2A split-hand/foot malformation that is caused by variation in the chromosome region Xq26.Split Hand-Foot Malformation 3A split-hand/foot malformation that is caused by a contiguous gene duplication syndrome on chromosome 10q24.Split Hand-Foot Malformation 4A split-hand/foot malformation that is caused by heterozygous mutation in the TP63 gene on chromosome 3q28.Split Hand-Foot Malformation 5A split-hand/foot malformation that is caused by deletions in the chromosome region 2q31.Split Hand-Foot Malformation 6A split-hand/foot malformation that is caused by homozygous mutation in the WNT10B gene on chromosome 12q13.SPOAN SyndromeA neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that is caused by homozygous mutation in the KLC2 gene on chromosome 11 Spondylocarpotarsal Synostosis SyndromeA bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis,Spondylocostal DysostosisA dysostosis that causes abnormal development in vertebrae or in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.Spondylocostal Dysostosis 1A spondylocostal dysostosis that is caused by homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2.Spondylocostal Dysostosis 2A spondylocostal dysostosis that is caused by homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1.Spondylocostal Dysostosis 3A spondylocostal dysostosis that is caused by homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3.Spondylocostal Dysostosis 4A spondylocostal dysostosis that is caused by heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1.Spondylocostal Dysostosis 5A spondylocostal dysostosis that is caused by heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2.Spondylocostal Dysostosis 6A spondylocostal dysostosis that is caused by homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2.Spondylocostal Dysostosis 7A spondylocostal dysostosis characterized by severe rib and vertebral malformations, which may result in lethal respiratory compromise that is caused by homozygous mutation in the DMRT2 gene on chromosome 9p24.Spondyloepimetaphyseal DysplasiaAn osteochondrodysplasia that causes abnormalities of bone growth in vertebral column, in epiphysis, in metaphysis.Spondyloepimetaphyseal Dysplasia, Genevieve-TypeA spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyse Spondyloepimetaphyseal Dysplasia, Li-Shao-Li TypeA spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature ost Spondyloepimetaphyseal Dysplasia, Missouri TypeA spondyloepimetaphyseal dysplasia that is caused by mutations in the MMP13 gene which causes a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.Spondyloepimetaphyseal Dysplasia, Pakistani TypeA spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal int Spondyloepimetaphyseal Dysplasia, Sponastrime TypeA spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that is caused by autosomal recessive inheritance.Spondyloepimetaphyseal Dysplasia, Strudwick TypeA spondyloepimetaphyseal dysplasia that is caused by mutations in the COL2A1 gene which causes short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clu Spondyloepimetaphyseal Dysplasia with Joint LaxityA spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.Spondyloepiphyseal DysplasiaAn osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive SpeechA spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.Spondyloepiphyseal Dysplasia CongenitaA spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that is caused by heterozygous mutation in the COL2A1 gene on chromosome 12 Spondyloepiphyseal Dysplasia Kimberley TypeA spondyloepiphyseal dysplasia that is caused by heterozygous mutation in the ACAN gene on chromosome 15q26.1.Spondyloepiphyseal Dysplasia Kondo-Fu TypeA spondyloepiphyseal dysplasia that is caused by homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1.Spondyloepiphyseal Dysplasia Maroteaux TypeAn osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that is cause Spondyloepiphyseal Dysplasia Nishimura TypeA spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of th Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Intellectual Developmental Disorder, and LA syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that is caused by homozygous or compoun Spondyloepiphyseal Dysplasia Stanescu TypeA spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphy Spondyloepiphyseal Dysplasia TardaA spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth.Spondyloepiphyseal Dysplasia Tarda with Characteristic FaciesA spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay.Spondyloepiphyseal Dysplasia Tarda with Impaired Intellectual DevelopmentA spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability.Spondyloepiphyseal Dysplasia with Congenital Joint DislocationsA spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Impaired InA syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability.Spondyloepiphyseal Dysplasia with Punctate Corneal DystrophyA spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma.SpondylolisthesisA bone structure disease that is caused by displacement in set of vertebrae.SpondylolysisA bone structure disease that involves a defect in lumbar vertebral column.Spondylometaepiphyseal Dysplasia, Short Limb-Hand TypeA spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the Spondylometaphyseal DysplasiaAn osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions.Spondylometaphyseal Dysplasia Algerian TypeA spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that is caused by heterozygous mutation in the COL2A1 gene on chromosome 12q13.Spondylometaphyseal Dysplasia Corner Fracture TypeA spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that is caused by heterozygous mutation in FN1 on Spondylometaphyseal Dysplasia East African TypeA spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies.Spondylometaphyseal Dysplasia Kozlowski TypeA spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that is caused by heterozygous mutation in the TRPV4 gene on chr Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike TypeA spondylometaphyseal dysplasia that is caused by homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3.Spondylometaphyseal Dysplasia Sedaghatian TypeA spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorr Spondylometaphyseal Dysplasia Type A4A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.Spondylometaphyseal Dysplasia with Bowed Forearms and Facial DysmorphismA spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia.Spondylometaphyseal Dysplasia with Cone-Rod DystrophyA spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaph Spondylometaphyseal Dysplasia with Corneal DystrophyA spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that is caused by homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1.Spondyloperipheral DysplasiaAn osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that is caused by heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.SpondylosisA bone structure disease that involves degeneration between vertebra in vertebral column.Spontaneous Tension PneumothoraxA pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath.Sporadic Amyotrophic Lateral SclerosisAn amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS.Sporadic Breast CancerA breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.SporotrichosisA primary systemic mycosis that causes a systemic fungal infection, is caused by Sporothrix schenckii in animals and humans and causes the formation of red papule at the site of inoculation.Spotted FeverA primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, is caused by Rickettsia, which is transmitted by ticks and mites. The infect Sprains and StrainsInjuries to ligaments or muscles from overstretching.Squamous Cell Bile Duct CarcinomaA squamous cell carcinoma that is in the bile duct.Squamous Cell CarcinomaA common skin cancer arising from flat skin cells.Squamous Cell NeoplasmA cell type benign neoplasm composed of epithelial cells in the ectodermal or endodermal cells linking body cavities.ST2 Diffuse Large B-Cell LymphomaA diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or non STAD SyndromeA syndrome characterized by a skeletal dysplasia consisting of advanced bone maturation, short and dysplastic bones, and disproportionate body measurements; facial dysmorphisms and dental anomalies; and neurodevelopmenta StaphyloenterotoxemiaA primary bacterial infectious disease that causes infection in intestine caused by eating food contaminated with enterotoxins produced by bacteria, is caused by Staphylococcus aureus. The infection causes diarrhea, caus Stargardt DiseaseAn age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.Stargardt Disease 1A stargardt disease that is characterized by juvenile-onset macular dystrophy with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of y Stargardt Disease 3A stargardt disease that is characterized by macular pigmentary changes and yellow flecks and macular retinal pigment epithelium defects and is caused by heterozygous mutation in the ELOVL4 gene on chromosome 6q14.Stargardt Disease 4A stargardt disease that is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina and is Stargardt Disease 5A stargardt disease that is characterized by onset of macular dystrophy in the fifth decade of life, with mildly reduced visual acuity and normal amplitudes on electroretinography and is caused by homozygous mutation in Status AsthmaticusAn acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant.Status EpilepticusA prolonged or repeated seizure that is a medical emergency.Steatocystoma MultiplexA sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that is caused by heterozygous mutation in the KRT17 gene on chromosome 17q21.2.Steatotic Liver DiseaseA lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.Stereotypic Movement DisorderA specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking.Sternum CancerA bone cancer and neoplasm of chest wall and sternal disorder that is in the sternum.Steroid-Induced GlaucomaA glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and causes progressive decreased vision, visu Steroid Inherited Metabolic DisorderA lipid metabolism disorder that involves defects in steroid metabolism.Stevens-Johnson SyndromeA skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of Stickler SyndromeA syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.Stickler Syndrome 1A Stickler syndrome that is caused by heterozygous mutation in the COL2A1 gene on chromosome 12q13.Stickler Syndrome 2A Stickler syndrome that is caused by heterozygous mutation in the COL11A1 gene on chromosome 1p21.Stiff Person SyndromeA rare neurological disorder causing muscle stiffness.Stiff Skin SyndromeA skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21.1.Still's DiseaseA rare inflammatory arthritis with fevers and rash.STING-Associated Vasculopathy with Onset in InfancyAn autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in St. Louis EncephalitisA viral infectious disease that causes inflammation in brain, is caused by St. Louis encephalitis virus (Orthoflavivirus louisense), which is transmitted by Culex mosquitoes. The infection causes headache, causes high fe Stocco Dos Santos Type X-Linked Intellectual DisabilityA syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that is c Stolerman Neurodevelopmental SyndromeA syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including auti Stomach CancerCancer that starts in the stomach. Tracking your symptoms and connecting with others who understand can help you manage day to day.Stomach CarcinomaA stomach cancer that is in the stomach.Stomach Carcinoma in SituAn in situ carcinoma that is in the stomach.Stomach DiseaseA gastrointestinal system disease that is in the stomach.StomatitisA mouth disease that is characterized by inflammation of the mouth and lips.Stormorken SyndromeA blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It is caused by heterozygous mutation in the STM1 gene on Strabismic AmblyopiaAn amblyopia that is characterized by strabismus or eye misalignment. The brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye.StrabismusMisaligned eyes, also called crossed eyes.Strep ThroatA bacterial throat infection causing pain and fever.Streptococcal MeningitisA bacterial meningitis that is caused by streptococcal bacteria.Streptococcus PneumoniaA bacterial pneumonia is caused by Streptococcus pneumoniae.Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and SeizuresA neurodegenerative disease characterized by variable ataxia and seizures, is caused by homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and causes seizures, muscle weakness, giat ataxia, impaired speech, hear Striatal Degeneration 2A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that is caused by heterozygous mutation in the PDE10A gene on chromosome 6q27.Striated Muscle Rhabdoid TumorA muscle cancer that is in striated muscle and is caused by rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm.StrokeA sudden interruption of blood flow to part of the brain.Stroke RecoveryRecovery and support after a stroke. Tracking your symptoms and connecting with others who understand can help you manage day to day.Stromal DystrophyA corneal dystrophy that affects the corneal stroma.Stromme SyndromeA primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and is caused by compound heterozygo StrongyloidiasisA parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.Struma OvariiAn ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue.Sturge-Weber SyndromeA neurological disorder with a facial birthmark.StutteringAn articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.StyeA painful lump on the eyelid from an infected gland.Subacute LeukemiaA leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.Subacute Sclerosing PanencephalitisA viral encephalitis that is caused by persistent central nervous system infection of the wild-type measles virus (Morbillivirus hominis) characterized by onset of personality or behavioral changes and intellectual deter Subarachnoid HemorrhageBleeding in the space around the brain.Subcortical Band HeterotopiaA congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of Subcutaneous MycosisA fungal infectious disease that causes infection in skin or in subcutaneous tissue, is caused by Fungi, which penetrate the dermis or even deeper during or after a skin trauma.Subcutaneous Panniculitis-Like T-Cell LymphomaA primary cutaneous T-cell non-Hodgkin lymphoma characterized by infiltration of subcutaneous tissue by neoplastic alpha-beta cytotoxic T cells mimicking panniculitis. Homozygous or compound heterozygous mutation in the Subdural EmpyemaA central nervous system disease that is characterized by the collection or gathering of pus within the subdural space.Subdural HematomaBlood collecting between the brain and its outer covering.Subepithelial Mucinous Corneal DystrophyAn epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life.Subglottis Benign NeoplasmA laryngeal benign neoplasm that is in the subglottic area of the larynx.Subjective Cognitive DeclineA cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints.Subleukemic LeukemiaA leukemia that is characterized by the presence of abnormal white blood cells in peripheral blood, but in which the total number of white blood cells is normal.Sublingual Gland Adenoid Cystic CarcinomaA sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.Sublingual Gland CancerA salivary gland cancer that is in the sublingual gland.Submucous Uterine FibroidAn uterine fibroid that is located adjacent to the lining of the uterus.Subserous Uterine FibroidAn uterine fibroid that is located adjacent to the outside of the uterus.Substance AbuseA substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.Substance DependenceA substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance.Substance-Related DisorderA disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning.Substance Use DisorderDifficulty controlling the use of alcohol or drugs. Tracking your symptoms and connecting with others who understand can help you manage day to day.Subvalvular Aortic StenosisAn aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction.Succinic Semialdehyde Dehydrogenase DeficiencyA gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.Succinylcholine AllergyA drug allergy that triggered by succinylcholine.Sudden Infant Death SyndromeA syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.Sugarman BrachydactylyA brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position.Sulfamethoxazole AllergyA drug allergy that triggered by sulfamethoxazole.Sulfasalazine AllergyA drug allergy that triggered by sulfasalazine.Sulfonamide AllergyA drug allergy that triggered by sulfonamide.Superficial MycosisA fungal infectious disease that causes infection of the outermost layer in skin or in hair shaft, is caused by Fungi. No living tissue is invaded and there is no cellular response from the host.Superficial Urinary Bladder CancerA carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area.Superior Mesenteric Artery SyndromeA duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery.Superior Semicircular Canal DehiscenceAn inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus.Superior Vena Cava LeiomyosarcomaA leiomyosarcoma that is in the superior vena cava.Supine Hypotensive SyndromeA vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compr Suppurative Otitis MediaA otitis media which involves inflammation of the middle ear with infected effusion containing pus.Suppurative UveitisA uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and causes pain, blurry vision, and eye redness. Suppura Supratentorial CancerA brain cancer that is located in the supratentorial region.Supratentorial EpendymomaA high grade ependymoma that is located within the supratentorial brain.Supratentorial Ependymoma, YAP1 Fusion–positiveA supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.Supratentorial Ependymoma, ZFTA Fusion–positiveA suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.Supratentorial MeningiomaA meningioma that affects the supratentorial brain.Supravalvular Aortic StenosisAn aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.Suprofen AllergyA drug allergy that triggered by suprofen.Sveinsson Chorioretinal AtrophyAn eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that is caused by heterozygous mutation in TEAD1 on 11p15.3.Sweat Gland DiseaseA skin disease in the sweat glands.Sweeney-Cox SyndromeA syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and is caused by h Sweet SyndromeA skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions.Swine InfluenzaAn influenza that causes infection in respiratory tract of pigs and humans, is caused by Influenza C virus (Gammainfluenzavirus influenzae), or is caused by Influenza A virus (Alphainfluenzavirus influenzae) including su Sympathetic OphthalmiaA panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, causes blurry vision, watering, pain, and photophobia.SyndactylyA synostosis that causes the fusion of two or more digits.Syndactyly-Telecanthus-Anogenital and Renal Malformations SyndromeA syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that is caused by heterozygous mutation in the FAM58A gene on chromosome Xq28.Syndactyly Type 1A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that is caused by heterozygous duplication of a region of chromosome 2q34-q36.Syndactyly Type 3A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that is caused by heterozygous mutation in the GJA1 gene on chromosome 6q22.31.Syndactyly Type 4A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that is caused by heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3.Syndactyly Type 5A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that is caused by heterozygous mutat Syndactyly Type 8A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that is caused by hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1.Syndromic Intellectual DisabilityAn intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.Syndromic MicrophthalmiaA microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body.Syndromic Microphthalmia 1A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that is caused by mutation in the NAA10 gene on chromosome Xq28.Syndromic Microphthalmia 10A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability.Syndromic Microphthalmia 11A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that is caused by homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3.Syndromic Microphthalmia 12A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that is caused by compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2.Syndromic Microphthalmia 13A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that is caused by mutation in the HMGB3 gene on chromosome Xq28.Syndromic Microphthalmia 14A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that is caused by heterozygous or homozygous mutation in the MAB21L2 gene o Syndromic Microphthalmia 16An isolated microphthalmia that is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses,Syndromic Microphthalmia 2A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart de Syndromic Microphthalmia 3A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that is caused by heterozygous mutation in the SOX2 gene on chromosome 3q26.33.Syndromic Microphthalmia 5A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that is caused by heterozygous mutation in the OTX2 gene on chromosome 14q22.3.Syndromic Microphthalmia 6A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that is caused by heterozygous mutation in the BMP4 Syndromic Microphthalmia 8A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that is caused by mutation in a region of chromosome 6q21.Syndromic Microphthalmia 9A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that is caused by homozygous or compound heterozygous mutatio Syndromic X-Linked Intellectual Developmental Disorder Bain TypeA syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that Syndromic X-Linked Intellectual DisabilityA syndromic intellectual disability characterized by an X-linked inheritance pattern.Syndromic X-Linked Intellectual Disability 12A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that is caused by variation in the chromosome region Xp1 Syndromic X-Linked Intellectual Disability 14A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus Syndromic X-Linked Intellectual Disability 17A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or ani Syndromic X-Linked Intellectual Disability 34A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thic Syndromic X-Linked Intellectual Disability 5A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in Syndromic X-Linked Intellectual Disability 7A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that is caused by variation in the chromosome region Xp11.3-q22.Syndromic X-Linked Intellectual Disability 94A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic Syndromic X-Linked Intellectual Disability Abidi TypeA syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small Syndromic X-Linked Intellectual Disability Cabezas TypeA syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperex Syndromic X-Linked Intellectual Disability Chudley-Schwartz TypeA syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness th Syndromic X-Linked Intellectual Disability Claes-Jensen TypeA syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epil Syndromic X-Linked Intellectual Disability Hedera TypeA syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that is caused by mutation in the ATP6AP2 gene on chromosome Xp11.Syndromic X-Linked Intellectual Disability Lubs TypeA syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive Syndromic X-Linked Intellectual Disability Najm TypeA syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that is caused by heterozygous mutation or deletion in the CASK gene on ch Syndromic X-Linked Intellectual Disability Nascimento TypeA syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears,Syndromic X-Linked Intellectual Disability Pilorge TypeA syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that Syndromic X-Linked Intellectual Disability Raymond TypeA syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that is caused by mutation in the ZDHHC9 gene on chromosome Xq26.1.Syndromic X-Linked Intellectual Disability Shashi TypeA syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that is caused by mutation in the RBMX gene on chromosome Xq26.Syndromic X-Linked Intellectual Disability Shrimpton TypeA syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that is caused by variation in the chromosomal region Xq12-q21.31.Syndromic X-Linked Intellectual Disability Siderius TypeA syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that is Syndromic X-Linked Intellectual Disability Snyder TypeA syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, n Syndromic X-Linked Intellectual Disability Turner TypeA syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that is Syndromic X-Linked Intellectual Disability Type 10A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that is caused by mutation in the HSD17B10 gene on chromosome Xp11.22.Syndromic X-Linked Intellectual Disorder Lujan-Fryns-TypeA syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that is caused by hemizygous mutation in the MED12 gene on chromoso Syndromic X-Linked Mental Retardation 35A syndromic X-linked intellectual disability that is caused by mutation in the RPL10 gene on chromosome Xq28.Syndromic X-Linked Mental Retardation Hough TypeA syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that is caused by hemizygous or heterozygous mut SynostosisA dysostosis that causes abnormal fusing of adjacent bones.Synovial SarcomaA synovium cancer which develops in the synovial membrane of the joints.SynovitisA connective tissue disease that causes inflammation in synovial membrane that lines a synovial joint which causes pain and swelling.SynpolydactylyA syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene.SynucleinopathyA neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.SyphilisA bacterial sexually transmitted infection with staged symptoms.Syphilitic EncephalitisAn encephalitis that is caused by central neural system infection by Treponema pallidum.Syphilitic MeningitisA bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord.Systemic Epstein-Barr Virus Positive T-Cell Lymphoma of ChildhoodA childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood.Systemic Juvenile Rheumatoid ArthritisA rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of in joint.Systemic Lupus ErythematosusAn autoimmune disease that can affect many organs.Systemic MycosisA fungal infectious disease that causes infection of internal organs and tissues in human body, is caused by Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread th Systemic Primary Carnitine Deficiency DiseaseAn amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.Systemic SclerodermaA scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.Systemic SclerosisHardening and tightening of skin and internal organs.

Don't see your condition? Join the waitlist - new rooms open in waves.

Deeply HealthYour community, whatever the condition.

Browse all communities