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Disease	Synonyms	Description	Articles	Phenotypes
spermatogenic failure 5	SPGF5; infertility associated with multitailed spe.. [+] SPGF5; infertility associated with multitailed spermatozoa and excessive DNA; male infertility with large-headed, multiflagellar, polyploid spermatozoa; male infertility due to macrozoospermia; macrocephalic sperm head syndrome; Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid [-]	A spermatogenic failure that is characterized by a..[+] A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. [-]
spermatogenic failure 16	SPGF16; acephalic spermatozoa syndrome	A male infertility due to acephalic spermatozoa th..[+] A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. [-]
spermatogenic failure 1	SPGF1; oligochiasmatic infertility; oligosynaptic .. [+] SPGF1; oligochiasmatic infertility; oligosynaptic infertility [-]	A spermatogenic failure that is characterized by a..[+] A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. [-]
systemic Epstein-Barr virus positive T-cell lymphoma of childhood	systemic EBV-positive T-cell lymphoma of childhood.. [+] systemic EBV-positive T-cell lymphoma of childhood; EBV-positive T-cell lymphoproliferative disorder of childhood [-]	A childhood lymphoma that is characterized by mono..[+] A 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. [-]
spinal muscular atrophy with lower extremity predominant	spinal muscular atrophy with lower extremity predo.. [+] spinal muscular atrophy with lower extremity predominance [-]	A spinal muscular atrophy that has_material_basis_..[+] A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles. [-]
spinal muscular atrophy with lower extremity predominant 2A	spinal muscular atrophy with lower extremity predo.. [+] spinal muscular atrophy with lower extremity predominance 2A [-]	A spinal muscular atrophy with lower extremity pre..[+] A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. [-]
spinal muscular atrophy with lower extremity predominante 2B		A spinal muscular atrophy with lower extremity pre..[+] A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. [-]
spinal muscular atrophy with lower extremity predominant 1	spinal muscular atrophy with lower extremity predo.. [+] spinal muscular atrophy with lower extremity predominance 1 [-]	A spinal muscular atrophy with lower extremity pre..[+] A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. [-]
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures	CONDSIAS	A neurodegenerative disease characterized by varia..[+] A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy. [-]
syndromic X-linked intellectual disability Pilorge type	MRXSP	A syndromic X-linked intellectual disability chara..[+] A 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 has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22. [-]
spinocerebellar ataxia with axonal neuropathy type 3	spinocerebellar ataxia with axonal neuropathy 3; S.. [+] spinocerebellar ataxia with axonal neuropathy 3; SCAN3; autosomal recessive spinocerebellar ataxia with axonal neuropathy 3 [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. [-]
SMARCB1-deficient renal medullary carcinoma	kidney medullary carcinoma; medullary carcinoma of.. [+] kidney medullary carcinoma; medullary carcinoma of the kidney; medullary renal cell carcinoma; RMC; renal medullary carcinoma [-]	A renal cell carcinoma that develops in the renal ..[+] A renal cell carcinoma that develops in the renal medulla. [-]
schwannomatosis 1	SMARCB1-related schwannomatosis; SWN1; neurofibrom.. [+] SWN1; SMARCB1-related schwannomatosis; neurofibromatosis 3 [-]	A schwannomatosis that has_material_basis_in germl..[+] A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. [-]
schwannomatosis 2	SWN2; LZTR1-related schwannomatosis; neurofibromat.. [+] SWN2; LZTR1-related schwannomatosis; neurofibromatosis 3 [-]	A schwannomatosis that has_material_basis_in germl..[+] A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2. [-]
spinal neurofibromatosis	SNF; familial spinal neurofibromatosis; FNSF	A neurofibromatosis 1 characterized by bilateral n..[+] A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots. [-]
Schinzel Giedion syndrome	Schinzel-Giedion midface retraction syndrome; SGS; .. [+] SGS; Schinzel-Giedion midface retraction syndrome [-]	An ectodermal dysplasia characterized by distincti..[+] An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. [-]
Sifrim-Hitz-Weiss syndrome	SIHIWES; SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANO.. [+] SIHIWES; SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME; CHD4 Neurodevelopmental Disorder; CHD4-related neurodevelopmental disorder; CHD4-related neurodevelopmental syndrome [-]	An autosomal dominant intellectual developmental d..[+] An 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 and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31. [-]
spina bifida		A neural tube defect that is characterized by inco..[+] A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development. [-]	5 articles	8 matches
Schmid metaphyseal chondrodysplasia	Schmid type metaphyseal dysplasia; Japanese type s.. [+] Schmid type metaphyseal dysplasia; Japanese type spondylometaphyseal dysplasia [-]	A metaphyseal dysplasia that results_in dwarfism a..[+] A metaphyseal dysplasia that results_in dwarfism and bowed legs. [-]
spondyloepimetaphyseal dysplasia		An osteochondrodysplasia that results_in abnormali..[+] An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. [-]
spondyloepimetaphyseal dysplasia, Strudwick type		A spondyloepimetaphyseal dysplasia that has_materi..[+] A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). [-]
spondyloepimetaphyseal dysplasia, Missouri type		A spondyloepimetaphyseal dysplasia that has_materi..[+] A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. [-]
SOST-related sclerosing bone dysplasia	van Buchem disease	A hyperostosis that has_material_basis_in a mutati..[+] A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. [-]
Stickler syndrome		A syndrome that is characterized by a distinctive ..[+] A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. [-]
spina bifida occulta		A spina bifida that is characterized by minor spli..[+] A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed. [-]
Sengers syndrome	mitochondrial DNA depletion syndrome 10; mitochond.. [+] mitochondrial DNA depletion syndrome 10; mitochondrial DNA depletion syndrome 10 (cardiomyopathic type) [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. [-]
short chain acyl-CoA dehydrogenase deficiency		A lipid metabolism disorder that is characterized ..[+] A 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. [-]
superior semicircular canal dehiscence	superior semicircular canal dehiscence syndrome; s.. [+] superior semicircular canal dehiscence syndrome; superior canal syndrome; superior canal dehiscence; canal dehiscence syndrome; minorâ€™s syndrome; third mobile window syndrome [-]	An inner ear disease characterized by dehiscence i..[+] An 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. [-]
schizophrenia 19		A schizophrenia that has_material_basis_in heteroz..[+] A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11. [-]
spinocerebellar ataxia 45		An autosomal dominant cerebellar ataxia that has_m..[+] An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. [-]
short-rib thoracic dysplasia 18 with polydactyly		An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. [-]
short-rib thoracic dysplasia 19 with or without polydactyly		An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. [-]
Simpson-Golabi-Behmel syndrome type 2		A syndrome that has_material_basis_in mutation in ..[+] A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. [-]
Smarca4-deficient sarcoma of thorax	SMARCA4-DTS	A thoracic cancer that is characterized by poorly ..[+] A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). [-]
spondyloepimetaphyseal dysplasia, Genevieve-type		A spondyloepimetaphyseal dysplasia that is charact..[+] A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. [-]
severe congenital neutropenia 1		A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. [-]
syndromic microphthalmia		A microphthalmia that occurs as part of a syndrome..[+] A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body. [-]	1 articles	14 matches
spinal muscular atrophy type 0	very severe spinal muscular atrophy	A childhood spinal muscular atrophy that is eviden..[+] A 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. [-]
Stickler syndrome 2		A Stickler syndrome that has_material_basis_in het..[+] A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. [-]
Stickler syndrome 1		A Stickler syndrome that has_material_basis_in het..[+] A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. [-]
Sweet syndrome	Sweet's syndrome; Acute Febrile Neutrophilic Derma.. [+] Sweet's syndrome; Acute Febrile Neutrophilic Dermatosis [-]	A skin disease that is characterized by sudden ons..[+] A 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. [-]
sinonasal undifferentiated carcinoma		A nasal cavity carcinoma that arises from the sino..[+] A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. [-]
supratentorial meningioma		A meningioma that affects the supratentorial brain..[+] A meningioma that affects the supratentorial brain. [-]
spinal ependymoma, MYCN		A spinal cord ependymoma that is characterized by ..[+] A spinal cord ependymoma that is characterized by MYCN amplification. [-]
supratentorial ependymoma		A high grade ependymoma that is located within the..[+] A high grade ependymoma that is located within the supratentorial brain. [-]
solitary fibrous tumor/hemangiopericytoma		A connective tissue cancer that is characterized a..[+] A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. [-]
sporatic amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that is character..[+] An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS. [-]
serum amyloid A amyloidosis	secondary amyloidosis; AA amyloidosis; Apo serum a.. [+] secondary amyloidosis; AA amyloidosis; Apo serum amyloid A amyloidosis; inflammation AA amyloidosis [-]	An amyloidosis that is characterized by sustained ..[+] An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. [-]
syndromic X-linked intellectual disorder Lujan-Fryns-type		A syndromic X-linked intellectual disability that ..[+] A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. [-]
severe COVID-19		A COVID-19 that is characterized by any of (1) Oxy..[+] A 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 children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs. [-]

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