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Disease	Synonyms	Description
syndromic X-linked intellectual disability 94	syndromic X-linked mental retardation Wu type; syn.. [+] syndromic X-linked mental retardation Wu type; syndromic X-linked mental retardation 29; syndromic X-linked intellectual disability due to GRIA3 anomalies; mental retardation, X-linked 94; MRX94; MRXS29 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. [-]
syndromic X-linked intellectual disability Raymond type	mental retardation, X-linked syndromic, Raymond ty.. [+] mental retardation, X-linked syndromic, Raymond type; MRXSR [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. [-]
syndromic X-linked intellectual disability Shashi type	syndromic X-linked intellectual disability type 11.. [+] syndromic X-linked intellectual disability type 11; SMRXS; Shashi X-linked mental retardation syndrome; mental retardation, X-linked, syndromic 11, Shashi type; MRXS11; X-linked mental retardation Shashi type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. [-]
septooptic dysplasia	SOD; septo-optic dysplasia; De Morsier syndrome	A syndrome characterized by the classical triad of..[+] A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. [-]
salmonellosis	Salmonella infection	A primary bacterial infectious disease caused by t..[+] A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has sypmtoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. [-]
Seckel syndrome 9	SCKL9	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. [-]
Seckel syndrome 6	SCKL6	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. [-]
Seckel syndrome 1	SCKL1; microcephalic primordial dwarfism I	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. [-]
Seckel syndrome 10	SCKL10	A Seckel syndrome that has_material_basis_in compo..[+] A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. [-]
Seckel syndrome 8	SCKL8	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. [-]
Seckel syndrome 4	SCKL4	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. [-]
Seckel syndrome 7	SCKL7	A Seckel syndrome that has_material_basis_in compo..[+] A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. [-]
Seckel syndrome 5	SCKL5	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. [-]
Seckel syndrome 2	SCKL2; Seckel-type dwarfism 2; microcephalic primo.. [+] Seckel-type dwarfism 2; SCKL2; microcephalic primordial dwarfism 2 [-]	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. [-]
Schuurs-Hoeijmakers Syndrome	SHMS; autosomal dominant mental retardation 17; MR.. [+] SHMS; autosomal dominant mental retardation 17; MRD17 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. [-]
schizophrenia 1	SCZD1	A schizophrenia that has_material_basis_in an auto..[+] A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35. [-]
schizophrenia 2	SCZD2	A schizophrenia that has_material_basis_in an auto..[+] A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. [-]
schizophrenia 3	SCZD3	A schizophrenia that has_material_basis_in an auto..[+] A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD3 on chromosome 6p23. [-]
schizophrenia 4	SCZD4	A schizophrenia that has_material_basis_in an auto..[+] A schizophrenia that has_material_basis_in an autosomal dominant mutation of PRODH on chromosome 22q11.21. [-]
schizophrenia 5	SCZD5	A schizophrenia that has_material_basis_in a mutat..[+] A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26. [-]
schizophrenia 6	SCZD6	A schizophrenia that has_material_basis_in an auto..[+] A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD6 on chromosome 8p21. [-]
schizophrenia 7	SCZD7	A schizophrenia that has_material_basis_in an auto..[+] A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD7 on chromosome 13q32. [-]
schizophrenia 8	SCZD8	A schizophrenia that has_material_basis_in an auto..[+] A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD8 on chromosome 18p. [-]
schizophrenia 9	SCZD9	A schizophrenia that has_material_basis_in a mutat..[+] A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2. [-]
schizophrenia 10	SCZD10	A schizophrenia that has_material_basis_in an auto..[+] A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD10 on chromosome 15q15. [-]
schizophrenia 11	SCZD11	A schizophrenia that has_material_basis_in a mutat..[+] A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3. [-]
schizophrenia 12	SCZD12	A schizophrenia that has_material_basis_in a mutat..[+] A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2. [-]
schizophrenia 13	SCZD13	A schizophrenia that has_material_basis_in a mutat..[+] A schizophrenia that has_material_basis_in a mutation on chromosome 15q13. [-]
schizophrenia 14	SCZD14	A schizophrenia that has_material_basis_in a mutat..[+] A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1. [-]
schizophrenia 15	SCZD15	A schizophrenia that has_material_basis_in a mutat..[+] A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. [-]
schizophrenia 16	SCZD16	A schizophrenia that has_material_basis_in a mutat..[+] A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3. [-]
schizophrenia 18	SCZD18; Chromosome 7q36.3 Duplication Syndrome, 36.. [+] SCZD18; Chromosome 7q36.3 Duplication Syndrome, 362-Kb [-]	A schizophrenia that has_material_basis_in a mutat..[+] A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. [-]
spermatogenic failure 21		A male infertility due to acephalic spermatozoa th..[+] A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22. [-]
spermatogenic failure 3	SPGF3	A spermatogenic failure that is characterized by a..[+] A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. [-]
spermatogenic failure 19	SPGF19	A spermatogenic failure that is characterized by a..[+] A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. [-]
spermatogenic failure 17	SPGF17; Male infertility due to oocyte activation .. [+] SPGF17; Male infertility due to oocyte activation failure [-]	A spermatogenic failure that is characterized by a..[+] A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. [-]
spermatogenic failure 13	SPGF13	A spermatogenic failure that is characterized by a..[+] A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. [-]
spitzoid melanoma	atypical spitz nevus	A skin melanoma that is characterized by asymmetri..[+] A 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. [-]
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. [-]
spina bifida		n_a
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. [-]
Shwachman-Diamond type metaphyseal dysplasia		n_a
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		n_a
spina bifida occulta		n_a
spheroid body myopathy		n_a

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