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Disease	Synonyms	Description	Articles	Phenotypes
social emotional agnosia	expressive agnosia	An agnosia that is a loss of the ability to percei..[+] An 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. [-]
seasonal affective disorder	winter depression	A mental depression that involves presentation of ..[+] A mental depression that involves presentation of depressive symptoms only during a specific season of the year. [-]
succinic semialdehyde dehydrogenase deficiency	SSADH; 4-hydroxybutyric aciduria; gamma-hydroxybut.. [+] SSADH; 4-hydroxybutyric aciduria; gamma-hydroxybutyric aciduria [-]	A gamma-amino butyric acid metabolism disorder tha..[+] A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. [-]
Scheie syndrome	mucopolysaccharidosis type 1S; mucopolysaccharidos.. [+] mucopolysaccharidosis type 1S; mucopolysaccharidosis type IS; mucopolysaccharidosis type V [-]	A mucopolysaccharidosis characterized by corneal c..[+] A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. [-]
synpolydactyly	syndactyly type 2	A syndactyly characterized by an increased number ..[+] A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. [-]
stuttering	stammering; familial persistent stuttering	An articulation disorder characterized by involunt..[+] An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. [-]
specific language impairment		A language disorder characterized by difficulty in..[+] A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. [-]
Smith-McCort dysplasia		A Dyggve-Melchior-Clausen disease that is characte..[+] A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. [-]
Simpson-Golabi-Behmel syndrome type 1	Simpson dysmorphia syndrome; SGB syndrome; Sara An.. [+] SGB syndrome; Simpson dysmorphia syndrome; Sara Angers syndrome; DGSX Golabi-Rosen syndrome; X-linked dysplasia gigantism syndrome; bulldog syndrome; Golabi-Rosen syndrome [-]	A syndrome characterized by pre- and postnatal ove..[+] A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. [-]
scoliosis		A bone structure disease characterized by an appre..[+] A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. [-]	5 articles	23 matches
sclerosteosis		A hyperostosis characterized by excessive bone for..[+] A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. [-]	1 articles
sclerocornea	isolated congenital sclerocornea	A corneal disease in which the cornea blends with ..[+] A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. [-]
scapuloperoneal myopathy		A muscular dystrophy which begins at the lower leg..[+] A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. [-]
syndromic X-linked intellectual disability	syndromic X-linked mental retardation	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by an X-linked inheritance pattern. [-]	3 articles	18 matches
Stormorken syndrome	thrombocytopathy, asplenia and miosis	A blood platelet disease characterized by thromboc..[+] A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. [-]
Sakati-Nyhan syndrome	Sakati-Nyhan-Tisdale syndrome; ACPS with leg hypop.. [+] Sakati-Nyhan-Tisdale syndrome; ACPS with leg hypoplasia; acrocephalopolysyndactyly type 3; acrocephalopolysyndactyly Type III [-]	An acrocephalosyndactylia characterized by abnorma..[+] An 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 breathing infections. [-]
SATB2-associated syndrome	2q32-q33 microdeletion syndrome; 2q32q33 microdele.. [+] 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; Glass syndrome; monosomy 2q32q33; chromosome 2q32-q33 deletion syndrome; monosomy 2q32; monosomy 2q32-q33 [-]	A syndrome that has_material_basis_in genetic chan..[+] A syndrome that has_material_basis_in 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 the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. [-]
stromal dystrophy		n_a
subepithelial mucinous corneal dystrophy	SMCD	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life. [-]
Schnyder corneal dystrophy	Schnyder crystalline corneal dystrophy; SCCD; corn.. [+] SCCD; Schnyder crystalline corneal dystrophy; corneal dystrophy crystalline of Schnyder; crystalline stromal dystrophy; hereditary crystalline stromal dystrophy of Schnyder [-]	A stromal dystrophy that is characterized by abnor..[+] A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. [-]
salt and pepper syndrome	salt & pepper syndrome; salt-and-pepper syndrome	A syndrome characterized by severe intellectual di..[+] A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2. [-]
Shwachman-Diamond syndrome	Shwachman-Diamond type metaphyseal dysplasia; Shwa.. [+] Shwachman-Diamond type metaphyseal dysplasia; Shwachman syndrome; Shwachman-Bodian-Diamond syndrome; pancreatic insufficiency and bone marrow dysfunction [-]	A syndrome characterized by exocrine pancreatic in..[+] A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. [-]	1 articles
Schimke immuno-osseous dysplasia	Schimke immunoosseous dysplasia; spondyloepiphysea.. [+] Schimke immunoosseous dysplasia; spondyloepiphyseal dysplasia - nephrotic syndrome; Schimke syndrome; immunoosseous dysplasia Schimke type [-]	A spondyloepiphyseal dysplasia characterized by sh..[+] A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. [-]
SPOAN syndrome	spastic paraplegia, optic atropy, and neuropathy s.. [+] spastic paraplegia, optic atropy, and neuropathy syndrome; spastic paraplegia, optic atropy, and neuropathy [-]	A neurodegenerative disease characterized by spast..[+] A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy. It has material basis in homozygous mutation in the KLC2 gene on chromosome 11q13.2. [-]
shellfish allergy		A food allergy triggered by Crustacea or Mollusca.
snail allergy		A mollusc allergy triggered by snails.
spinal disease		A bone disease that is located_in the spine.	14 articles	31 matches
sclerosteosis 1	SOST1	A sclerosteosis that has_material_basis_in homozyg..[+] A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. [-]
sclerosteosis 2	SOST2	A sclerosteosis that has_material_basis_in heteroz..[+] A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. [-]	1 articles
Smith-Magenis syndrome	17p11.2 microdeletion syndrome; chromosome 17p11.2.. [+] 17p11.2 microdeletion syndrome; chromosome 17p11.2 deletion syndrome [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. [-]	2 articles
syndromic X-linked intellectual disability Lubs type	Lubs X-linked mental retardation syndrome; MECP2 d.. [+] Lubs X-linked mental retardation syndrome; MECP2 duplication syndrome; mental retardation, X-linked, syndromic, Lubs type; mental retardation, X-linked, with recurrent respiratory infections; MRXSL; X-linked intellectual disability-hypotonia-recurrent Infections syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. [-]
syndromic X-linked intellectual disability 5	syndromic X-linked mental retardation Fried type; .. [+] syndromic X-linked mental retardation Fried type; syndromic X-linked mental retardation 21; MRX59; MRXS21; Pettigrew syndrome; X-linked mental retardation 59; Mental retardation, X-linked syndromic 5; X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures; Fried syndrome; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A 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 the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. [-]
syndromic X-linked intellectual disability Snyder type	SRS; Snyder-Robinson mental retardation syndrome; .. [+] Snyder-Robinson mental retardation syndrome; SRS; spermine synthase deficiency; Snyder-Robinson syndrome; mental retardation, X-linked, Snyder-Robinson type [-]	A syndromic X-linked intellectual disability chara..[+] A 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, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. [-]
syndromic X-linked intellectual disability 17	mental retardation, X-linked, syndromic 17; X-link.. [+] mental retardation, X-linked, syndromic 17; X-linked mental retardation with alacrima and achalasia; intellectual disability-alacrima-achalasia syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A 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 anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. [-]
syndromic X-linked intellectual disability 12	mental retardation, X-linked, syndromic 12; X-link.. [+] mental retardation, X-linked, syndromic 12; X-linked intellectual disability, Wilson type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. [-]
syndromic X-linked intellectual disability Hedera type	mental retardation, X-linked, syndromic, Hedera ty.. [+] mental retardation, X-linked, syndromic, Hedera type; MRXE; MRXSH; X-linked mental retardation with epilepsy [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. [-]
syndromic X-linked intellectual disability Najm type	mental retardation and microcephaly with pontine a.. [+] mental retardation and microcephaly with pontine and cerebellar hypoplasia; MICPCH; X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. [-]
syndromic X-linked intellectual disability 7	MRXS7; X-linked intellectual disability, Ahmad typ.. [+] MRXS7; X-linked intellectual disability, Ahmad type; mental retardation, X-linked syndromic 7 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. [-]
syndromic X-linked intellectual disability Claes-Jensen type	syndromic X-linked mental retardation JARID1C-rela.. [+] syndromic X-linked mental retardation JARID1C-related; syndromic X-linked intellectual disability due to JARID1C mutation; mental retardation, X-linked, syndromic, Claes-Jensen type; MRXSJ; MRXSCJ [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. [-]
syndromic X-linked intellectual disability type 10	HSD10 deficiency, atypical type; HSD10 disease, at.. [+] HSD10 deficiency, atypical type; HSD10 disease, atypical type; mental retardation, X-linked syndromic 10; MRXS10; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. [-]
syndromic X-linked intellectual disability Turner type	mental retardation and macrocephaly syndrome; ment.. [+] mental retardation and macrocephaly syndrome; mental retardation, X-linked syndromic, Turner type; MRXST; Brooks-Wisniewski-Brown syndrome; X-linked intellectual disability, Brooks type [-]	A syndromic X-linked intellectual disability chara..[+] A 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 has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. [-]
syndromic X-linked intellectual disability Siderius type	Siderius-Hamel syndrome; Siderius X-linked mental .. [+] Siderius-Hamel syndrome; Siderius X-linked mental retardation syndrome; mental retardation syndrome, X-linked, Siderius type; MRXSSD [-]	A syndromic X-linked intellectual disability chara..[+] A 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 has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. [-]
syndromic X-linked intellectual disability Shrimpton type	MRXS9; mental retardation, X-linked, syndromic 9	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. [-]
syndromic X-linked intellectual disability 34	syndromic X-linked mental retardation Mircsof-Lang.. [+] syndromic X-linked mental retardation Mircsof-Langouet type; macrocephaly-intellectual disability-left ventricular non compaction syndrome; MRXS34; MRXSML; mental retardation, X-linked, syndromic 34 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. [-]
syndromic X-linked intellectual disability Abidi type	syndromic X-linked mental retardation Abidi type; .. [+] syndromic X-linked mental retardation Abidi type; mental retardation, X-linked syndromic, Abidi type; MRXSAB [-]	A syndromic X-linked intellectual disability chara..[+] A 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 testes that has_material_basis_in variation in the chromosomal region Xq13.2. [-]
syndromic X-linked intellectual disability Chudley-Schwartz type	mental retardation, X-linked, syndromic, Chudley-S.. [+] mental retardation, X-linked, syndromic, Chudley-Schwartz type; X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance; MRXSCS [-]	A syndromic X-linked intellectual disability chara..[+] A 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 that has_material_basis_in variation in the chromosomal region Xq21.33-q23. [-]
syndromic X-linked intellectual disability Nascimento type	mental retardation, X-linked syndromic, Nascimento.. [+] mental retardation, X-linked syndromic, Nascimento-type; X-linked intellectual disability-nail dystrophy-seizures syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A 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, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. [-]
syndromic X-linked intellectual disability 14	mental retardation, X-linked, syndromic 14	A syndromic X-linked intellectual disability chara..[+] A 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 deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. [-]
syndromic X-linked intellectual disability Cabezas type	syndromic X-linked mental retardation 15; mental r.. [+] syndromic X-linked mental retardation 15; mental retardation, X-linked, syndromic 15 (Cabezas type); MRSS; MRXS15; MRXSC; X-linked mental retardation with short stature, hypogonadism, and abnormal gait; Cabezas syndrome; X-linked mental retardation with short stature; mental retardation, X-linked, syndromic 15 [-]	A syndromic X-linked intellectual disability chara..[+] A 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 hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. [-]
syndromic X-linked intellectual disability 94	syndromic X-linked mental retardation 29; syndromi.. [+] syndromic X-linked mental retardation 29; syndromic X-linked mental retardation Wu type; 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. [-]

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