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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
semantic agnosia
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An agnosia that is a loss of the ability to visual.. [+]
An 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.
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simultanagnosia
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An agnosia that is a loss of the ability to recgon.. [+]
An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.
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social emotional agnosia
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expressive agnosia
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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.
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seasonal affective disorder
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winter depression
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A mental depression that involves presentation of .. [+]
A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
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succinic semialdehyde dehydrogenase deficiency
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SSADH; 4-hydroxybutyric aciduria; gamma-hydroxybut..
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SSADH; 4-hydroxybutyric aciduria; gamma-hydroxybutyric aciduria
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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.
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Scheie syndrome
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mucopolysaccharidosis type 1S; mucopolysaccharidos..
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mucopolysaccharidosis type 1S; mucopolysaccharidosis type IS; mucopolysaccharidosis type V
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A mucopolysaccharidosis characterized by corneal c.. [+]
A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
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synpolydactyly
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syndactyly type 2
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A syndactyly characterized by an increased number .. [+]
A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene.
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stuttering
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stammering; familial persistent stuttering
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An articulation disorder characterized by involunt.. [+]
An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
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specific language impairment
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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.
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Smith-McCort dysplasia
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A Syggve-Melchior-Clausen disease characterized by.. [+]
A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has material basis in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.
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Simpson-Golabi-Behmel syndrome type 1
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SGB syndrome; Simpson dysmorphia syndrome; Sara An..
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Simpson dysmorphia syndrome; SGB syndrome; Sara Angers syndrome; bulldog syndrome; DGSX Golabi-Rosen syndrome; Golabi-Rosen syndrome; X-linked dysplasia gigantism syndrome
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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.
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scoliosis
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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.
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sclerosteosis
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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.
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sclerocornea
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isolated congenital sclerocornea
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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.
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scapuloperoneal myopathy
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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.
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syndromic X-linked intellectual disability
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syndromic X-linked mental retardation
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A syndromic intellectual characterized by an X-lin.. [+]
A syndromic intellectual characterized by an X-linked inheritance pattern.
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Stormorken syndrome
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thrombocytopathy, asplenia and miosis
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A blood platelet disease characterized by thrombo.. [+]
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.
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Sakati-Nyhan syndrome
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Sakati-Nyhan-Tisdale syndrome; Sakati syndrome; AC..
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Sakati syndrome; Sakati-Nyhan-Tisdale syndrome; ACPS with leg hypoplasia; acrocephalopolysyndactyly type 3; acrocephalopolysyndactyly Type III
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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.
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stromal dystrophy
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A corneal dystrophy that affects the corneal strom.. [+]
A corneal dystrophy that affects the corneal stroma.
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subepithelial mucinous corneal dystrophy
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SMCD
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n_a
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Schnyder corneal dystrophy
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SCCD; Schnyder crystalline corneal dystrophy; corn..
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Schnyder crystalline corneal dystrophy; SCCD; corneal dystrophy crystalline of Schnyder; crystalline stromal dystrophy; hereditary crystalline stromal dystrophy of Schnyder
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n_a
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salt and pepper syndrome
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salt-and-pepper syndrome; salt & pepper syndrome
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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.
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Shwachman-Diamond syndrome
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Shwachman-Bodian-Diamond syndrome; Shwachman syndr..
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Shwachman-Bodian-Diamond syndrome; Shwachman syndrome; pancreatic insufficiency and bone marrow dysfunction
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A syndrome characterized by exocrine pancreatic in.. [+]
A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
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Schimke immuno-osseous dysplasia
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spondyloepiphyseal dysplasia - nephrotic syndrome; ..
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spondyloepiphyseal dysplasia - nephrotic syndrome; Schimke syndrome; Schimke immunoosseous dysplasia; immunoosseous dysplasia Schimke type
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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.
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SPOAN syndrome
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spastic paraplegia, optic atropy, and neuropathy s..
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spastic paraplegia, optic atropy, and neuropathy syndrome; spastic paraplegia, optic atropy, and neuropathy
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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.
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shellfish allergy
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A food allergy triggered by Crustacea or Mollusca.
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snail allergy
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A mollusc allergy triggered by snails.
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spinal disease
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n_a
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sclerosteosis 1
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SOST1
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A sclerosteosis that has_material_basis_in homozyg.. [+]
A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21.
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sclerosteosis 2
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SOST2
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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.
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Smith-Magenis syndrome
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17p11.2 microdeletion syndrome; chromosome 17p11.2..
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17p11.2 microdeletion syndrome; chromosome 17p11.2 deletion syndrome
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A chromosome deletion syndrome characterized by mi.. [+]
A chromosome deletion syndrome 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.
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syndromic X-linked intellectual disability Lubs type
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Lubs X-linked mental retardation syndrome; MECP2 d..
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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
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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.
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syndromic X-linked intellectual disability 5
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syndromic X-linked mental retardation Fried type; ..
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syndromic X-linked mental retardation Fried type; syndromic X-linked mental retardation 21; Fried syndrome; Mental retardation, X-linked syndromic 5; MRX59; MRXS21; Pettigrew syndrome; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome; X-linked mental retardation 59; X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures
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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.
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syndromic X-linked intellectual disability Snyder type
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spermine synthase deficiency; SRS; Snyder-Robinson..
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SRS; spermine synthase deficiency; Snyder-Robinson syndrome; Snyder-Robinson mental retardation syndrome; mental retardation, X-linked, Snyder-Robinson type
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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.
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syndromic X-linked intellectual disability 17
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intellectual disability-alacrima-achalasia syndrom..
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intellectual disability-alacrima-achalasia syndrome; mental retardation, X-linked, syndromic 17; X-linked mental retardation with alacrima and achalasia
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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.
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syndromic X-linked intellectual disability 12
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mental retardation, X-linked, syndromic 12; X-link..
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mental retardation, X-linked, syndromic 12; X-linked intellectual disability, Wilson type
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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.
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syndromic X-linked intellectual disability Hedera type
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mental retardation, X-linked, syndromic, Hedera ty..
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mental retardation, X-linked, syndromic, Hedera type; MRXE; MRXSH; X-linked mental retardation with epilepsy
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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.
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syndromic X-linked intellectual disability Najm type
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mental retardation and microcephaly with pontine a..
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mental retardation and microcephaly with pontine and cerebellar hypoplasia; MICPCH; X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
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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.
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syndromic X-linked intellectual disability 7
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mental retardation, X-linked syndromic 7; MRXS7; X..
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mental retardation, X-linked syndromic 7; MRXS7; X-linked intellectual disability, Ahmad type
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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.
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syndromic X-linked intellectual disability Claes-Jensen type
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syndromic X-linked mental retardation JARID1C-rela..
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syndromic X-linked mental retardation JARID1C-related; syndromic X-linked intellectual disability due to JARID1C mutation; mental retardation, X-linked, syndromic, Claes-Jensen type; MRXSCJ; MRXSJ
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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 behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11.
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syndromic X-linked intellectual disability type 10
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HSD10 deficiency, atypical type; HSD10 disease, at..
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HSD10 deficiency, atypical type; HSD10 disease, atypical type; mental retardation, X-linked syndromic 10; MRXS10; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
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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.
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syndromic X-linked intellectual disability Turner type
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mental retardation and macrocephaly syndrome; ment..
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mental retardation and macrocephaly syndrome; mental retardation, X-linked syndromic, Turner type; MRXST
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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.
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syndromic X-linked intellectual disability Siderius type
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Siderius-Hamel syndrome; Siderius X-linked mental ..
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Siderius-Hamel syndrome; Siderius X-linked mental retardation syndrome; mental retardation syndrome, X-linked, Siderius type; MRXSSD
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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.
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syndromic X-linked intellectual disability Shrimpton type
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mental retardation, X-linked, syndromic 9; MRXS9
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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.
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syndromic X-linked intellectual disability 34
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syndromic X-linked mental retardation Mircsof-Lang..
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syndromic X-linked mental retardation Mircsof-Langouet type; macrocephaly-intellectual disability-left ventricular non compaction syndrome; mental retardation, X-linked, syndromic 34; MRXS34; MRXSML
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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.
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syndromic X-linked intellectual disability Abidi type
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syndromic X-linked mental retardation Abidi type; ..
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syndromic X-linked mental retardation Abidi type; mental retardation, X-linked syndromic, Abidi type; MRXSAB
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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.
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syndromic X-linked intellectual disability Chudley-Schwartz type
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mental retardation, X-linked, syndromic, Chudley-S..
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mental retardation, X-linked, syndromic, Chudley-Schwartz type; MRXSCS; X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance
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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.
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syndromic X-linked intellectual disability Nascimento type
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mental retardation, X-linked syndromic, Nascimento..
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mental retardation, X-linked syndromic, Nascimento-type; X-linked intellectual disability-nail dystrophy-seizures syndrome
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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.
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syndromic X-linked intellectual disability 14
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mental retardation, X-linked, syndromic 14
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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.
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syndromic X-linked intellectual disability Cabezas type
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syndromic X-linked mental retardation 15; Cabezas ..
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syndromic X-linked mental retardation 15; Cabezas syndrome; mental retardation, X-linked, syndromic 15 (Cabezas type); MRSS; MRXS15; MRXSC; X-linked mental retardation with short stature; X-linked mental retardation with short stature, hypogonadism, and abnormal gait
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A syndromic X-linked intellectual disability chara.. [+]
A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal 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.
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