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Disease	Synonyms	Description	Articles	Phenotypes
Armfield syndrome	MRXSA; mental retardation syndrome, X-linked, Armf.. [+] MRXSA; mental retardation syndrome, X-linked, Armfield type; Armfield X-linked mental retardation syndrome; syndromic X-linked mental retardation Armfield type; X-linked intellectual disability, Armfield type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. [-]
oral squamous cell carcinoma	mouth squamous cell carcinoma	An oral cavity cancer that has_material_basis_in s..[+] An oral cavity cancer that has_material_basis_in squamous cells. [-]
extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue	MALT lymphoma; MALT lymphoma of the dura; mucosa-a.. [+] MALT lymphoma of the dura; MALT lymphoma; mucosa-associated lymphoid tissue lymphoma [-]	A marginal zone B-cell lymphoma that has_material_..[+] A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. [-]
nonbacterial thrombotic endocarditis	marantic endocarditis; non-bacterial thrombotic en.. [+] marantic endocarditis; non-bacterial thrombotic endocarditis [-]	An endocarditis that results from the deposition o..[+] An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. [-]
connective tissue benign neoplasm	mesenchymal tissue neoplasm; soft tissue benign ne.. [+] mesenchymal tissue neoplasm; soft tissue benign neoplasm; tumor of the soft tissue; neoplasm of soft tissue; neoplasm of soft tissues [-]	A musculoskeletal system benign neoplasm that is l..[+] A musculoskeletal system benign neoplasm that is located_in connective tissue. [-]
Scheie syndrome	mucopolysaccharidosis type V; mucopolysaccharidosi.. [+] mucopolysaccharidosis type V; mucopolysaccharidosis type IS; mucopolysaccharidosis type 1S [-]	A mucopolysaccharidosis characterized by corneal c..[+] A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. [-]
Warburg micro syndrome	micro syndrome; Warburg-Sjo-Fledelius syndrome; WA.. [+] micro syndrome; Warburg-Sjo-Fledelius syndrome; WARBM [-]	A syndrome characterized by severe intellectual di..[+] A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. [-]
3-M syndrome	Miller-McKusick-Malvaux syndrome; gloomy face synd.. [+] Miller-McKusick-Malvaux syndrome; gloomy face syndrome; Le Merrer syndrome; three M syndrome; Yakut short stature syndrome; dolichospondylic dysplasia [-]	A syndrome characterized by dwarfism, facial dysmo..[+] A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. [-]
Galloway-Mowat syndrome 1	microcephaly, hiatal hernia and nephrotic syndrome.. [+] microcephaly, hiatal hernia and nephrotic syndrome; Galloway syndrome; nephrosis-microcephaly syndrome; nephrosis-neuronal dysmigration syndrome; autosomal recessive spinocerebellar ataxia 5; SCAR5 [-]	A Galloway-Mowat syndrome that has_material_basis_..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. [-]	2 articles	21 matches
distal 10q deletion syndrome	monosomy 10qter; chromosome 10q26 deletion syndrom.. [+] monosomy 10qter; chromosome 10q26 deletion syndrome; telomeric deletion 10q; terminal chromosome 10q26 deletion syndrome; distal monosomy 10q [-]	n_a
chromosome 18p deletion syndrome	monosomy 18p; De Grouchy syndrome; 18p- syndrome	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. [-]
chromosome 18q deletion syndrome	monosomy 18q; 18q- syndrome; deletion 18q	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. [-]
chromosome 19q13.11 deletion syndrome	monosomy 19q13.11; 19q13.11 microdeletion syndrome.. [+] monosomy 19q13.11; 19q13.11 microdeletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. [-]
chromosome 1p36 deletion syndrome	monosomy 1p36; 1p36 deletion syndrome; deletion 1p.. [+] monosomy 1p36; 1p36 deletion syndrome; deletion 1p36; subtelomeric 1p36 deletion [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. [-]
chromosome 1q21.1 deletion syndrome	monosomy 1q21.1; 1q21.1 microdeletion syndrome	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. [-]
chromosome 3q13.31 deletion syndrome	monosomy 3q13; 3q13 microdeletion syndrome	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia. [-]
chromosome 4q21 deletion syndrome	monosomy 4q21; 4q21 microdeletion syndrome	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. [-]
chromosome 6q24-q25 deletion syndrome	monosomy 6q25; 6q25 microdeletion syndrome	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. [-]
chromosome Xp21 deletion syndrome	monosomy Xp21; Xp21 microdeletion syndrome; comple.. [+] monosomy Xp21; Xp21 microdeletion syndrome; complex glycerol kinase deficiency [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. [-]
SATB2-associated syndrome	monosomy 2q32; monosomy 2q32-q33; monosomy 2q32q33.. [+] monosomy 2q32-q33; monosomy 2q32; monosomy 2q32q33; 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; Glass syndrome; chromosome 2q32-q33 deletion syndrome [-]	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. [-]
epithelial basement membrane dystrophy	microcystic corneal dystrophy; EBMD; Cogan corneal.. [+] microcystic corneal dystrophy; EBMD; Cogan corneal dystrophy [-]	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. [-]
chromosome Xp11.23-p11.22 duplication syndrome	microduplication Xp11.22-p11.23 syndrome; trisomy .. [+] microduplication Xp11.22-p11.23 syndrome; trisomy Xp11.22-p11.23 [-]	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. [-]
Desbuquois dysplasia	micromelic dwarfism with vertebral and metaphyseal.. [+] micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; Desbuquois syndrome [-]	An osteochondrodysplasia characterized by short st..[+] An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. [-]
Feingold syndrome	microcephaly-digital anomalies-normal intelligence.. [+] microcephaly-digital anomalies-normal intelligence syndrome; MODED syndrome; microcephaly-oculo-digito-esophageal-duodenal syndrome; digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; FGLDS; oculo-digito-esophageal-duodenal syndrome; ODED syndrome [-]	A syndrome characterized by variable combinations ..[+] A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. [-]
apple allergy	Malus domestica fruit allergy	A fruit allergy triggered by Malus domestica plant..[+] A fruit allergy triggered by Malus domestica plant fruit food product. [-]
lethal congenital contracture syndrome 1	multiple contracture syndrome, Finnish type; LCCS1.. [+] multiple contracture syndrome, Finnish type; LCCS1 [-]	A lethal congenital contracture syndrome that has_..[+] A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. [-]
lethal congenital contracture syndrome 2	multiple contracture syndrome, Israeli-Bedouin typ.. [+] multiple contracture syndrome, Israeli-Bedouin type; LCCS2 [-]	A lethal congenital contracture syndrome that can ..[+] A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. [-]
Brunner Syndrome	monoamine oxidase A deficiency	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. [-]
chromosome 9p deletion syndrome	monosomy 9p syndrome; 9p syndrome; Alfi syndrome	A chromosomal deletion syndrome characterized by t..[+] A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. [-]
cleft lip-palate-ectodermal dysplasia syndrome	Margarita type of ectodermal dysplasia; cleft lip/.. [+] Margarita type of ectodermal dysplasia; cleft lip/palate-syndactyly-pili torti syndrome; CLPED1; syndactyly-ectodermal dysplasia-cleft/lip palate; Zlotogora-Zilberman-Tenenbaum syndrome [-]	A syndrome characterized by cleft lip, cleft palat..[+] A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. [-]
hypomyelinating leukodystrophy 4	MitCHAP60 disease; mitochondrial HSP60 chaperonopa.. [+] MitCHAP60 disease; mitochondrial HSP60 chaperonopathy; HLD4; Pelizaeus-Merzbacher-like disease due to HSPD1 mutation [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. [-]
syndromic X-linked intellectual disability Lubs type	MRXSL; mental retardation, X-linked, with recurren.. [+] MRXSL; mental retardation, X-linked, with recurrent respiratory infections; mental retardation, X-linked, syndromic, Lubs type; MECP2 duplication syndrome; Lubs X-linked mental retardation syndrome; 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	MRXS21; Mental retardation, X-linked syndromic 5; .. [+] Mental retardation, X-linked syndromic 5; MRXS21; MRX59; Pettigrew syndrome; syndromic X-linked mental retardation 21; syndromic X-linked mental retardation Fried type; X-linked mental retardation 59; 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	mental retardation, X-linked, Snyder-Robinson type.. [+] mental retardation, X-linked, Snyder-Robinson type; Snyder-Robinson syndrome; spermine synthase deficiency; SRS; Snyder-Robinson mental retardation syndrome [-]	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	MRXE; MRXSH; mental retardation, X-linked, syndrom.. [+] MRXSH; MRXE; mental retardation, X-linked, syndromic, Hedera type; 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	MICPCH; mental retardation and microcephaly with p.. [+] MICPCH; mental retardation and microcephaly with pontine and cerebellar hypoplasia; 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; mental retardation, X-linked syndromic 7; X.. [+] mental retardation, X-linked syndromic 7; MRXS7; X-linked intellectual disability, Ahmad type [-]	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	MRXSJ; MRXSCJ; mental retardation, X-linked, syndr.. [+] MRXSCJ; MRXSJ; mental retardation, X-linked, syndromic, Claes-Jensen type; syndromic X-linked intellectual disability due to JARID1C mutation; syndromic X-linked mental retardation JARID1C-related [-]	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	mental retardation, X-linked syndromic 10; MRXS10; .. [+] MRXS10; mental retardation, X-linked syndromic 10; HSD10 deficiency, atypical type; HSD10 disease, atypical type; 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	MRXST; mental retardation, X-linked syndromic, Tur.. [+] MRXST; mental retardation, X-linked syndromic, Turner type; mental retardation and macrocephaly syndrome; 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	MRXSSD; mental retardation syndrome, X-linked, Sid.. [+] MRXSSD; mental retardation syndrome, X-linked, Siderius type; Siderius X-linked mental retardation syndrome; Siderius-Hamel syndrome [-]	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	mental retardation, X-linked, syndromic 9; MRXS9	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. [-]
Wilson-Turner syndrome	MRXS6; mental retardation, X-linked, with gynecoma.. [+] MRXS6; mental retardation, X-linked, with gynecomastia and obesity; mental retardation, X-linked, syndromic 6; WTS; X-linked intellectual disability-gynecomastia-obesity syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. [-]
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	MRXS28; mental retardation, X-linked, syndromic 28.. [+] MRXS28; mental retardation, X-linked, syndromic 28; corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; Graham-Cox syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. [-]
syndromic X-linked intellectual disability 34	mental retardation, X-linked, syndromic 34; MRXSML.. [+] mental retardation, X-linked, syndromic 34; MRXSML; MRXS34; macrocephaly-intellectual disability-left ventricular non compaction syndrome; syndromic X-linked mental retardation Mircsof-Langouet type [-]	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	MRXSAB; mental retardation, X-linked syndromic, Ab.. [+] MRXSAB; mental retardation, X-linked syndromic, Abidi type; syndromic X-linked mental retardation Abidi type [-]	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	MRXSCS; mental retardation, X-linked, syndromic, C.. [+] MRXSCS; mental retardation, X-linked, syndromic, Chudley-Schwartz type; X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance [-]	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. [-]

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