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Disease	Synonyms	Description
cartilage-hair hypoplasia	Metaphyseal chondrodysplasia, McKusick type; McKus.. [+] Metaphyseal chondrodysplasia, McKusick type; McKusick type metaphyseal chondrodysplasia [-]	n_a
Rickettsia parkeri spotted fever	maculatum infection	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. [-]
Buruli ulcer disease	Mossman ulcer; Bairnsdale ulcer; Daintree ulcer; S.. [+] Mossman ulcer; Bairnsdale ulcer; Daintree ulcer; Searl ulcer; Searle's ulcer [-]	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. [-]
Weill-Marchesani syndrome	Mesodermal Dysmorphodystrophy, Congenital; Marches.. [+] Mesodermal Dysmorphodystrophy, Congenital; Marchesani-Weill Syndrome; congenital mesodermal dystrophy; GEMSS syndrome; Spherophakia Brachymorphia Syndrome [-]	An autosomal genetic disease characterized by shor..[+] An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. [-]
Barth syndrome	MGA Type 2; MGA type II; 3-methylglutaconicaciduri.. [+] MGA type II; MGA Type 2; 3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type II [-]	A lipid metabolism disorder that has_material_basi..[+] A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. [-]
endemic typhus	murine typhus; cat flea rickettsiosis; fleaborne t.. [+] murine typhus; cat flea rickettsiosis; fleaborne typhus; Rat-Flea Typhus; Rickettsia felis spotted fever; Shop typhus; toulon typhus; urban typhus; Urban Typhus of Malaya [-]	A typhus that has_material_basis_in Rickettsia typ..[+] A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash. [-]
Gamstorp-Wohlfart syndrome	myokymia, myotonia and muscle wasting; autosomal r.. [+] myokymia, myotonia and muscle wasting; autosomal recessive neuromyotonia and axonal neuropathy [-]	A syndrome characterized by progressive weakness a..[+] A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. [-]
intermediate spinal muscular atrophy	MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE; MUSCU.. [+] MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE; MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM; SMA II; SMA2; spinal muscular atrophy 2; spinal muscular atrophy type II [-]	A childhood spinal muscular atrophy that is charac..[+] A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. [-]
Seckel syndrome	microcephalic primordial dwarfism; bird-headed dwa.. [+] microcephalic primordial dwarfism; bird-headed dwarfism; Harper's syndrome; Virchow-Seckel dwarfism [-]	An autosomal recessive disease characterized by in..[+] An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. [-]
congenital disorder of glycosylation type I	MPDU1-CDG (CDG-1f); MPI-CDG (CDG-1b); ALG1-CDG (CD.. [+] MPI-CDG (CDG-1b); MPDU1-CDG (CDG-1f); ALG1-CDG (CDG-1k); ALG11-CDG (CDG-1p); ALG12-CDG (CDG-1g); ALG2-CDG (CDG-1i); ALG3-CDG (CDG-1d); ALG6-CDG (CDG-1c); ALG8-CDG (CDG-1h); ALG9-CDG (CDG-1l); DOLK-CDG (CDG-1m); DPAGT1-CDG (CDG-1j); DPM1-CDG (CDG-1e); DPM2-CDG (CDG-1u); DPM3-CDG (CDG-1o); PMM2-CDG (CDG-1a); RFT1-CDG (CDG-1n); SRD5A3-CDG (CDG-1q) [-]	A congenital disorder of glycosylation involve dis..[+] A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. [-]
congenital disorder of glycosylation type II	MGAT2-CDG (CDG-2a); MOGS-CDG (CDG-2b); B4GALT1-CDG.. [+] MOGS-CDG (CDG-2b); MGAT2-CDG (CDG-2a); B4GALT1-CDG (CDG-2d) [-]	A congenital disorder of glycosylation that involv..[+] A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. [-]
hereditary lymphedema	Milroy's disease; Nonne-Milroy lymphedema	A lymphedema commonly located_in legs, caused_by c..[+] A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. [-]
paranasal sinus cancer	Mucoepidermoid carcinoma of Accessory sinus; adeno.. [+] Mucoepidermoid carcinoma of Accessory sinus; adenoid cystic carcinoma of Accessory sinus; adenoid cystic carcinoma of paranasal sinus; Epidermoid carcinoma of the paranasal sinus; paranasal sinus adenocarcinoma; paranasal sinus adenoid cystic carcinoma; paranasal sinus mucoepidermoid carcinoma; paranasal sinus squamous cell carcinoma; squamous cell carcinoma of paranasal sinus [-]	A respiratory system cancer that is located_in the..[+] A respiratory system cancer that is located_in the paranasal sinuses. [-]
gastrointestinal neuroendocrine tumor	malignant gastrointestinal neuroendocrine tumor	A gastrointestinal system cancer that has_material..[+] A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. [-]
Arts syndrome	MRXS18; MRXSARTS; ARTS; fatal X-linked ataxia with.. [+] MRXSARTS; MRXS18; ARTS; fatal X-linked ataxia with deafness and loss of vision; Lethal ataxia with deafness and optic atrophy; syndromic X-linked mental retardation 18; syndromic X-linked mental retardation Arts type [-]	An X-linked disease that is characterized by profo..[+] An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. [-]
Borjeson-Forssman-Lehmann syndrome	MRXSBFL; mental retardation, epilepsy, and endocri.. [+] MRXSBFL; mental retardation, epilepsy, and endocrine disorder; BFLS; BORJ; Borjeson syndrome; intellectual deficiency-epilepsy-endocrine disorders syndrome; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type [-]	An X-linked disease that is characterized by intel..[+] An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. [-]
deafness dystonia syndrome	Mohr-Tranebjaerg Syndrome; Deafness Dystonia Optic.. [+] Mohr-Tranebjaerg Syndrome; Deafness Dystonia Optic Atrophy Syndrome; Deafness Dystonia Optic Neuronopathy Syndrome (DDON); Dystonia Deafness Syndrome [-]	A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. [-]
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. [-]
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; WARBM; Warburg-Sjo-Fledelius syndr.. [+] micro syndrome; WARBM; Warburg-Sjo-Fledelius syndrome [-]	An autosomal recessive disease characterized by se..[+] An autosomal recessive disease 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; dolichospondylic.. [+] Miller-McKusick-Malvaux syndrome; dolichospondylic dysplasia; gloomy face syndrome; Le Merrer syndrome; three M syndrome; Yakut short stature syndrome [-]	A syndrome characterized by dwarfism, facial dysmo..[+] A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. [-]
Galloway-Mowat syndrome	microcephaly, hiatal hernia and nephrotic syndrome.. [+] microcephaly, hiatal hernia and nephrotic syndrome; Galloway syndrome; nephrosis-microcephaly syndrome; nephrosis-neuronal dysmigration syndrome [-]	An autosomal recessive disease characterized_by is..[+] An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. [-]
distal 10q deletion syndrome	monosomy 10qter; chromosome 10q26 deletion syndrom.. [+] monosomy 10qter; chromosome 10q26 deletion syndrome; distal monosomy 10q; telomeric deletion 10q; terminal chromosome 10q26 deletion syndrome [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. [-]
chromosome 18p deletion syndrome	monosomy 18p; 18p- syndrome; De Grouchy syndrome	n_a
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 [-]	n_a
chromosome 1p36 deletion syndrome	monosomy 1p36; 1p36 deletion syndrome; deletion 1p.. [+] monosomy 1p36; 1p36 deletion syndrome; deletion 1p36; subtelomeric 1p36 deletion [-]	n_a
chromosome 1q21.1 deletion syndrome	monosomy 1q21.1; 1q21.1 microdeletion syndrome	n_a
chromosome 3q13.31 deletion syndrome	monosomy 3q13; 3q13 microdeletion syndrome	n_a
chromosome 4q21 deletion syndrome	monosomy 4q21; 4q21 microdeletion syndrome	n_a
chromosome 6q24-q25 deletion syndrome	monosomy 6q25; 6q25 microdeletion syndrome	n_a
chromosome Xp21 deletion syndrome	monosomy Xp21; complex glycerol kinase deficiency; .. [+] monosomy Xp21; complex glycerol kinase deficiency; Xp21 microdeletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. [-]
chromosome 2q32-q33 deletion syndrome	monosomy 2q32-q33; monosomy 2q32q33; monosomy 2q32.. [+] monosomy 2q32q33; monosomy 2q32-q33; monosomy 2q32; 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; Glass syndrome [-]	n_a
epithelial basement membrane dystrophy	microcystic corneal dystrophy; Cogan corneal dystr.. [+] microcystic corneal dystrophy; Cogan corneal dystrophy; EBMD [-]	n_a
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	MODED syndrome; microcephaly-oculo-digito-esophage.. [+] MODED syndrome; microcephaly-oculo-digito-esophageal-duodenal syndrome; microcephaly-digital anomalies-normal intelligence 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 GLE1 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 chromosome deletion syndrome characterized by tr..[+] A chromosome 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 [-]	An autosomal recessive disease characterized by cl..[+] An autosomal recessive disease 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	mitochondrial HSP60 chaperonopathy; MitCHAP60 dise.. [+] mitochondrial HSP60 chaperonopathy; MitCHAP60 disease; 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	MRX59; MRXS21; Mental retardation, X-linked syndro.. [+] MRXS21; MRX59; Mental retardation, X-linked syndromic 5; Fried syndrome; Pettigrew syndrome; syndromic X-linked mental retardation 21; syndromic X-linked mental retardation Fried type; 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 [-]	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 mental retardation syndrome; Snyder-Robinson syndrome; spermine synthase deficiency; SRS [-]	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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