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Disease	Synonyms	Description	Articles	Phenotypes
parietal lobe neoplasm	malignant neoplasm of parietal lobe; tumor of Pari.. [+] malignant neoplasm of parietal lobe; tumor of Parietal Lobe [-]	A cerebrum cancer that is located_in the parietal ..[+] A cerebrum cancer that is located_in the parietal lobe. [-]
sphenoidal sinus cancer	malignant tumor of sphenoid sinus; malignant tumor.. [+] malignant tumor of sphenoid sinus; malignant tumor of Sphenoidal sinus; malignant tumor of sphenoid sinus (disorder) [-]	n_a
disease of metabolism	metabolic disease	A disease that involving errors in metabolic proce..[+] A disease that involving errors in metabolic processes of building or degradation of molecules. [-]	74 articles
branchiootorenal syndrome	Melnick-Fraser syndrome; Melnick-Fraser syndrome (.. [+] Melnick-Fraser syndrome; Melnick-Fraser syndrome (disorder); branchiootorenal dysplasia; Branchio-otorenal dysplasia; Branchio-Oto-renal syndrome [-]	A syndrome characterized by branchial arch anomali..[+] A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. [-]	12 articles	35 matches
centronuclear myopathy	myotubular myopathy	A congenital structural myopathy characterized by ..[+] A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. [-]
beta-ketothiolase deficiency	Mitochondrial acetoacetyl-CoA Thiolase deficiency; .. [+] Mitochondrial acetoacetyl-CoA Thiolase deficiency; 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; alpha-methylacetoaceticaciduria; peroxisomal thiolase deficiency (disorder); peroxisomal thiolase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. [-]
calcaneonavicular coalition	Multiple synostosis syndrome; Multiple synostosis .. [+] Multiple synostosis syndrome; Multiple synostosis syndrome (disorder); SYNOSTOSES, TARSAL, CARPAL AND DIGITAL [-]	A synostosis characterized by the fusion of carpal..[+] A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. [-]
cartilage-hair hypoplasia	Metaphyseal chondrodysplasia, McKusick type; McKus.. [+] Metaphyseal chondrodysplasia, McKusick type; McKusick type metaphyseal chondrodysplasia; CHH [-]	An ectodermal dysplasia characterized by short-lim..[+] An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. [-]
D-mannitol allergy	mannitol allergy	A drug allergy that has_allergic_trigger D-mannito..[+] A drug allergy that has_allergic_trigger D-mannitol. [-]
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; Searle's ulcer; Searl 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	Marchesani-Weill Syndrome; Mesodermal Dysmorphodys.. [+] Marchesani-Weill Syndrome; Mesodermal Dysmorphodystrophy, Congenital; congenital mesodermal dystrophy; GEMSS syndrome; Spherophakia Brachymorphia Syndrome [-]	A syndrome characterized by short stature, brachyc..[+] A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. [-]
Barth syndrome	MGA type II; MGA Type 2; 3-methylglutaconicaciduri.. [+] MGA Type 2; MGA type II; 3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type II [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria 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. [-]	1 articles
intermediate spinal muscular atrophy	MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE; MUSCU.. [+] MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE; MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM; SMA II; spinal muscular atrophy 2; spinal muscular atrophy type II; SMA2 [-]	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; Harper's syndro.. [+] microcephalic primordial dwarfism; Harper's syndrome; bird-headed dwarfism; Virchow-Seckel dwarfism [-]	A syndrome characterized by intrauterine growth re..[+] A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. [-]	2 articles
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); ALG2-CDG (CDG-1i); ALG3-CDG (CDG-1d); ALG6-CDG (CDG-1c); ALG8-CDG (CDG-1h); ALG9-CDG (CDG-1l); 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); ALG12-CDG (CDG-1g); DOLK-CDG (CDG-1m) [-]	A congenital disorder of glycosylation characteriz..[+] A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. [-]
congenital disorder of glycosylation type II	MOGS-CDG (CDG-2b); MGAT2-CDG (CDG-2a); B4GALT1-CDG.. [+] MGAT2-CDG (CDG-2a); MOGS-CDG (CDG-2b); B4GALT1-CDG (CDG-2d) [-]	A congenital disorder of glycosylation that involv..[+] A congenital disorder of glycosylation that involves malfunctioning trimming or 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. [-]	1 articles
paranasal sinus cancer	Mucoepidermoid carcinoma of Accessory sinus; adeno.. [+] Mucoepidermoid carcinoma of Accessory sinus; adenoid cystic carcinoma of Accessory sinus; Epidermoid carcinoma of the paranasal sinus; paranasal sinus adenocarcinoma; paranasal sinus squamous cell carcinoma; squamous cell carcinoma of paranasal sinus; paranasal sinus mucoepidermoid carcinoma; adenoid cystic carcinoma of paranasal sinus; paranasal sinus adenoid cystic carcinoma [-]	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 tumour; .. [+] malignant gastrointestinal neuroendocrine tumour; malignant gastrointestinal neuroendocrine tumor; gastrointestinal neuroendocrine tumour [-]	A gastrointestinal system cancer that has_material..[+] A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. [-]
Arts syndrome	MRXSARTS; MRXS18; ARTS; fatal X-linked ataxia with.. [+] MRXS18; MRXSARTS; ARTS; fatal X-linked ataxia with deafness and loss of vision; syndromic X-linked mental retardation 18; syndromic X-linked mental retardation Arts type; Lethal ataxia with deafness and optic atrophy [-]	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. [-]
pseudo-TORCH syndrome 1	microcephaly-intracranial calcification-intellectu.. [+] microcephaly-intracranial calcification-intellectual disability syndrome; band-like calcification with simplified gyration and polymicrogyria; Baraitser-Brett-Piesowicz syndrome; Baraitser-Reardon syndrome; bilateral band-like calcification with polymicrogyria; BLC-PMG; BLCPMG; PTORCH1 [-]	A syndrome that is characterized by congenital mic..[+] A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2. [-]
Borjeson-Forssman-Lehmann syndrome	MRXSBFL; mental retardation, epilepsy, and endocri.. [+] MRXSBFL; mental retardation, epilepsy, and endocrine disorder; BORJ; Borjeson syndrome; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type; BFLS; intellectual deficiency-epilepsy-endocrine disorders syndrome [-]	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-optic neuronopathy syndrome	Mohr-Tranebjaerg syndrome; Mohr-Tranebjaerg Syndro.. [+] Mohr-Tranebjaerg syndrome; Mohr-Tranebjaerg Syndrome; Deafness Dystonia Optic Atrophy Syndrome; Dystonia Deafness Syndrome; Deafness Dystonia Optic Neuronopathy Syndrome (DDON); Deafness Dystonia Optic Neuronopathy Syndrome; deafness dystonia syndrome; Jensen 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, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. [-]
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 [-]	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; 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. [-]

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