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Disease	Synonyms	Description	Articles	Phenotypes
dermoid cyst of skin	skin Dermoid; Dermoid cyst of skin (finding); Derm.. [+] skin Dermoid; Dermoid cyst of skin (finding); Dermoid cyst of skin [-]	A dermoid cyst that is located_in the skin.
lymphogranuloma venereum	Strumous bubo; Durand-Nicolas-Favre disease; Lymph.. [+] Strumous bubo; Durand-Nicolas-Favre disease; Lymphogranuloma inguinale; Poradenitis inguinale; Climatic or tropical bubo [-]	A commensal bacterial infectious disease that resu..[+] A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. [-]
trochlear nerve disease	Superior oblique muscle innervation disorder; diso.. [+] Superior oblique muscle innervation disorder; disorder of trochlear nerve; Trochlear nerve disorder, NOS; Trochlear nerve disorder [-]	n_a
nuclear senile cataract	Senile nuclear cataract; Senile nuclear sclerosis; .. [+] Senile nuclear sclerosis; Senile nuclear cataract [-]	A senile cataract that is characterized by opacifi..[+] A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging. [-]
Tietze's syndrome	Slipping rib syndrome; Costochondral junction synd.. [+] Slipping rib syndrome; Costochondral junction syndrome; Costochondritis; Tietze's disease; Costalchondritis; Tietze syndrome [-]	n_a
epicondylitis	shooter's elbow; andrel epicondylitis; archer's el.. [+] shooter's elbow; andrel epicondylitis; archer's elbow; golfer's elbow; hockey elbow; medial epicondylitis; Lateral epicondylitis; tennis elbow [-]	A bone inflammation disease that results_in inflam..[+] A bone inflammation disease that results_in inflammation located_in epicondyle. [-]
boutonneuse fever	South African tick-bite fever; South African tick-.. [+] South African tick-bite fever; South African tick-bite fever (disorder); african tick typhus; African tick typhus (disorder); Boutonneuse disease; Kenya fever; kenya tick typhus; Mediterranean spotted fever; Mediterranean tick fever; African tick typhus; marseilles fever; Rickettsia conorii spotted fever; Conor and Bruch's disease; Kenyan tick typhus [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. [-]
azoospermia	spermatogenic failure	A male infertility disease characterized by the ab..[+] A male infertility disease characterized by the absence of any measurable level of sperm in semen. [-]
46,XY sex reversal	Swyer syndrome; 46,XY SEX REVERSAL; Pure gonadal d.. [+] Swyer syndrome; 46,XY SEX REVERSAL; Pure gonadal dysgenesis 46,XY; 46 XY gonadal dysgenesis [-]	A gonadal dysgenesis that is characterized by a no..[+] A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. [-]
Niemann-Pick disease	Sphingomyelinase Deficiency Disease; sphingomyelin.. [+] Sphingomyelinase Deficiency Disease; sphingomyelin lipidosis; lipoid histiocytosis (classical phosphatide); Niemann-Pick disease type A; Niemann-Pick disease type B; Niemann-Pick disease type C; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease, subacute juvenile form; Type A Niemann-Pick Disease; lipoid histiocytosis [-]	A sphingoliidosis characterized by the accumulatio..[+] A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. [-]
trichorhinophalangeal syndrome type I	Sugio-Kajii syndrome; type I trichorhinophalangeal.. [+] Sugio-Kajii syndrome; type I trichorhinophalangeal syndrome; type III trichorhinophalangeal syndrome; Trichorhinophalangeal dysplasia type I; trichorhinophalangeal syndrome type 1 [-]	A syndrome that is characterized by short stature,..[+] A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). [-]
calcaneonavicular coalition	SYNOSTOSES, TARSAL, CARPAL AND DIGITAL; Multiple s.. [+] SYNOSTOSES, TARSAL, CARPAL AND DIGITAL; Multiple synostosis syndrome (disorder); Multiple synostosis syndrome [-]	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. [-]
African tick-bite fever	south african tick-bite fever; Rickettsia africae .. [+] south african tick-bite fever; Rickettsia africae spotted fever [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. [-]
Rocky Mountain spotted fever	Sao Paulo typhus; So Paulo fever; Brazillian spott.. [+] So Paulo fever; Sao Paulo typhus; Brazillian spotted; Choix; Exanthematic typhus of Sao Paulo; Fiebre maculosa; Fiebre manchada; Tick typhus; Tobia fever [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. [-]
otomycosis	Singapore ear	An otitis externa which is a disease of the ear pr..[+] An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. [-]
autoimmune polyendocrine syndrome type 2	Schmidt syndrome	An autoimmune polyendocrine syndrome that is chara..[+] An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. [-]
tick-borne encephalitis	Siberian tick-borne encephalitis; Russian spring-s.. [+] Siberian tick-borne encephalitis; Russian spring-summer encephalitis; west-Siberian encephalitis; Western European tick-borne encephalitis; Central European encephalitis; Taiga encephalitis; Far Eastern TBE [-]	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. [-]
multiple endocrine neoplasia type 2A	Sipple syndrome; multiple endocrine neoplasia II; .. [+] Sipple syndrome; multiple endocrine neoplasia II; MEN2A [-]	A multiple endocrine neoplasia characterized by me..[+] A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. [-]
mucosulfatidosis	Sulfatidosis, Juvenile, Austin Type; multiple sulf.. [+] Sulfatidosis, Juvenile, Austin Type; multiple sulfatase deficiency disease [-]	A sphingolipidosis that is characterized by leukod..[+] A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. [-]
Brugada syndrome	SUNDS; sudden unexplained nocturnal death syndrome.. [+] SUNDS; sudden unexplained nocturnal death syndrome; Brugada type idiopathic ventricular fibrillation; Pokkuri death syndrome; Dream disease; Bangungut [-]	A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. [-]	4 articles
Buruli ulcer disease	Searle's ulcer; Searl ulcer; Bairnsdale ulcer; Dai.. [+] Searl ulcer; Searle's ulcer; Bairnsdale ulcer; Daintree ulcer; Mossman 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	Spherophakia Brachymorphia Syndrome; congenital me.. [+] Spherophakia Brachymorphia Syndrome; congenital mesodermal dystrophy; Mesodermal Dysmorphodystrophy, Congenital; GEMSS syndrome; Marchesani-Weill 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. [-]
epidemic typhus	sylvatic typhus	A typhus that has_material_basis_in Rickettsia pro..[+] A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. [-]
endemic typhus	Shop typhus; cat flea rickettsiosis; fleaborne typ.. [+] Shop typhus; cat flea rickettsiosis; fleaborne typhus; murine typhus; Rat-Flea Typhus; Rickettsia felis spotted fever; 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. [-]
exanthema subitum	Sixth Disease; Roseola Infantum	A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. [-]
adult spinal muscular atrophy	SPINAL MUSCULAR ATROPHY, ADULT FORM; spinal muscul.. [+] SPINAL MUSCULAR ATROPHY, ADULT FORM; spinal muscular atrophy 4; SMA4; SPINAL MUSCULAR ATROPHY, TYPE IV [-]	A spinal muscular atrophy that is characterized by..[+] A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. [-]	1 articles
intermediate spinal muscular atrophy	spinal muscular atrophy type II; SMA2; spinal musc.. [+] SMA2; spinal muscular atrophy type II; spinal muscular atrophy 2; SMA II; MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM; MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE [-]	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. [-]
visceral heterotaxy	situs ambiguus; heterotaxia	A physical disorder characterized by the abnormal ..[+] A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. [-]	34 articles	121 matches
congenital disorder of glycosylation type I	SRD5A3-CDG (CDG-1q); ALG1-CDG (CDG-1k); ALG11-CDG .. [+] SRD5A3-CDG (CDG-1q); 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); MPDU1-CDG (CDG-1f); PMM2-CDG (CDG-1a); RFT1-CDG (CDG-1n); ALG12-CDG (CDG-1g); DOLK-CDG (CDG-1m); MPI-CDG (CDG-1b) [-]	A congenital disorder of glycosylation involve dis..[+] A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. [-]
cranioectodermal dysplasia	Sensenbrenner syndrome; Levin syndrome; cranioecto.. [+] Sensenbrenner syndrome; Levin syndrome; cranioectodermal dysplasia [-]	A syndrome that is characterized by characterized ..[+] A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. [-]	1 articles
tooth agenesis	selective tooth agenesis; hypodontia; oligodontia; .. [+] selective tooth agenesis; hypodontia; oligodontia; familial tooth agenesis [-]	A tooth disease characterized by failure to develo..[+] A tooth disease characterized by failure to develop one or more missing teeth. [-]	1 articles
asphyxiating thoracic dystrophy	short-rib thoracic dysplasia with or without polyd.. [+] short-rib thoracic dysplasia with or without polydactyly; Jeune syndrome; thoracic pelvic phalangeal dystrophy [-]	A bone development disease characterized by skelet..[+] A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. [-]	1 articles
intestinal schistosomiasis	Schistosoma mansoni infectious disease; schistosom.. [+] Schistosoma mansoni infectious disease; schistosomiasis japonica; Schistosoma japonicum infection; Katayama fever [-]	A schistosomiasis that involves parasitic infectio..[+] A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. [-]
paranasal sinus cancer	squamous cell carcinoma of paranasal sinus; adenoi.. [+] squamous cell carcinoma of paranasal sinus; adenoid cystic carcinoma of Accessory sinus; Epidermoid carcinoma of the paranasal sinus; Mucoepidermoid carcinoma of Accessory sinus; paranasal sinus adenocarcinoma; paranasal sinus squamous cell carcinoma; 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. [-]
familial visceral amyloidosis	systemic nonneuropathic amyloidosis; AMYLOIDOSIS, .. [+] systemic nonneuropathic amyloidosis; AMYLOIDOSIS, FAMILIAL RENAL; German type amyloidosis; OSTERTAG TYPE AMYLOIDOSIS [-]	An amyloidosis that is characterized by the abnorm..[+] An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. [-]
anauxetic dysplasia 1	spondylometaepiphyseal dysplasia, Menger type	An anauxetic dysplasia that has_material_basis_in ..[+] An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. [-]
distal arthrogryposis	Sheldon-Hall syndrome; Arthrogryposis Multiplex Co.. [+] Sheldon-Hall syndrome; Arthrogryposis Multiplex Congenita; Freeman-Sheldon syndrome; Freeman-Sheldon syndrome variant [-]	A muscle tissue disease characterized by congenita..[+] A muscle tissue disease characterized by congenital joint contractures of hand and feet. [-]	3 articles
Arts syndrome	syndromic X-linked mental retardation Arts type; s.. [+] syndromic X-linked mental retardation Arts type; syndromic X-linked mental retardation 18; ARTS; fatal X-linked ataxia with deafness and loss of vision; MRXSARTS; Lethal ataxia with deafness and optic atrophy; MRXS18 [-]	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. [-]
alcohol-related neurodevelopmental disorder	static encephalopathy; ARND	A fetal alcohol spectrum disorder that results in ..[+] A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. [-]
Borjeson-Forssman-Lehmann syndrome	syndromic X-linked mental retardation Borjeson-For.. [+] syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type; BORJ; Borjeson syndrome; mental retardation, epilepsy, and endocrine disorder; MRXSBFL; 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. [-]
Brooke-Spiegler syndrome	Spiegler-Brooke Syndrome; SBS; BRSS; BSS; CYLD cut.. [+] SBS; Spiegler-Brooke Syndrome; BRSS; BSS; CYLD cutaneous syndrome [-]	A skin disease that is characterized by the develo..[+] A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. [-]
Armfield syndrome	syndromic X-linked mental retardation Armfield typ.. [+] syndromic X-linked mental retardation Armfield type; Armfield X-linked mental retardation syndrome; mental retardation syndrome, X-linked, Armfield type; MRXSA; 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. [-]
hydrolethalus syndrome	Salonen-Herva-Norio syndrome	A syndrome characterized by mulitple fetal develop..[+] A syndrome characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. [-]	2 articles
cerebral creatine deficiency syndrome 1	SLC6A8 deficiency; CEREBRAL CREATINE DEFICIENCY SY.. [+] SLC6A8 deficiency; CEREBRAL CREATINE DEFICIENCY SYNDROME 1; creatine transporter deficiency [-]	A cerebral creatine deficiency syndrome that is ch..[+] A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. [-]	1 articles
generalized dystonia	symptomatic torsion dystonia; Dystonia 12; dystoni.. [+] symptomatic torsion dystonia; Dystonia 12; dystonia musculorum deformans; familial dystonia; fragments of torsion dystonia; idiopathic familial dystonia; Idiopathic torsion dystonia; dystonia deformans progressiva; idiopathic non-familial dystonia [-]	A dystonia that affects most or all of the body.
cervical dystonia	spasmodic torticollis	A focal dystonia that is characterized by simultan..[+] A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. [-]
Troyer syndrome	SPG20; spastic paraplegia 20; spastic paraplegia t.. [+] spastic paraplegia 20; SPG20; spastic paraplegia type 20; spastic paraplegia 20 (Troyer syndrome); autosomal recessive spastic paraplegia 20; autosomal recessive spastic paraplegia Troyer type; autosomal recessive spastic paraplegia type 20; childhood-onset spastic paraparesis with distal muscle wasting; hereditary spastic paraplegia 20 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. [-]
autosomal recessive spinocerebellar ataxia 10	SCAR10	n_a
X-linked severe combined immunodeficiency	SCID-X1; thymic epithelial hypoplasia; XSCID; X-Li.. [+] SCID-X1; thymic epithelial hypoplasia; XSCID; X-Linked Severe Combined Immunodeficiency; gamma chain deficiency [-]	A severe combined immunodeficiency that is a X-lin..[+] A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. [-]
musculoskeletal system cancer	skeletal system cancer	An organ system cancer located_in the muscular and..[+] An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. [-]	8 articles	8 matches

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