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Disease	Synonyms	Description
focal labyrinthitis	Circumscribed labyrinthitis (disorder); Circumscri.. [+] Circumscribed labyrinthitis (disorder); Circumscribed labyrinthitis [-]	A labyrinthitis which is an infectious inflammator..[+] A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. [-]
Tietze's syndrome	Costochondral junction syndrome; Costochondritis; .. [+] Costochondritis; Costochondral junction syndrome; Costalchondritis; Slipping rib syndrome; Tietze syndrome; Tietze's disease [-]	n_a
aorta atresia	Congenital atresia and stenosis of aorta; Atresia .. [+] Congenital atresia and stenosis of aorta; Atresia and stenosis of aorta (disorder) [-]	An aortic disease that is characterized by an abse..[+] An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. [-]
root caries	Cementum caries; Dental caries of root surface; Ro.. [+] Cementum caries; Dental caries of root surface; Root caries [-]	n_a
boutonneuse fever	Conor and Bruch's disease; african tick typhus; Af.. [+] Conor and Bruch's disease; african tick typhus; African tick typhus (disorder); Boutonneuse disease; Kenya fever; kenya tick typhus; Kenyan tick typhus; marseilles fever; Mediterranean spotted fever; Mediterranean tick fever; Rickettsia conorii spotted fever; South African tick-bite fever (disorder) [-]	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. [-]
multiple symmetric lipomatosis	cervical Symmetrical Lipomatosis; Launois-Bensaude.. [+] cervical Symmetrical Lipomatosis; Launois-Bensaude's lipomatosis; LIPODYSTROPHY, CEPHALOTHORACIC; LIPOMATOSIS, FAMILIAL BENIGN CERVICAL; Madelung's neck; Multiple symmetric lipomatosis [-]	n_a
ureterolithiasis	calculus of ureter; Ureteric calculus; Ureteric st.. [+] calculus of ureter; Ureteric calculus; Ureteric stone [-]	n_a
rheumatic congestive heart failure	Congestive rheumatic heart failure (disorder); Rhe.. [+] Congestive rheumatic heart failure (disorder); Rheumatic heart failure; Rheumatic heart failure (congestive) [-]	n_a
hypophosphatasia	childhood hypophosphatasia (disorder); deficiency .. [+] childhood hypophosphatasia (disorder); deficiency of alkaline phosphatase (disorder); deficiency of alkaline phosphatase (disorder) [Ambiguous]; hypophospatasia, childhood [-]	n_a
tracheal calcification	Calcification of trachea	n_a
Down syndrome	Complete trisomy 21 syndrome; Complete trisomy 21 .. [+] Complete trisomy 21 syndrome; Complete trisomy 21 syndrome (disorder); Down's syndrome; Down's syndrome - trisomy 21; Downs syndrome; G Trisomy; trisomy 21 syndrome [-]	A chromosomal disease that is characterized by fla..[+] A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. [-]
oral candidiasis	Candidiasis of mouth; Oral moniliasis; thrush; Thr.. [+] Candidiasis of mouth; Oral moniliasis; thrush; Thrush, oral [-]	A candidiasis that involves fungal infection of th..[+] A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. [-]
neurogenic arthropathy	Charcot's arthropathy; Charcot's joint; Arthropath.. [+] Charcot's joint; Charcot's arthropathy; Arthropathy associated with neurological disorder; Neuropathic arthropathy (& Charcot's) [-]	n_a
LEOPARD syndrome	Cardiocutaneous syndrome; Capute-Rimoin-Konigsmark.. [+] Cardiocutaneous syndrome; Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome; Generalized lentiginosis (disorder); Gorlin syndrome II; Lentiginosis profusa syndrome; LEOPARD syndrome; Moynahan syndrome; Multiple lentigines syndrome (disorder); Progressive cardiomyopathic lentiginosis [-]	n_a
systemic primary carnitine deficiency disease	carnitine uptake defect; carnitine transporter def.. [+] carnitine uptake defect; carnitine transporter deficiency; deficiency of plasma-membrane carnitine transporter; primary carnitine deficiency; renal carnitine transport defect (disorder) [-]	An amino acid metabolic disorder that involves def..[+] An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. [-]
norwegian scabies	Crusted scabies	A scabies that involves infestation of human itch ..[+] A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. [-]
Legg-Calve-Perthes disease	Calve - Perthes' disease; Coxa plana; Juvenile ost.. [+] Coxa plana; Calve - Perthes' disease; Juvenile osteochond-hip/pelvis; juvenile osteochondrosis of hip and pelvis; Juvenile osteochondrosis of hip and/or pelvis (disorder); Legg-Calve-Perthes symptom; osteochondrosis of Legg-Calve-Perthes; Perthe's disease; Perthes disease; Pseudocoxalgia; pseudocoxalgia [-]	An osteochondrosis that results_in death and fract..[+] An osteochondrosis that results_in death and fracture located_in hip joint. [-]
WAGR syndrome	chromosome 11p13 deletion syndrome; 11p partial mo.. [+] chromosome 11p13 deletion syndrome; 11p partial monosomy syndrome (disorder); Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome [-]	A chromosomal deletion syndrome that is a nephrobl..[+] A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. [-]
disease of cellular proliferation	cell process disease; neoplasm	A disease that is characterized by abnormally rapi..[+] A disease that is characterized by abnormally rapid cell division. [-]
thrombocytopenia-absent radius syndrome	chromosome 1q21.1 deletion syndrome; Radial aplasi.. [+] chromosome 1q21.1 deletion syndrome; Radial aplasia-thrombocytopenia syndrome (disorder); Thrombocytopenia with absent radii (TAR) syndrome [-]	n_a
Sotos syndrome	cerebral gigantism	An autosomal recessive disease that occurs rarely ..[+] An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. [-]
hypohidrotic ectodermal dysplasia	Christ-Siemens-Touraine Syndrome; anhidrotic ectod.. [+] Christ-Siemens-Touraine Syndrome; anhidrotic ectodermal dysplasia 3; Ectodermal Dysplasia 1, Anhydrotic; Hypohidrotic X-linked ectodermal dysplasia (disorder) [-]	A monogenic disease that is characterized by malfo..[+] A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). [-]
amodiaquine allergy	Camoquin allergy; Flavoquine allergy	A drug allergy that has_allergic_trigger amodiaqui..[+] A drug allergy that has_allergic_trigger amodiaquine. [-]
Rocky Mountain spotted fever	Choix; So Paulo fever; Brazillian spotted; Exanthe.. [+] Choix; So Paulo fever; Brazillian spotted; Exanthematic typhus of Sao Paulo; Fiebre maculosa; Fiebre manchada; Sao Paulo typhus; 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. [-]
La Crosse encephalitis	California virus encephalitis; California Encephal.. [+] California virus encephalitis; California Encephalitis; Neuroinvasive California encephalitis virus infection [-]	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. [-]
adenoiditis	chronic adenoiditis	An upper respiratory tract disease which involves ..[+] An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing. [-]
idiopathic pulmonary fibrosis	cryptogenic fibrosing alveolitis; FIBROCYSTIC PULM.. [+] cryptogenic fibrosing alveolitis; FIBROCYSTIC PULMONARY DYSPLASIA; IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL [-]	An idiopathic interstitial pneumonia which is a di..[+] An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years. [-]
tick-borne encephalitis	Central European encephalitis; Far Eastern TBE; Ru.. [+] Central European encephalitis; Far Eastern TBE; Russian spring-summer encephalitis; Siberian tick-borne encephalitis; Taiga encephalitis; west-Siberian encephalitis; Western European tick-borne encephalitis [-]	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. [-]
Wolf-Hirschhorn syndrome	chromosome 4p16.3 deletion syndrome; 4p deletion s.. [+] chromosome 4p16.3 deletion syndrome; 4p deletion syndrome; PITT SYNDROME; Pitt-Rogers-Danks Syndrome [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. [-]
Weill-Marchesani syndrome	congenital mesodermal dystrophy; GEMSS syndrome; M.. [+] congenital mesodermal dystrophy; GEMSS syndrome; Marchesani-Weill Syndrome; Mesodermal Dysmorphodystrophy, Congenital; 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. [-]
endemic typhus	cat flea rickettsiosis; fleaborne typhus; murine t.. [+] cat flea rickettsiosis; fleaborne typhus; murine 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. [-]
posterior polar cataract	CATARACT, POSTERIOR POLAR	n_a
hereditary sensory neuropathy	congenital insensitivity to pain; familial dysauto.. [+] congenital insensitivity to pain; familial dysautonomia, type II; hereditary sensory and autonomic neuropathy [-]	A neuropathy characterized by congenital insensiti..[+] A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. [-]
Walker-Warburg syndrome	cerebroocular dysplasia-muscular dystrophy syndrom.. [+] cerebroocular dysplasia-muscular dystrophy syndrome; HARD syndrome [-]	n_a
Sensenbrenner syndrome	cranioectodermal dysplasia; Levin syndrome	n_a
muscular dystrophy-dystroglycanopathy type B1	CMD due to dystroglycanopathy; Muscular dystrophy-.. [+] CMD due to dystroglycanopathy; Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 [-]	A congenital muscular dystrophy characterized by m..[+] A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. [-]
Aicardi-Goutieres syndrome	Cree encephalitis	An autosomal recessive disease that is a genetical..[+] An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. [-]
transthyretin amyloidosis	Corino de Andrade's disease; Amyloidosis, heredita.. [+] Corino de Andrade's disease; Amyloidosis, hereditary, transthyretin-related; familial amyloid polyneuropathy; Familial transthyretin amyloidosis; transthyretin-related hereditary amyloidosis; TTR amyloidosis [-]	An amyloidosis that is characterized by a loss of ..[+] An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. [-]
Bannayan-Riley-Ruvalcaba syndrome	Cowden syndrome 1; BANNAYAN-ZONANA SYNDROME; RILEY.. [+] Cowden syndrome 1; BANNAYAN-ZONANA SYNDROME; RILEY-SMITH SYNDROME; RUVALCABA-MYHRE-SMITH SYNDROME; Bannayan-Zonana syndrome; Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome [-]	A Cowden syndrome that is characterized by macroce..[+] A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. [-]
AGAT deficiency	CEREBRAL CREATINE DEFICIENCY SYNDROME 3; arginine:.. [+] CEREBRAL CREATINE DEFICIENCY SYNDROME 3; arginine:glycine amidinotransferase deficiency [-]	An amino acid metabolic disorder that has_material..[+] An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. [-]
fatal infantile encephalocardiomyopathy	cardioencephalomyopathy, fatal infantile, due to c.. [+] cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; fatal infantile COX deficiency [-]	A mitochondrial metabolism disease that has_materi..[+] A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase. [-]
methylmalonic aciduria and homocystinuria type cblC	Cobalamin C deficiency	A methylmalonic acidemia that has_material_basis_i..[+] A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. [-]
methylmalonic aciduria and homocystinuria type cblD	Cobalamin D deficiency	A methylmalonic aciduria that is characterized by ..[+] A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. [-]
methylmalonic aciduria and homocystinuria type cblF	Cobalamin F deficiency	A methylmalonic acidemia that is characterized by ..[+] A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). [-]
neutral lipid storage disease	Chanarin-Dorfman syndrome	A lipid storage disease that is characterized by a..[+] A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. [-]
vitamin B12 deficiency	cobalamin deficiency; hypocobalaminemia	A vitamin metabolic disorder that results from low..[+] A vitamin metabolic disorder that results from low blood levels of vitamin B12. [-]
paraganglioma	chemodectoma	n_a
proximal symphalangism	Cushing's symphalangism	An autosomal dominant disease that is characterize..[+] An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. [-]
multiple cutaneous and mucosal venous malformations	cutaneomucosal venous malformation; mucocutaneous .. [+] cutaneomucosal venous malformation; mucocutaneous venous malformations; VMCM [-]	A vein disease that is characterized by multiple b..[+] A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. [-]
guanidinoacetate methyltransferase deficiency	Cerebral creatine deficiency syndrome 2; CEREBRAL .. [+] Cerebral creatine deficiency syndrome 2; CEREBRAL CREATINE DEFICIENCY SYNDROME 2; GAMT deficiency [-]	A cerebral creatine deficiency syndrome that is ch..[+] A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. [-]

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