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Disease	Synonyms	Description
severe pre-eclampsia	postpartum severe pre-eclampsia; antepartum severe.. [+] postpartum severe pre-eclampsia; antepartum severe pre-eclampsia; Severe pre-eclampsia, with delivery; severe preeclampsia [-]	A pre-eclampsia that has_symptom at least one of t..[+] A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. [-]
Werdnig-Hoffmann disease	progressive muscular atrophy of infancy; hereditar.. [+] progressive muscular atrophy of infancy; hereditary motor neuropathy proximal type I; HMN (Hereditary motor Neuropathy) Proximal type I; infantile muscular atrophy; Werdnig-Hoffman disease; SMA1; Spinal muscular atrophy 1 [-]	A childhood spinal muscular atrophy that is a seve..[+] A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted. [-]
allergic bronchopulmonary aspergillosis	pulmonary aspergillus disease	An aspergillosis that involves an allergic reactio..[+] An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever. [-]
uterine fibroid	Plexiform leiomyoma; leiomyoma of Corpus Uteri; ut.. [+] Plexiform leiomyoma; leiomyoma of Corpus Uteri; uterine leiomyoma; UTERUS FIBROMA [-]	A uterine benign neoplasm derived from the smooth ..[+] A uterine benign neoplasm derived from the smooth muscle layer of the uterus. [-]
erythropoietic protoporphyria	Protoporphyria; EPP (erythropoietic protoporphyria.. [+] Protoporphyria; EPP (erythropoietic protoporphyria porphyria); Erythropoietic protoporphyria (disorder); EPP [-]	An acute porphyria characterized by a deficiency i..[+] An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. [-]
hyperinsulinemic hypoglycemia	persistent hyperinsulinemia hypoglycemia of infanc.. [+] persistent hyperinsulinemia hypoglycemia of infancy; Islet cell hyperplasia; nesidioblastosis [-]	A carbohydrate metabolic disorder that involves lo..[+] A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. [-]
fibrodysplasia ossificans progressiva	progressive ossifying myositis; progressive myosit.. [+] progressive ossifying myositis; progressive myositis ossificans; myositis ossificans progressiva; Stone Man Syndrome [-]	.A connective tissue disease that is characterized..[+] .A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. [-]
hepatic encephalopathy	Portal-systemic encephalopathy	A brain disease that is characterized by loss of b..[+] A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. [-]
coccidioidomycosis	primary extrapulmonary coccidioidomycosis (disorde.. [+] primary extrapulmonary coccidioidomycosis (disorder); primary extrapulmonary coccidioidomycosis [-]	A primary systemic mycosis that results_in systemi..[+] A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. [-]
balanitis xerotica obliterans	Penile Lichen Sclerosus	n_a
interval angle-closure glaucoma	Prodromal angle closure glaucoma; Angle-closure gl.. [+] Prodromal angle closure glaucoma; Angle-closure glaucoma, subacute; Intermittent angle-closure glaucoma [-]	n_a
angle-closure glaucoma	primary open-angle glaucoma with narrow angles; AC.. [+] primary open-angle glaucoma with narrow angles; ACG - Angle-closure glaucoma; Angle Closure Glaucoma; Angle-closure glaucoma (disorder); Closed angle glaucoma; Narrow cleft glaucoma [-]	n_a
eclampsia	Postpartum eclampsia; Eclampsia in puerperium (dis.. [+] Postpartum eclampsia; Eclampsia in puerperium (disorder); Eclampsia, postpartum; Eclampsia in puerperium [-]	A pre-eclampsia characterized by the presence of s..[+] A pre-eclampsia characterized by the presence of seizures. [-]
exfoliation syndrome	Pseudoexfoliation syndrome; Pseudoexfoliation glau.. [+] Pseudoexfoliation syndrome; Pseudoexfoliation glaucoma [-]	n_a
Addison's disease	primary hypoadrenalism; primary adrenocortical ins.. [+] primary hypoadrenalism; primary adrenocortical insufficiency; Addison disease; Addison disease, chronic adrenal insufficiency; HYPOADRENOCORTICISM, FAMILIAL [-]	An adrenal cortical hypofunction that is character..[+] An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. [-]
inclusion conjunctivitis	Paratrachoma; adult inclusion conjunctivitis; Chla.. [+] Paratrachoma; adult inclusion conjunctivitis; Chlamydial conjunctivitis; Inclusion blennorrhoea; inclusion blenorrhea [-]	A commensal bacterial infectious disease that resu..[+] A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. [-]
lymphogranuloma venereum	Poradenitis inguinale; Climatic or tropical bubo; .. [+] Poradenitis inguinale; Climatic or tropical bubo; Durand-Nicolas-Favre disease; Lymphogranuloma inguinale; Strumous 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. [-]
bird fancier's lung	pigeon breeder's lung; poultry worker's lung; Avia.. [+] poultry worker's lung; pigeon breeder's lung; Avian hypersensitivity Pneumonitis; bird breeder's lung; bird fancier lung; Bird-fancier's lung; Bird-fanciers' lung [-]	An extrinsic allergic alveolitis which is caused b..[+] An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. [-]
red color blindness	Protanopia; Protan defect	n_a
somatization disorder	Polysomatising disorder; Briquet's disorder; Somat.. [+] Polysomatising disorder; Briquet's disorder; Somatisation disorder [-]	A somatoform disorder that involves persistently c..[+] A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. [-]
alcoholic liver cirrhosis	Portal cirrhosis; Alcoholic Cirrhosis; Alcoholic c.. [+] Portal cirrhosis; Alcoholic Cirrhosis; Alcoholic cirrhosis of liver; Laennec's cirrhosis; Laennec's cirrhosis, alcoholic [-]	n_a
malignant parietal pleura tumor	primary malignant neoplasm of parietal pleura (dis.. [+] primary malignant neoplasm of parietal pleura (disorder) [-]	n_a
malignant visceral pleura tumor	primary malignant neoplasm of visceral pleura (dis.. [+] primary malignant neoplasm of visceral pleura (disorder) [-]	n_a
acute poststreptococcal glomerulonephritis	Post-Streptococcal Glomerulonephritis	n_a
median rhomboid glossitis	Persistent tuberculum impar (disorder)	n_a
LEOPARD syndrome	Progressive cardiomyopathic lentiginosis; Capute-R.. [+] Progressive cardiomyopathic lentiginosis; Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome; Cardiocutaneous syndrome; Generalized lentiginosis (disorder); Gorlin syndrome II; Lentiginosis profusa syndrome; LEOPARD syndrome; Moynahan syndrome; Multiple lentigines syndrome (disorder) [-]	n_a
systemic primary carnitine deficiency disease	primary carnitine deficiency; carnitine transporte.. [+] primary carnitine deficiency; carnitine transporter deficiency; carnitine uptake defect; deficiency of plasma-membrane carnitine transporter; 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. [-]
Legg-Calve-Perthes disease	Perthes disease; Pseudocoxalgia; pseudocoxalgia; P.. [+] pseudocoxalgia; Pseudocoxalgia; Perthes disease; Perthe's disease; Calve - Perthes' disease; Coxa plana; 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 [-]	An osteochondrosis that results_in death and fract..[+] An osteochondrosis that results_in death and fracture located_in hip joint. [-]
46 XY gonadal dysgenesis	Pure gonadal dysgenesis 46,XY; 46,XY SEX REVERSAL; .. [+] Pure gonadal dysgenesis 46,XY; 46,XY SEX REVERSAL; Swyer syndrome [-]	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. [-]
hypokalemic periodic paralysis	Periodic paralysis I; periodic hypokalemic paralys.. [+] Periodic paralysis I; periodic hypokalemic paralysis; familial hypokalemic periodic paralysis (disorder); familial periodic paralysis (& [hypokalaemic]); Hypokalemic familial periodic paralysis; Hypokalemic periodic paralysis (disorder) [-]	n_a
beta-ketothiolase deficiency	peroxisomal thiolase deficiency; peroxisomal thiol.. [+] peroxisomal thiolase deficiency; peroxisomal thiolase deficiency (disorder); 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; alpha-methylacetoaceticaciduria; Mitochondrial acetoacetyl-CoA 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 vomitting, 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. [-]
Greig cephalopolysyndactyly syndrome	polysyndactyly with peculiars skull shape	An acrocephalosyndactylia that has_material_basis_..[+] An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. [-]
suprofen allergy	Profenal allergy	A drug allergy that has_allergic_trigger suprofen.
trimethoprim allergy	proloprim allergy; Primsol allergy; TMP allergy	A drug allergy that has_allergic_trigger trimethop..[+] A drug allergy that has_allergic_trigger trimethoprim. [-]
aztreonam allergy	Primbactam allergy; Azactam allergy	A beta-lactam allergy that has_allergic_trigger az..[+] A beta-lactam allergy that has_allergic_trigger aztreonam. [-]
ketoprofen photoallergic dermatitis	photoallergic dermatitis to Orudis	A photoallergic dermatitis that has_allergic_trigg..[+] A photoallergic dermatitis that has_allergic_trigger ketoprofen. [-]
superficial mycosis	piedra; Steroid-modified tinea infection	A fungal infectious disease that results_in infect..[+] A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. [-]
inhalation anthrax	pulmonary anthrax; respiratory anthrax; wool-sorte.. [+] pulmonary anthrax; respiratory anthrax; wool-sorters' disease; woolsorters' disease [-]	An anthrax disease that results_in infection locat..[+] An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. [-]
bradyopsia	prolonged electroretinal response suppression	A retinal disease characterized by the slower than..[+] A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. [-]
Hailey-Hailey disease	Pemphigus, Benign Familial; BENIGN CHRONIC PEMPHIG.. [+] Pemphigus, Benign Familial; BENIGN CHRONIC PEMPHIGUS [-]	A pemphigus that is characterized by recurring bli..[+] A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. [-]
Andersen-Tawil syndrome	Potassium-Sensitive Cardiodysrhythmic Type; ANDERS.. [+] Potassium-Sensitive Cardiodysrhythmic Type; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen syndrome; ATS; Long QT syndrome 7; LQT7 [-]	A long QT syndrome that has_material_basis_in auto..[+] A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. [-]
mulibrey nanism	PERICARDIAL CONSTRICTION AND GROWTH FAILURE; Perhe.. [+] PERICARDIAL CONSTRICTION AND GROWTH FAILURE; Perheentupa Syndrome; Muscle-Liver-Brain-Eye Nanism [-]	n_a
Danon disease	PSEUDOGLYCOGENOSIS II; ANTOPOL DISEASE	A lysosomal storage disease that is characterized ..[+] A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. [-]
Brugada syndrome	Pokkuri death syndrome; Bangungut; Brugada type id.. [+] Pokkuri death syndrome; Bangungut; Brugada type idiopathic ventricular fibrillation; Dream disease; sudden unexplained nocturnal death syndrome; SUNDS [-]	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. [-]
Wolf-Hirschhorn syndrome	PITT SYNDROME; Pitt-Rogers-Danks Syndrome; 4p dele.. [+] Pitt-Rogers-Danks Syndrome; PITT SYNDROME; 4p deletion syndrome; chromosome 4p16.3 deletion 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. [-]
Liddle syndrome	Pseudoaldosteronism; Liddle's syndrome	n_a
congenital adrenal insufficiency	P450scc DEFICIENCY; ADRENAL INSUFFICIENCY, CONGENI.. [+] P450scc DEFICIENCY; ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE [-]	n_a
congenital disorder of glycosylation type I	PMM2-CDG (CDG-1a); ALG1-CDG (CDG-1k); ALG11-CDG (C.. [+] PMM2-CDG (CDG-1a); 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); MPDU1-CDG (CDG-1f); MPI-CDG (CDG-1b); 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. [-]
myotonic dystrophy type 2	proximal myotonic myopathy	A myotonic disease that is characterized by myoton..[+] A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. [-]
temtamy preaxial brachydactyly syndrome	PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. [-]

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