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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
uterine fibroid
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Plexiform leiomyoma; uterine leiomyoma; UTERUS FIB..
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Plexiform leiomyoma; uterine leiomyoma; UTERUS FIBROMA; leiomyoma of Corpus Uteri
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An uterine benign neoplasm derived from the smooth.. [+]
An uterine benign neoplasm derived from the smooth muscle layer of the uterus.
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erythropoietic protoporphyria
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Protoporphyria; EPP (erythropoietic protoporphyria..
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Protoporphyria; EPP (erythropoietic protoporphyria porphyria); Erythropoietic protoporphyria (disorder); EPP; Erythropoietic protoporphyria
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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.
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Klebsiella pneumonia
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Pneumonia due to Klebsiella pneumoniae (disorder); ..
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Pneumonia due to Klebsiella pneumoniae (disorder); Pneumonia due to Klebsiella pneumoniae
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A bacterial pneumonia involving Klebsiella pneumon.. [+]
A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis.
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Mycoplasma pneumoniae pneumonia
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Pneumonia due to Mycoplasma pneumoniae (disorder); ..
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Pneumonia due to Mycoplasma pneumoniae (disorder); Pneumonia due to Mycoplasma pneumoniae; Pneumonia due to Eaton's agent; cold agglutinin positive pneumonia; Mycoplasmal pneumonia; Mycoplasma pneumonia
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A bacterial pneumonia that is caused by the bacter.. [+]
A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.
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hyperinsulinemic hypoglycemia
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persistent hyperinsulinemia hypoglycemia of infanc..
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persistent hyperinsulinemia hypoglycemia of infancy; Islet cell hyperplasia; nesidioblastosis
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A carbohydrate metabolic disorder that involves lo.. [+]
A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
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fibrodysplasia ossificans progressiva
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progressive ossifying myositis; progressive myosit..
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progressive ossifying myositis; progressive myositis ossificans; Stone Man Syndrome; myositis ossificans progressiva
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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.
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hepatic encephalopathy
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Portal-systemic encephalopathy
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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.
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coccidioidomycosis
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primary extrapulmonary coccidioidomycosis; primary..
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primary extrapulmonary coccidioidomycosis; primary extrapulmonary coccidioidomycosis (disorder)
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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.
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balanitis xerotica obliterans
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Penile Lichen Sclerosus
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A balantitis characterized by white plaques or pat.. [+]
A balantitis characterized by white plaques or patches on genitals.
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interval angle-closure glaucoma
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Prodromal angle closure glaucoma; Intermittent ang..
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Prodromal angle closure glaucoma; Intermittent angle-closure glaucoma; Angle-closure glaucoma, subacute
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A primary angle-closure glaucoma characterized by .. [+]
A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow.
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angle-closure glaucoma
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primary open-angle glaucoma with narrow angles; AC..
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primary open-angle glaucoma with narrow angles; ACG - Angle-closure glaucoma; Angle-closure glaucoma (disorder); Closed angle glaucoma; Angle Closure Glaucoma; Narrow cleft glaucoma; Angle-closure glaucoma
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A glaucoma characterized by closure of the anterio.. [+]
A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.
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eclampsia
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Postpartum eclampsia; Eclampsia in puerperium (dis..
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Postpartum eclampsia; Eclampsia in puerperium (disorder); Eclampsia, postpartum; Eclampsia in puerperium
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A pre-eclampsia characterized by the presence of s.. [+]
A pre-eclampsia characterized by the presence of seizures.
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exfoliation syndrome
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Pseudoexfoliation syndrome; Pseudoexfoliation glau..
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Pseudoexfoliation syndrome; Pseudoexfoliation glaucoma
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A phacogenic glaucoma that is characterized by ope.. [+]
A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.
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Addison's disease
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primary hypoadrenalism; primary adrenocortical ins..
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primary hypoadrenalism; primary adrenocortical insufficiency; Addison disease, chronic adrenal insufficiency; HYPOADRENOCORTICISM, FAMILIAL; Addison disease
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An adrenal cortical hypofunction that is character.. [+]
An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
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inclusion conjunctivitis
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Paratrachoma; adult inclusion conjunctivitis; Chla..
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Paratrachoma; adult inclusion conjunctivitis; Chlamydial conjunctivitis; inclusion blenorrhea; Inclusion blennorrhoea
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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.
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lymphogranuloma venereum
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Poradenitis inguinale; Durand-Nicolas-Favre diseas..
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Poradenitis inguinale; Durand-Nicolas-Favre disease; Lymphogranuloma inguinale; Strumous bubo; Climatic or tropical bubo
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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.
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bird fancier's lung
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pigeon breeder's lung; poultry worker's lung; Avia..
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poultry worker's lung; pigeon breeder's lung; Avian hypersensitivity Pneumonitis; bird fancier lung; Bird-fanciers' lung; bird breeder's lung; Bird-fancier's lung
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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.
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red color blindness
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Protanopia; Protan defect
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n_a
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somatization disorder
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Polysomatising disorder; Briquet's disorder; Somat..
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Polysomatising disorder; Briquet's disorder; Somatisation disorder
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A somatoform disorder that involves persistently c.. [+]
A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin.
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alcoholic liver cirrhosis
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Portal cirrhosis; Alcoholic Cirrhosis; Laennec's c..
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Portal cirrhosis; Alcoholic Cirrhosis; Laennec's cirrhosis; Alcoholic cirrhosis of liver; Laennec's cirrhosis, alcoholic
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n_a
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malignant parietal pleura tumor
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primary malignant neoplasm of parietal pleura; pri..
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primary malignant neoplasm of parietal pleura; primary malignant neoplasm of parietal pleura (disorder)
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n_a
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malignant visceral pleura tumor
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primary malignant neoplasm of visceral pleura; pri..
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primary malignant neoplasm of visceral pleura; primary malignant neoplasm of visceral pleura (disorder)
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n_a
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acute poststreptococcal glomerulonephritis
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Post-Streptococcal Glomerulonephritis
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n_a
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median rhomboid glossitis
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Persistent tuberculum impar; Persistent tuberculum..
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Persistent tuberculum impar; Persistent tuberculum impar (disorder)
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n_a
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Noonan syndrome with multiple lentigines
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Progressive cardiomyopathic lentiginosis; Generali..
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Progressive cardiomyopathic lentiginosis; Generalized lentiginosis (disorder); Gorlin syndrome II; Lentiginosis profusa syndrome; LEOPARD syndrome; Moynahan syndrome; Cardiocutaneous syndrome; Multiple lentigines syndrome (disorder); Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome; Noonan syndrome with multiple lentigines; Generalized lentiginosis; Multiple lentigines syndrome
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A RASopathy that is characterized by autosomal dom.. [+]
A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
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1 articles
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systemic primary carnitine deficiency disease
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primary carnitine deficiency; carnitine transporte..
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primary carnitine deficiency; carnitine transporter deficiency; carnitine uptake defect; deficiency of plasma-membrane carnitine transporter; renal carnitine transport defect (disorder); renal carnitine transport defect
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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.
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Legg-Calve-Perthes disease
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Perthes disease; pseudocoxalgia; Pseudocoxalgia; P..
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Pseudocoxalgia; pseudocoxalgia; Perthes disease; Perthe's 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; Coxa plana; Calve - Perthes' disease; Juvenile osteochondrosis of hip and/or pelvis
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An osteochondrosis that results_in death and fract.. [+]
An osteochondrosis that results_in death and fracture located_in hip joint.
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46,XY sex reversal
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Pure gonadal dysgenesis 46,XY; 46,XY SEX REVERSAL; ..
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Pure gonadal dysgenesis 46,XY; 46,XY SEX REVERSAL; Swyer syndrome; 46 XY gonadal dysgenesis
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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.
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hypokalemic periodic paralysis
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Periodic paralysis I; periodic hypokalemic paralys..
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Periodic paralysis I; periodic hypokalemic paralysis; familial hypokalemic periodic paralysis (disorder); familial periodic paralysis (& [hypokalaemic]); Hypokalemic familial periodic paralysis; Hypokalemic periodic paralysis (disorder); familial hypokalemic periodic paralysis; familial periodic paralysis; Hypokalemic periodic paralysis; Westphal disease
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n_a
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5 articles
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cholesterol ester storage disease
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partial lysosomal acid lipase deficiency; partial ..
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partial lysosomal acid lipase deficiency; partial LIPA deficiency; partial LAL deficiency; partial cholesterol ester hydrolase deficiency; CESD
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A lysosomal acid lipase deficiency characterized b.. [+]
A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen.
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beta-ketothiolase deficiency
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peroxisomal thiolase deficiency; peroxisomal thiol..
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peroxisomal thiolase deficiency; peroxisomal thiolase deficiency (disorder); 2-methyl-3-hydroxybutyricacidemia; Mitochondrial acetoacetyl-CoA Thiolase deficiency; 3-ketothiolase deficiency; 3-oxothiolase deficiency; alpha-methylacetoaceticaciduria
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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.
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Greig cephalopolysyndactyly syndrome
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polysyndactyly with peculiars skull shape
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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.
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2 articles
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benzylpenicillin allergy
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penicillin G allergy; benzyl benicillin allergy; b..
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penicillin G allergy; benzyl benicillin allergy; benzyl penicillin allergy
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A beta-lactam allergy that has_allergic_trigger be.. [+]
A beta-lactam allergy that has_allergic_trigger benzylpenicillin.
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thiopental allergy
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pentothiobarbital allergy; penthiobarbital allergy..
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pentothiobarbital allergy; penthiobarbital allergy
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A drug allergy that has_allergic_trigger thiopenta.. [+]
A drug allergy that has_allergic_trigger thiopental.
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trimethoprim allergy
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proloprim allergy; Primsol allergy; TMP allergy
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A drug allergy that has_allergic_trigger trimethop.. [+]
A drug allergy that has_allergic_trigger trimethoprim.
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aztreonam allergy
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Primbactam allergy; Azactam allergy
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A beta-lactam allergy that has_allergic_trigger az.. [+]
A beta-lactam allergy that has_allergic_trigger aztreonam.
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ketoprofen photoallergic dermatitis
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photoallergic dermatitis to Orudis
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A photoallergic dermatitis that has_allergic_trigg.. [+]
A photoallergic dermatitis that has_allergic_trigger ketoprofen.
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superficial mycosis
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piedra; Steroid-modified tinea infection
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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.
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inhalation anthrax
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pulmonary anthrax; respiratory anthrax; wool-sorte..
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pulmonary anthrax; respiratory anthrax; wool-sorters' disease; woolsorters' disease
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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.
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bradyopsia
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prolonged electroretinal response suppression
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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.
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Hailey-Hailey disease
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Pemphigus, Benign Familial; BENIGN CHRONIC PEMPHIG..
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Pemphigus, Benign Familial; BENIGN CHRONIC PEMPHIGUS
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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.
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Andersen-Tawil syndrome
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Potassium-Sensitive Cardiodysrhythmic Type; ANDERS..
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Potassium-Sensitive Cardiodysrhythmic Type; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; ATS; Long QT syndrome 7; LQT7; Andersen syndrome
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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.
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6 articles
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mulibrey nanism
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PERICARDIAL CONSTRICTION AND GROWTH FAILURE; Perhe..
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PERICARDIAL CONSTRICTION AND GROWTH FAILURE; Perheentupa Syndrome; Muscle-Liver-Brain-Eye Nanism; MUL; Mulibrey growth disorder
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A syndrome that is characterized by global growth .. [+]
A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.
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Danon disease
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PSEUDOGLYCOGENOSIS II; ANTOPOL DISEASE
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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.
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Brugada syndrome
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Pokkuri death syndrome; Brugada type idiopathic ve..
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Pokkuri death syndrome; Brugada type idiopathic ventricular fibrillation; sudden unexplained nocturnal death syndrome; Dream disease; Bangungut; SUNDS
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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.
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4 articles
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Wolf-Hirschhorn syndrome
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PITT SYNDROME; Pitt-Rogers-Danks Syndrome; 4p dele..
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Pitt-Rogers-Danks Syndrome; PITT SYNDROME; 4p deletion syndrome; chromosome 4p16.3 deletion syndrome
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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.
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5 articles
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19 matches
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Liddle syndrome
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Pseudoaldosteronism; Liddle's syndrome
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A renal tubular transport disease that is characte.. [+]
A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.
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4 articles
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congenital adrenal insufficiency
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P450scc DEFICIENCY; ADRENAL INSUFFICIENCY, CONGENI..
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P450scc DEFICIENCY; ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE; Adrenal insufficiency, congenital, with 46,XY sex reversal
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An adrenal gland disease that is characterized by .. [+]
An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.
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congenital disorder of glycosylation type I
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PMM2-CDG (CDG-1a); ALG1-CDG (CDG-1k); ALG11-CDG (C..
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PMM2-CDG (CDG-1a); 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); RFT1-CDG (CDG-1n); SRD5A3-CDG (CDG-1q); ALG12-CDG (CDG-1g); DOLK-CDG (CDG-1m); MPI-CDG (CDG-1b)
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A congenital disorder of glycosylation involve dis.. [+]
A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.
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transthyretin amyloidosis
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paramyloidosis; Amyloidosis, hereditary, transthyr..
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paramyloidosis; Amyloidosis, hereditary, transthyretin-related; familial amyloid polyneuropathy; transthyretin-related hereditary amyloidosis; TTR amyloidosis; Familial transthyretin amyloidosis; Corino de Andrade's disease; ATTR amyloidosis; ATTRm amyloidosis
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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.
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