| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
sigmoid colon cancer
|
Ca sigmoid colon; Ca sigmoid colon (disorder); mal..
[+]
Ca sigmoid colon (disorder); Ca sigmoid colon; malignant tumor of sigmoid colon (disorder); malignant tumor of sigmoid colon
[-]
|
n_a
|
|
|
|
dengue disease
|
classic dengue; classical dengue; breakbone fever; ..
[+]
classical dengue; classic dengue; breakbone fever; Dengue Fever
[-]
|
A viral infectious disease that results_in infecti.. [+]A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding.
[-]
|
|
|
|
primary biliary cirrhosis
|
chronic nonsuppurative destructive cholangitis; ch..
[+]
chronic nonsuppurative destructive cholangitis; cholestatic cirrhosis; biliary liver cirrhosis
[-]
|
A liver cirrhosis characterized by chronic and slo.. [+]A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
[-]
|
|
|
|
hemophilia B
|
Congenital factor IX disorder; Congenital factor I..
[+]
Congenital factor IX disorder; Congenital factor IX deficiency; deficiency, functional factor IX; factor IX deficiency
[-]
|
An inherited blood coagulation disease that has_ma.. [+]An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
[-]
|
|
|
|
intrahepatic gall duct cancer
|
Ca intrahepatic bile ducts (disorder); Ca intrahep..
[+]
Ca intrahepatic bile ducts (disorder); Ca intrahepatic bile ducts; malignant neoplasm of intrahepatic bile ducts; malignant neoplasm of intrahepatic bile ducts NOS (disorder); malignant neoplasm of intrahepatic biliary passages; malignant neoplasm of intrahepatic biliary passages (disorder); malignant neoplasm of intrahepatic gall duct (disorder)
[-]
|
n_a
|
|
|
|
Dubin-Johnson syndrome
|
chronic idiopathic jaundice; Dubin Johnson syndrom..
[+]
chronic idiopathic jaundice; Dubin Johnson syndrome
[-]
|
A bilirubin metabolic disorder that involves eleva.. [+]A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.
[-]
|
|
|
|
retroperitoneum carcinoma
|
carcinoma of the retroperitoneum; carcinoma of Ret..
[+]
carcinoma of the retroperitoneum; carcinoma of Retroperitoneum
[-]
|
n_a
|
|
|
|
bronchopneumonia
|
Chest infection - bronchopneumonia; Chest infectio..
[+]
Chest infection - bronchopneumonia; Chest infection - unspecified bronchopneumonia; bronchial pneumonia; lobular pneumonia
[-]
|
A pneumonia involving inflammation of lungs that b.. [+]A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.
[-]
|
|
|
|
neurohypophyseal diabetes insipidus
|
central diabetes insipidus; Pituitary diabetes ins..
[+]
central diabetes insipidus; Pituitary diabetes insipidus; vasopressin defective diabetes insipidus; Vasopressin deficiency
[-]
|
n_a
|
|
|
|
pathological gambling
|
Compulsive gambling; Pathological gambling
|
An impulse control disorder that involves the unco.. [+]An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
[-]
|
|
|
|
hypermobility of coccyx
|
Coccygeal hypermobility syndrome (disorder); hyper..
[+]
Coccygeal hypermobility syndrome (disorder); hypermobility of coccyx (disorder); hypermobility of the coccyx (disorder)
[-]
|
n_a
|
|
|
|
olecranon bursitis
|
Capped elbow; Bursitis of elbow; Bursitis of elbow..
[+]
Capped elbow; Bursitis of elbow; Bursitis of elbow region; Elbow bursitis (& olecranon); Miner's elbow; Miners' elbow; Shoe boil
[-]
|
n_a
|
|
|
|
hypertrophic pyloric stenosis
|
congenital or infantile stricture of pylorus; cong..
[+]
congenital or infantile stricture of pylorus; congenital hypertrophic pyloric stenosis
[-]
|
A pyloric stenosis characterized by the enlargemen.. [+]A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.
[-]
|
|
|
|
displacement of cardia through esophageal hiatus
|
Congenital hiatus hernia (disorder); Congenital hi..
[+]
Congenital hiatus hernia (disorder); Congenital hiatus hernia
[-]
|
n_a
|
|
|
|
blastomycosis
|
Chicago disease; Blastomyces Dermatitidis Infectio..
[+]
Chicago disease; Blastomyces Dermatitidis Infection; Blastomycotic infection; Gilchrist's disease; Infection by Blastomyces dermatitidis; North American blastomycosis
[-]
|
A primary systemic mycosis that results_in a syste.. [+]A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening.
[-]
|
|
|
|
hyperprolactinemia
|
Chiari-Frommel syndrome; hyperprolactinaemia; Preg..
[+]
Chiari-Frommel syndrome; hyperprolactinaemia; Pregnancy-related A-G syndrome (disorder)
[-]
|
An acquired metabolic disease that has_material_ba.. [+]An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.
[-]
|
|
|
|
Ellis-Van Creveld syndrome
|
Chondroectodermal dysplasia (disorder); Chondroect..
[+]
Chondroectodermal dysplasia (disorder); Chondroectodermal dysplasia; Ellis-van Creveld syndrome
[-]
|
n_a
|
|
|
|
intermediate uveitis
|
chronic cyclitis; peripheral uveoretinitis
|
n_a
|
|
|
|
hypercementosis
|
Cementation hyperplasia
|
n_a
|
|
|
|
migraine without aura
|
common migraine
|
A migraine that is characterized by migraine heada.. [+]A migraine that is characterized by migraine headaches that are not accompanied by an aura.
[-]
|
|
|
|
mucopolysaccharidosis IV
|
chondroosteodystrophy; deficiency of chondroitinsu..
[+]
chondroosteodystrophy; deficiency of chondroitinsulphatase; deficiency of N-acetylgalactosamine-6-sulphatase; galactosamine-6-sulfatase deficiency; Morquio A disease; Morquio syndrome A; MPS IV - Morquio syndrome A; MPS IV - Morquio syndrome B; mucopolysaccharidosis type IVA; Mucopolysaccharidosis type IVB; Mucopolysaccharidosis, MPS-IV; Mucopolysaccharidosis, MPS-IV-A (disorder); Osteochondrodystrophy
[-]
|
A mucopolysaccharidosis characterized by a deficie.. [+]A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
[-]
|
|
|
|
autistic disorder
|
childhood autism; autism; autistic disorder of chi..
[+]
childhood autism; autism; autistic disorder of childhood onset; infantile autism; Kanner's syndrome
[-]
|
An autism spectrum disorder that is characterized .. [+]An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
[-]
|
|
|
|
Achilles bursitis
|
Capped hock; Achilles bursitis or tendinitis; Hagl..
[+]
Capped hock; Achilles bursitis or tendinitis; Haglund's deformity; Haglund's disease
[-]
|
n_a
|
|
|
|
dilated cardiomyopathy
|
Congestive cardiomyopathy; Familial dilated cardio..
[+]
Congestive cardiomyopathy; Familial dilated cardiomyopathy; Idiopathic dilation cardiomyopathy; primary dilated cardiomyopathy
[-]
|
An intrinsic cardiomyopathy that is characterized .. [+]An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
[-]
|
|
|
|
hereditary spherocytosis
|
Congenital spherocytic hemolytic anemia; Minkowski..
[+]
Congenital spherocytic hemolytic anemia; Minkowski Chauffard syndrome; spherocytic anemia
[-]
|
A congenital hemolytic anemia characterized by the.. [+]A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
[-]
|
|
|
|
lobomycosis
|
Cutaneous lobomycosis; Cutaneous lobomycosis (diso..
[+]
Cutaneous lobomycosis; Cutaneous lobomycosis (disorder); Cutaneous blastomycosis; infection by Loboa loboi
[-]
|
A dermatomycosis that results in infection located.. [+]A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions.
[-]
|
|
|
|
persistent fetal circulation syndrome
|
congenital alveolar capillary dysplasia with misal..
[+]
congenital alveolar capillary dysplasia with misalignment of pulmonary veins; Fetal circulation; Persistent fetal circulation; Persistent fetal circulation (disorder); Persistent fetal circulation syndrome (disorder); persistent pulmonary hypertension of the newborn; Persistent pulmonary hypertension of the newborn (disorder)
[-]
|
n_a
|
|
|
|
tinea unguium
|
cellulitis and abscess of upper arm and forearm; c..
[+]
cellulitis and abscess of upper arm and forearm; cellulitis and abscess of trunk; cellulitis and abscess of gluteal region; cellulitis and abscess of finger and toe; cellulitis and abscess of finger; cellulitis and abscess of face; cellulitis and abscess of buttock; cellulitis and abscess; Dermatophytic onychia; dermatophytic onychomycosis; Dermatophytosis of nail; Onychomycosis due to dermatophyte; Tinea unguium
[-]
|
A dermatophytosis that results_in fungal infection.. [+]A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved.
[-]
|
|
|
|
esophageal candidiasis
|
Candidiasis of the esophagus (disorder); Candidal ..
[+]
Candidiasis of the esophagus (disorder); Candidal esophagitis; Candida Esophagitis; esophageal moniliasis; esophageal thrush
[-]
|
A candidiasis that involves fungal infection of th.. [+]A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain.
[-]
|
|
|
|
diverticulitis of colon
|
colonic diverticular disease
|
A colonic disease characterized by the formation a.. [+]A colonic disease characterized by the formation and inflammation of diverticula within the colon wall.
[-]
|
|
|
|
hereditary coproporphyria
|
Coproporphyrinogen oxidase deficiency; Hereditary ..
[+]
Coproporphyrinogen oxidase deficiency; Hereditary coproporphyria; Hereditary coproporphyria (disorder); hereditary coproporphyria porphyria
[-]
|
n_a
|
|
|
|
diabetic cataract
|
Cataract - diabetic
|
n_a
|
|
|
|
Ehlers-Danlos syndrome
|
Cutis hyperelastica; elastic skin
|
A collagen disease that is characterized by extrem.. [+]A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
[-]
|
|
|
|
scrub typhus
|
Chigger-borne rickettsiosis; Chigger-borne typhus; ..
[+]
Chigger-borne typhus; Chigger-borne rickettsiosis; Japanese river fever; Kedani fever; Mite-borne rickettsiosis; Mite-borne typhus; Scrub (mite-borne) typhus; Scrub mite-borne typhus; Tropical typhus; Tsutsugamushi; Tsutsugamushi disease; Tsutsugamushi fever; Typhus fever due to Rickettsia tsutsugamushi
[-]
|
A typhus that has_material_basis_in Orientia tsuts.. [+]A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy.
[-]
|
|
|
|
labia majora carcinoma
|
carcinoma of labia majora; Labia Majora cancer
|
A vulva carcinoma that is located_in the labia maj.. [+]A vulva carcinoma that is located_in the labia majora.
[-]
|
|
|
|
skin sarcoidosis
|
Cutaneous sarcoidosis (disorder); Cutaneous Sarcoi..
[+]
Cutaneous sarcoidosis (disorder); Cutaneous Sarcoidosis; Cutaneous sarcoid
[-]
|
n_a
|
|
|
|
neurosarcoidosis
|
cerebral sarcoidosis; Cerebral sarcoidosis (disord..
[+]
cerebral sarcoidosis; Cerebral sarcoidosis (disorder); Cerebral Sarcoidosis
[-]
|
A sarcoidosis that is characterized by involvement.. [+]A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system.
[-]
|
|
|
|
supraglottis cancer
|
Ca larynx - supraglottis (disorder); Ca larynx - s..
[+]
Ca larynx - supraglottis (disorder); Ca larynx - supraglottis; malignant neoplasm of extrinsic larynx; malignant neoplasm of supraglottis; malignant Supraglottic tumor; malignant tumor of supraglottis (disorder); supraglottis
[-]
|
n_a
|
|
|
|
active cochleovestibular Meniere's disease
|
Cochleovestibular active Mnire's disease; Cochleov..
[+]
Cochleovestibular active Mnire's disease; Cochleovestibular active Mnire's disease (disorder); active cochleovestibular Meniere disease; active Meniere's disease, cochleovestibular
[-]
|
n_a
|
|
|
|
active cochlear Meniere's disease
|
Cochlear active Mnire's disease (disorder); active..
[+]
Cochlear active Mnire's disease (disorder); active cochlear Meniere disease; active Meniere's disease, cochlear
[-]
|
n_a
|
|
|
|
tuberous sclerosis
|
cerebral sclerosis; Bourneville's disease; Epiloia..
[+]
cerebral sclerosis; Bourneville's disease; Epiloia; Tuberose sclerosis; Tuberous sclerosis; Tuberous sclerosis syndrome (disorder)
[-]
|
n_a
|
|
|
|
angle-closure glaucoma
|
Closed angle glaucoma; ACG - Angle-closure glaucom..
[+]
Closed angle glaucoma; ACG - Angle-closure glaucoma; Angle Closure Glaucoma; Angle-closure glaucoma (disorder); Narrow cleft glaucoma; primary open-angle glaucoma with narrow angles
[-]
|
n_a
|
|
|
|
obstructive jaundice
|
Cholestatic jaundice syndrome (disorder); Cholesta..
[+]
Cholestatic jaundice syndrome (disorder); Cholestatic Jaundice; Obstructive hyperbilirubinemia; Obstructive hyperbilirubinemia (disorder); Obstructive jaundice NOS; Obstructive jaundice NOS (disorder)
[-]
|
n_a
|
|
|
|
biliary atresia
|
Congenital biliary atresia (disorder); Atresia of ..
[+]
Congenital biliary atresia (disorder); Atresia of bile duct; biliary atresia, congenital
[-]
|
A cholestasis characterized by blockage of the duc.. [+]A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
[-]
|
|
|
|
prostate calculus
|
calculus of prostate; Prostatic lithiasis; Prostat..
[+]
calculus of prostate; Prostatic lithiasis; Prostatic stone; Stone of prostate
[-]
|
n_a
|
|
|
|
anodontia
|
Complete absence of teeth; Developmental absence o..
[+]
Complete absence of teeth; Developmental absence of tooth; Total anodontia of permanent and deciduous teeth
[-]
|
n_a
|
|
|
|
nutmeg liver
|
chronic passive congestion of liver (disorder); ch..
[+]
chronic passive congestion of liver (disorder); chronic passive congestion of liver
[-]
|
n_a
|
|
|
|
Pthirus pubis infestation
|
crabs; Infestation by Phthirus pubis (disorder); P..
[+]
crabs; Infestation by Phthirus pubis (disorder); Pediculosis Pubis; Pediculus pubis; Phthiriasis pubis; Phthirus pubis; Phthirus pubis [pubic louse]; Phthirus/pediculus pubis - pubic lice - crabs (& infestation)
[-]
|
A lice infestation that involves parasitic infesta.. [+]A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin.
[-]
|
|
|
|
inclusion conjunctivitis
|
Chlamydial conjunctivitis; adult inclusion conjunc..
[+]
Chlamydial conjunctivitis; adult inclusion conjunctivitis; Inclusion blennorrhoea; inclusion blenorrhea; Paratrachoma
[-]
|
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
|
Climatic or tropical bubo; Durand-Nicolas-Favre di..
[+]
Climatic or tropical bubo; Durand-Nicolas-Favre disease; Lymphogranuloma inguinale; Poradenitis 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.
[-]
|
|
|
