| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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steatotic liver disease
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hepatic lipidosis; hepatic steatosis; alcoholic fa..
[+]
hepatic steatosis; hepatic lipidosis; alcoholic fatty liver; Fatty change of liver; Steatosis of liver (disorder); Steatosis of liver; cryptogenic steatotic liver disease; fatty liver disease; SLD
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A lipid storage disease characterized by the accum.. [+]A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
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3 articles
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nail-patella syndrome
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hereditary onychoostedysplasia; Fong disease; Turn..
[+]
hereditary onychoostedysplasia; Fong disease; Turner-Kiser syndrome; nail patella syndrome; iliac horn syndrome
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A syndrome characterized by nail dysplasia and abs.. [+]A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3.
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dextrocardia
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Heart predominantly in right hemithorax
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n_a
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median arcuate ligament syndrome
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Harjola-Marable syndrome; Celiac artery compressio..
[+]
Harjola-Marable syndrome; Celiac artery compression syndrome; Marable's syndrome
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n_a
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carotenemia
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hypercarotinemia
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An acquired metabolic disease that is characterize.. [+]An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood.
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sensorineural hearing loss
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High Frequency Hearing Loss; high-frequency hearin..
[+]
High Frequency Hearing Loss; high-frequency hearing loss; High frequency deafness; central hearing loss; Perceptive hearing loss; Perceptive hearing loss or deafness; Sensory hearing loss; Perceptive deafness; Sensorineural Deafness
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An inner ear disease that is characterized by hear.. [+]An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.
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4 articles
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ehrlichiosis
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human ehrlichiosis
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A primary bacterial infectious disease that result.. [+]A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.
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prostate cancer
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hereditary prostate cancer; malignant tumor of the..
[+]
hereditary prostate cancer; malignant tumor of the prostate; NGP - new growth of prostate; prostatic cancer; prostatic neoplasm; prostate cancer, familial; prostate neoplasm; tumor of the prostate
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A male reproductive organ cancer that is located_i.. [+]A male reproductive organ cancer that is located_in the prostate.
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7 articles
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secondary hypertrophic osteoarthropathy
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hypertrophic pulmonary osteoarthropathy (disorder)..
[+]
hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous]; hypertrophic pulmonary osteoarthropathy (disorder); hypertrophic pulmonary osteoarthropathy; HPOA - hypertrophic pulmonary osteoarthropathy; Marie Bamberger disease; Bamberger-Marie disease
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n_a
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Refsum disease
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Heredopathia atactica polyneuritiformis; HSMN IV; ..
[+]
HSMN IV; Heredopathia atactica polyneuritiformis; HMSN type IV; Refsum's disease; adult Refsum disease; classic Refsum disease; phytanic acid oxidase deficiency
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A lipid metabolic disorder that is characterized b.. [+]A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.
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pre-eclampsia
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hypertension induced by pregnancy; gestational hyp..
[+]
hypertension induced by pregnancy; gestational hypertension; pre-eclamptic toxaemia; preeclampsia/eclampsia; pregnancy toxemia; toxaemia of pregnancy; pregnancy associated hypertension; preeclampsia; proteinuric hypertension of pregnancy
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A hypertension occurring during pregnancy characte.. [+]A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
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1 articles
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sickle cell anemia
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Hb-SS disease without crisis; Hemoglobin S disease..
[+]
Hb-SS disease without crisis; Hemoglobin S disease without crisis; haemoglobin SC disease; Hb SC disease; hemoglobin SC disease; Hemoglobin S disease without crisis (disorder); Hb-S/Hb-C disease; sickle cell anaemia; drepanocytosis; Sickle-cell/Hb-C disease without crisis
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A blood protein disease that is characterized by l.. [+]A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
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1 articles
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spastic hemiplegia
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hemiplegic cerebral palsy; Hemiplegic cerebral pal..
[+]
hemiplegic cerebral palsy; Hemiplegic cerebral palsy; Hemiplegic infantile cerebral palsy; spastic hemiplegic cerebral palsy; Congenital hemiplegia
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A spastic cerebral palsy that affects one side of .. [+]A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally.
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Alport syndrome
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Hereditary Nephritis
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A syndrome disease that is characterized by glomer.. [+]A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
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leech infestation
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Hirudiniasis; Leech infestation (disorder); Leech ..
[+]
Hirudiniasis; Leech infestation (disorder); Leech infestation; Leeches
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A parasitic ectoparasitic infectious disease that .. [+]A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream.
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trench fever
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His-Werner disease; Quintan fever; Trench fever; t..
[+]
His-Werner disease; Quintan fever; Trench fever; tibialgic fever; shin bone fever; Wolhynian fever
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A primary bacterial infectious disease that result.. [+]A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back.
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typhus
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Hospital fever; Classical typhus (fever); endemic ..
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Hospital fever; Classical typhus (fever); endemic flea-borne typhus; Endemic Typhus fever; Epidemic (louse-borne) typhus; Exanthematic Typhus fever; Exanthematous typhus; Flea-borne rickettsiosis; Louse-borne [epidemic] typhus; Louse-borne typhus; Murine typhus; Rat flea typhus; Shop typhus; Typhus fever; European typhus; Famine fever; Mexican typhus; Ship fever; Urban typhus; Classical typhus; epidemic louse-borne typhus; Flea typhus; Jail fever; Murine [endemic] typhus; Prison fever; Typhus exanthematique; Epidemic louse-borne typhus fever due to Rickettsia prowazekii; Flea-borne typhus; Louse-borne rickettsiosis; Moscow typhus; Petechial fever
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A primary bacterial infectious disease that refers.. [+]A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites.
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ventilation pneumonitis
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Humidifier lung; Air-conditioner and humidifier lu..
[+]
Humidifier lung; Air-conditioner and humidifier lung
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An extrinsic allergic alveolitis caused by inhalat.. [+]An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.
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Lemierre's syndrome
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human necrobacillosis; Lemierre syndrome; postangi..
[+]
human necrobacillosis; Lemierre syndrome; postanginal sepsis; acute sore throat
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A commensal bacterial infectious disease that is c.. [+]A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling.
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Budd-Chiari syndrome
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hepatic vein thrombosis
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A hepatic vascular disease that is characterized b.. [+]A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.
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benign hypertensive renal disease
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hypertensive renal disease, benign; hypertensive r..
[+]
hypertensive renal disease, benign; hypertensive renal disease, benign, without mention of renal failure; benign hypertensive renal disease (disorder)
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n_a
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Adie syndrome
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Holmes-Adie syndrome; Adie's pupil or syndrome; Ad..
[+]
Holmes-Adie syndrome; Adie's pupil or syndrome; Adie's syndrome; Adie's pupil syndrome
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A syndrome that is a neurological disorder affecti.. [+]A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.
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Riley-Day syndrome
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HSAN III; familial dysautonomia; familial autonomi..
[+]
HSAN III; familial dysautonomia; familial autonomic nervous dysfunction
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A hereditary sensory neuropathy that is characteri.. [+]A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31.
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bulimia nervosa
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hyperorexia nervosa
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An eating disorder characterized by the restrainin.. [+]An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem.
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factor VIII deficiency
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Hemophilia A; Subhemophilia; Congenital factor VII..
[+]
Hemophilia A; Subhemophilia; Congenital factor VIII disorder; classic hemophilia A
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A blood coagulation disease that has_material_basi.. [+]A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
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low compliance bladder
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hypertonic bladder; hypertonicity of bladder; hype..
[+]
hypertonicity of bladder; hypertonic bladder; hyperactivity of bladder; Low bladder compliance
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n_a
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cascade stomach
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Hourglass stricture or stenosis of stomach
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n_a
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Vogt-Koyanagi-Harada disease
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Harada's disease; uveomeningoencephalitic syndrome..
[+]
Harada's disease; uveomeningoencephalitic syndrome; Vogt-Koyanagi-Harada disease (disorder); Vogt-Koyanagi syndrome
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An autoimmune disease that is caused by T helper c.. [+]An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.
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secondary hyperparathyroidism of renal origin
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hyperparathyroidism due to renal insufficiency; se..
[+]
hyperparathyroidism due to renal insufficiency; secondary hyperparathyroidism (of renal origin)
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n_a
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newborn respiratory distress syndrome
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HMD - Hyaline membrane disease; hyaline membrane d..
[+]
HMD - Hyaline membrane disease; hyaline membrane disease; pulmonary hyaline membrane disease; respiratory distress syndrome of newborn; Neonatal respiratory Distress syndrome; pulmonary hypoperfusion syndrome of newborn
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A respiratory failure that is characterized by def.. [+]A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.
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mucopolysaccharidosis II
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Hunter's syndrome; Hunter syndrome; MPS II - Hunte..
[+]
Hunter syndrome; Hunter's syndrome; MPS II - Hunter syndrome; Mucopolysaccharidosis, MPS-II (disorder); Mucopolysaccharidosis, MPS-II; deficiency of iduronate-2-sulphatase
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A mucopolysaccharidosis characterized by a deficie.. [+]A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
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mucopolysaccharidosis III
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heparan sulfate sulfatase deficiency; MPS IIIA - S..
[+]
heparan sulfate sulfatase deficiency; MPS IIIA - Sanfilippo syndrome A; MPS IIIC - Sanfilippo syndrome C; MPS IIID - Sanfilippo syndrome D; mucopolysaccharidosis type IIIA; mucopolysaccharidosis type IIIB; Mucopolysaccharidosis, MPS-III-B; N-acetyl-alpha-D-glucosaminidase deficiency; naglu deficiency; Sanfilippo syndrome A; Sanfilippo syndrome B; MPS IIIB - Sanfilippo syndrome B; N-sulphoglucosamine sulphohydrolase deficiency; Mucopolysaccharidosis, MPS-III; Sanfilippo's syndrome
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A mucopolysaccharidosis characterized by a deficie.. [+]A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
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mucopolysaccharidosis I
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Hurler-Scheie syndrome; Hurler syndrome; iduronida..
[+]
Hurler syndrome; Hurler-Scheie syndrome; iduronidase deficiency disease; Lipochondrodystrophy; Mucopolysaccharidosis, MPS-I (disorder); Mucopolysaccharidosis, type 1; MPS I - Hurler syndrome; Mucopolysaccharidosis, MPS-I
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A mucopolysaccharidosis characterized by a deficie.. [+]A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
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Achilles bursitis
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Haglund's deformity; Haglund's disease; Achilles b..
[+]
Haglund's disease; Haglund's deformity; Achilles bursitis or tendinitis; Capped hock
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n_a
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choreatic disease
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hereditary chorea; chorea
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A movement disease characterized by brief, semi-di.. [+]A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.
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1 articles
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Werdnig-Hoffmann disease
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hereditary motor neuropathy proximal type I; HMN (..
[+]
hereditary motor neuropathy proximal type I; HMN (Hereditary motor Neuropathy) Proximal type I; infantile muscular atrophy; Werdnig-Hoffman disease; SMA1; Spinal muscular atrophy 1; progressive muscular atrophy of infancy
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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 and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.
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porphyria
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Hematoporphyria; disorder of porphyrin and hem met..
[+]
Hematoporphyria; disorder of porphyrin and hem metabolism; disorder of porphyrin metabolism; Porphyrinopathy
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An inherited metabolic disorder that involves cert.. [+]An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
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1 articles
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temporal arteritis
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Horton's disease; Giant cell arteritis (disorder); ..
[+]
Horton's disease; Giant cell arteritis (disorder); Giant cell arteritis NOS (disorder); Temporal arteritis (disorder); giant cell arteritis; Giant cell Arteritis; Giant cell arteritis; Temporal arteritis
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A central nervous system vasculitis that is charac.. [+]A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.
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uveoparotid fever
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Heerfordt's syndrome; Heerfordt's syndrome (disord..
[+]
Heerfordt's syndrome; Heerfordt's syndrome (disorder); Uveoparotid fever
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A sarcoidosis that is characterized by unilateral .. [+]A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve.
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childhood disintegrative disease
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Heller's syndrome; Disintegrative psychosis NOS (d..
[+]
Heller's syndrome; Disintegrative psychosis NOS (disorder); Disintegrative psychosis; Symbiotic psychosis
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A pervasive developmental disorder that is a rare .. [+]A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress.
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Addison's disease
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HYPOADRENOCORTICISM, FAMILIAL; Addison disease, ch..
[+]
HYPOADRENOCORTICISM, FAMILIAL; Addison disease, chronic adrenal insufficiency; primary adrenocortical insufficiency; primary hypoadrenalism; 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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familial combined hyperlipidemia
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hyperbetalipoproteinemia with prebetalipoproteinem..
[+]
hyperbetalipoproteinemia with prebetalipoproteinemia; familial combined hyperlipidemia (disorder); familial combined hyperlipidemia (disorder) [Ambiguous]; familial multiple lipoprotein-type hyperlipidemia (disorder); mixed hyperlipidemia; mixed hyperlipidemia (disorder); familial multiple lipoprotein-type hyperlipidemia; type IIb hyperlipoproteinemia; mixed hyperlipidaemia
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n_a
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familial hypercholesterolemia
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hyperbetalipoproteinemia; familial hyperbetalipopr..
[+]
hyperbetalipoproteinemia; familial hyperbetalipoproteinaemia; Fredrickson type IIa lipidaemia; familial hypercholesteremia; Fredrickson type IIa hyperlipoproteinemia; type II hyperlipidemia
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A familial hyperlipidemia characterized by very hi.. [+]A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
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1 articles
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tetanic cataract
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Hypocalcaemic cataract
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A cataract resulting from hypocalcemia.
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CADASIL
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hereditary multi-infarct dementia; cerebral autoso..
[+]
hereditary multi-infarct dementia; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
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A leukodystrophy characterized by recurrent subcor.. [+]A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.
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1 articles
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Morgagni cataract
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hypermature cataract
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A senile cataract that is characterized by dense w.. [+]A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging.
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blackwater fever
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Hemoglobinuric, malaria; Black water fever (disord..
[+]
Hemoglobinuric, malaria; Black water fever (disorder); Malarial Hemoglobinuria; Black water fever; Blackwater fever
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A malaria that presents as a rare febrile complica.. [+]A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax.
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epicondylitis
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hockey elbow; andrel epicondylitis; archer's elbow..
[+]
hockey elbow; andrel epicondylitis; archer's elbow; golfer's elbow; medial epicondylitis; shooter's elbow; Lateral epicondylitis; tennis elbow
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A bone inflammation disease that results_in inflam.. [+]A bone inflammation disease that results_in inflammation located_in epicondyle.
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familial lipoprotein lipase deficiency
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hyperchylomicronemia; hypercholesterinaemic xantho..
[+]
hyperchylomicronemia; hypercholesterinaemic xanthomatosis; familial hyperchylomicronemia (disorder); familial hyperlipoproteinemia type I; familial lipoprotein lipase deficiency (disorder) [Ambiguous]; familial lipoprotein lipase deficiency with type I phenotype; Fredrickson type I hyperlipoproteinemia (disorder); Fredrickson type I lipaemia; familial chylomiconemia syndrome; familial LPL deficiency; Fredrickson type I hyperlipoproteinemia; familial chylomicronemia syndrome; mixed hyperglyceridemia
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A familial hyperlipemia characterized by a deficie.. [+]A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.
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bilateral hyperactive labyrinth
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hyperactive labyrinth, bilateral; hyperactive bila..
[+]
hyperactive labyrinth, bilateral; hyperactive bilateral labyrinthine dysfunction; hyperactive bilateral labyrinthine dysfunction (disorder); Bilateral hyperactive labyrinth (disorder); Bilateral hyperactive labyrinth
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n_a
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