| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
autosomal dominant nonsyndromic deafness 75
|
DFNA75
|
An autosomal dominant nonsyndromic deafness that h.. [+]An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1.
[-]
|
|
|
|
autosomal dominant nonsyndromic deafness 76
|
DFNA76
|
An autosomal dominant nonsyndromic deafness charac.. [+]An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23.
[-]
|
|
|
|
autosomal dominant nonsyndromic deafness 77
|
DFNA77
|
An autosomal dominant nonsyndromic deafness that h.. [+]An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11.
[-]
|
|
|
|
alopecia, neurologic defects, and endocrinopathy syndrome
|
ANE syndrome; ANES; alopecia-progressive neurologi..
[+]
ANES; ANE syndrome; alopecia-progressive neurological defect-endocrinopathy syndrome
[-]
|
A syndrome characterized by alopecia, neurologic d.. [+]A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1.
[-]
|
|
|
|
autosomal dominant spondyloepiphyseal dysplasia tarda
|
|
A spondyloepiphyseal dysplasia tarda that has_mate.. [+]A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13.
[-]
|
|
|
|
axial spondylometaphyseal dysplasia
|
SMD axial; SMDAX
|
A spondylometaphyseal dysplasia characterized by p.. [+]A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3.
[-]
|
|
|
|
alacrima, achalasia, and impaired intellectual development syndrome
|
alacrima, achalasia, and mental retardation syndro..
[+]
alacrima, achalasia, and mental retardation syndrome; AAMR
[-]
|
A congenital disorder of glycosylation characteriz.. [+]A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35.
[-]
|
|
|
|
autosomal dominant auditory neuropathy 3
|
AUNA3
|
An autosomal dominant nonsyndromic deafness charac.. [+]An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1.
[-]
|
|
|
|
lymphatic system disease
|
Adenopathy; disease of lympoid system; disorder of..
[+]
Adenopathy; disease of lympoid system; disorder of lymphatic system; Lymphangiopathy, NOS; Lymphatic disease; Lymphatic disorder; lympoid system disease; disorder of lymph node and lymphatics (disorder); disorder of lymphoid system; Lymphangiopathy; lymphatic disorder; disorder of lymph node and lymphatics
[-]
|
An immune system disease that is located_in the ly.. [+]An immune system disease that is located_in the lymphatic system.
[-]
|
6 articles
|
|
|
gastrointestinal system disease
|
alimentary system disease; digestive system disord..
[+]
alimentary system disease; digestive system disorder; gastrointestinal disorder; GIT disease; Gastroenteropathy; gastrointestinal disease
[-]
|
A disease of anatomical entity that is located_in .. [+]A disease of anatomical entity that is located_in the gastrointestinal tract.
[-]
|
57 articles
|
14 matches
|
|
lateral sclerosis
|
adult-onset primary lateral sclerosis; primary lat..
[+]
adult-onset primary lateral sclerosis; primary lateral sclerosis
[-]
|
A motor neuron disease characterized by painless b.. [+]A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.
[-]
|
|
|
|
colon adenocarcinoma
|
adenocarcinoma of colon; adenocarcinoma of the col..
[+]
adenocarcinoma of colon; adenocarcinoma of the colon; Colonic adenocarcinoma
[-]
|
A colon carcinoma that derives_from epithelial cel.. [+]A colon carcinoma that derives_from epithelial cells of glandular origin.
[-]
|
|
|
|
spleen angiosarcoma
|
angiosarcoma of spleen; angiosarcoma of spleen (di..
[+]
angiosarcoma of spleen; angiosarcoma of spleen (disorder); Splenic hemangiosarcoma
[-]
|
An angiosarcoma and hemangioma of intra-abdominal .. [+]An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen.
[-]
|
|
|
|
liver angiosarcoma
|
angiosarcoma of liver; angiosarcoma of liver (diso..
[+]
angiosarcoma of liver; angiosarcoma of liver (disorder); hemangiosarcoma of the Liver
[-]
|
An angiosarcoma and sarcoma of liver and hemangiom.. [+]An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver.
[-]
|
|
|
|
hemangioma of liver
|
Angioma of Liver; hepatic angioma
|
n_a
|
|
|
|
endometriosis of uterus
|
adenomyosis; Endometriosis of myometrium; uterine ..
[+]
adenomyosis; Endometriosis of myometrium; uterine Adenomyosis; Endometriosis, myometrium; Endometriosis interna
[-]
|
A uterine disease that is characterized by the pre.. [+]A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium.
[-]
|
|
|
|
lacrimal gland adenocarcinoma
|
adenocarcinoma of lacrimal gland
|
A lacrimal gland carcinoma that derives_from epith.. [+]A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin.
[-]
|
|
|
|
peripheral vascular disease
|
arterial occlusive disease
|
A vascular disease that is characterized by obstru.. [+]A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain.
[-]
|
2 articles
|
|
|
olfactory neuroblastoma
|
Asthesioneuroblastoma; Asthesioneuroblastoma (morp..
[+]
Asthesioneuroblastoma; Asthesioneuroblastoma (morphologic abnormality); Esthesioneuroepithelioma (morphologic abnormality); Esthesioneuroepithelioma [dup] (morphologic abnormality); Olfactory Esthesioneuroblastoma; Esthesioneuroblastoma (morphologic abnormality); paranasal sinus Olfactory neuroblastoma; Esthesioneuroepithelioma; Esthesioneuroblastoma
[-]
|
n_a
|
|
|
|
Wolff-Parkinson-White syndrome
|
anomalous atrioventricular excitation; Anomalous A..
[+]
anomalous atrioventricular excitation; Anomalous A-V excitation; Wolff-Parkinson-White pattern (finding); Wolff-Parkinson-White pattern
[-]
|
n_a
|
|
|
|
Bartter disease
|
Aldosteronism with hyperplasia of the adrenal cort..
[+]
Aldosteronism with hyperplasia of the adrenal cortex; Bartter's syndrome
[-]
|
n_a
|
8 articles
|
|
|
skin hemangioma
|
Angiomatous naevus of skin; Angioma of the skin
|
n_a
|
|
|
|
histiocytoid hemangioma
|
Angiolymphoid hyperplasia with eosinophilia; Angio..
[+]
Angiolymphoid hyperplasia with eosinophilia; Angiolymphoid hyperplasia with eosinophilia (disorder); epithelioid haemangioma; epithelioid hemangioma (morphologic abnormality); epithelioid hemangioma
[-]
|
n_a
|
|
|
|
breast hemangioma
|
Angioma of the breast; hemangioma of breast
|
A breast benign neoplasm that is characterized by .. [+]A breast benign neoplasm that is characterized by a collection of excess blood vessels.
[-]
|
|
|
|
toxic pneumonitis
|
acute chemical fume pulmonary edema; acute chemica..
[+]
acute chemical fume pulmonary edema; acute chemical pulmonary edema
[-]
|
A pneumonia that is an acute inflammation of the l.. [+]A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.
[-]
|
|
|
|
pneumonia
|
acute pneumonia
|
A lung disease that involves lung parenchyma or al.. [+]A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
[-]
|
3 articles
|
22 matches
|
|
jaw-winking syndrome
|
abnormal innervation syndrome of eyelid; Jaw-blink..
[+]
abnormal innervation syndrome of eyelid; Jaw-blinking; Marcus-Gunn syndrome; Pterygoid-levator synkinesis
[-]
|
A cranial nerve disease characterized by unilatera.. [+]A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw.
[-]
|
|
|
|
uric acid nephrolithiasis
|
acute urate nephropathy; Uric acid nephrolithiasis..
[+]
acute urate nephropathy; Uric acid nephrolithiasis; Uric acid urolithiasis
[-]
|
A nephrolithiasis that is characterized by stones .. [+]A nephrolithiasis that is characterized by stones composed predominantly uric acid.
[-]
|
|
|
|
hemolytic anemia
|
ANEMIA HEMOLYTIC
|
A normocytic anemia that is characterized by the r.. [+]A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.
[-]
|
1 articles
|
|
|
juvenile rheumatoid arthritis
|
acute juvenile rheumatoid arthritis; monarticular ..
[+]
acute juvenile rheumatoid arthritis; monarticular juvenile rheumatoid arthritis; pauciarticular juvenile arthritis; juvenile idiopathic arthritis; systemic juvenile rheumatoid arthritis; Pauciarticular onset juvenile chronic arthritis; Still's disease; juvenile chronic polyarthritis
[-]
|
A rheumatoid arthritis that involves an autoimmune.. [+]A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.
[-]
|
|
|
|
hepatocellular carcinoma
|
adult primary hepatocellular carcinoma; adult Hepa..
[+]
adult primary hepatocellular carcinoma; adult Hepatoma; HCC; Hepatoma
[-]
|
A liver carcinoma that has_material_basis_in undif.. [+]A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
[-]
|
2 articles
|
|
|
normocytic anemia
|
ANEMIA NORMOCYTIC; Normocytic anemia (disorder); N..
[+]
ANEMIA NORMOCYTIC; Normocytic anemia (disorder); Normocytic normochromic anemia
[-]
|
An anemia that is characterized by circulating red.. [+]An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL.
[-]
|
1 articles
|
|
|
epididymis adenomatoid tumor
|
adenomatoid neoplasm of the epididymis; benign Epi..
[+]
adenomatoid neoplasm of the epididymis; benign Epididymal epithelial Mesothelioma
[-]
|
A male reproductive organ benign neoplasm that is .. [+]A male reproductive organ benign neoplasm that is located_in the epididymis.
[-]
|
|
|
|
peptic ulcer disease
|
acute peptic ulcer without hemorrhage AND without ..
[+]
acute peptic ulcer without hemorrhage AND without perforation; acute peptic ulcer with hemorrhage; acute peptic ulcer without hemorrhage AND without perforation (disorder); acute peptic ulcer without hemorrhage and without perforation; acute peptic ulcer with hemorrhage and perforation
[-]
|
n_a
|
|
|
|
peptic ulcer perforation
|
acute peptic ulcer with perforation; Peptic ulcer ..
[+]
acute peptic ulcer with perforation; Peptic ulcer with perforation (disorder); Perforated peptic ulcer; Unspecified peptic ulcer with perforation (disorder); Peptic ulcer with perforation
[-]
|
n_a
|
|
|
|
muscular atrophy
|
Amyotrophia; Muscle wasting; Wasting - muscle
|
n_a
|
1 articles
|
|
|
periapical periodontitis
|
Apical periodontitis NOS; Apical periodontitis; Ap..
[+]
Apical periodontitis; Apical periodontitis NOS; Apical periodontitis (disorder)
[-]
|
n_a
|
|
|
|
extrinsic allergic alveolitis
|
alveolitis; hypersensitivity pneumonitis
|
An interstitial lung disease involving inflammatio.. [+]An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.
[-]
|
|
|
|
cyclothymic disorder
|
Affective personality disorder; Cyclothymic person..
[+]
Affective personality disorder; Cyclothymic personality; Cyclothymia; Cycloid personality
[-]
|
A bipolar disorder that involves recurrent hypoman.. [+]A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes.
[-]
|
|
|
|
vasculitis
|
Angiitis
|
A vascular disease that is characterized by inflam.. [+]A vascular disease that is characterized by inflammation of the blood vessels.
[-]
|
|
|
|
chronic leukemia
|
adult chronic leukemia; CLL; CML
|
A leukemia that develops slowly.
|
|
|
|
Fanconi syndrome
|
adult Fanconi syndrome; adult Fanconi Anemia; De T..
[+]
adult Fanconi Anemia; adult Fanconi syndrome; De Toni-Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Infantile nephropathic cystinosis; Lignac-Fanconi syndrome; Congenital Fanconi syndrome (disorder); Congenital Fanconi syndrome; deToni Fanconi syndrome
[-]
|
A renal tubular transport disease of the proximal .. [+]A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
[-]
|
2 articles
|
|
|
hemolytic disease of the fetus
|
alloimmune HDFN; (Haemolytic disease due to rhesus..
[+]
alloimmune HDFN; (Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn); erythroblastosis fetalis; EF - Erythroblastosis foetalis; Haemolytic disease due to rhesus isoimmunisation; rhesus isoimmunisation of the newborn; fetal erythroblastosis; Hemolytic disease of the fetus and newborn
[-]
|
A microcytic anemia that is characterized by Rho(D.. [+]A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.
[-]
|
|
|
|
brain cancer
|
adult brain tumor; adult malignant brain neoplasm; ..
[+]
adult malignant brain neoplasm; adult brain tumor; brain neoplasm; malignant brain tumour; malignant primary brain neoplasm; malignant primary brain tumor; neoplasm of brain (disorder); neoplasm of unspecified nature of brain; neoplasm of unspecified nature of brain (disorder); primary brain neoplasm; primary malignant neoplasm of brain (disorder); tumor of the Brain; brain neoplasm, adult; primary brain tumor; BT - Brain tumour; malignant tumor of Brain; neoplasm of brain; primary malignant neoplasm of brain; malignant tumor of adult brain
[-]
|
A central nervous system cancer that is characteri.. [+]A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
[-]
|
9 articles
|
18 matches
|
|
Machado-Joseph disease
|
Azorean disease; MJD; spinocerebellar ataxia 3; sp..
[+]
Azorean disease; MJD; spinocerebellar ataxia 3; spinocerebellar ataxia type 3; SCA3
[-]
|
An autosomal dominant cerebellar ataxia that is ch.. [+]An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
[-]
|
|
|
|
cholesterol embolism
|
atheroembolism; cholesterol crystal embolism; tras..
[+]
atheroembolism; cholesterol crystal embolism; trash foot; warfarin blue toe syndrome; purple toe syndrome
[-]
|
A vascular disease that is characterized by blood .. [+]A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream.
[-]
|
|
|
|
serous labyrinthitis
|
acute serous labyrinthitis; serous labyrinthitis (..
[+]
acute serous labyrinthitis; serous labyrinthitis (disorder)
[-]
|
A labyrinthitits in which bacterial toxins invade .. [+]A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.
[-]
|
|
|
|
rheumatic fever
|
ACUTE RHEUMATIC FEVER; RhF - Rheumatic fever
|
A connective tissue disease that develops from an .. [+]A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.
[-]
|
|
|
|
thrombocytopenia due to platelet alloimmunization
|
Auto-immune thrombocytopenia; Immune thrombocytope..
[+]
Auto-immune thrombocytopenia; Immune thrombocytopenia (disorder); Thrombocytopenia Due to Immune Destruction; Immune thrombocytopenia
[-]
|
n_a
|
|
|
|
lymphadenitis
|
acute adenitis; acute lymphadenitis; Adenitis; chr..
[+]
Adenitis; acute lymphadenitis; acute adenitis; chronic Lymphadenitis; Inflammation of lymph node; chronic adenitis
[-]
|
A lymph node disease that is characterized by an a.. [+]A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes.
[-]
|
1 articles
|
|
