| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
BH4-deficient hyperphenylalaninemia B
|
GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahyd..
[+]GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahydrobiopterin-deficient hyperphenylalaninemia B
[-]
|
A tetrahydrobiopterin (BH4)-deficient hyperphenyla.. [+]A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2.
[-]
|
|
|
|
Bosch-Boonstra-Schaaf optic atrophy syndrome
|
BBSOAS; optic atrophy-intellectual disability synd..
[+]
BBSOAS; optic atrophy-intellectual disability syndrome
[-]
|
A syndrome characterized by delayed development, m.. [+]A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15.
[-]
|
|
|
|
brain small vessel disease
|
|
A brain disease characterized by abnormalities in .. [+]A brain disease characterized by abnormalities in the small blood vessels in the brain.
[-]
|
|
|
|
brain small vessel disease 2
|
BSVD2; porencephaly 2
|
A brain small vessel disease characterized by dist.. [+]A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34.
[-]
|
|
|
|
brain small vessel disease 3
|
BSVD3
|
A brain small vessel disease characterized by impa.. [+]A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11.
[-]
|
|
|
|
hematopoietic system disease
|
Blood dyscrasia; Blood disease; Blood dyscrasia NO..
[+]
Blood disease; Blood dyscrasia; Blood dyscrasia NOS; blood disorder; DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS; Hematological disease; disease of haematopoietic system; haematopoietic system disease; disease of hematopoietic system
[-]
|
A disease of anatomical entity that has_material_b.. [+]A disease of anatomical entity that has_material_basis_in hematopoietic cells.
[-]
|
34 articles
|
5 matches
|
|
intestinal infectious disease
|
bacterial enteritis
|
An intestinal disease that involves intestinal inf.. [+]An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites.
[-]
|
|
|
|
esophageal varix
|
Bleeding oesophageal varices; Bleeding esophageal ..
[+]
Bleeding oesophageal varices; Bleeding esophageal varices (disorder); Bleeding esophageal varices; esophageal varices in disease classified elsewhere, with bleeding; esophageal varices with bleeding; esophageal varices without bleeding (disorder); esophageal varices without mention of bleeding; esophageal varices; esophageal varices with bleeding in disease EC (disorder); esophageal varices with bleeding in disease EC; esophageal varices without bleeding
[-]
|
n_a
|
|
|
|
vascular cancer
|
Blood vessel tumors; Blood vessel tumor; Blood ves..
[+]
Blood vessel tumor; Blood vessel tumors; Blood vessel tumors (morphologic abnormality); Blood vessel tumour disorder; Blood vessel tumor (morphologic abnormality); blood vessel neoplasm; Blood Vessel neoplasm; Haemangiomatous tumour; malignant tumor of pulmonary artery; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; renal vein leiomyosarcoma; vascular tissue neoplasm; vascular tumors; pulmonary artery malignant neoplasm; leiomyosarcoma of the renal Vein; pulmonary vein malignant neoplasm; malignant great vessel tumor; neoplasm of great vessel
[-]
|
A cardiovascular cancer that is located_in blood v.. [+]A cardiovascular cancer that is located_in blood vessels.
[-]
|
|
|
|
exostosis
|
bone spur; bony outgrowth; osteophyte; orbital exo..
[+]
bony outgrowth; bone spur; osteophyte; orbital exostosis; swimmer's exostosis
[-]
|
A hyperostosis that involves formation of new bone.. [+]A hyperostosis that involves formation of new bone on the surface of preexisting bone.
[-]
|
1 articles
|
|
|
hyperostosis
|
bone hypertrophy; hypertrophy of bone; hypertrophy..
[+]
bone hypertrophy; hypertrophy of bone; hypertrophy of bone (disorder); hypertrophy of bone (morphologic abnormality)
[-]
|
A bone remodeling disease that results in an abnor.. [+]A bone remodeling disease that results in an abnormal growth of located in bone.
[-]
|
2 articles
|
|
|
epididymis adenomatoid tumor
|
benign Epididymal epithelial Mesothelioma; adenoma..
[+]
benign Epididymal epithelial Mesothelioma; adenomatoid neoplasm of the epididymis
[-]
|
A male reproductive organ benign neoplasm that is .. [+]A male reproductive organ benign neoplasm that is located_in the epididymis.
[-]
|
|
|
|
adenomatoid tumor
|
benign localised epithelial Mesothelioma; benign l..
[+]
benign localised epithelial Mesothelioma; benign localized epithelial Mesothelioma; adenomatoid tumor (morphologic abnormality); adenomatoid tumor NOS (morphologic abnormality); adenomatoid tumour
[-]
|
n_a
|
|
|
|
holocarboxylase synthetase deficiency
|
Biotin-(propionyl-CoA-carboxylase) ligase deficien..
[+]
Biotin-(propionyl-CoA-carboxylase) ligase deficiency; Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder); Multiple carboxylase deficiency - neonatal onset (disorder); Multiple carboxylase deficiency - neonatal onset
[-]
|
A multiple carboxylase deficiency that involves a .. [+]A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
[-]
|
|
|
|
choledochal cyst
|
bile duct cyst; biliary cyst; Congenital choledoch..
[+]
biliary cyst; bile duct cyst; Congenital choledochal cyst; Congenital choledochal cyst (disorder)
[-]
|
A bile duct disease characterized by cystic dilati.. [+]A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts.
[-]
|
|
|
|
mitral valve prolapse
|
Barlow's syndrome; floppy mitral valve; myxomatous..
[+]
Barlow's syndrome; floppy mitral valve; myxomatous mitral valve prolapse; systolic click-murmur syndrome; mitral leaflet syndrome
[-]
|
A mitral valve disease where one or both of the cu.. [+]A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
[-]
|
1 articles
|
|
|
chronic lymphocytic leukemia
|
B-cell chronic lymphocytic leukaemia; B-cell chron..
[+]
B-cell chronic lymphocytic leukaemia; B-cell chronic lymphoid leukemia; B-cell chronic lymphocytic leukemia; chronic lymphatic leukaemia; chronic lymphocytic leukaemia; CLL; lymphoplasmacytic leukaemia; lymphoplasmacytic leukemia; chronic lymphatic leukemia
[-]
|
A lymphocytic leukemia characterized by over produ.. [+]A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
[-]
|
|
|
|
pertussis
|
bordetella infection; WC - Whooping cough; whoopin..
[+]
bordetella infection; WC - Whooping cough; whooping cough
[-]
|
A commensal bacterial infectious disease that resu.. [+]A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop).
[-]
|
|
|
|
Diamond-Blackfan anemia
|
Blackfan - Diamond syndrome; chronic constitutiona..
[+]
Blackfan - Diamond syndrome; chronic constitutional pure red cell anaemia
[-]
|
A congenital hypoplastic anemia that is characteri.. [+]A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
[-]
|
4 articles
|
|
|
urinary schistosomiasis
|
bladder Schistosomiasis; cystitis with bilharziasi..
[+]
bladder Schistosomiasis; cystitis with bilharziasis (disorder); Schistosoma haematobium (& vesical schistosomiasis); Schistosoma hematobium infectious disease; Schistosomiasis due to schistosoma haematobium; Schistosomiasis of bladder; Schistosoma haematobium infection; cystitis with bilharziasis; Schistosoma haematobium; Schistosoma Hematobium Infection; Vesical schistosomiasis
[-]
|
A schistosomiasis that involves parasitic infectio.. [+]A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.
[-]
|
|
|
|
cerebral degeneration
|
Brain degeneration
|
A brain disease that is characterized by loss of s.. [+]A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue.
[-]
|
8 articles
|
4 matches
|
|
geographic tongue
|
benign migratory glossitis; Glossitis areata exfol..
[+]
benign migratory glossitis; Glossitis areata exfoliativa; Pityriasis linguae
[-]
|
An atrophic glossitis that is characterized as an .. [+]An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.
[-]
|
|
|
|
lymphangioma
|
benign lymphangioma; benign lymphangioma (morpholo..
[+]
benign lymphangioma; benign lymphangioma (morphologic abnormality); Congenital lymphangioma
[-]
|
A benign vascular tumor that is composed of dilate.. [+]A benign vascular tumor that is composed of dilated lymphatic channels.
[-]
|
|
|
|
supratentorial cancer
|
Brain neoplasm, Supratentorial; malignant Supraten..
[+]
Brain neoplasm, Supratentorial; malignant Supratentorial tumor
[-]
|
A brain cancer that is located in the supratentori.. [+]A brain cancer that is located in the supratentorial region.
[-]
|
1 articles
|
8 matches
|
|
hyperuricemia
|
Blood urate raized; (Blood urate raized) or (hyper..
[+]
Blood urate raized; (Blood urate raized) or (hyperuricemia); uricacidemia
[-]
|
An acquired metabolic disease that has_material_ba.. [+]An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
[-]
|
3 articles
|
|
|
Rubinstein-Taybi syndrome
|
Broad Thumb-Hallux syndrome; Rubinstein syndrome; ..
[+]
Broad Thumb-Hallux syndrome; Rubinstein syndrome; proximal chromosome 16p13.3 deletion syndrome
[-]
|
A syndrome characterized by short stature, moderat.. [+]A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
[-]
|
|
|
|
myotonia congenita
|
Batten Turner congenital myopathy; Congenital myot..
[+]
Batten Turner congenital myopathy; Congenital myotonia, autosomal dominant form (disorder); Thomsen disease; Thomsen's disease; Congenital myotonia, autosomal dominant form; Thomsen and Becker disease
[-]
|
A muscle tissue disease that is characterized by s.. [+]A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
[-]
|
7 articles
|
|
|
pneumonic tularemia
|
bronchopneumonic tularemia; pulmonary tularemia; p..
[+]
bronchopneumonic tularemia; pulmonary tularemia; pulmonary tularemia [dup] (disorder); Pneumonic tularaemia
[-]
|
A tularemia that is located_in lungs. The bacteria.. [+]A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing.
[-]
|
|
|
|
Glanzmann's thrombasthenia
|
BDPLT2; deficiency of platelet fibrinogen receptor..
[+]
BDPLT2; deficiency of platelet fibrinogen receptor; Glycoprotein IIb/IIIa defect; thrombasthenia of Glanzmann and Naegeli; Thrombocytasthenia; deficiency of glycoprotein complex IIb-IIIa; platelet glycoprotein IIb-IIIa deficiency; deficiency of GP IIb-IIIa complex; Glanzmann thrombasthenia; platelet-type bleeding disorder 2
[-]
|
A blood coagulation disease characterized by autos.. [+]A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
[-]
|
|
|
|
kernicterus
|
bilirubin encephalopathy
|
A brain disease that is characterized by hyperbili.. [+]A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.
[-]
|
|
|
|
nevoid basal cell carcinoma syndrome
|
basal cell nevus syndrome; Gorlin syndrome; NBCCS; ..
[+]
basal cell nevus syndrome; Gorlin syndrome; NBCCS
[-]
|
A syndrome characterized by multiple early-onset b.. [+]A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.
[-]
|
|
|
|
hematologic cancer
|
blood cancer; Hematologic neoplasm (disorder); Hem..
[+]
blood cancer; Hematologic neoplasm (disorder); Hematological tumors; hematopoietic and lymphoid system tumor; hematopoietic cancer; hematopoietic neoplasm (morphologic abnormality); Hematologic malignancy (disorder); malignant hematopoietic neoplasm (morphologic abnormality); Hematologic malignancy; Hematologic neoplasm; hematopoietic neoplasm; hematopoietic tumors; malignant hematopoietic neoplasm
[-]
|
An organ system cancer located in the hematologica.. [+]An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
[-]
|
13 articles
|
5 matches
|
|
Wolffian duct adenoma
|
benign mesonephroma; Mesonephric adenoma; Mesoneph..
[+]
benign mesonephroma; Mesonephric adenoma; Mesonephroma, benign (morphologic abnormality); Wolffian duct adenoma; Mesonephroma, benign
[-]
|
A reproductive organ benign neoplasm that derives_.. [+]A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct.
[-]
|
|
|
|
ovarian Brenner tumor
|
benign ovarian Brenner tumor; benign ovarian Brenn..
[+]
benign ovarian Brenner tumor; benign ovarian Brenner tumour; ovarian Brenner tumour
[-]
|
An ovarian benign neoplasm that has_material_basis.. [+]An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary.
[-]
|
|
|
|
struma ovarii
|
benign struma ovarii; Struma ovarii (morphologic a..
[+]
benign struma ovarii; Struma ovarii (morphologic abnormality); Struma ovarii NOS (morphologic abnormality); Struma ovarii
[-]
|
An ovarian benign neoplasm that is composed either.. [+]An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue.
[-]
|
|
|
|
myoepithelioma
|
benign myoepithelioma; Myoepithelial adenoma; Myoe..
[+]
benign myoepithelioma; Myoepithelial adenoma; Myoepithelial neoplasm
[-]
|
A sweat gland benign neoplasm that is composed_of .. [+]A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland.
[-]
|
|
|
|
myoma
|
benign neoplasm of the Muscle
|
A muscle benign neoplasm that is characterized as .. [+]A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells.
[-]
|
|
|
|
nodular tenosynovitis
|
benign synovioma; benign tumor of Synovium; locali..
[+]
benign tumor of Synovium; benign synovioma; localized Giant cell tumor of Tenosynovium; Synovioma, benign (morphologic abnormality); Synovioma, benign
[-]
|
n_a
|
|
|
|
glycogen storage disease IV
|
Branching-transferase deficiency glycogenosis; bra..
[+]
Branching-transferase deficiency glycogenosis; brancher deficiency glycogenosis; Branching-transferase deficiency glycogenosis (disorder); Amylopectinosis; deficiency of 1,4-alpha-glucan branching enzyme; Glycogen storage disease, type IV (disorder); Glycogen storage disease, type IV; Glycogen storage disease 4
[-]
|
A glycogen storage disease that has_material_basis.. [+]A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.
[-]
|
|
|
|
asthma
|
bronchial hyperreactivity; chronic obstructive ast..
[+]
bronchial hyperreactivity; chronic obstructive asthma; chronic obstructive asthma with acute exacerbation; chronic obstructive asthma with status asthmaticus; Exercise induced asthma; exercise-induced asthma
[-]
|
A bronchial disease that is characterized by chron.. [+]A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
[-]
|
4 articles
|
|
|
prostatic adenoma
|
benign adenoma of prostate (disorder); benign aden..
[+]
benign adenoma of prostate (disorder); benign adenoma of prostate; adenoma of prostate; prostate adenoma; adenoma - prostate
[-]
|
A male reproductive organ benign neoplasm that der.. [+]A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate.
[-]
|
|
|
|
IgA glomerulonephritis
|
Berger's IgA or IgG nephropathy; Focal Glomerulone..
[+]
Berger's IgA or IgG nephropathy; Focal Glomerulonephritis; IGA glomerulonephritis; IgA nephropathy; segmental glomerulonephritis; primary IgA nephropathy
[-]
|
A glomerulonephritis characterized by build up of .. [+]A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
[-]
|
|
|
|
familial mediterranean fever
|
benign paroxysmal peritonitis; FMF
|
An autoimmune disease characterized by recurrent e.. [+]An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
[-]
|
|
|
|
scleredema adultorum
|
Buschke's scleredema
|
A skin disease that is characterized by induration.. [+]A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions.
[-]
|
|
|
|
hypomelanosis of Ito
|
Bloch-Siemans syndrome; Hypomelanosis of Ito; Ito'..
[+]
Bloch-Siemans syndrome; Hypomelanosis of Ito; Ito's nevus; nevus of Ito; Incontinentia pigmenti syndrome; incontinentia pigmenti achromians; Incontinentia pigmenti achromians syndrome
[-]
|
A skin disease that is characterized by distinctiv.. [+]A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).
[-]
|
|
|
|
chronic granulomatous disease
|
Bridges-Good syndrome; Quie syndrome; Congenital d..
[+]
Bridges-Good syndrome; Quie syndrome; Congenital dysphagocytosis; CGD
[-]
|
A phagocyte bactericidal dysfunction characterized.. [+]A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
[-]
|
|
|
|
atopic dermatitis
|
Besnier's prurigo (disorder); Besnier's prurigo; A..
[+]
Besnier's prurigo; Besnier's prurigo (disorder); Allergic (intrinsic) eczema (disorder); allergic dermatitis; Atopic dermatitis (disorder); Atopic dermatitis NOS (disorder); atopic eczema; Atopic neurodermatitis (disorder); Atopic dermatitis; Atopic neurodermatitis
[-]
|
An allergic contact dermatitis that is a chronical.. [+]An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.
[-]
|
1 articles
|
|
|
lipoma
|
benign tumor of Adipose tissue; benign lipomatous ..
[+]
benign tumor of Adipose tissue; benign lipomatous tumor; LIPOMATOSIS, FAMILIAL MULTIPLE; Lipomatous tumor; multiple lipomatosis; tumor of adipose tissue (disorder); Lipomatous neoplasm (morphologic abnormality); tumor of adipose tissue; Lipomatous neoplasm
[-]
|
A cell type benign neoplasm that is composed of li.. [+]A cell type benign neoplasm that is composed of lipocytes.
[-]
|
|
|
|
GM1 gangliosidosis
|
beta-Galactosidase deficiency; Beta-galactosidase ..
[+]
beta-Galactosidase deficiency; Beta-galactosidase deficiency; deficiency of beta-galactosidase (disorder); GM>1< gangliosidosis (disorder); Landing syndrome; GM1 gangliosidosis (disorder); deficiency of beta-galactosidase; gangliosidosis GM1
[-]
|
A gangliosidosis that is characterized by progress.. [+]A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.
[-]
|
|
|
|
osteosarcoma
|
bone tissue neoplasm; osteoid sarcoma; Skeletal sa..
[+]
bone tissue neoplasm; osteoid sarcoma; Skeletal sarcoma; Osteogenic sarcoma
[-]
|
A bone sarcoma that is located_in bone that has_ma.. [+]A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).
[-]
|
|
|
