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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
Boucher-Neuhauser syndrome
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ataxia-hypogonadism-choroidal dystrophy syndrome
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A syndrome characterized by spinocerebellar ataxia.. [+]
A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
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benign familial hematuria
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BFH; thin basement membrane nephropathy; thin memb..
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BFH; thin basement membrane nephropathy; thin membrane nephropathy; TMN
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A urinary system disease characterized by the pres.. [+]
A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3.
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Beukes hip dysplasia
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BFHD; Beukes familial hip dysplasia; Beukes type h..
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Beukes familial hip dysplasia; BFHD; Beukes type hip dysplasia; Cilliers-Beighton syndrome; Premature degenerative osteoarthropathy of the hip
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An osteoarthritis characterized by bilateral dysmo.. [+]
An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1.
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branchiootorenal syndrome 1
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BOR1
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A branchiootorenal syndrome that has_material_basi.. [+]
A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3.
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branchiootorenal syndrome 2
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BOR2
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A branchiootorenal syndrome that has_material_basi.. [+]
A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32.
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bilateral optic nerve hypoplasia
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familial bilateral optic nerve hypoplasia; isolate..
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familial bilateral optic nerve hypoplasia; isolated optic nerve hypoplasia/aplasia; ONH
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An optic nerve disease characterized by isolated o.. [+]
An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
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Buschke-Ollendorff syndrome
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BOS; dermatofibrosis lenticularis disseminata with..
[+]
BOS; dermatofibrosis lenticularis disseminata with osteopoikilosis; disseminated dermatofibrosis with osteopoikilosis; osteopathia condensans disseminata; dermatoosteopoikilosis
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A syndrome characterized by multiple subcutaneous .. [+]
A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3.
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Behr syndrome
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BEHRS; Abortive cerebellar ataxia (BEHRS); optic a..
[+]
BEHRS; Abortive cerebellar ataxia (BEHRS); optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; optic atrophy, infantile hereditary, Behr complicated form of
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A nervous system disease characterized by early-on.. [+]
A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
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Bothnian type palmoplantar keratoderma
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diffuse palmoplantar keratoderma, Bothnian type; P..
[+]
diffuse palmoplantar keratoderma, Bothnian type; PPKB
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A nonepidermolytic palmoplantar keratoderma charac.. [+]
A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12.
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Basilicata-Akhtar syndrome
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MRXS36; X-linked syndromic mental retardation 36; ..
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MRXS36; X-linked syndromic mental retardation 36; X-linked syndromic mental retardation Basilicata-Akhtar type
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A syndromic X-linked intellectual disability chara.. [+]
A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2.
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B cell and dendritic cell deficiency
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A combined immunodeficiency characterized by impai.. [+]
A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells.
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BH4-deficient hyperphenylalaninemia B
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GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahyd..
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GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahydrobiopterin-deficient hyperphenylalaninemia B
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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.
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Bosch-Boonstra-Schaaf optic atrophy syndrome
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BBSOAS; optic atrophy-intellectual disability synd..
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BBSOAS; optic atrophy-intellectual disability syndrome
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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.
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brain small vessel disease
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A brain disease characterized by abnormalities in .. [+]
A brain disease characterized by abnormalities in the small blood vessels in the brain.
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brain small vessel disease 2
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BSVD2; porencephaly 2
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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.
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brain small vessel disease 3
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BSVD3
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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.
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hematopoietic system disease
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Blood dyscrasia; Blood disease; Blood dyscrasia NO..
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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
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A disease of anatomical entity that has_material_b.. [+]
A disease of anatomical entity that has_material_basis_in hematopoietic cells.
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34 articles
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5 matches
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intestinal infectious disease
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bacterial enteritis
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An intestinal disease that involves intestinal inf.. [+]
An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites.
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esophageal varix
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Bleeding oesophageal varices; Bleeding esophageal ..
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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
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n_a
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vascular cancer
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Blood vessel tumors; Blood vessel tumor; Blood ves..
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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
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A cardiovascular cancer that is located_in blood v.. [+]
A cardiovascular cancer that is located_in blood vessels.
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exostosis
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bone spur; bony outgrowth; osteophyte; orbital exo..
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bony outgrowth; bone spur; osteophyte; orbital exostosis; swimmer's exostosis
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A hyperostosis that involves formation of new bone.. [+]
A hyperostosis that involves formation of new bone on the surface of preexisting bone.
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1 articles
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hyperostosis
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bone hypertrophy; hypertrophy of bone; hypertrophy..
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bone hypertrophy; hypertrophy of bone; hypertrophy of bone (disorder); hypertrophy of bone (morphologic abnormality)
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A bone remodeling disease that results in an abnor.. [+]
A bone remodeling disease that results in an abnormal growth of located in bone.
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2 articles
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epididymis adenomatoid tumor
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benign Epididymal epithelial Mesothelioma; adenoma..
[+]
benign Epididymal epithelial Mesothelioma; adenomatoid neoplasm of the epididymis
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A male reproductive organ benign neoplasm that is .. [+]
A male reproductive organ benign neoplasm that is located_in the epididymis.
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adenomatoid tumor
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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
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n_a
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holocarboxylase synthetase deficiency
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Biotin-(propionyl-CoA-carboxylase) ligase deficien..
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Biotin-(propionyl-CoA-carboxylase) ligase deficiency; Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder); Multiple carboxylase deficiency - neonatal onset (disorder); Multiple carboxylase deficiency - neonatal onset
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A multiple carboxylase deficiency that involves a .. [+]
A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
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choledochal cyst
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bile duct cyst; biliary cyst; Congenital choledoch..
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biliary cyst; bile duct cyst; Congenital choledochal cyst; Congenital choledochal cyst (disorder)
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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.
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mitral valve prolapse
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Barlow's syndrome; floppy mitral valve; myxomatous..
[+]
Barlow's syndrome; floppy mitral valve; myxomatous mitral valve prolapse; systolic click-murmur syndrome; mitral leaflet syndrome
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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.
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1 articles
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chronic lymphocytic leukemia
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B-cell chronic lymphocytic leukaemia; B-cell chron..
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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
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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.
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pertussis
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bordetella infection; WC - Whooping cough; whoopin..
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bordetella infection; WC - Whooping cough; whooping cough
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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).
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Diamond-Blackfan anemia
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Blackfan - Diamond syndrome; chronic constitutiona..
[+]
Blackfan - Diamond syndrome; chronic constitutional pure red cell anaemia
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A pure red-cell aplasia that is characterized by a.. [+]
A pure red-cell aplasia 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.
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4 articles
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urinary schistosomiasis
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bladder Schistosomiasis; cystitis with bilharziasi..
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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
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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.
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cerebral degeneration
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Brain degeneration
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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.
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8 articles
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4 matches
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geographic tongue
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benign migratory glossitis; Glossitis areata exfol..
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benign migratory glossitis; Glossitis areata exfoliativa; Pityriasis linguae
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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.
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lymphangioma
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benign lymphangioma; benign lymphangioma (morpholo..
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benign lymphangioma; benign lymphangioma (morphologic abnormality); Congenital lymphangioma
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A benign vascular tumor that is composed of dilate.. [+]
A benign vascular tumor that is composed of dilated lymphatic channels.
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supratentorial cancer
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Brain neoplasm, Supratentorial; malignant Supraten..
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Brain neoplasm, Supratentorial; malignant Supratentorial tumor
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A brain cancer that is located in the supratentori.. [+]
A brain cancer that is located in the supratentorial region.
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1 articles
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8 matches
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hyperuricemia
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Blood urate raized; (Blood urate raized) or (hyper..
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Blood urate raized; (Blood urate raized) or (hyperuricemia); uricacidemia
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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.
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3 articles
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Rubinstein-Taybi syndrome
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Broad Thumb-Hallux syndrome; Rubinstein syndrome; ..
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Broad Thumb-Hallux syndrome; Rubinstein syndrome; proximal chromosome 16p13.3 deletion syndrome
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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.
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myotonia congenita
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Batten Turner congenital myopathy; Congenital myot..
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Batten Turner congenital myopathy; Congenital myotonia, autosomal dominant form (disorder); Thomsen disease; Thomsen's disease; Congenital myotonia, autosomal dominant form; Thomsen and Becker disease
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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.
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7 articles
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pneumonic tularemia
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bronchopneumonic tularemia; pulmonary tularemia; p..
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bronchopneumonic tularemia; pulmonary tularemia; pulmonary tularemia [dup] (disorder); Pneumonic tularaemia
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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.
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Glanzmann's thrombasthenia
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BDPLT2; deficiency of platelet fibrinogen receptor..
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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
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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.
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kernicterus
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bilirubin encephalopathy
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A brain disease that is characterized by hyperbili.. [+]
A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.
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nevoid basal cell carcinoma syndrome
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basal cell nevus syndrome; Gorlin syndrome; NBCCS; ..
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basal cell nevus syndrome; Gorlin syndrome; NBCCS
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A syndrome characterized by multiple early-onset b.. [+]
A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.
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hematologic cancer
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blood cancer; Hematologic neoplasm (disorder); Hem..
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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
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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.
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13 articles
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5 matches
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Wolffian duct adenoma
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benign mesonephroma; Mesonephric adenoma; Mesoneph..
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benign mesonephroma; Mesonephric adenoma; Mesonephroma, benign (morphologic abnormality); Wolffian duct adenoma; Mesonephroma, benign
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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.
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ovarian Brenner tumor
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benign ovarian Brenner tumor; benign ovarian Brenn..
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benign ovarian Brenner tumor; benign ovarian Brenner tumour; ovarian Brenner tumour
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An ovarian benign neoplasm that has_material_basis.. [+]
An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary.
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struma ovarii
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benign struma ovarii; Struma ovarii (morphologic a..
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benign struma ovarii; Struma ovarii (morphologic abnormality); Struma ovarii NOS (morphologic abnormality); Struma ovarii
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An ovarian benign neoplasm that is composed either.. [+]
An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue.
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myoepithelioma
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benign myoepithelioma; Myoepithelial adenoma; Myoe..
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benign myoepithelioma; Myoepithelial adenoma; Myoepithelial neoplasm
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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.
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myoma
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benign neoplasm of the Muscle
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A muscle benign neoplasm that is characterized as .. [+]
A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells.
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nodular tenosynovitis
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benign synovioma; benign tumor of Synovium; locali..
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benign tumor of Synovium; benign synovioma; localized Giant cell tumor of Tenosynovium; Synovioma, benign (morphologic abnormality); Synovioma, benign
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n_a
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glycogen storage disease IV
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Branching-transferase deficiency glycogenosis; bra..
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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
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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.
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