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Name Description Preferred ID Type ID Score Ancestors Synonyms
Disease A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. BIRNLEX:11013 term ILX:0103313 22188.152 Disposition, Realizable entity, Specifically dependent continuant, Dependent continuant, Continuant
Related disease ILX:0112795 relationship ILX:0112795 154.3103
cardiovascular disease A disease involving the cardiovascular system. MONDO:0004995 term ILX:0764074 153.91542 disorder of cardiovascular system, circulatory system disease, cardiovascular system disease or disorder, disease or disorder of cardiovascular system, disorder of cardiovascular system, cardiovascular disorder, disease of cardiovascular system, cardiovascular disease (CVD), cardiovascular disease, cardiovascular system disease, disease of subdivision of hemolymphoid system
leukemia (disease) A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. ILX:0756654 term ILX:0756654 153.90785 hematopoietic and lymphoid cell neoplasm, hematopoietic and lymphoid system neoplasm leukemia, NOS, leukemia NOS, leukemias, general, leukemias, leukemia, disease, leukemia, leukemia, malignant, blood (leukemia)
osteoblastoma (disease) A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent. MONDO:0018936 term ILX:0765188 153.89006 osteoblastoma, giant osteoid osteoma, ossifying giant cell tumor, osteoblastoma, benign
glioblastoma (disease) The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO) MONDO:0018177 term ILX:0764098 153.87953 gliosarcoma (histologic variant), giant cell glioblastoma (histologic variant), primary glioblastoma multiforme, adult glioblastoma multiforme, grade IV astrocytoma, glioblastoma, grade IV adult astrocytic tumor, glioblastoma multiforme (disease), glioblastoma multiforme, GBM (glioblastoma), grade IV astrocytic tumor, spongioblastoma multiforme, WHO grade IV glioma, GBM, grade IV astrocytic neoplasm
dengue disease Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS). MONDO:0005502 term ILX:0764005 153.86761 hemorrhagic dengue, Thai hemorrhagic fever, Philippine hemorrhagic fever, classical dengue, Singapore hemorrhagic fever, Dengue virus infection, DF, Dengue fever, Dengue, Dengue virus disease or disorder, Dengue virus infectious disease, classic dengue, breakbone fever, Dengue virus caused disease or disorder, break bone fever
eye disease A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. MONDO:0005328 term ILX:0760153 153.85403 disease of eyeball, disorder of eyeball of camera-type eye, disorder of eye proper, disorder of eyeball, disorder of globe, disease of eyeball of camera-type eye, disease of eye, eyeball of camera-type eye disease or disorder, eye disease, eye disorder, eyeball of camera-type eye disease, disorder of eye, disorder of eyeball of camera-type eye, disease or disorder of eyeball of camera-type eye
lymphadenitis (disease) Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process. MONDO:0002052 term ILX:0762520 153.85403 lymph gland infection, chronic adenitis, Inflammation of lymph node, adenitis, lymphadenitis, lymph node inflammation, lymph nodeitis, acute adenitis, chronic lymphadenitis, inflammation of lymph node, acute lymphadenitis
prostatitis (disease) An infectious or non-infectious inflammatory process affecting the prostate gland. MONDO:0005280 term ILX:0763512 153.85403 prostatitis, prostate gland inflammation, inflammation of prostate gland
Kawasaki disease Kawasaki Disease (KD) is one of the leading causes of acquired heart disease in children in the United States. Patients are typically diagnosed clinically through a constellation of clinical signs including conjunctival injection, strawberry tongue, diffuse sole erythema, swelling of hands, and erythema of lips. ILX:0105827 term ILX:0105827 153.83842 Disease, Disposition, Realizable entity, Specifically dependent continuant, Dependent continuant, Continuant KD, Kawasaki's disease, acute febrile MCLS, acute febrile mucocutaneous lymph node syndrome (disorder), acute febrile mucocutaneous lymph node syndrome, Kawasaki syndrome, infantile polyarteritis, Kawasaki's disease, MLNS, infantile polyarteritis nodosa, acute febrile mucocutaneous lymph node syndrome [MCLS], mucocutaneous lymph node syndrome
neoplasm (disease) A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. MONDO:0005070 term ILX:0761223 153.83842 other neoplasm, cell process disease, tumor, disease of cellular proliferation, tumor disease, neoplasia, neoplastic disease, neoplastic growth, neoplasm
autoimmune disease A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). MONDO:0007179 term ILX:0765232 153.82025 autoimmune hypersensitivity disease, hypersensitivity reaction type II disease, autoimmune disorder, disease, autoimmune, autoimmune disease or disorder, autoimmune disease
cystathioninuria (disease) Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. ILX:0753349 term ILX:0753349 153.82025 Array cystathioninuria, cystathione gamma-lyase deficiency syndrome, Cystathione gamma-lyase deficiency syndrome, gamma-cystathionase deficiency, cystathionase deficiency
Darier disease Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies. ILX:0756833 term ILX:0756833 153.82025 other genetic epidermal disease, skin disease DAR, Darier White disease, Darier disease, acral hemorrhagic type, Darier-White disease; dar, Darier disease, segmental, Darier disease, keratosis follicularis, Darier's disease, Darier-White disease
Scheuermann disease A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood. MONDO:0008410 term ILX:0767105 153.82025 spinal Osteochondrosis, Scheuermann juvenile kyphosis, juvenile kyphosis, familial Scheuermann disease, Scheuermann kyphosis, Sherman's disease, juvenile osteochondritis of the spine, juvenile osteochondrosis of Scheurermann, juvenile osteochondrosis of spine, familial Scheuermann juvenile kyphosis, Scheuermann's kyphosis, familial spinal osteochondrosis, Scheuermann disease, Calve's disease, Scheuermann's disease
pineocytoma (disease) Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis. MONDO:0016723 term ILX:0762489 153.79887 pinealocytoma, Pineocytoma (WHO grade I), pineocytoma, benign, benign pinealoma, pineocytoma
Wilson disease Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. MONDO:0010200 term ILX:0766398 153.79887 hepatolenticular Degeneration, WD, Wnd, Wilson's disease, hepatolenticular degeneration, Westphal pseudosclerosis, Westphal-Strumpell syndrome, Wilson disease, cerebral pseudosclerosis
glomerulonephritis (disease) A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. MONDO:0002462 term ILX:0757948 153.77333 bright's disease, glomerular nephritis, nephritis of renal glomerulus, renal glomerulus nephritis, glomerulonephritis
gastroparesis (disease) Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine. ILX:0757054 term ILX:0757054 153.77333 Array gastroparalysis, gastroparesis, gastroparesis syndrome, gastric atonia

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