{ "uniprot_canonical_ac": "A0A0G2JWI6-1", "uniprot_ac": "A0A0G2JWI6", "uniprot_id": "A0A0G2JWI6_RAT", "mass": { "chemical_mass": 45622.0, "monoisotopic_mass": 45622.0 }, "refseq": {}, "gene_names": [ { "name": "RT1-CE15", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2JWI6", "id": "A0A0G2JWI6" } ], "protein_names": [ { "name": "RT1 class I, locus CE15", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2JWI6" } ], "function": [], "disease": [ { "disease_id": "DOID:0050426", "recommended_name": { "id": "DOID:0050426", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050426", "name": "Stevens-Johnson syndrome", "description": "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection." }, "synonyms": [ { "id": "MONDO:0018229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018229", "name": "Stevens-Johnson syndrome", "description": "Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area." }, { "id": "MONDO:0018229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018229", "name": "Dermatostomatitis, Stevens Johnson type", "description": "" }, { "id": "MONDO:0018229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018229", "name": "Stevens Johnson syndrome", "description": "" }, { "id": "MONDO:0018229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018229", "name": "Stevens-Johnson syndrome, susceptibility to", "description": "" }, { "id": "MONDO:0018229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018229", "name": "erythema multiforme major", "description": "" }, { "id": "MONDO:0018229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018229", "name": "hypersensitivity syndrome, carbamazepine-induced, susceptibility to", "description": "" }, { "id": "MONDO:0018229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018229", "name": "severe cutaneous adverse reaction, susceptibility to", "description": "" }, { "id": "MONDO:0018229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018229", "name": "toxic Epidermal necrolysis, susceptibility to", "description": "" }, { "id": "MIM:608579", "resource": "MIM", "url": "https://www.omim.org/entry/608579", "name": "Stevens-Johnson syndrome", "description": "Stevens-Johnson syndrome" } ], "evidence": [ { "id": "0050426", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050426" } ] }, { "disease_id": "DOID:0060180", "recommended_name": { "id": "DOID:0060180", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon." }, "synonyms": [], "evidence": [ { "id": "0060180", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ] }, { "disease_id": "DOID:0080160", "recommended_name": { "id": "DOID:0080160", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080160", "name": "Cytomegalovirus retinitis", "description": "A retinitis that has_material_basis_in Cytomegalovirus." }, "synonyms": [ { "id": "DOID:0080160", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080160", "name": "CMV retinitis", "description": "" } ], "evidence": [ { "id": "0080160", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080160" } ] }, { "disease_id": "DOID:0080600", "recommended_name": { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2." }, "synonyms": [ { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019 Novel Coronavirus (2019-nCoV)", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019-nCoV infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan coronavirus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan seafood market pneumonia virus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID19", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "SARS-CoV-2 infection", "description": "" } ], "evidence": [ { "id": "0080600", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ] }, { "disease_id": "DOID:0080750", "recommended_name": { "id": "DOID:0080750", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080750", "name": "erythema nodosum", "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter." }, "synonyms": [], "evidence": [ { "id": "0080750", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080750" } ] }, { "disease_id": "DOID:0080820", "recommended_name": { "id": "DOID:0080820", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080820", "name": "occupational asthma", "description": "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace." }, "synonyms": [], "evidence": [ { "id": "0080820", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080820" } ] }, { "disease_id": "DOID:0111079", "recommended_name": { "id": "DOID:0111079", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111079", "name": "birdshot chorioretinopathy", "description": "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia." }, "synonyms": [ { "id": "DOID:0111079", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111079", "name": "BSCR", "description": "" }, { "id": "DOID:0111079", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111079", "name": "birdshot chorioretinitis", "description": "" }, { "id": "DOID:0111079", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111079", "name": "birdshot retinochoroiditis", "description": "" }, { "id": "DOID:0111079", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111079", "name": "birdshot retinochoroidopathy", "description": "" }, { "id": "DOID:0111079", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111079", "name": "vitiliginous choroiditis", "description": "" }, { "id": "MONDO:0011599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011599", "name": "birdshot chorioretinopathy", "description": "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia." }, { "id": "MONDO:0011599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011599", "name": "BSCR", "description": "" }, { "id": "MONDO:0011599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011599", "name": "birdshot chorioretinitis", "description": "" }, { "id": "MONDO:0011599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011599", "name": "birdshot chorioretinopathy", "description": "" }, { "id": "MONDO:0011599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011599", "name": "birdshot retinochoroiditis", "description": "" }, { "id": "MONDO:0011599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011599", "name": "birdshot retinochoroidopathy", "description": "" }, { "id": "MONDO:0011599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011599", "name": "vitiliginous choroiditis", "description": "" }, { "id": "MONDO:0011599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011599", "name": "Bscr", "description": "" }, { "id": "MONDO:0011599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011599", "name": "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disc", "description": "" }, { "id": "MONDO:0011599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011599", "name": "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk", "description": "" } ], "evidence": [ { "id": "0111079", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111079" } ] }, { "disease_id": "DOID:0111286", "recommended_name": { "id": "DOID:0111286", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111286", "name": "psoriasis 1", "description": "A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33." }, "synonyms": [ { "id": "DOID:0111286", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111286", "name": "PSORS1", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis 1, susceptibility to", "description": "Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene." }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "HLA-C psoriasis", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis 1, susceptibility to", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis caused by mutation in HLA-C", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis susceptibility 1", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "PSORS1", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "susceptibility to psoriasis 1", "description": "" }, { "id": "MIM:177900", "resource": "MIM", "url": "https://www.omim.org/entry/177900", "name": "Psoriasis 1", "description": "Psoriasis 1" } ], "evidence": [ { "id": "0111286", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111286" } ] }, { "disease_id": "DOID:10003", "recommended_name": { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem." }, "synonyms": [ { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "High Frequency Hearing Loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "High frequency deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive hearing loss or deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Sensorineural Deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Sensory hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "central hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "high-frequency hearing loss", "description": "" } ], "evidence": [ { "id": "10003", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ] }, { "disease_id": "DOID:1123", "recommended_name": { "id": "DOID:1123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1123", "name": "spondyloarthropathy", "description": "" }, "synonyms": [ { "id": "DOID:1123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1123", "name": "spondarthropathy", "description": "" }, { "id": "DOID:1123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1123", "name": "spondylarthrosis", "description": "" } ], "evidence": [ { "id": "1123", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1123" } ] }, { "disease_id": "DOID:11265", "recommended_name": { "id": "DOID:11265", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11265", "name": "trachoma", "description": "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea." }, "synonyms": [ { "id": "DOID:11265", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11265", "name": "active stage trachoma", "description": "" }, { "id": "DOID:11265", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11265", "name": "trachoma dubium", "description": "" } ], "evidence": [ { "id": "11265", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11265" } ] }, { "disease_id": "DOID:11335", "recommended_name": { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs." }, "synonyms": [ { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "Boeck sarcoid", "description": "" }, { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "lymphogranulomatosis", "description": "" } ], "evidence": [ { "id": "11335", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ] }, { "disease_id": "DOID:11563", "recommended_name": { "id": "DOID:11563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11563", "name": "retinal vasculitis", "description": "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images." }, "synonyms": [], "evidence": [ { "id": "11563", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11563" } ] }, { "disease_id": "DOID:12185", "recommended_name": { "id": "DOID:12185", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule." }, "synonyms": [ { "id": "MONDO:0008164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008164", "name": "otosclerosis 1", "description": "" }, { "id": "MONDO:0008164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008164", "name": "OTSC1", "description": "" }, { "id": "MONDO:0008164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008164", "name": "otosclerosis 1", "description": "" }, { "id": "MONDO:0008164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008164", "name": "OTS", "description": "" } ], "evidence": [ { "id": "12185", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ] }, { "disease_id": "DOID:12361", "recommended_name": { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland." }, "synonyms": [ { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Grave's disease", "description": "" }, { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Graves disease", "description": "" }, { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "exophthalmic goiter", "description": "" } ], "evidence": [ { "id": "12361", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ] }, { "disease_id": "DOID:1245", "recommended_name": { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "vulva cancer", "description": "A female reproductive organ cancer that is located_in the vulva." }, "synonyms": [ { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "Ca vulva", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "Vulvar tumor", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "malignant Vulvar tumor", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "malignant neoplasm of vulva", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "malignant tumor of vulva", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "neoplasm of vulva", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "vulval cancer", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "vulval neoplasm", "description": "" }, { "id": "DOID:1245", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1245", "name": "vulvar neoplasm", "description": "" } ], "evidence": [ { "id": "1245", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1245" } ] }, { "disease_id": "DOID:1273", "recommended_name": { "id": "DOID:1273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress." }, "synonyms": [ { "id": "DOID:1273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1273", "name": "RSV", "description": "" }, { "id": "DOID:1273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1273", "name": "respiratory syncytial virus", "description": "" } ], "evidence": [ { "id": "1273", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ] }, { "disease_id": "DOID:13025", "recommended_name": { "id": "DOID:13025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13025", "name": "retinopathy of prematurity", "description": "" }, "synonyms": [ { "id": "DOID:13025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13025", "name": "Retrolental fibroplasia", "description": "" }, { "id": "DOID:13025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13025", "name": "premature retinopathy", "description": "" } ], "evidence": [ { "id": "13025", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ] }, { "disease_id": "DOID:13099", "recommended_name": { "id": "DOID:13099", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots." }, "synonyms": [ { "id": "DOID:13099", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13099", "name": "progressive intracranial arterial occlusion", "description": "" }, { "id": "MONDO:0013542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013542", "name": "Moyamoya disease 5", "description": "Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene." }, { "id": "MONDO:0013542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013542", "name": "ACTA2 Moyamoya disease", "description": "" }, { "id": "MONDO:0013542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013542", "name": "Moyamoya disease 5", "description": "" }, { "id": "MONDO:0013542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013542", "name": "Moyamoya disease caused by mutation in ACTA2", "description": "" }, { "id": "MONDO:0013542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013542", "name": "Moyamoya disease type 5", "description": "" }, { "id": "MONDO:0013542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013542", "name": "MYMY5", "description": "" }, { "id": "MONDO:0009649", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009649", "name": "moyamoya disease 1", "description": "" }, { "id": "MONDO:0009649", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009649", "name": "MYMY1", "description": "" }, { "id": "MONDO:0009649", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009649", "name": "Moyamoya disease", "description": "" }, { "id": "MONDO:0009649", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009649", "name": "Moyamoya disease 1", "description": "" }, { "id": "MONDO:0009649", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009649", "name": "spontaneous occlusion of the circle of Willis", "description": "" }, { "id": "MONDO:0012122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012122", "name": "moyamoya disease 3", "description": "" }, { "id": "MONDO:0012122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012122", "name": "MYMY3", "description": "" }, { "id": "MONDO:0012122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012122", "name": "Moyamoya disease 3", "description": "" }, { "id": "MONDO:0010448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010448", "name": "moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome", "description": "Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism." }, { "id": "MONDO:0010448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010448", "name": "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0010448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010448", "name": "moyamoya disease 4, X-linked recessive", "description": "" }, { "id": "MONDO:0010448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010448", "name": "MYMY4", "description": "" }, { "id": "MONDO:0010448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010448", "name": "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism", "description": "" }, { "id": "MONDO:0010448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010448", "name": "chromosome Xq28 deletion syndrome, 3.4-Kb", "description": "" }, { "id": "MONDO:0010448", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010448", "name": "syndromic Moyamoya disease", "description": "" }, { "id": "MONDO:0014331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014331", "name": "Moyamoya disease with early-onset achalasia", "description": "Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis." }, { "id": "MONDO:0014331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014331", "name": "moyamoya 6 with achalasia", "description": "" }, { "id": "MONDO:0014331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014331", "name": "MYMY6", "description": "" }, { "id": "MONDO:0014331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014331", "name": "Moyamoya disease 6 with achalasia", "description": "" }, { "id": "MONDO:0011784", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011784", "name": "Moyamoya disease 2", "description": "Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene." }, { "id": "MONDO:0011784", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011784", "name": "Moyamoya disease 2", "description": "" }, { "id": "MONDO:0011784", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011784", "name": "Moyamoya disease caused by mutation in RNF213", "description": "" }, { "id": "MONDO:0011784", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011784", "name": "Moyamoya disease type 2", "description": "" }, { "id": "MONDO:0011784", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011784", "name": "RNF213 Moyamoya disease", "description": "" }, { "id": "MONDO:0011784", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011784", "name": "moyamoya disease 2, susceptibility to", "description": "" }, { "id": "MONDO:0011784", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011784", "name": "MYMY2", "description": "" }, { "id": "MIM:614042", "resource": "MIM", "url": "https://www.omim.org/entry/614042", "name": "Moyamoya disease 5", "description": "Moyamoya disease 5" }, { "id": "MIM:615750", "resource": "MIM", "url": "https://www.omim.org/entry/615750", "name": "Moyamoya disease 6 with or without achalasia", "description": "Moyamoya disease 6 with or without achalasia" }, { "id": "MIM:607151", "resource": "MIM", "url": "https://www.omim.org/entry/607151", "name": "Moyamoya disease 2", "description": "Moyamoya disease 2" } ], "evidence": [ { "id": "13099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ] }, { "disease_id": "DOID:13141", "recommended_name": { "id": "DOID:13141", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid." }, "synonyms": [], "evidence": [ { "id": "13141", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ] }, { "disease_id": "DOID:13241", "recommended_name": { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behcet's disease", "description": "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis." }, "synonyms": [ { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Adamantiades-Behcet disease", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behcet syndrome", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behet's syndrome", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "triple symptom complex", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet disease", "description": "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Adamantiades-Behcet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Bechet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet-Adamantiades syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Morbus Behet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "silk road disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "triple symptom complex", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "BD", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet's disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet's disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behets disease", "description": "" } ], "evidence": [ { "id": "13241", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ] }, { "disease_id": "DOID:1407", "recommended_name": { "id": "DOID:1407", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1407", "name": "anterior uveitis", "description": "" }, "synonyms": [], "evidence": [ { "id": "1407", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ] }, { "disease_id": "DOID:1485", "recommended_name": { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs." }, "synonyms": [ { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "CF", "description": "" }, { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "mucoviscidosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis", "description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "CF", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis lung disease, modifier of", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "mucoviscidosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis", "description": "" }, { "id": "MIM:219700", "resource": "MIM", "url": "https://www.omim.org/entry/219700", "name": "Cystic fibrosis", "description": "Cystic fibrosis" } ], "evidence": [ { "id": "1485", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ] }, { "disease_id": "DOID:1883", "recommended_name": { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "hepatitis C", "description": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." }, "synonyms": [ { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "NANBH", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "Viral hepatitis C", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "chronic hepatitis C", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "hepatitis C infection", "description": "" }, { "id": "DOID:1883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1883", "name": "hepatitis nonA nonB", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis C virus infection", "description": "A viral infection caused by the hepatitis C virus." }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "Hepatitis C virus caused hepatitis", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "Hepatitis C virus hepatitis", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "NANBH", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis C infection", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis Nona nonB", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "hepatitis type C", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "non-A, non-B Hepatitis", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "viral hepatitis C", "description": "" }, { "id": "MONDO:0005231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005231", "name": "chronic hepatitis C", "description": "" } ], "evidence": [ { "id": "1883", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ] }, { "disease_id": "DOID:2703", "recommended_name": { "id": "DOID:2703", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2703", "name": "synovitis", "description": "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling." }, "synonyms": [], "evidence": [ { "id": "2703", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2703" } ] }, { "disease_id": "DOID:2723", "recommended_name": { "id": "DOID:2723", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2723", "name": "dermatitis", "description": "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin." }, "synonyms": [ { "id": "DOID:2723", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2723", "name": "eczema", "description": "" }, { "id": "DOID:2723", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2723", "name": "skin inflammation", "description": "" } ], "evidence": [ { "id": "2723", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2723" } ] }, { "disease_id": "DOID:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "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." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] }, { "disease_id": "DOID:2945", "recommended_name": { "id": "DOID:2945", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infection that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia." }, "synonyms": [ { "id": "DOID:2945", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2945", "name": "SARS", "description": "" }, { "id": "DOID:2945", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2945", "name": "SARS-CoV infection", "description": "" }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "severe acute respiratory syndrome", "description": "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "SARS", "description": "" }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "SARS coronavirus caused disease or disorder", "description": "" }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "SARS coronavirus disease or disorder", "description": "" }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "SARS coronavirus infectious disease", "description": "" }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "SARS-CoV infection", "description": "" }, { "id": "MONDO:0005091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005091", "name": "acute respiratory coronavirus infection", "description": "" } ], "evidence": [ { "id": "2945", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ] }, { "disease_id": "DOID:3611", "recommended_name": { "id": "DOID:3611", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3611", "name": "acute retinal necrosis syndrome", "description": "" }, "synonyms": [ { "id": "DOID:3611", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3611", "name": "acute retinal necrosis", "description": "" } ], "evidence": [ { "id": "3611", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3611" } ] }, { "disease_id": "DOID:3875", "recommended_name": { "id": "DOID:3875", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3875", "name": "thrombophlebitis", "description": "A phlebitis that results from a blood clot in the vessel." }, "synonyms": [ { "id": "DOID:3875", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3875", "name": "Thrombophlebitis of superficial veins of lower extremity", "description": "" }, { "id": "DOID:3875", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3875", "name": "Superficial thrombophlebitis of leg", "description": "" }, { "id": "DOID:3875", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3875", "name": "Thrombophlebitis of a superficial leg vein", "description": "" }, { "id": "DOID:3875", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3875", "name": "Phlebitis and thrombophlebitis of superficial vessels of lower extremities", "description": "" } ], "evidence": [ { "id": "3875", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3875" } ] }, { "disease_id": "DOID:399", "recommended_name": { "id": "DOID:399", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes." }, "synonyms": [], "evidence": [ { "id": "399", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:399" } ] }, { "disease_id": "DOID:419", "recommended_name": { "id": "DOID:419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:419", "name": "scleroderma", "description": "A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs." }, "synonyms": [ { "id": "DOID:419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:419", "name": "dermatosclerosis", "description": "" } ], "evidence": [ { "id": "419", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:419" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "evidence": [ { "id": "4362", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:4481", "recommended_name": { "id": "DOID:4481", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites." }, "synonyms": [ { "id": "DOID:4481", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4481", "name": "Non-seasonal allergic rhinitis", "description": "" }, { "id": "DOID:4481", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4481", "name": "Perenial allergic rhinitis", "description": "" }, { "id": "DOID:4481", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4481", "name": "atopic rhinitis", "description": "" }, { "id": "DOID:4481", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4481", "name": "hay fever", "description": "" }, { "id": "DOID:4481", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4481", "name": "pollenosis", "description": "" }, { "id": "DOID:4481", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4481", "name": "seasonal allergic rhinitis", "description": "" }, { "id": "MONDO:0100177", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100177", "name": "allergic rhinitis, susceptibility to", "description": "An inherited susceptibility or predisposition to developing allergic rhinitis." }, { "id": "MONDO:0100177", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100177", "name": "allergic rhinitis, susceptibility to", "description": "" }, { "id": "MIM:607154", "resource": "MIM", "url": "https://www.omim.org/entry/607154", "name": "Allergic rhinitis", "description": "Allergic rhinitis" } ], "evidence": [ { "id": "4481", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ] }, { "disease_id": "DOID:525", "recommended_name": { "id": "DOID:525", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:525", "name": "central nervous system vasculitis", "description": "A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine." }, "synonyms": [], "evidence": [ { "id": "525", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:525" } ] }, { "disease_id": "DOID:526", "recommended_name": { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands." }, "synonyms": [ { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "HIV infection", "description": "" } ], "evidence": [ { "id": "526", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:526" } ] }, { "disease_id": "DOID:6039", "recommended_name": { "id": "DOID:6039", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells." }, "synonyms": [ { "id": "DOID:6039", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6039", "name": "melanoma of Uvea", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "uveal melanoma", "description": "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "intraocular melanoma", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "melanoma (disease) of uvea", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "melanoma of the uvea", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "melanoma of uvea", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "melanoma, uveal, malignant", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "uvea melanoma", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "uvea melanoma (disease)", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "uveal melanoma", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "iris melanoma", "description": "" }, { "id": "MONDO:0006486", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006486", "name": "choroidal melanoma", "description": "" }, { "id": "MONDO:0011695", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011695", "name": "melanoma, uveal, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011695", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011695", "name": "UVM1", "description": "" }, { "id": "MONDO:0011695", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011695", "name": "melanoma, uveal, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011695", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011695", "name": "melanoma, uveal, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011696", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011696", "name": "melanoma, uveal, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011696", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011696", "name": "UVM2", "description": "" }, { "id": "MONDO:0011696", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011696", "name": "melanoma, uveal, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011696", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011696", "name": "melanoma, uveal, susceptibility to, type 2", "description": "" }, { "id": "MIM:606660", "resource": "MIM", "url": "https://www.omim.org/entry/606660", "name": "Melanoma, uveal, 1", "description": "Melanoma, uveal, 1" }, { "id": "MIM:606661", "resource": "MIM", "url": "https://www.omim.org/entry/606661", "name": "Melanoma, uveal, 2", "description": "Melanoma, uveal, 2" } ], "evidence": [ { "id": "6039", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ] }, { "disease_id": "DOID:6196", "recommended_name": { "id": "DOID:6196", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6196", "name": "reactive arthritis", "description": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." }, "synonyms": [ { "id": "DOID:6196", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6196", "name": "Fiessinger Leroy Reiter syndrome", "description": "" }, { "id": "DOID:6196", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6196", "name": "Post-bacterial arthropathy", "description": "" }, { "id": "DOID:6196", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6196", "name": "Reiter disease", "description": "" }, { "id": "DOID:6196", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6196", "name": "Reiter's disease", "description": "" }, { "id": "DOID:6196", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6196", "name": "postdysenteric arthropathy", "description": "" } ], "evidence": [ { "id": "6196", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6196" } ] }, { "disease_id": "DOID:635", "recommended_name": { "id": "DOID:635", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS." }, "synonyms": [ { "id": "DOID:635", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:635", "name": "AIDS", "description": "" }, { "id": "DOID:635", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:635", "name": "acquired Immune deficiency", "description": "" } ], "evidence": [ { "id": "635", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:635" } ] }, { "disease_id": "DOID:7147", "recommended_name": { "id": "DOID:7147", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7147", "name": "ankylosing spondylitis", "description": "A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage." }, "synonyms": [ { "id": "DOID:7147", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7147", "name": "Bekhterev syndrome", "description": "" }, { "id": "DOID:7147", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7147", "name": "Bekhterev's disease", "description": "" }, { "id": "DOID:7147", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7147", "name": "Marie-Strumpell disease", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "spondyloarthropathy, susceptibility to, 1", "description": "Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene." }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "HLA-B spondyloarthropathy, susceptibility to", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "spondyloarthropathy, susceptibility to caused by mutation in HLA-B", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "spondyloarthropathy, susceptibility to, 1", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "spondyloarthropathy, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "Bechterew syndrome", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "Marie-Strumpell spondylitis", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "SPDA1", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "ankylosing spondylitis, susceptibility to", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "susceptibility to spondyloarthropathy 1", "description": "" }, { "id": "MIM:106300", "resource": "MIM", "url": "https://www.omim.org/entry/106300", "name": "Spondyloarthropathy 1", "description": "Spondyloarthropathy 1" } ], "evidence": [ { "id": "7147", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ] }, { "disease_id": "DOID:8947", "recommended_name": { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "Retinal abnormality - diabetes-related", "description": "" } ], "evidence": [ { "id": "8947", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ] }, { "disease_id": "DOID:9415", "recommended_name": { "id": "DOID:9415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness." }, "synonyms": [ { "id": "DOID:9415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9415", "name": "extrinsic asthma with acute exacerbation", "description": "" }, { "id": "DOID:9415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9415", "name": "extrinsic asthma with status asthmaticus", "description": "" } ], "evidence": [ { "id": "9415", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ] }, { "disease_id": "DOID:9849", "recommended_name": { "id": "DOID:9849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss." }, "synonyms": [ { "id": "DOID:9849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9849", "name": "Meniere disease", "description": "" }, { "id": "DOID:9849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9849", "name": "Mnire's vertigo", "description": "" }, { "id": "DOID:9849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9849", "name": "Otogenic vertigo", "description": "" }, { "id": "MONDO:0007972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007972", "name": "Meniere disease", "description": "A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops." }, { "id": "MONDO:0007972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007972", "name": "Meniere disease", "description": "" }, { "id": "MONDO:0007972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007972", "name": "Mnire's vertigo", "description": "" }, { "id": "MONDO:0007972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007972", "name": "otogenic vertigo", "description": "" }, { "id": "MONDO:0007972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007972", "name": "Meniere's disease", "description": "" } ], "evidence": [ { "id": "9849", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ] }, { "disease_id": "DOID:987", "recommended_name": { "id": "DOID:987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body." }, "synonyms": [ { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia universalis congenita", "description": "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia universalis congenita", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "atrichia, generalised", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "atrichia, generalized", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "ALUNC", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "AU", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia areata universalis", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia universalis", "description": "" }, { "id": "MIM:203655", "resource": "MIM", "url": "https://www.omim.org/entry/203655", "name": "Alopecia universalis congenita", "description": "Alopecia universalis congenita" } ], "evidence": [ { "id": "987", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:987" } ] }, { "disease_id": "DOID:988", "recommended_name": { "id": "DOID:988", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:988", "name": "mitral valve prolapse", "description": "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." }, "synonyms": [ { "id": "DOID:988", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:988", "name": "Barlow's syndrome", "description": "" }, { "id": "DOID:988", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:988", "name": "floppy mitral valve", "description": "" }, { "id": "MONDO:0012569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012569", "name": "mitral valve prolapse, myxomatous 3", "description": "" }, { "id": "MONDO:0012569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012569", "name": "MMVP3", "description": "" }, { "id": "MONDO:0012569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012569", "name": "mitral valve prolapse, myxomatous 3", "description": "" }, { "id": "MONDO:0012569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012569", "name": "MVP3", "description": "" }, { "id": "MONDO:0012569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012569", "name": "mitral valve prolapse 3", "description": "" }, { "id": "MONDO:0012569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012569", "name": "myxomatous mitral valve prolapse 3", "description": "" }, { "id": "MONDO:0011915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011915", "name": "mitral valve prolapse, myxomatous 2", "description": "" }, { "id": "MONDO:0011915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011915", "name": "MMVP2", "description": "" }, { "id": "MONDO:0011915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011915", "name": "mitral valve prolapse, myxomatous 2", "description": "" }, { "id": "MONDO:0011915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011915", "name": "MVP2", "description": "" }, { "id": "MONDO:0011915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011915", "name": "mitral valve prolapse 2", "description": "" }, { "id": "MONDO:0011915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011915", "name": "myxomatous mitral valve prolapse 2", "description": "" }, { "id": "MONDO:0024529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024529", "name": "MVP1", "description": "" }, { "id": "MONDO:0024529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024529", "name": "MVP1", "description": "" }, { "id": "MONDO:0024529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024529", "name": "PMV", "description": "" }, { "id": "MONDO:0024529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024529", "name": "barlow syndrome", "description": "" }, { "id": "MONDO:0024529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024529", "name": "click-murmur syndrome", "description": "" }, { "id": "MONDO:0024529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024529", "name": "floppy mitral valve", "description": "" }, { "id": "MONDO:0024529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024529", "name": "mitral regurgitation, familial", "description": "" }, { "id": "MONDO:0024529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024529", "name": "mitral valve prolapse 1", "description": "" }, { "id": "MONDO:0024529", "resource": "MONDO", "url": 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