Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Yersinia <enterobacteria>	NCBITaxon_629
Trichocomaceae	NCBITaxon_28568
susceptibility to autosomal dominant parkinson disease 11	OMIM_607688
Bolivian hemorrhagic fever	DOID_0050195	[A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts.]
scalp-ear-nipple syndrome	DOID_0111550	[An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in KCTD1 on chromosome 18q11.2.]
Argentine hemorrhagic fever	DOID_0050194	[A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.]
neurogenic scapuloperoneal syndrome Kaeser type	DOID_0111551	[A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35.]
Brugada syndrome 3	DOID_0110220	[A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13.]
Brugada syndrome	DOID_0050451	[A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.]
Brazilian hemorrhagic fever	DOID_0050197	[A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears.]
Venezuelan hemorrhagic fever	DOID_0050196	[A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.]
Whitewater Arroyo hemorrhagic fever	DOID_0050199	[A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations.]
Neotoma albigula	NCBITaxon_42408
Chapare hemorrhagic fever	DOID_0050198	[A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding.]
Chapare mammarenavirus	NCBITaxon_499556
hemocyte (sensu Nematoda and Protostomia)	CL_0000387
Charcot-Marie-Tooth disease type 2DD	DOID_0111558	[A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in ATP1A1 on chromosome 1p13.1.]
Charcot-Marie-Tooth disease type 2	DOID_0050539	[A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.]
cataract 32 multiple types	DOID_0110227	[A cataract that has_material_basis_in mutation in the region 14q22-q23.]
Charcot-Marie-Tooth disease type 2EE	DOID_0111559	[A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in MPV17 on chromosome 2p23.3.]