Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Orientia tsutsugamushi	NCBITaxon_784
obsolete immune hydrops fetalis	DOID_12040
Fanconi anemia complementation group O	DOID_0111096	[A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24.]
Fanconi anemia complementation group Q	DOID_0111093	[A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.]
Fanconi anemia complementation group N	DOID_0111094	[A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12.]
Kawasaki disease	DOID_13378	[A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities.]
obsolete upper limb cancer	DOID_13387
obsolete meningitis with clear cerebrospinal fluid	DOID_12056
Fanconi anemia complementation group F	DOID_0111088	[A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15.]
gastrointestinal anthrax	DOID_13386	[An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.]
sarcoid meningitis	DOID_12055
Fanconi anemia complementation group D1	DOID_0111089	[A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.]
obsolete Trypanosoma meningitis	DOID_12054	[A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species.]
Fanconi anemia complementation group G	DOID_0111086	[A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13.]
cryptococcosis	DOID_12053	[An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.]
Fanconi anemia complementation group C	DOID_0111087	[A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22.]
obsolete cryptococcal meningitis	DOID_12052	[A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion.]
Fanconi anemia complementation group E	DOID_0111084	[A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21.]
megaloblastic anemia	DOID_13382	[A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.]
Fanconi anemia complementation group U	DOID_0111085	[A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36.]