Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
blepharocheilodontic syndrome	DOID_0080344	[A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.]
malignant pheochromocytoma	DOID_0080347	[An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones.]
low-grade fever	SYMP_0000879	[Low-grade fever is a fever that does not exceed 38.5 degree centrigrade.]
mild fever	SYMP_0000881	[Mild fever is a fever that occurs in a mild form.]
Alzheimer's disease 1	DOID_0080348	[An Alzheimer's disease that has_material_basis_in mutation in the gene encoding the amyloid precursor protein on chromosome 21q.]
Alzheimer's disease	DOID_10652	[A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.]
early infantile epileptic encephalopathy 39	DOID_0080349	[An early infantile epileptic encephalopathy that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.]
decreased tongue tone	SYMP_0000877
Simpson-Golabi-Behmel syndrome type 2	DOID_0080342	[A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.]
transient fever	SYMP_0000878	[Transient fever is a fever that is characterized as a rise of body temperature above the normal that is sustained for only a short period of time.]
autosomal recessive pyridoxine-refractory sideroblastic anemia 3	DOID_0080343	[A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.]
Mus musculus	NCBITaxon_10090
Mus <subgenus>	NCBITaxon_862507
lameness	SYMP_0000875	[Lameness is a musculoskeletal system symptom where a person is physically disabled as the result of having a body part and especially a limb so disabled as to impair freedom of movement.]
blepharocheilodontic syndrome 1	DOID_0080345	[A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22.]
obsolete Hodgkin's lymphoma, nodular sclerosis, extranodal and solid organ sites	DOID_8871
obsolete nodular lymphoma involving intrathoracic lymph nodes	DOID_8870
breast apocrine adenoma	DOID_7540	[A breast adenoma that is characterized by apocine differentiation.]
breast adenoma	DOID_1625	[A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures.]
obsolete recurrent squamous cell carcinoma of the esophagus	DOID_7543