Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
alopecia universalis	DOID_0050634	[An alopecia characterized by the complete loss of hair on the scalp and body.]
familial visceral amyloidosis	DOID_0050636	[An amyloidosis that is characterized by the abdnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.]
alternating hemiplegia of childhood	DOID_0050635	[A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.]
transthyretin amyloidosis	DOID_0050638	[An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.]
Finnish type amyloidosis	DOID_0050637	[An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptoms corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa.]
telogen effluvium	DOID_1943
Aicardi-Goutieres syndrome	DOID_0050629	[A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.]
infiltrating renal pelvis transitional cell carcinoma	DOID_0050620	[A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis.]
gastrointestinal neuroendocrine tumor	DOID_0050626	[A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.]
obsolete benign hypertensive heart disease	DOID_1954
hyperuricemia	DOID_1920	[An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.]
familial atrial fibrillation	DOID_0050650	[An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.]
atrial fibrillation	DOID_0060224	[A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.]
obsolete soft tissue cancer	DOID_0050652
hereditary spastic paraplegia 48	DOID_0110800	[A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1.]
serosa of uterus	UBERON_0001297
hereditary spastic paraplegia 55	DOID_0110807	[A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24.]
hereditary spastic paraplegia 56	DOID_0110808	[A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.]
hereditary spastic paraplegia 53	DOID_0110805	[A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22.]
hereditary spastic paraplegia 54	DOID_0110806	[A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11.]