Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Spermatophyta	NCBITaxon_58024
diabetes mellitus	DOID_9351	[A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.]
prediabetes syndrome	DOID_11716
gestational diabetes	DOID_11714
diabetic angiopathy	DOID_11713
peripheral vascular disease	DOID_341	[A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain.]
nerve	UBERON_0001021
Duchenne muscular dystrophy	DOID_11723	[A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.]
myotonic dystrophy type 1	DOID_11722	[A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.]
myotonic disease	DOID_450	[A muscular dystrophy that is characterized by progressive muscle wasting and weakness.]
glycogen storage disease VII	DOID_11721
glycogen storage disease	DOID_2747	[A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.]
Lyme disease	DOID_11729	[A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system.]
Ixodes pacificus	NCBITaxon_29930
facioscapulohumeral muscular dystrophy	DOID_11727
Cornelia de Lange syndrome	DOID_11725	[A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.]
limb-girdle muscular dystrophy	DOID_11724	[A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.]
Abnormality of the parathyroid physiology	HP_0011767	[A functional abnormality of the parathyroid gland.]
obsolete syphilitic pericarditis	DOID_11734
obsolete syphilitic aortic aneurysm	DOID_11733