Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	DOID_0080209	[A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.]
sideroblastic anemia	DOID_8955	[An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).]
carcinoma of supraglottis	DOID_7763
supraglottis cancer	DOID_13476
pulmonary hypertension	DOID_6432	[A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.]
hypertension	DOID_10763	[An artery disease characterized by chronic elevated blood pressure in the arteries.]
subglottis carcinoma	DOID_7764
subglottis cancer	DOID_11472
childhood multilocular cystic kidney neoplasm	DOID_7762	[A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma.]
auditory system cancer	DOID_833	[An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs.]
Staphylococcaceae	NCBITaxon_90964
testicular infarct	DOID_5104
Coats disease	DOID_7765
retinal telangiectasia	DOID_7736
obsolete achromic nevus	DOID_5107
choroid cancer	DOID_12759
susceptibility to polysubstance abuse	OMIM_606581
substance abuse	DOID_302	[A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.]
punctate palmoplantar keratoderma type 1A	DOID_0080214
punctate palmoplantar keratoderma	DOID_0060361	[A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.]