Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
bronchiole	UBERON_0002186
male breast cancer	DOID_1614	[A breast cancer that occurs in males.]
obsolete Poxviridae infectious disease	DOID_2943	[A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses.]
obsolete mental disorder	DOID_0050329	[A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture.]
Mandibulata	NCBITaxon_197563
acute pancreatitis	DOID_2913
hypersensitivity reaction disease	DOID_0060056	[An immune system disease that has_material_basis_in abnormal immune responses.]
cryoglobulinemia	DOID_2917	[A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.]
obsolete paraproteinemia	DOID_2918	[A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood.]
Cerebral palsy	HP_0100021	[Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.]
Abnormality of movement	HP_0100022	[An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.]
holocarboxylase synthetase deficiency	DOID_859	[A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.]
multiple carboxylase deficiency	DOID_857	[An amino acid metabolic disorder that involves failures of carboxylation enzymes.]
biotinidase deficiency	DOID_856	[A multiple carboxylase deficiency that involves a deficiency in biotinidase.]
Bartholin's duct cyst	DOID_851	[A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands.]
inframe_indel	SO_0001820	[A coding sequence variant where the change does not alter the frame of the transcript.]
inframe_variant	SO_0001650	[A sequence variant which does not cause a disruption of the translational reading frame.]
inframe_insertion	SO_0001821	[An inframe non synonymous variant that inserts bases into in the coding sequence.]
internal_feature_elongation	SO_0001908	[A sequence variant that causes the extension of a genomic feature from within the feature rather than from the terminus of the feature, with regard to the reference sequence.]
inframe_deletion	SO_0001822	[An inframe non synonymous variant that deletes bases from the coding sequence.]