All terms in DOID

Label Id Description
Mandibulata NCBITaxon_197563
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.]
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.]
Abnormality of movement HP_0100022
biotinidase deficiency DOID_856 [A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.]
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
inframe_variant SO_0001650
inframe_insertion SO_0001821
internal_feature_elongation SO_0001908
inframe_deletion SO_0001822
feature_truncation SO_0001906
conservative_inframe_insertion SO_0001823
polymyalgia rheumatica DOID_853 [A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck.]
disruptive_inframe_insertion SO_0001824
conservative_inframe_deletion SO_0001825
disruptive_inframe_deletion SO_0001826