All terms in DOID

Label Id Description
Wolman disease DOID_14497 [A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.]
arthrogryposis multiplex congenita-3 DOID_0080979 [An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25.]
lipoid proteinosis DOID_14498
prepuce cancer DOID_13168
piperacillin allergy DOID_0040033 [A beta-lactam allergy that has_allergic_trigger piperacillin.]
carbapenem allergy DOID_0040032 [A drug allergy that has_allergic_trigger carbapenems.]
diclofenac allergy DOID_0040031 [A drug allergy that has_allergic_trigger diclofenac.]
cefixime allergy DOID_0040030 [A cephalosporin allergy that has_allergic_trigger cefixime.]
aztreonam allergy DOID_0040037 [A beta-lactam allergy that has_allergic_trigger aztreonam.]
tubocurarine allergy DOID_0040036 [A drug allergy that has_allergic_trigger tubocurarine.]
sulfasalazine allergy DOID_0040035 [A drug allergy that has_allergic_trigger sulfasalazine.]
rocuronium allergy DOID_0040034 [A drug allergy that has_allergic_trigger rocuronium.]
hereditary angioedema type III DOID_0080940 [A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35.]
hereditary angioedema DOID_14735 [An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.]
obsolete chronic erythremia in remission DOID_13177
acquired angioedema DOID_0080941 [An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation.]
angioedema DOID_1558 [A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues.]
obsolete female genital tuberculosis DOID_13175
46,XX sex reversal 5 DOID_0080943 [A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26.]
46,XX sex reversal DOID_0111760 [A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous.]