All terms in DOID

Label Id Description
polycystic liver disease 4 DOID_0060977 [A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.]
mansonelliasis DOID_1081 [A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies.]
Fanconi anemia complementation group W DOID_0060978 [A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23.]
Aspergillus subgen. Fumigati NCBITaxon_2720872
Aspergillus NCBITaxon_5052
Cornelia de Lange syndrome 6 DOID_0060970 [A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13.]
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.]
Amoebozoa NCBITaxon_554915
anasarca SYMP_0000433 [Anasarca is a edema characterized as generalized edema with accumulation of serum in the connective tissue.]
urticaria SYMP_0000434 [A skin and integumentary tissue symptom that is characterized by raised red skin wheals (welts) commonly caused by an allergic reaction with wheals that may vary in size from about 5 mm (0.2 inches) in diameter to the size of a dinner plate that are described as severely itchy a stingnig or burning sensation, and having a pale border.]
sputum SYMP_0000431 [A respiratory system and chest symptom that is characterized by matter discharged from the air passages in diseases of the lungs, bronchi, or upper respiratory tract that contains mucus and often pus, blood, fibrin, or bacterial products.]
itching SYMP_0000432 [A skin and integumentary tissue symptom that is characterized by an uneasy irritating sensation in the upper surface of the skin usually held to result from mild stimulation of pain receptors.]
pleuritic chest pain SYMP_0000430 [A chest pain that is characterized by an inflammation of the pleural cavity with a sharp pain resulting from the exansion of the lungs as the inflammed pleural layers rub against each other.]
Hypospadias HP_0000047
hypotrichosis 15 DOID_0060968 [A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13.]
galactosemia 4 DOID_0060969 [A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22.]
galactosemia DOID_9870 [A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.]
epistaxis SYMP_0000448 [A nose symptom that involves a is loss of blood from the tissue lining the nose.]
cardiogenic shock SYMP_0000449
shock SYMP_0000450 [A cardiovascular system symptom that is characterized as a state of profound depression of the vital processes of the body that is characterized by pallor, rapid but weak pulse, rapid and shallow respiration, reduced total blood volume, and low blood pressure and that is caused usually by severe especially crushing injuries, hemorrhage, burns, or major surgery.]