All terms in DOID

Label Id Description
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.]
Abnormal scrotum morphology HP_0000045
bloodshot eye SYMP_0000446
bloody sputum SYMP_0000447 [A sputum that is characterized by blood or bloody mucus discharged from the air passages caused by common forms of infection in the lungs and airways, such as acute bronchitis or pneumonia. Bloody sputum can also come from cancer of the lung.]
alpha thalassemia DOID_1099 [A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.]
thalassemia DOID_10241 [A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.]
dominant_negative_variant SO_0002052
orofaciodigital syndrome XIX DOID_0060960 [An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21.]
hemolytic disease of the fetus DOID_1098 [A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.]
microcytic anemia DOID_11252 [An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear.]
gain_of_function_variant SO_0002053
orofaciodigital syndrome XVIII DOID_0060961 [An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13.]
obsolete hydrops fetalis DOID_1097
loss_of_function_variant SO_0002054
Chordee HP_0000041