All terms in DOID

Label Id Description
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
Angulation of penis HP_6000085
orofaciodigital syndrome XX DOID_0060962 [An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11.]
Joint dislocation HP_0001373
obsolete dystonia, DOPA-responsive DOID_0060963 [A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13.]
Loeys-Dietz syndrome 6 DOID_0060964 [A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21.]
attention deficit hyperactivity disorder DOID_1094 [A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.]