All terms in DOID

Label Id Description
abnormal weight loss SYMP_0020013 [A weight loss that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying.]
chronic weight loss SYMP_0020014 [A weight loss that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both.]
bloody diarrhea SYMP_0020011
obsolete non-alcoholic fatty liver DOID_0080546 [A metabolic dysfunction-associated steatotic liver disease characterized by the absence of inflammation and hepatocyte injury in the form of hepatocyte ballooning.]
delayed psychomotor development SYMP_0020049 [A nutrition, metabolism, and development symptom that is characterized by the delay in development child's cognitive, emotional, motor, and social capacities from the beginning of life throughout fetal and neonatal periods, infancy, childhood, and adolescence.]
metabolic dysfunction-associated steatohepatitis DOID_0080547 [A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.]
galactosialidosis DOID_0080540 [A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.]
hyperprolinemia DOID_0080541 [An amno acid metabolic disorder that is characterized by the excess of proline in the blood.]
hyperprolinemia type 1 DOID_0080542 [A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11.]
hyperprolinemia type 2 DOID_0080543 [A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.]
Noonan syndrome with multiple lentigines 1 DOID_0080548 [A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.]
Noonan syndrome with multiple lentigines DOID_14291 [A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.]
Noonan syndrome with multiple lentigines 2 DOID_0080549 [A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25.]
parasitic infectious disease DOID_1398 [A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.]
polyembryoma of the ovary DOID_6774 [An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies.]
clear cell hidradenoma DOID_5443
eccrine acrospiroma DOID_5442
cervical adenosarcoma DOID_4111 [A cervical carcinosarcoma that is located_in the cervix.]
villoglandular endometrial endometrioid adenocarcinoma DOID_6777 [An endometrial adenocarcinoma that is characterized by papillary differentiation.]
syringocystadenoma papilliferum DOID_5445