All terms in DOID

Label Id Description
epidermolysis bullosa dystrophica DOID_4959 [An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.]
primary sclerosing cholangitis DOID_0060643 [A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.]
sclerosing cholangitis DOID_14268
chondrodysplasia-pseudohermaphroditism syndrome DOID_0060644 [A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.]
chronic recurrent multifocal osteomyelitis DOID_0060645 [An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.]
osteomyelitis DOID_1019 [A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow.]
congenital chylothorax DOID_0060646 [A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life.]
pleural disease DOID_1532 [A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism.]
Embryophyta NCBITaxon_3193
Streptophytina NCBITaxon_131221
fetal encasement syndrome DOID_0060647 [A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.]
cystic lymphangioma DOID_3081
lymphangioma DOID_1475 [A benign vascular tumor that is composed of dilated lymphatic channels.]
anterior segment dysgenesis DOID_0060648 [An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye.]
gliosarcoma DOID_3071 [A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation.]
obsolete secondary glioblastoma multiforme DOID_3072
brain glioblastoma multiforme DOID_3073 [A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems.]
giant cell glioblastoma DOID_3074 [A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells.]
adult astrocytic tumor DOID_3076 [A malignant astrocytoma that occurs during adulthood.]
obsolete anaplastic childhood astrocytoma DOID_3077