All terms in DOID

Label Id Description
malignant astrocytoma DOID_3069 [A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.]
acneiform dermatitis DOID_4399
cranial cavity UBERON_0013411
congenital hereditary endothelial dystrophy of cornea DOID_0060649 [A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.]
susceptibility to familial meningioma MIM_607174
endocrine-cerebro-osteodysplasia syndrome DOID_0060641 [A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase.]
recessive dystrophic epidermolysis bullosa DOID_0060642 [An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.]
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.]