All terms in DOID

Label Id Description
penis basaloid carcinoma DOID_7047
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 DOID_0111517 [A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1.]
thoracic cavity vein UBERON_0003479
brain ventricle UBERON_0004086
orbital region UBERON_0004088
labium majora UBERON_0004085
Li-Fraumeni syndrome 1 DOID_0111503 [A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1.]
obsolete mixed choriocarcinoma and seminoma of the testis DOID_8390
pharyngoconjunctival fever DOID_13801 [A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache.]
Li-Fraumeni syndrome 2 DOID_0111504 [A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1.]
inclusion conjunctivitis DOID_13800 [A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus.]
combined oxidative phosphorylation deficiency 29 DOID_0111501 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3.]
combined oxidative phosphorylation deficiency 6 DOID_0111502 [A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.]
adult type testicular granulosa cell tumor DOID_8394
Polyploviricotina NCBITaxon_2497571
combined oxidative phosphorylation deficiency 23 DOID_0111500 [A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11.]
Haploviricotina NCBITaxon_2497570
obsolete precursor B lymphoblastic lymphoma/leukemia DOID_7061 [A precursor lymphoblastic lymphoma/leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.]
reticular pattern testicular yolk sac tumor DOID_8392
obsolete ectopic chorionic gonadotropin secretion disease DOID_8386