All terms in DOID

Label Id Description
aromatic ketone CHEBI_76224
congenital myopathy 10B DOID_0081345 [A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features.]
genetic disease DOID_630 [A disease that has_material_basis_in genetic variations in the human genome.]
congenital myopathy 14 DOID_0081346 [A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time.]
xerophthalmia DOID_10138 [A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency.]
conjunctival degeneration DOID_10139
eye degenerative disease DOID_9799
mucopolysaccharidosis II DOID_12799 [A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.]
Oropouche virus NCBITaxon_118655
Orthobunyavirus oropoucheense NCBITaxon_3052429
hallucinogen abuse DOID_12797 [A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.]
hepatic osteogenic sarcoma DOID_6370
obsolete Posterior synechiae DOID_12796
sexual health disorder DOID_0060043 [A disease of mental health that involves the impairment in normal sexual functioning.]
abdominal aortic aneurysm DOID_7693 [An aortic aneurysm that is located_in the abdominal aorta.]
pineal parenchymal tumor of intermediate differentiation DOID_5030
pineoblastoma DOID_1664 [A pineal gland neoplasm located_in the brain.]
bladder urachal adenocarcinoma DOID_7694
obsolete renal cell carcinoma with constitutional chromosome 3 translocations DOID_6361
adult pineal parenchymal tumor DOID_5031