All terms in DOID

Label Id Description
psychologic vaginismus DOID_10131 [A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.]
psychosexual disorder DOID_10132 [A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin.]
dysbaric osteonecrosis DOID_0080018 [An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone.]
congenital myopathy 17 DOID_0081349 [A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15.]
congenital myopathy 9A DOID_0081343 [A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28.]
congenital myopathy 9B DOID_0081344 [A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A.]
obsolete mitochondrial disease DOID_0080013
aromatic ketone CHEBI_76224
genetic disease DOID_630 [A disease that has_material_basis_in genetic variations in the human genome.]
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.]
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