All terms in DOID

Label Id Description
mosaic variegated aneuploidy syndrome 1 DOID_0080141 [A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15.]
mosaic variegated aneuploidy syndrome 2 DOID_0080142 [A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21.]
ocular motility disease DOID_1279
hypertensive retinopathy DOID_11561
Cryptococcal meningitis DOID_0080159 [A fungal meningitis that has_material_basis_in Crypococcus fungal infection.]
fungal meningitis DOID_11608 [A meningitis that has_material_basis_in a fungal infection.]
aortic atherosclerosis DOID_10230 [An atherosclerosis of the aorta.]
very long chain acyl-CoA dehydrogenase deficiency DOID_0080155 [A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids.]
X-linked adrenal hypoplasia congenita DOID_0080156 [An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene.]
adrenal cortical hypofunction DOID_10493
herpes simplex virus keratitis DOID_0080158 [A keratitis that has_material_basis_in herpes simplex type infection.]
obsolete pelvic cancer DOID_10237 [A malignant neoplasm that is manifested in the pelvic region.]
neurocirculatory asthenia DOID_11569 [A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities.]
benign lymphoepithelial lesion of salivary gland DOID_12899
salivary gland disease DOID_10854 [A mouth disease located_in the salivary gland.]
obsolete malignant neoplasm of rectum, rectosigmoid junction and anus DOID_10238
Brown's tendon sheath syndrome DOID_10235 [A mechanical strabismus that is characterized by impairment of eye movements.]
mechanical strabismus DOID_9306
exhibitionism DOID_10236 [A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.]
paraphilia disorder DOID_0060044 [A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects.]