All terms in DOID

Label Id Description
labyrinthine bilateral reactive loss DOID_14413
Legg-Calve-Perthes disease DOID_14415 [An osteochondrosis that results_in death and fracture located_in hip joint.]
female gamete CL_0000675
female germ cell CL_0000021
gamete CL_0000300
dracunculiasis DOID_14418 [A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection.]
combined oxidative phosphorylation deficiency 41 DOID_0112119 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3.]
retinal cell CL_0009004
combined oxidative phosphorylation deficiency 42 DOID_0112118 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31.]
combined oxidative phosphorylation deficiency 40 DOID_0112117 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21.]
combined oxidative phosphorylation deficiency 43 DOID_0112116 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3.]
combined oxidative phosphorylation deficiency 46 DOID_0112115 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22.]
combined oxidative phosphorylation deficiency 47 DOID_0112114 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13.]
combined oxidative phosphorylation deficiency 45 DOID_0112113 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3.]
obsolete Mansonella ozzardi infectious disease DOID_14419 [A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease.]
Abnormal male urethral meatus morphology HP_0032076
dipetalonemiasis DOID_14422 [A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis.]
retinitis pigmentosa 88 DOID_0112145 [A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1.]
glossopharyngeal neuralgia DOID_14423
retinitis pigmentosa 87 DOID_0112144 [A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3.]