All terms in DOID

Label Id Description
dilated cardiomyopathy 1C DOID_0110423 [A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2.]
dilated cardiomyopathy 1CC DOID_0110424 [A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1.]
Leber hereditary optic neuropathy and dystonia DOID_0111755 [A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I.]
late-adult onset retinitis pigmentosa DOID_0110421 [A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.]
autosomal-mitochondrial sensorineural deafness DOID_0111752 [A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene.]
autosomal recessive pericentral pigmentary retinopathy DOID_0110422 [A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.]
infantile hypertrophic cardiomyopathy DOID_0111753 [A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8.]
adult-onset ataxia and polyneuropathy DOID_0111750 [A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6.]
mitochondrial nonsyndromic sensorineural deafness DOID_0111751 [A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI.]
dominant pericentral pigmentary retinopathy DOID_0110420 [A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.]
dilated cardiomyopathy 1H DOID_0110429 [A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.]
Y-linked deafness 2 DOID_0111758 [A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2.]
dilated cardiomyopathy 1V DOID_0110427 [A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42.]
Y-linked deafness 1 DOID_0111759 [A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life.]
dilated cardiomyopathy 1AA DOID_0110428 [A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43.]
avoidant personality disorder DOID_1509 [A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction.]
geotrichosis DOID_2832 [An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people.]
dehydration polycythemia DOID_2833
chronic cervicitis DOID_1513 [A cervicitis that is present for weeks or more.]
chronic gonorrhea of cervix DOID_1512 [A chronic cervicitis that is caused by gonorrhea.]