Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
dilated cardiomyopathy 1CC	DOID_0110424	[A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1.]
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 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.]
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.]
dilated cardiomyopathy 1V	DOID_0110427	[A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42.]
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.]
Geotrichum candidum	NCBITaxon_1173061
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.]
bruxism	DOID_2846	[A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping.]
obsolete residual schizophrenia chronic state with acute exacerbation	DOID_1511
melancholia	DOID_2848
retinitis pigmentosa 3	DOID_0110414	[A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.]
Abnormal endocardium morphology	HP_0004306	[An abnormality of the endocardium.]
retinitis pigmentosa 2	DOID_0110415	[A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3.]
retinitis pigmentosa 23	DOID_0110412	[A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22.]