Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
ITM2B-related cerebral amyloid angiopathy 2	DOID_0070030	[A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.]
one_two_prime_O_dimethyladenosine	SO_0001314	[1,2'-O-dimethyladenosine is a modified adenosine.]
N6_N6_2_prime_O_trimethyladenosine	SO_0001313	[N6_N6_2prime_O_trimethyladenosine is a modified adenosine.]
N6_2_prime_O_dimethyladenosine	SO_0001312	[N6_2prime_O_dimethyladenosine is a modified adenosine.]
seven_aminomethyl_seven_deazaguanosine	SO_0001322	[7_aminomethyl_7_deazaguanosine is a modified 7-deazoguanosine.]
seven_cyano_seven_deazaguanosine	SO_0001321	[7_cyano_7_deazaguanosine is a modified 7-deazoguanosine.]
autosomal dominant non-syndromic intellectual disability 9	DOID_0070039	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIF1A on chromosome 2q37.3.]
mannosyl_queuosine	SO_0001320	[Mannosyl_queuosine is a modified 7-deazoguanosine.]
autosomal dominant non-syndromic intellectual disability 7	DOID_0070037	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.]
autosomal dominant non-syndromic intellectual disability 8	DOID_0070038	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN1 on chromosome 9q34.3.]
autosomal dominant non-syndromic intellectual disability 5	DOID_0070035	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SYNGAP1 on chromosome 6p21.32.]
autosomal dominant non-syndromic intellectual disability 6	DOID_0070036	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN2B on chromosome 12p13.1.]
3-methylglutaconic aciduria type 8	DOID_0070000	[A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.]
3-methylglutaconic aciduria	DOID_0060336	[An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.]
catecholaminergic polymorphic ventricular tachycardia	DOID_0060674	[A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities.]
heart conduction disease	DOID_10273	[A cardiovascular system disease that involves the heart's electrical conduction system.]
ventricular tachycardia	SYMP_0000827	[A tachycardia that is associated with the generation of improper electrical impulses within the ventricles, characterized by an electrocardiogram showing a rate of greater than 120 BPM and three or more wide QRS complexes in a row.]
obsolete neoplastic disease	DOID_0070001	[A disease of cellular proliferation that results in an abnormal mass of tissue.]
catecholaminergic polymorphic ventricular tachycardia 1	DOID_0060675	[A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43.]
catecholaminergic polymorphic ventricular tachycardia 2	DOID_0060676	[A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13.]