Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Human betaherpesvirus 7	NCBITaxon_10372
Roseolovirus	NCBITaxon_40272
Lymphocryptovirus	NCBITaxon_10375
Gammaherpesvirinae	NCBITaxon_10374
Human gammaherpesvirus 4	NCBITaxon_10376
Rhadinovirus	NCBITaxon_10379
congenital disorder of glycosylation type IIp	DOID_0070268	[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM199 on chromosome 17q11.2.]
congenital disorder of glycosylation type IIq	DOID_0070269	[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG2 on chromosome 1q42.2.]
congenital disorder of glycosylation type IIn	DOID_0070266	[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC39A8 on chromosome 4q24.]
congenital disorder of glycosylation type IIo	DOID_0070267	[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of CCDC115 on chromosome 2q21.1.]
susceptibility to autism 17	OMIM_613436
hereditary nonpolyposis colorectal cancer type 4	DOID_0070275	[A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22.]
Lynch syndrome	DOID_3883	[A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.]
hereditary nonpolyposis colorectal cancer type 7	DOID_0070276	[A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3.]
hereditary nonpolyposis colorectal cancer type 6	DOID_0070273	[A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22.]
hereditary nonpolyposis colorectal cancer type 2	DOID_0070274	[A Lynch syndrome that has_material_basis_in mutations in the MLH1 gene on chromosome 3p22.2.]
Lynch syndrome 1	DOID_0070271	[A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.]
susceptibility to autism 15	OMIM_612100
hereditary nonpolyposis colorectal cancer type 5	DOID_0070272	[A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16.]
hereditary nonpolyposis colorectal cancer type 8	DOID_0070270	[A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.]