Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
rectum lymphoma	DOID_1988
obsolete fetal disease	DOID_1987
inflammatory bowel disease 19	DOID_0110890	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1.]
inflammatory bowel disease 3	DOID_0110891	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3.]
vitelliform macular dystrophy	DOID_0050661	[A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss.]
Beare-Stevenson cutis gyrata syndrome	DOID_0050660	[A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.]
rectum malignant melanoma	DOID_1992
Bethlem myopathy	DOID_0050663	[A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.]
obsolete metastases to large Intestine	DOID_1991
bestrophinopathy	DOID_0050662	[A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.]
obsolete metastasis to the rectum	DOID_1990
inflammatory bowel disease 20	DOID_0110898	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24.]
inflammatory bowel disease 28	DOID_0110899	[An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23.]
exon_variant	SO_0001791	[A sequence variant that changes exon sequence.]
inflammatory bowel disease 16	DOID_0110896	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32.]
inflammatory bowel disease 15	DOID_0110897	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21.]
inflammatory bowel disease 11	DOID_0110894	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22.]
missense_variant	SO_0001583	[A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved.]
inflammatory bowel disease 14	DOID_0110895	[An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32.]
inflammatory bowel disease 1	DOID_0110892	[An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1.]