All terms in DOID

Label Id Description
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
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
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.]
conservative_missense_variant SO_0001585
inflammatory bowel disease 13 DOID_0110893 [An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1.]
complex_transcript_variant SO_0001577
stop_lost SO_0001578
corticosteroid CHEBI_50858
Abnormal circulating vitamin B12 concentration HP_0040126
fetal alcohol syndrome DOID_0050665 [A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.]
Bietti crystalline corneoretinal dystrophy DOID_0050664 [A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.]