All terms in DOID

Label Id Description
orofacial cleft 9 DOID_0080402 [An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34.]
malaria, susceptibility to MIM_611162
orofacial cleft 10 DOID_0080403 [An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33.]
orofacial cleft 11 DOID_0080404 [An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.]
orofacial cleft 7 DOID_0080400 [An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23.]
thiocarbonyl compound CHEBI_50492
familial adenomatous polyposis 1 DOID_0080409 [A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22.]
familial adenomatous polyposis DOID_0050424 [An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.]
orofacial cleft 12 DOID_0080405 [An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3.]
orofacial cleft 13 DOID_0080406 [An orofacial cleft characterized by autosomal doninant inhertitance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730.]
orofacial cleft 14 DOID_0080407 [An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors.]
orofacial cleft 15 DOID_0080408 [An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21.]
Childhood onset HP_0011463 [Onset of disease at the age of between 1 and 5 years.]
Fetal onset HP_0011461 [Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).]
Antenatal onset HP_0030674 [Onset prior to birth.]
Young adult onset HP_0011462 [Onset of disease at the age of between 16 and 40 years.]
obsolete Measles virus otitis media DOID_8812 [A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear.]
obsolete malignant histiocytosis involving intrathoracic lymph nodes DOID_8811
Embryonal onset HP_0011460 [Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation).]
familial adenomatous polyposis 4 DOID_0080412 [A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11.]