Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
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	[Any compound containing the thiocarbonyl group, C=S.]
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.]
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
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.]
early infantile epileptic encephalopathy 18	DOID_0080413	[An early infantile epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.]
early infantile epileptic encephalopathy 15	DOID_0080414	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.]
early infantile epileptic encephalopathy 23	DOID_0080415	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.]
Pseudocowpox virus	NCBITaxon_129726
familial adenomatous polyposis 2	DOID_0080410	[A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.]
familial adenomatous polyposis 3	DOID_0080411	[A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13.]
early infantile epileptic encephalopathy 32	DOID_0080416	[An early infantile epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13.]
early infantile epileptic encephalopathy 38	DOID_0080417	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous mutation in the ARV1 gene on chromosome 1q42.]
early infantile epileptic encephalopathy 54	DOID_0080418	[An early infantile epileptic encephalopathy chraracterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.]