Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
imidazopyrimidine	CHEBI_35875
obsolete predominant disturbance of emotions	DOID_6087
pediatric leptomeningeal melanoma	DOID_6089
trichohepatoenteric syndrome 1	DOID_0111415	[A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in TTC37 on chromosome5q15.]
trichohepatoenteric syndrome	DOID_0111414	[A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex.]
trichohepatoenteric syndrome 2	DOID_0111416	[A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in SKIV2L on chromosome 6p21.33.]
X-linked exudative vitreoretinopathy 2	DOID_0111413	[An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3.]
exudative vitreoretinopathy 4	DOID_0111411	[An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in LRP5 on chromosome 11q13.2.]
exudative vitreoretinopathy 1	DOID_0111412	[An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in FZD4 on chromosome 11q14.2.]
superior vena cava leiomyosarcoma	DOID_7390	[A leiomyosarcoma that is located_in the superior vena cava.]
obsolete superior vena cava malignant neoplasm	DOID_7391
exudative vitreoretinopathy 6	DOID_0111410	[An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in ZNF408 on chromosome 11p11.2.]
obsolete localized resectable adult primary liver cancer	DOID_7385
obsolete paranasal sinus Schneiderian papilloma	DOID_6055
obsolete localized resectable adult primary hepatoma	DOID_7384
frontal sinus Schneiderian papilloma	DOID_6054
pulmonary artery leiomyosarcoma	DOID_7389	[A leiomyosarcoma that is located_in the pulmonary artery.]
familial chylomicronemia due to inhibition of lipoprotein lipase activity	DOID_0111419	[A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase.]
familial chylomicronemia syndrome	DOID_0111417	[A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia.]
nasal vestibule papilloma	DOID_6059