Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
pulmonary sclerosing hemangioma	DOID_5766
hemangioma	DOID_255	[A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood.]
endothelial cell	CL_0000115
small intestine neuroendocrine neoplasm	DOID_4434
obsolete primary ectopic meningioma	DOID_5765
Nager acrofacial dysostosis	DOID_5768	[An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.]
acrofacial dysostosis	DOID_0060379	[A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene.]
anatomical surface region	UBERON_0036215
anterior cranial fossa meningioma	DOID_4436
hilar lung neoplasm	DOID_5767
obsolete Nematoda infectious disease	DOID_3106	[A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms.]
central nervous system germ cell tumor	DOID_4439	[A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells.]
central nervous system cancer	DOID_3620	[A nervous system cancer that is located_in the central nervous system.]
toxascariasis	DOID_3107	[A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite.]
ascaridiasis	DOID_3108	[A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia.]
central nervous system germinoma	DOID_4438
verruciform xanthoma of skin	DOID_5769
syndromic X-linked intellectual disability 17	DOID_0060803	[A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23.]
syndromic X-linked intellectual disability 12	DOID_0060804	[A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11.]
Prieto syndrome	DOID_0060805	[A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region Xp11-q21.]