Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
congenital mirror movement disorder	DOID_0111153	[A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs.]
plasma cell	CL_0000786
autosomal dominant isolated ectopia lentis 1	DOID_0111150	[An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.]
isolated ectopia lentis	DOID_0111148	[A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age.]
mature B cell	CL_0000785
B cell	CL_0000236
Saethre-Chotzen syndrome	DOID_14768	[An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.]
Prinzmetal angina	DOID_0111151	[A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity.]
bullous retinoschisis	DOID_12108
obsolete primary retinal cyst	DOID_12107
obsolete tricuspid valve syphilitic endocarditis	DOID_12106
inflammatory spondylopathy	DOID_12105
axon tract	UBERON_0001018
obsolete vitamin A deficiency with corneal xerosis and ulcer	DOID_12104
SADDAN	DOID_0111158	[A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.]
partial trisomy distal 4q	DOID_0111159	[A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q.]
Greig cephalopolysyndactyly syndrome	DOID_14761	[An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.]
spermatogenic failure 9	DOID_0111156	[A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14.]
calcaneonavicular coalition	DOID_14762	[A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.]
susceptibility to autism 11	OMIM_610836