Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
tropical spastic paraparesis	DOID_321	[A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.]
somatic_variant	SO_0001777
interband	SO_0000450	[A light region between two darkly staining bands in a polytene chromosome.]
vascular myelopathy	DOID_320
germline_variant	SO_0001778
syringomyelia	DOID_327
pedigree_specific_variant	SO_0001779
pontocerebellar hypoplasia type 1B	DOID_0060266	[A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.]
pontocerebellar hypoplasia type 1A	DOID_0060265	[A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in mutation in the VRK1 gene.]
porencephaly	DOID_0060263	[A brain disease that is characterized by encephalomalacia and cystic brain lesions.]
congenital ptosis	DOID_0060261	[A ptosis characterized by eyelid drop present at birth.]
ptosis	DOID_0060260	[An eye disease characterized by the drooping or falling of the upper or lower eyelid.]
Melkersson-Rosenthal syndrome	DOID_1761
facial nerve neoplasm	DOID_1760
inverted_ring_chromosome	SO_0000439
progressive muscular atrophy	DOID_318
ARS	SO_0000436	[A sequence that can autonomously replicate, as a plasmid, when transformed into a bacterial host.]
benign_variant	SO_0001770
RR_tract	SO_0000435	[A polypurine tract within an LTR_retrotransposon.]
disease_associated_variant	SO_0001771