Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
decreased_translational_product_level	SO_0001555	[A sequence variant which decreases the translational product level with respect to a reference sequence.]
nephrolithiasis	DOID_585
snRNA_primary_transcript	SO_0000231	[A primary transcript encoding a small nuclear RNA (SO:0000274).]
increased_translational_product_level	SO_0001556	[A sequence variant which increases the translational product level with respect to a reference sequence.]
valine_tRNA_primary_transcript	SO_0000230	[A primary transcript encoding valyl tRNA (SO:000273).]
polypeptide_gain_of_function_variant	SO_0001557	[A sequence variant which causes gain of polypeptide function with respect to a reference sequence.]
polypeptide_localization_variant	SO_0001558	[A sequence variant which changes the localization of a polypeptide with respect to a reference sequence.]
cancer	DOID_162	[A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.]
C1 inhibitor deficiency	DOID_0060002	[A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.]
Complement deficiency	HP_0004431	[An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.]
brachydactyly-syndactyly syndrome	DOID_0050689	[A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.]
hemoglobinuria	DOID_582
obsolete juxtapapillary focal choroiditis and chorioretinitis	DOID_1978
obsolete gouty nephropathy	DOID_581
obsolete lipoma of the mediastinum	DOID_1977
intermittent squint	DOID_1942
obsolete intermittent alternating exotropia	DOID_1941
Aland Island eye disease	DOID_0050630	[An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.]
primary cutaneous amyloidosis	DOID_0050639	[An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.]
Allan-Herndon-Dudley syndrome	DOID_0050631	[A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.]