Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
target_site_duplication	SO_0000434	[A sequence of the target DNA that is duplicated when a transposable element or phage inserts; usually found at each end the insertion.]
disease_causing_variant	SO_0001772
non_LTR_retrotransposon_polymeric_tract	SO_0000433	[A polymeric tract, such as poly(dA), within a non_LTR_retrotransposon.]
lethal_variant	SO_0001773
U5_three_prime_LTR_region	SO_0000432
oculodentodigital dysplasia	DOID_0060291	[A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.]
tenosynovitis of foot and ankle	DOID_312
blepharophimosis-intellectual disability syndrome, SBBYS type	DOID_0060290	[A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability.]
Ohdo syndrome	DOID_0060289	[A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.]
unique_variant	SO_0001764	[A physical quality which inheres to the variant by virtue of the number instances of the variant within a population.]
rare_variant	SO_0001765
MERRF syndrome	DOID_310
polymorphic_variant	SO_0001766
common_variant	SO_0001767
fixed_variant	SO_0001768
tenosynovial giant cell tumor	DOID_314
obsolete synovitis and tenosynovitis	DOID_313
complement component 6 deficiency	DOID_0060299	[A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C6 gene.]
complement component 4b deficiency	DOID_0060298	[A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4B deficiency.]
complement component 4a deficiency	DOID_0060297	[A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4A deficiency.]