Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
three_prime_intron	SO_0000192
interior_intron	SO_0000191
five_prime_intron	SO_0000190
developmental disorder of mental health	DOID_0060037	[A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.]
congenital stationary night blindness 1B	DOID_0110865	[A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35.]
histidine_tRNA_primary_transcript	SO_0000219	[A primary transcript encoding histidyl tRNA (SO:0000262).]
congenital stationary night blindness 1H	DOID_0110866	[A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.]
glycine_tRNA_primary_transcript	SO_0000218	[A primary transcript encoding glycyl tRNA (SO:0000263).]
congenital stationary night blindness autosomal dominant 2	DOID_0110863	[A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16.]
glutamine_tRNA_primary_transcript	SO_0000217	[A primary transcript encoding glutamyl tRNA (SO:0000260).]
congenital stationary night blindness 1F	DOID_0110864	[A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25.]
epicondylitis	DOID_14087	[A bone inflammation disease that results_in inflammation located_in epicondyle.]
glutamic_acid_tRNA_primary_transcript	SO_0000216	[A primary transcript encoding glutaminyl tRNA (SO:0000260).]
rate_of_transcription_variant	SO_0001550	[A sequence variant that changes the rate of transcription with respect to a reference sequence.]
transcription_variant	SO_0001549	[A variant that changes alters the transcription of a transcript with respect to a reference sequence.]
cysteine_tRNA_primary_transcript	SO_0000215	[A primary transcript encoding cysteinyl tRNA (SO:0000258).]
congenital stationary night blindness autosomal dominant 1	DOID_0110862	[A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1.]
root caries	DOID_14089
increased_transcription_rate_variant	SO_0001551	[A sequence variant that increases the rate of transcription with respect to a reference sequence.]
aspartic_acid_tRNA_primary_transcript	SO_0000214	[A primary transcript encoding aspartyl tRNA (SO:0000257).]