Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Boomerang dysplasia	DOID_0050680	[An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14.]
CD3zeta deficiency	DOID_0060007	[A severe combined immunodeficiency that affects the development and function of T cells.]
Bothnia retinal dystrophy	DOID_0050683	[A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene.]
obsolete artemis deficiency	DOID_0060006	[A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA.]
Athabaskan brainstem dysgenesis syndrome	DOID_0050682	[A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.]
small cell carcinoma	DOID_0050685	[A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.]
Bowen-Conradi syndrome	DOID_0050684	[A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13.]
tyrosine_tRNA_primary_transcript	SO_0000229	[A primary transcript encoding tyrosyl tRNA (SO:000272).]
tryptophan_tRNA_primary_transcript	SO_0000228	[A primary transcript encoding tryptophanyl tRNA (SO:000271).]
inactive_ligand_binding_site	SO_0001560	[A sequence variant that causes the inactivation of a ligand binding site with respect to a reference sequence.]
polypeptide_loss_of_function_variant	SO_0001559	[A sequence variant that causes the loss of a polypeptide function with respect to a reference sequence.]
threonine_tRNA_primary_transcript	SO_0000227	[A primary transcript encoding threonyl tRNA (SO:000270).]
polypeptide_partial_loss_of_function	SO_0001561	[A sequence variant that causes some but not all loss of polypeptide function with respect to a reference sequence.]
serine_tRNA_primary_transcript	SO_0000226	[A primary transcript encoding seryl tRNA (SO:000269).]
polypeptide_post_translational_processing_variant	SO_0001562	[A sequence variant that causes a change in post translational processing of the peptide with respect to a reference sequence.]
polypeptide_function_variant	SO_0001554	[A sequence variant which changes polypeptide functioning with respect to a reference sequence.]
proline_tRNA_primary_transcript	SO_0000225	[A primary transcript encoding prolyl tRNA (SO:0000268).]
phenylalanine_tRNA_primary_transcript	SO_0000224	[A primary transcript encoding phenylalanyl tRNA (SO:0000267).]
methionine_tRNA_primary_transcript	SO_0000223	[A primary transcript encoding methionyl tRNA (SO:0000266).]
obsolete tuberculous lung cavity	DOID_587	[A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum.]