Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
3-hydroxy steroid	CHEBI_36834	[Any hydroxy steroid carrying a hydroxy group at position 3.]
spinocerebellar ataxia type 4	DOID_0050957	[An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene.]
spinocerebellar ataxia type 6	DOID_0050956	[An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene.]
cavernous sinus	UBERON_0003712
autosomal dominant hypophosphatemic rickets	DOID_0050948	[A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.]
hereditary hypophosphatemic rickets with hypercalciuria	DOID_0050947	[A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.]
elongated_polypeptide_C_terminal	SO_0001610	[A sequence variant with in the CDS that causes elongation of the resulting polypeptide sequence at the C terminus.]
elongated_polypeptide	SO_0001609	[A sequence variant with in the CDS that causes elongation of the resulting polypeptide sequence.]
elongated_polypeptide_N_terminal	SO_0001611	[A sequence variant with in the CDS that causes elongation of the resulting polypeptide sequence at the N terminus.]
autosomal recessive hypophosphatemic rickets	DOID_0050949	[A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.]
elongated_in_frame_polypeptide_C_terminal	SO_0001612	[A sequence variant with in the CDS that causes in frame elongation of the resulting polypeptide sequence at the C terminus.]
elongated_out_of_frame_polypeptide_C_terminal	SO_0001613	[A sequence variant with in the CDS that causes out of frame elongation of the resulting polypeptide sequence at the C terminus.]
elongated_in_frame_polypeptide_N_terminal_elongation	SO_0001614	[A sequence variant with in the CDS that causes in frame elongation of the resulting polypeptide sequence at the N terminus.]
elongated_out_of_frame_polypeptide_N_terminal	SO_0001615	[A sequence variant with in the CDS that causes out of frame elongation of the resulting polypeptide sequence at the N terminus.]
polypeptide_fusion	SO_0001616	[A sequence variant that causes a fusion of two polypeptide sequences.]
polypeptide_sequence_variant	SO_0001603	[A sequence variant with in the CDS that causes a change in the resulting polypeptide sequence.]
endocervical adenocarcinoma	DOID_0050940	[An endocervical carcinoma that derives_from epithelial cells of glandular origin.]
polypeptide_truncation	SO_0001617	[A sequence variant of the CD that causes a truncation of the resulting polypeptide.]
inactive_catalytic_site	SO_0001618	[A sequence variant that causes the inactivation of a catalytic site with respect to a reference sequence.]
spastic ataxia 3	DOID_0050942	[A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.]