Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
peptide_collection	SO_0001501	[A collection of peptide sequences.]
Usher syndrome type 3	DOID_0110828	[An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life.]
high_identity_region	SO_0001502	[An experimental feature with high sequence identity to another sequence.]
hereditary spastic paraplegia 9B	DOID_0110825	[A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.]
obsolete persistent disorder of initiating or maintaining sleep	DOID_536
Usher syndrome type 1	DOID_0110826	[An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.]
hereditary spastic paraplegia 8	DOID_0110823	[A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24.]
obsolete persistent disorder of initiating or maintaining wakefulness	DOID_534
obsolete cutaneous fibrohistiocytic neoplasm	DOID_1908
reference_genome	SO_0001505	[A collection of sequences (often chromosomes) taken as the standard for a given organism and genome assembly.]
hereditary spastic paraplegia 9A	DOID_0110824	[A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.]
malignant skin fibrous histiocytoma	DOID_1906
respiratory system muscle	UBERON_0003831
hereditary spastic paraplegia 5A	DOID_0110810	[A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12.]
blepharospasm	DOID_529	[A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.]
thoracic segment muscle	UBERON_0003830
hereditary spastic paraplegia 6	DOID_0110811	[A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2.]
hydrarthrosis	DOID_528
hereditary spastic paraplegia 73	DOID_0110818	[A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13.]
hereditary spastic paraplegia 74	DOID_0110819	[A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42.]