Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
myelomeningocele	DOID_0060326	[A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.]
cervical polyp	DOID_0060325	[A cervix disease characterized by a benign polyp on the surface of the cervical canal.]
dental abscess	DOID_0060324	[A tooth disease characterized by a localized collection of pus associated with a tooth.]
breast abscess	DOID_0060323	[A breast disease characterized by a collection of pus in the breast.]
mastoiditis	DOID_0060322	[A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.]
patella	UBERON_0002446
umbilical hernia	DOID_0060321	[A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.]
inguinal hernia	DOID_0060320	[An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.]
reflex sympathetic dystrophy	DOID_1811
natural product fundamental parent	CHEBI_35507
steroid fundamental parent	CHEBI_35508
spinocerebellar ataxia type 8	DOID_0050959	[An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene.]
mature_miRNA_variant	SO_0001620	[A transcript variant located with the sequence of the mature miRNA.]
spinocerebellar ataxia type 7	DOID_0050958	[An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene.]
NMD_transcript_variant	SO_0001621	[A variant in a transcript that is the target of NMD.]
UTR_variant	SO_0001622	[A transcript variant that is located within the UTR.]
incomplete_terminal_codon_variant	SO_0001626	[A sequence variant where at least one base of the final codon of an incompletely annotated transcript is changed.]
X-linked hereditary ataxia	DOID_0050953	[A hereditary ataxia that is characterized by X-linked inheritance.]
spinocerebellar ataxia type 2	DOID_0050955	[An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene.]
spinocerebellar ataxia type 1	DOID_0050954	[An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.]