Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
alcoholic psychosis	DOID_252	[An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal.]
alcohol-induced mental disorder	DOID_251
giant cell reparative granuloma	DOID_1866
obsolete chronic brain damage	DOID_250
sexual dysfunction	DOID_1876
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	DOID_0060349	[A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.]
hypoparathyroidism-retardation-dysmorphism syndrome	DOID_0060348	[A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3.]
obsolete abortion complicated by metabolic disorder	DOID_1873
acrorenal syndrome	DOID_0060347	[A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.]
Native American myopathy	DOID_0060346	[A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.]
bacillary angiomatosis	DOID_0060345	[A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs.]
acrodermatitis chronica atrophicans	DOID_0060344	[An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.]
transposable_element_insertion_site	SO_0000368	[The junction in a genome where a transposable_element has inserted.]
insertion_site	SO_0000366	[The junction where an insertion occurred.]
attI_site	SO_0000367	[A region within an integron, adjacent to an integrase, at which site specific recombination involving an attC_site takes place.]
ChIP_seq_region	SO_0001697	[A region of sequence identified by CHiP seq technology to contain a protein binding site.]
experimentally_defined_binding_region	SO_0001696	[A region that has been implicated in binding although the exact coordinates of binding may be unknown.]
RNA_6S	SO_0000376	[A small (184-nt in E. coli) RNA that forms a hairpin type structure. 6S RNA associates with RNA polymerase in a highly specific manner. 6S RNA represses expression from a sigma70-dependent promoter during stationary phase.]
ASPE_primer	SO_0001698	["A primer containing an SNV at the 3' end for accurate genotyping.]
rRNA_5_8S	SO_0000375	[5_8S ribosomal RNA (5. 8S rRNA) is a component of the large subunit of the eukaryotic ribosome. It is transcribed by RNA polymerase I as part of the 45S precursor that also contains 18S and 28S rRNA. Functionally, it is thought that 5.8S rRNA may be involved in ribosome translocation. It is also known to form covalent linkage to the p53 tumour suppressor protein. 5_8S rRNA is also found in archaea.]