Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
acrofacial dysostosis, Catania type	DOID_0060384	[An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.]
acrofacial dysostosis Rodriguez type	DOID_0060383	[An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance.]
orofaciodigital syndrome IX	DOID_0060382	[An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.]
orofaciodigital syndrome XI	DOID_0060381	[An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.]
orofaciodigital syndrome X	DOID_0060380	[An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.]
obsolete Flaviviridae infectious disease	DOID_1886	[A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors.]
hepatitis C	DOID_1883	[A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.]
stop_codon	SO_0000319	[In mRNA, a set of three nucleotides that indicates the end of information for protein synthesis.]
experimentally_determined	SO_0000312	[Attribute to describe a feature that has been experimentally verified.]
mRNA_with_plus_1_frameshift	SO_0000321	[An mRNA with a plus 1 frameshift.]
mathematically_defined_repeat	SO_0001642	[A mathematically defined repeat (MDR) is a experimental feature that is determined by querying overlapping oligomers of length k against a database of shotgun sequence data and identifying regions in the query sequence that exceed a statistically determined threshold of repetitiveness.]
intronic_splice_enhancer	SO_0000320	[Sequences within the intron that modulate splice site selection for some introns.]
telomerase_RNA_gene	SO_0001643	[A telomerase RNA gene is a non coding RNA gene the RNA product of which is a component of telomerase.]
targeting_vector	SO_0001644	[An engineered vector that is able to take part in homologous recombination in a host with the intent of introducing site specific genomic modifications.]
DArT_marker	SO_0001646	[A genetic marker, discovered using Diversity Arrays Technology (DArT) technology.]
kozak_sequence	SO_0001647	[A kind of ribosome entry site, specific to Eukaryotic organisms that overlaps part of both 5' UTR and CDS sequence.]
nested_transposon	SO_0001648	[A transposon that is disrupted by the insertion of another element.]
sigmoid disease	DOID_1897
allergic contact dermatitis of eyelid	DOID_1895	[A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant.]
eczematous dermatitis of eyelid	DOID_1893