Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
impaired coordination	SYMP_0000304
mitochondrial inheritance	GENO_0000949	[An inheritance pattern with a genetic component determined by alleles of mitochondrial genes.]
inheritance pattern	GENO_0000141	[The pattern in which a genetic trait or condition is passed from one generation to the next, as determined by genetic interactions between alleles of the causal gene, and interactions between these alleles and the environment.]
unprocessed_pseudogenic_rRNA	SO_0002194	[The pseudogene has arisen from a copy of the parent gene by duplication followed by accumulation of random mutation. The changes, compared to their functional homolog, include insertions, deletions, premature stop codons, frameshifts and a higher proportion of non-synonymous versus synonymous substitutions.]
unitary_pseudogenic_rRNA	SO_0002195	[The pseudogene has no parent. It is the original gene, which is functional in some species but disrupted in some way (indels, mutation, recombination) in another species or strain.]
allelic_pseudogenic_rRNA	SO_0002196	[A (unitary) pseudogene that is stable in the population but importantly it has a functional alternative allele also in the population. i.e., one strain may have the gene, another strain may have the pseudogene. MHC haplotypes have allelic pseudogenes.]
processed_pseudogenic_tRNA	SO_0002197	[The pseudogene has arisen by reverse transcription of a mRNA into cDNA, followed by reintegration into the genome. Therefore, it has lost any intron/exon structure, and it might have a pseudo-polyA-tail.]
pseudogenic_tRNA	SO_0000778	[A non functional descendent of a tRNA.]
unprocessed_pseudogenic_tRNA	SO_0002198	[The pseudogene has arisen from a copy of the parent gene by duplication followed by accumulation of random mutation. The changes, compared to their functional homolog, include insertions, deletions, premature stop codons, frameshifts and a higher proportion of non-synonymous versus synonymous substitutions.]
unitary_pseudogenic_tRNA	SO_0002199	[The pseudogene has no parent. It is the original gene, which is functional in some species but disrupted in some way (indels, mutation, recombination) in another species or strain.]
allosomal inheritance	GENO_0000935	[An inheritance pattern wherein the trait is determined by alleles of a single causal gene on a sex chromosome.]
Abnormality of renal cortex morphology	HP_0011035	[An abnormality of the cortex of the kidney.]
Abnormality of fluid regulation	HP_0011032	[An abnormality of the regulation of body fluids.]
Abnormality of metabolism/homeostasis	HP_0001939
Abnormality of malar bones	HP_0012369	[An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla.]
Abnormality of the zygomatic bone	HP_0010668	[An abnormality of the zygomatic bone.]
Abnormality of the midface	HP_0000309	[An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.]
hypopyon	SYMP_0000301
hypothermia	SYMP_0000302	[Hypothermia is a neurological and physiological symptom characterized by a subnormal temperature of the body as defined by a temperature under 36.6 degrees Celcius.]
hyperesthesia	SYMP_0000300	[Hyperesthesia is a general symptom where there is an increased sensitivity to stimulation.]