Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Abnormal bleeding	HP_0001892	[An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.]
Abnormality of blood circulation	HP_0011028	[An abnormality of blood circulation.]
sex-limited autosomal recessive inheritance	GENO_0000953	[An autosomal recessive inheritance pattern wherein the trait manifests only in homozygotes, and in a sex-specific manner (i.e. only in males or only in females).]
sex-limited autosomal dominant inheritance	GENO_0000952	[An autosomal dominant inheritance pattern wherein the trait manifests in heterozygotes in a sex-specific manner (i.e. only in males or only in females).]
Abnormality of the gastrointestinal tract	HP_0011024	[An abnormality of the gastrointestinal tract.]
Abnormality of cardiovascular system physiology	HP_0011025	[Abnormal functionality of the cardiovascular system.]
loss of appetite	SYMP_0000309
alteration of appetite	SYMP_0000244
inibility to stand	SYMP_0000307
motor weakness	SYMP_0000329
inability to swallow	SYMP_0000308
enhancer_blocking_element	SO_0002190	[A transcriptional cis regulatory region that when located between an enhancer and a gene's promoter prevents the enhancer from modulating the expression of the gene. Sometimes referred to as an insulator but may not include the barrier function of an insulator.]
impaired gag reflex	SYMP_0000305
imprinting_control_region	SO_0002191	[A regulatory region that controls epigenetic imprinting and affects the expression of target genes in an allele- or parent-of-origin-specific manner. Associated regulatory elements may include differentially methylated regions and non-coding RNAs.]
inability to feed	SYMP_0000306
flanking_repeat	SO_0002192	[A repeat lying outside the sequence for which it has functional significance (eg. transposon insertion target sites).]
repeat_region	SO_0000657	[A region of sequence containing one or more repeat units.]
hypoxemia	SYMP_0000303
processed_pseudogenic_rRNA	SO_0002193	[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_rRNA	SO_0000777	[A non functional descendant of an rRNA.]