Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
partial deletion of chromosome 3	MONDO_0016868
partial deletion of the long arm of chromosome 4	MONDO_0016903	[Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.]
partial deletion of chromosome 4	MONDO_0016869
obsolete_bradyopsia	Orphanet_75374
obsolete_oligocone trichromacy	Orphanet_75378
obsolete_progressive bifocal chorioretinal atrophy	Orphanet_75373
obsolete_oculoauriculofrontonasal syndrome	Orphanet_398156
Streptomyces scabiei	NCBITaxon_1930
Portal vein thrombosis	HP_0030242	[Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.]
partial deletion of the long arm of chromosome 13	MONDO_0016911	[A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.]
syndrome caused by partial chromosomal deletion	MONDO_0000761	[A chromosomal disorder consisting of the absence of a part of a chromosome.]
partial deletion of chromosome 16	MONDO_0016878
trans-4-hydroxy-D-proline	CHEBI_27992
partial deletion of chromosome 11	MONDO_0016876
Abnormality of muscle size	HP_0030236	[Abnormalities of the overall muscle bulk based on clinical observation.]
3-methylbenzyl alcohol	CHEBI_27995	[Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI), Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.]
obsolete_focal facial dermal dysplasia	Orphanet_398166
elementary body	BTO_0000377	[ The infectious form of chlamydiaceae. Infection occurs when the small, rigid-walled extracellular form (elementary body) enters the cell and changes into a larger, thin-walled form (initial body) that divides by fission. The daughter cells thus formed reorganize and condense to become elementary bodies that then infect other cells. The organisms are parasites of humans and other vertebrates, capable of producing a variety of diseases. They have also been found in arthropods. The family contains the genus Chlamydia. ]
tolbutamide	CHEBI_27999	[An urea that has formula C12H18N2O3S.]
hypoplastic left heart syndrome	MONDO_0004933	[Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.]