Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
21q22.13q22.2 microdeletion syndrome	Orphanet_268261
Shigella sonnei	NCBITaxon_624
Shigella flexneri	NCBITaxon_623
obsolete_keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Orphanet_281201
Yersinia enterocolitica	NCBITaxon_630
Yersinia pseudotuberculosis	NCBITaxon_633
Yersinia pestis	NCBITaxon_632
Penile hypospadias	HP_0003244	[Location of the urethral opening on the inferior aspect of the penis.]
abdominal obesity-metabolic syndrome	MONDO_0000816
Salmonella enterica subsp. enterica serovar Pullorum	NCBITaxon_605
Salmonella enterica subsp. enterica serovar Thompson	NCBITaxon_600
response to osmotic stress	GO_0006970	[ Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell. ]
Heterotaxy	HP_0030853	[An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.]
juvenile-onset Parkinson disease	MONDO_0000828
young-onset Parkinson disease	MONDO_0017279	[A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.]
diarrhea-vomiting due to trehalase deficiency	MONDO_0012803	[This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.]
hypertrophic cardiomyopathy 12	MONDO_0012804	[Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.]
oculoauricular syndrome	MONDO_0012802	[Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).]
epidermolysis bullosa simplex 5C, with pyloric atresia	MONDO_0012807	[A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.]
Salmonella enterica subsp. enterica serovar Heidelberg	NCBITaxon_611