Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
chromosome 1q41-q42 deletion syndrome	MONDO_0012927	[1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.]
inflammatory bowel disease 25	MONDO_0012941	[Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.]
Multiple renal cysts	HP_0005562	[The presence of many cysts in the kidney.]
malignant hypertensive renal disease	MONDO_0000959
malignant hypertension	EFO_1001031	[Severe hypertension that is characterized by rapid onset of extremely high blood pressure., A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction.]
hypertensive nephropathy	MONDO_0024633	[Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria.]
Citrobacter rodentium	NCBITaxon_67825
spindle cell lipoma	MONDO_0000962	[A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.]
breast-ovarian cancer, familial, susceptibility to, 2	MONDO_0012933	[Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.]
hereditary breast ovarian cancer syndrome	MONDO_0003582	[An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.]
obsolete_marginal papular palmoplantar keratoderma	Orphanet_307995
obsolete_macrocephaly-autism syndrome	Orphanet_210548
Actinobacillus pleuropneumoniae	NCBITaxon_715
Aggregatibacter actinomycetemcomitans	NCBITaxon_714
combined immunodeficiency with skin granulomas	MONDO_0009306
Desulfovibrio alaskensis G20	NCBITaxon_207559
granulocytopenia with immunoglobulin abnormality	MONDO_0009305
chromosome 17P13.3, telomeric, duplication syndrome	MONDO_0012944
XY type gonadal dysgenesis-associated anomalies syndrome	MONDO_0009302	[Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.]
chromosome 6pter-p24 deletion syndrome	MONDO_0012948	[Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.]