Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
total cholesterol measurement	EFO_0004574	[A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL.]
HDL cholesterol change measurement	EFO_0007805	[quantification of the change in HDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug]
high density lipoprotein cholesterol measurement	EFO_0004612	[The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.]
LDL cholesterol change measurement	EFO_0007804	[quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug]
low density lipoprotein cholesterol measurement	EFO_0004611	[The measurement of LDL cholesterol in blood used as a risk indicator for heart disease.]
immune deficiency disease	MONDO_0009453
Vici syndrome	MONDO_0009452	[A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.]
heart left ventricle	UBERON_0002084	[A cardiac ventricle that is in the left side of the heart.]
spermatogenic failure 5	MONDO_0009461	[Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).]
obsolete_focal palmoplantar keratoderma	Orphanet_307837
obsolete_qualitative or quantitative defects of delta-sarcoglycan	Orphanet_207070
heart right ventricle	UBERON_0002080	[A cardiac ventricle that is in the right side of the heart.]
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	MONDO_0010455	[X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.]
Ogden syndrome	MONDO_0010457	[Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.]
Qualitative or quantitative defects of caveolin-3	Orphanet_207078
obsolete_qualitative or quantitative defects of dysferlin	Orphanet_207073
phloem	PO_0005417	[A portion of vascular tissue (PO:0009015) that has as parts sieve elements (PO:0025406).]
moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	MONDO_0010448	[Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.]
benign recurrent intrahepatic cholestasis type 1	MONDO_0009469	[Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.]
natal teeth-intestinal pseudoobstruction-patent ductus syndrome	MONDO_0009467