Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
qualitative or quantitative defects of gamma-sarcoglycan	MONDO_0016143
leukocyte esterase measurement	EFO_0010137	[Quantification of the amount of leukocyte esterase present in a sample.]
acth-independent macronodular adrenal hyperplasia 2	EFO_0009148	[ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013).]
Cushing syndrome due to macronodular adrenal hyperplasia	EFO_0009041	[ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).]
muscular dystrophy, congenital, with cataracts and intellectual disability	EFO_0009149	[A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. [ url:https://www.ncbi.nlm.nih.gov/pubmed/28190459 ]]
Congenital muscular dystrophy due to dystroglycanopathy	Orphanet_370953
nitrite measurement	EFO_0010138	[Quantification of the amount of nitrite present in a sample.]
urine specific gravity measurement	EFO_0010135	[Quantification of the concentration of particles in the urine.]
urinary pH measurement	EFO_0010136	[Quantification of pH of an organism, typically in urine or blood. This measures the degree of acidity or alkalinity.]
Lethal neonatal spasticity-epileptic encephalopathy syndrome	EFO_0009144	[An autosomal-recessive epileptic encephalopathy, which is characterized by drug-resistant seizures, and rigidity.]
kidney transplant	EFO_0010134	[A surgical procedure in which one or both kidneys from a donor are implanted into a recipient.]
limb-girdle muscular dystrophy-dystroglycanopathy, type c1	EFO_0009145	[An autosomal recessive limb-girdle muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is characterized by intellectual disability without structural brain abnormalities and limb-girdle muscular dystrophy.]
premenstrual tension	MONDO_0004169	[A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.]
decreased walking ability	EFO_0010131	[A decrease in an individual's ability to walk.]
pik3ca related overgrowth spectrum	EFO_0009146	[PIK3CA-related overgrowth spectrum (PROS) is a group of rare diseases associated with having parts of the body that grow too quickly (overgrowth). Specifically, people with these diseases have overgrowth of the brain and other parts of the body.]
obsolete_Tay-Sachs disease, b variant, infantile form	Orphanet_309178
partial adenosine deaminase deficiency	EFO_0009147	[Partial deficiency of the purine salvage enzyme adenosine deaminase.]
Combined T and B cell immunodeficiency	Orphanet_101972
decreased fine motor function	EFO_0010132	[A decrease in an individual's ability to perform fine motor function tasks.]
hereditary fallopian tube carcinoma	MONDO_0004166	[Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.]