Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Cryptomicrotia - brachydactyly - excess fingertip arch	Orphanet_1547	[Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.]
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	MONDO_0008730	[A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.]
3-phosphoinositide-dependent protein kinase 1 measurement	EFO_0020116	[The determination of the amount of 3-phosphoinositide-dependent protein kinase 1 in a sample]
Crisponi syndrome	Orphanet_1545
Cold-induced sweating syndrome-hyperthermia spectrum	Orphanet_401993
40s ribosomal protein S3 measurement	EFO_0020117	[The determination of the amount of 40s ribosomal protein S3 in a sample]
age of onset of glaucoma	OBA_2040154	[The age at which glaucoma manifestations first appear.]
40s ribosomal protein S7 measurement	EFO_0020118	[The determination of the amount of 40s ribosomal protein S7 in a sample]
age of onset of stroke disorder	OBA_2040155	[The age at which stroke disorder manifestations first appear.]
40s ribosomal protein SA measurement	EFO_0020119	[The determination of the amount of 40s ribosomal protein SA in a sample]
age of onset of coronary stenosis	OBA_2040156	[The age at which coronary stenosis manifestations first appear.]
apolipoprotein D measurement	EFO_0020156	[The determination of the amount of apolipoprotein D in a sample]
apolipoprotein E (isoform E3) measurement	EFO_0020157	[The determination of the amount of apolipoprotein E (isoform E3) in a sample]
Pathologic fracture	HP_0002756	[A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.]
Increased susceptibility to fractures	HP_0002659	[An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.]
apolipoprotein E (isoform E4) measurement	EFO_0020158	[The determination of the amount of apolipoprotein E (isoform E4) in a sample]
apoptosis regulator BCL-2 measurement	EFO_0020159	[The determination of the amount of apoptosis regulator BCL-2 in a sample]
Delayed skeletal maturation	HP_0002750	[A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.]
anterior gradient protein 2 homolog measurement	EFO_0020152	[The determination of the amount of anterior gradient protein 2 homolog in a sample]
anti-muellerian hormone type-2 receptor measurement	EFO_0020153	[The determination of the amount of anti-muellerian hormone type-2 receptor in a sample]