Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Fibrofolliculoma	HP_0030436	[Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.]
Inverse Klippel-Trénaunay syndrome	Orphanet_329324
Ankyloblepharon - ectodermal defects - cleft lip/palate	Orphanet_1071	[Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.]
obsolete_X-linked osteoporosis with fractures	Orphanet_391330
Aniridia - ptosis - intellectual disability - familial obesity	Orphanet_1067	[Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.]
Glaucoma associated with neural crest cell migration anomaly	Orphanet_98632
Aniridia-intellectual disability syndrome	Orphanet_1068	[Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974.]
Aniridia - cerebellar ataxia - intellectual disability	Orphanet_1065	[Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability.]
obsolete_tufted angioma	Orphanet_1063
response to thioamide	EFO_0007633	[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 thioamide stimulus. Thioamides are generally used as anti-thyroid drugs]
Aniridia - renal agenesis - psychomotor retardation	Orphanet_1064	[Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974.]
obsolete_semantic dementia	Orphanet_100069
postprandial hyperlipidemia	EFO_0007632	[elevated levels of blood lipids as a result of a high-fat meal]
obsolete_hereditary neurocutaneous angioma	Orphanet_1062
phospholipid measurement	EFO_0004639	[Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies.]
traditional Chinese medicine type	EFO_0007637	[one of several constitutional types used to classify individuals in traditional Chinese medicine]
obsolete_microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	Orphanet_329332
attention function measurement	EFO_0007636	[quantification of an individual's attention function through administration of one or more standardised tests such as the Connors Continuous Performance Test-II (CPT-II)]
concentration dose ratio	EFO_0007635	[Quantification of the metabolism rate of drugs such as psychotropic drugs, defined as the quotient of a drug's serum concentration (in nmol/L) by its prescribed daily dosage (in mg/day). This measure can also be standardised to allow comparison across multiple drugs by dividing individual CDR values by a reference CDR for the specific drug. ]
metabolic rate measurement	EFO_0005115	[a quantification of metabolic rate]