Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_oculocerebrorenal syndrome	Orphanet_534
risk-taking behaviour	EFO_0008579	[The tendency to take risks. Risk-taking behaviour is a characteristic of several psychiatric disorders such as ADHD and bipolar disorder, as well as problem behaviours such as smoking and drug abuse.]
Osteopathia striata - cranial sclerosis	Orphanet_2780	[Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.]
Trichoderma reesei QM6a	NCBITaxon_431241
malnutrition	EFO_0008572	[Inadequate nutrition resulting from poor diet, malabsorption, or abnormal nutrient distribution. [ NCI ]]
Miller-Dieker syndrome	Orphanet_531
gangrene	EFO_0008574	[Death of tissue, usually in considerable mass and generally associated with loss of vascular (nutritive) supply and followed by bacterial invasion and putrefaction. [ NCI ]]
obsolete_lipoid proteinosis	Orphanet_530
obsolete_Osteochondrosis	EFO_0008575	[A condition that is characterized by defective bone growth that affects the growth centers of bone. [ NCI ]]
GM17277	CLO_0013208	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
X-11244 measurement	EFO_0021539	[Quantification of the amount of X-11244 in a sample.]
obsolete_lateral meningocele syndrome	Orphanet_2789
Osteoporosis - pseudoglioma	Orphanet_2788
Vitreoretinopathy	Orphanet_98668
irritable bowel syndrome symptom measurement	EFO_0021536	[Quantification of irritable bowel syndrome symptoms for instance using the IBS Symptom Severity Scale assessing pain frequency and intensity, bowel dysfunction or bloating.]
GM17278	CLO_0013204	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
Osteoporosis - macrocephaly - blindness - joint hyperlaxity	Orphanet_2787
response to Par-4 dependent chemotherapy	EFO_0021535	[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 Par-4 dependent chemotherapy stimulus.]
Osteoporosis - oculocutaneous hypopigmentation syndrome	Orphanet_2786
N-acetylornithine measurement	EFO_0021538	[Quantification of the amount of N-acetylornithine in a sample.]