Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
congenital ichthyosis-microcephalus-tetraplegia syndrome	MONDO_0016417
hereditary breast carcinoma	MONDO_0016419	[Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.]
peripheral hypothyroidism	MONDO_0016412	[Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.]
hypotrichosis-intellectual disability, Lopes type	MONDO_0016414	[Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.]
central congenital hypothyroidism	MONDO_0016410	[Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.]
hypothyroidism due to deficient transcription factors involved in pituitary development or function	MONDO_0016411	[Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.]
liver fibrosarcoma	MONDO_0004435	[A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.]
liver sarcoma	MONDO_0002397	[A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma.]
primary congenital hypothyroidism	MONDO_0016409	[Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.]
Delusions	HP_0000746	[A false belief that is held despite evidence to the contrary.]
milligram per kilogram	EFO_0002902
unit of molarity	UO_0000061	[A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution., A derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution., A concentration unit which is a standard measure of the number of moles of a given substance per liter of solution.]
Personality changes	HP_0000751	[An abnormal shift in patterns of thinking, acting, or feeling.]
micromole per liter	EFO_0002901
molar mass unit	UO_0000055	[A derived unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules., A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules.]
weight percent	EFO_0002904
percent	UO_0000187	[A dimensionless ratio unit which denotes numbers as fractions of 100.]
Autism with high cognitive abilities	HP_0000753
obsolete_whole organism	EFO_0002906
progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	MONDO_0016424	[Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.]