Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
gingival fibromatosis-hypertrichosis syndrome	MONDO_0007610	[Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.]
N-acetyl-D-glucosamine kinase measurement	EFO_0008239	[quantification of the amount of N-acetyl-D-glucosamine kinase in a sample]
osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome	MONDO_0019603	[Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.]
obsolete other inborn metabolic disease	MONDO_0019602
human gut metagenome	NCBITaxon_408170
Epinephelus tauvina	NCBITaxon_203262
Oryza nivara	NCBITaxon_4536
mannose-binding protein C measurement	EFO_0008224	[quantification of the amount of mannose-binding protein C in a sample]
(S)-1-pyrroline-5-carboxylate	CHEBI_17388	[A 1-pyrroline-5-carboxylate resulting from the removal of the proton from the carboxy group of (S)-1-pyrroline-5-carboxylic acid.]
MAP kinase-activated protein kinase 2 measurement	EFO_0008225	[quantification of the amount of MAP kinase-activated protein kinase 2 in a sample]
marine metagenome	NCBITaxon_408172
focal facial dermal dysplasia type I	MONDO_0007627	[Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.]
MAP kinase-activated protein kinase 3 measurement	EFO_0008226	[quantification of the amount of MAP kinase-activated protein kinase 3 in a sample]
Oryza punctata	NCBITaxon_4537	[Oryza punctata is a grass in the rice genus Oryza, also known as red rice, related to cultivated rice Oryza sativa.]
matrilysin measurement	EFO_0008227	[quantification of the amount of matrilysin in a sample]
macrophage metalloelastase measurement	EFO_0008220	[quantification of the amount of macrophage metalloelastase in a sample]
Musa sp.	NCBITaxon_46838
familial congenital palsy of trochlear nerve	MONDO_0007626	[An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.]
congenital trochlear nerve palsy	MONDO_0020256
macrophage migration inhibitory factor measurement	EFO_0008221	[quantification of the amount of macrophage migration inhibitory factor in a sample]