Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
midbrain	UBERON_0001891	[The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO].]
Populus fremontii x Populus angustifolia	NCBITaxon_352374
Split hand - split foot - deafness	Orphanet_71271	[Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.]
obsolete_Rh deficiency syndrome	Orphanet_71275
obsolete_congenital brain dysgenesis due to glutamine synthetase deficiency	Orphanet_71278
obsolete_encephalopathy due to GLUT1 deficiency	Orphanet_71277
macula of utricle of membranous labyrinth	UBERON_0002214	[The neuroepithelial sensory receptor in the inferolateral wall of the utricle; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies; normally sensitive to linear acceleration in the longitudinal axis of the body and to gravitational influences.]
internal ear	UBERON_0001846	[Complex labyrinthine structure that comprises sensory endorgans specialized for vestibular, auditory, and acoustico-vestibular sensation.]
Auriculoocular anomalies - cleft lip	Orphanet_71270
chordamesoderm	UBERON_0004880	[The central region of trunk mesoderm. This tissue forms the notochord.]
axial mesoderm	UBERON_0003068	[The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord.]
Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability	Orphanet_71267
3-hydroxyisobutyrate	CHEBI_11805
spiral organ of cochlea	UBERON_0002227	[The organ of Corti (or spiral organ) is the organ in the inner ear of mammals that contains auditory sensory cells, or 'hair cells.' [WP,unvetted].]
methylcobalamin deficiency type cblG	MONDO_0009609	[Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.]
methionine adenosyltransferase deficiency	MONDO_0009607	[Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.]
Dehalobacter restrictus	NCBITaxon_55583
3-hydroxyisobutyryl-CoA hydrolase deficiency	MONDO_0009603	[Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.]
valine metabolism disease	MONDO_0037870	[A disease that has its basis in the disruption of valine metabolic process.]
metaphyseal dysplasia without hypotrichosis	MONDO_0009601