Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
stem elongation stage	PO_0007089	[The stage at which the internodes elongate.]
obsolete_swim bladder	EFO_0003483	[The swim bladder is a double-chambered organ located in the coelom and used to maintain buoyancy and may function as an acoustic resonator. The zebrafish does not appear to have a gas gland, but it is not yet clear if there are gas producing cells distributed more widely.]
LP.03 three leaves visible stage	PO_0007106	[The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground.]
obsolete_ventral mesoderm	EFO_0003486
obsolete_trunk mesenchyme	EFO_0003485
obsolete_apical ectodermal ridge dorsal fin	EFO_0003488
early-onset Lafora body disease	MONDO_0014717	[Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.]
progressive myoclonus epilepsy	MONDO_0020074	[A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.]
obsolete_apical ectodermal ridge pectoral fin bud	EFO_0003487
obsolete_mesomelic dysplasia, Savarirayan type	Orphanet_85170
obsolete_blood island	EFO_0003489	[Nests of developing blood cells arising late in the segmentation period from the intermediate mass, and located in the anterior-ventral tail, just posterior to the yolk extension.]
obsolete_microcephalic osteodysplastic dysplasia, Saul-Wilson type	Orphanet_85172
obsolete_pseudodiastrophic dysplasia	Orphanet_85174
obsolete_genetic epidermal appendage anomaly	Orphanet_183447
Delayed speech - facial asymmetry - strabismus - ear lobe creases	Orphanet_3038	[This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.]
obsolete_IMAGe syndrome	Orphanet_85173
hypomyelinating leukodystrophy 12	MONDO_0014732	[Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.]
MACS syndrome	Orphanet_217335	[RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.]
Genetic dermis elastic tissue disorder	Orphanet_228215
seizures-scoliosis-macrocephaly syndrome	MONDO_0014731	[Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.]