Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
elongating embryo Ce	EFO_0005506	[C. elegans 350-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The stage that embryo starts elongation till elongation is over.]
dauer larva	EFO_0005507	[C. elegans third stage larva specialized for dispersal and long term survival.]
fully-elongated embryo Ce	EFO_0005504	[C. elegans 620-800min(hatch) after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. A stage after elongation is over. The last stage of embryogenesis. Also called pre-hatched embryo, late embryo or morphogenetic embryo.]
enclosing embryo Ce	EFO_0005505	[C. elegans 290-350min after first cleavage at 20 Centigrade. Proliferate from 421 cells to 560 cells. The stage when embryo just finished gastulation and is enclosing.]
combined oxidative phosphorylation defect type 2	MONDO_0012510	[Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.]
hypomyelinating leukodystrophy 5	MONDO_0012514	[Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.]
preterm premature rupture of the membranes	MONDO_0012511	[A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.]
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	MONDO_0012512	[Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.]
obsolete_semilobar holoprosencephaly	Orphanet_220386
oropharynx squamous cell carcinoma	MONDO_0044704	[A squamous cell carcinoma that involves the oropharynx.]
tonsil carcinoma	MONDO_0021337	[A carcinoma that involves the tonsil.]
lung combined type small cell adenocarcinoma	MONDO_0000532	[A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin.]
combined small cell lung carcinoma	MONDO_0003438	[A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma.]
camptodactyly-tall stature-scoliosis-hearing loss syndrome	MONDO_0012504	[Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.]
agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	MONDO_0012508	[Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.]
obsolete_disorder of glycolysis	Orphanet_308459
Ureaplasma parvum	NCBITaxon_134821
oculomotor nuclear complex	UBERON_0001715	[Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534).]
eyelid	UBERON_0001711	[A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane.]
obsolete_disorder of fructose metabolism	Orphanet_308463