Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
plant callus	PO_0005052	[A portion of plant tissue (PO:0009007) that consists of mass of undifferentiated plant cells (PO:0009002).]
X-linked parkinsonism-spasticity syndrome	MONDO_0010482	[X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.]
obsolete_primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	Orphanet_391408
meristematic apical cell	PO_0030007	[A single meristematic cell (PO:0004010) at the tip of a plant structure where apical growth occurs.]
meristematic cell	PO_0004010	[A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall.]
chloronema	PO_0030004	[A portion of protonema tissue that consists of only chloronema cells.]
protonema	PO_0030003	[A portion of chlorenchyma tissue that develops directly from a spore and grows by division of an apical cell to form filaments that are one cell wide and dichotomously branching.]
lethal Kniest-like dysplasia	MONDO_0009498	[Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.]
MEND syndrome	MONDO_0010498
obsolete_atypical juvenile parkinsonism	Orphanet_391411
SSR4-CDG	MONDO_0010490	[A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).]
HSD10 disease	Orphanet_391417
somite 12	UBERON_2000851	[Undifferentiated mesodermal component of early trunk segment 12 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995.]
Hypoplastic anterior commissure	HP_0030303	[Underdevelopment of the anterior commissure.]
obsolete_adult-onset distal myopathy due to VCP mutation	Orphanet_329478
somite 4	UBERON_2000857	[Undifferentiated mesodermal component of early trunk segment 4 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995.]
Helicobacter pylori P12	NCBITaxon_570508
Salmonella enterica subsp. enterica serovar Typhi str. CT18	NCBITaxon_220341
strongyloidiasis	EFO_0007501	[An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection., A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.]
tabes dorsalis	EFO_0007505	[A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction., A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints.]