Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
GM17736	CLO_0017043	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16]
obsolete_progeria-associated arthropathy	Orphanet_99706
GM17735	CLO_0017046	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16]
GM17734	CLO_0017045	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16]
obsolete_multiple acyl-CoA dehydrogenase deficiency	Orphanet_26791
obsolete_very long chain acyl-CoA dehydrogenase deficiency	Orphanet_26793
obsolete_short chain acyl-CoA dehydrogenase deficiency	Orphanet_26792
obsolete_Leber plus disease	Orphanet_99718	[Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.]
LP.01 one leaf visible stage	PO_0007094	[The stage at which leaves at one node, other than the cotyledonary node, are visible above ground.]
LP.08 eight leaves visible stage	PO_0007095	[The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground.]
Intellectual disability - obesity - brain malformations - facial dysmorphism	Orphanet_352530
nifedipine	CHEBI_7565	[A dihydropyridine that has formula C17H18N2O6.]
LP.02 two leaves visible stage	PO_0007098	[The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground.]
obsolete_Huntington disease-like syndrome due to C9ORF72 expansions	Orphanet_401901
nimodipine	CHEBI_7575
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	Orphanet_364531
somatic cell	CL_0002371	[A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell).]
KBM-7	EFO_0005903	[KBM-7 cells were derived from a 39-year-old man with chronic myeloid leukemia in blast crisis. The original cell line contained both near haploid and hyperdiploid clones. Subsequent subcloning yielded a pure near-haploid cell line.Genome analysis has revealed that besides the disomic chromosome 8 also a 30 megabase fragment of chromosome 15 is present in two copies. Like other CML cells lines (e.g., K562) KBM-7 cells are positive for the Philadelphia chromosome harboring the BCR-ABL oncogenic fusion. KBM-7 cells have been reprogrammed to yield the HAP1 cell line which is also haploid for chromosome 8.]
chronic myelogenous leukemia cell line	EFO_0005294
ELF-1	EFO_0005901	[Human embryonic stem cell line ELF-1 was derived from a human embryo in the Ellison Stem Cell Core at the University of Washington, Seattle, WA.]