Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Orphanet_307804
obsolete_familial median cleft of the upper and lower lips	Orphanet_401942
Ralstonia eutropha H16	NCBITaxon_381666
obsolete_Moyamoya disease with early-onset achalasia	Orphanet_401945
FEV change measurement	EFO_0005921	[quantification of the rate of change in FEV of an individual over the course of time, used as an indicator of improvement or decay of pulmonary function]
binge eating	EFO_0005924	[Recurrent episodes of over-eating., binge eating with or without purging]
AVL induced bursal lymphoma	EFO_0005923	[Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds.]
Gallus gallus	NCBITaxon_9031
B-cell non-Hodgkin lymphoma cell line	EFO_0005906	[non-Hodgkin lymphoma derived cell lines]
OCI-LY1	EFO_0005907	[Established from the bone marrow of a 44-year-old man with B-cell Non-Hodgkin lymphoma (B-NHL; diffuse large cell), stage 4B at relapse in 1983.]
H7-hESC	EFO_0005904	[Undifferentiated embryonic stem cells]
obsolete_Oci-Ly-7	EFO_0005905
obsolete_spina bifida cystica	Orphanet_268744
obsolete_mosaic trisomy 9	Orphanet_99776
Blepharophimosis-intellectual disability syndrome, Verloes type	Orphanet_293725
obsolete_Oci-Ly-3	EFO_0005908	[Oci-Ly-3- Immortalized diffuse large B cell lymphoma cell line developed at the Ontario Cancer Institute.]
obsolete_total spina bifida cystica	Orphanet_268748
HGADFN167	EFO_0005909	[Dermal fibroblasts from an 8 year old male with Hutchinson-Gilford progeria syndrome (cell line HGPS, HGADFN167, progeria research foundation).]
Hutchinson-Gilford progeria syndrome	MONDO_0008310	[Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).]
dermis	UBERON_0002067	[The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP].]