Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
drug-induced lupus erythematosus	MONDO_0016474	[An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs.]
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15	MONDO_0016475
Beckwith-Wiedemann syndrome due to CDKN1C mutation	MONDO_0016476
Beckwith-Wiedemann syndrome due to 11p15 microdeletion	MONDO_0016477
Ehlers-Danlos/osteogenesis imperfecta syndrome	MONDO_0016470	[Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.]
osteogenesis imperfecta	MONDO_0019019	[Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.]
pachyonychia congenita	MONDO_0016471	[Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.]
focal palmoplantar keratoderma	MONDO_0017672
familial rhabdoid tumor	MONDO_0016473	[A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.]
Lactococcus garvieae	NCBITaxon_1363
tertiary syphilis	MONDO_0004497	[A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis).]
CTLL-2	EFO_0002821	[Mouse, C57BL/6, T-lymphocyte cell line.]
CM7-1	EFO_0002820	[A cell line derived from murine embryonic stem cells.]
obsolete_H69	EFO_0002823	[Human Caucasian lung small cell carcinoma cell line.]
D10.G4.1	EFO_0002822
PC-9	EFO_0002847
PC-7	EFO_0002846
R11	EFO_0002849
Multiple congenital anomalies-hypotonia-seizures syndrome type 2	Orphanet_300496
Congenital disorder of glycosylation with developmental anomaly	Orphanet_371235