Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
ribonucleotide biosynthetic process	GO_0009260	[ The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. ]
nucleotide biosynthetic process	GO_0009165	[ The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). ]
congenital insensitivity to pain with hyperhidrosis	MONDO_0016319
Infantile dystonia-parkinsonism	Orphanet_238455	[Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.]
rasopathy	EFO_1001502	[Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction., Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome]
neurofibromatosis	EFO_0008514	[Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs., A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.]
mucopolysaccharidosis type 2, severe form	MONDO_0016315	[Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.]
mucopolysaccharidosis type 2	MONDO_0010674	[A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.]
obsolete_SLC35A1-CDG	Orphanet_238459	[Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.]
mucopolysaccharidosis type 2, attenuated form	MONDO_0016316	[Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.]
isolated oxycephaly	MONDO_0018971	[Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.]
Niemann-Pick disease type C, adult neurologic onset	MONDO_0016310
obsolete_lysosomal glycogen storage disease	Orphanet_309337
Anal fistula	HP_0010447	[An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.]
patterned dystrophy of the retinal pigment epithelium	MONDO_0018973
retinal cancer	EFO_0005716	[A malignant neoplasm involving the retina.]
retinal cell neoplasm	MONDO_0024341	[A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.]
obsolete_disorder of lysosomal-related organelles	Orphanet_309340
prostate cancer cell line	BTO_0001033
J774.2 cell	BTO_0001030	[ Mouse, BALB/c, blood, not defined tumor cell line. Recloned from J774.1 original ascites and solid tumour. Produces IL-1. ]