Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Drop-seq sequencing protocol	EFO_0008444	[The standard protocol defined by Macosko et al for isolating and sequencing the nucleic acid material from single cell specimens]
obsolete_neurofaciodigitorenal syndrome	Orphanet_2673
obsolete_obesity due to melanocortin 4 receptor deficiency	Orphanet_71529
obsolete_apolipoprotein A-I deficiency	Orphanet_425
urban-Rogers-Meyer syndrome	MONDO_0009905	[This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.]
platelet-to-lymphocyte ratio	EFO_0008446	[The ratio of platelet count to lymphocyte count, quantified in a blood sample. Both neutrophil-to-lymphocyte ratio and platelet-to-lymphocyte ratio have been proposed as biomarkers for the diagnosis or prognostic prediction of disease.]
obsolete_Salt-and-pepper syndrome	Orphanet_370938
obsolete_Neu-Laxova syndrome	Orphanet_2671	[Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.]
obsolete_familial hyperthyroidism due to mutations in TSH receptor	Orphanet_424
Gitelman syndrome	MONDO_0009904	[Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.]
neutrophil-to-lymphocyte ratio	EFO_0008447	[The ratio of neutrophil count to lymphocyte count, quantified in a blood sample. Both neutrophil-to-lymphocyte ratio and platelet-to-lymphocyte ratio have been proposed as biomarkers for the diagnosis or prognostic prediction of disease.]
obsolete_Pierson syndrome	Orphanet_2670
postaxial acrofacial dysostosis	MONDO_0009903	[Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.]
tag based single cell RNA sequencing	EFO_0008440	[Single cell sequencing process using an approach where only a short fragment (tag) at a defined position in each RNA molecule is sequenced]
obsolete_idiopathic and/or familial pulmonary arterial hypertension	Orphanet_422
cutaneous porphyria	MONDO_0009902	[Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.]
full length single cell RNA sequencing	EFO_0008441	[Single cell sequencing process using an approach where the full length of each RNA molecule is sequenced]
Bartsocas-Papas syndrome	MONDO_0009901	[Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.]
popliteal pterygium syndrome	MONDO_0017435	[A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.]
Smart-seq2 protocol	EFO_0008442	[The standard protocol supplied by Illumina for single cell nucleic acid sequencing]