Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Citrus limon	NCBITaxon_2708
Paxillus involutus	NCBITaxon_71150
obsolete_Premature chromosome condensation with microcephaly and intellectual disability	Orphanet_52183
GM15268	CLO_0027328	[DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION]
obsolete_10q22.3q23.3 microduplication syndrome	Orphanet_276422
isolation of adherent cells	OBI_0000540	[a material separation process in which cells that stick to the container in which they are grown as a cell culture are separated from those in the liquid component of the culture. The output of this process are adherent cells.]
obsolete_hereditary North American Indian childhood cirrhosis	Orphanet_168583
Fusarium incarnatum	NCBITaxon_298378
Hyperandrogenism due to cortisone reductase deficiency	Orphanet_168588
congenital pulmonary venous return anomaly	MONDO_0017705	[Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous.]
glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	MONDO_0017700
glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form	MONDO_0017701
Early-onset spastic ataxia-neuropathy syndrome	Orphanet_313772
Native American myopathy	Orphanet_168572	[Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.]
obsolete_hereditary cryohydrocytosis with reduced stomatin	Orphanet_168577
pancreatic colipase deficiency	MONDO_0017711
pancreatic triacylglycerol lipase deficiency	MONDO_0013700	[An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.]
combined pancreatic lipase-colipase deficiency	MONDO_0017712	[A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.]
disorder of lipid absorption and transport	MONDO_0017709
Tay-Sachs disease, b variant, juvenile form	MONDO_0017725