Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
familial Mediterranean fever	MONDO_0018088	[Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.]
hereditary periodic fever syndrome	MONDO_0017953	[An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.]
primary immunodeficiency due to a genetic defect in innate immunity	MONDO_0015135
viral hemorrhagic fever	MONDO_0018087	[A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging.]
hemorrhagic fever	MONDO_0600002	[An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.]
double outlet right ventricle	MONDO_0018089	[Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.]
ventricular septal defect	MONDO_0002070	[The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired.]
transient tyrosinemia of the newborn	MONDO_0018083	[Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.]
disorder of tyrosine metabolism	MONDO_0017307
obsolete_radial hemimelia, bilateral	Orphanet_295071
ulerythema ophryogenesis	MONDO_0018086	[Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.]
umbilical cord ulceration-intestinal atresia syndrome	MONDO_0018085	[Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage.]
syndromic intestinal malformation	MONDO_0015212	[A intestinal malformation that is part of a larger syndrome.]
obsolete_ulnar hemimelia, unilateral	Orphanet_295075
obsolete_ulnar hemimelia, bilateral	Orphanet_295073
obsolete_tibial hemimelia, bilateral	Orphanet_295079
obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Orphanet_319569
obsolete_tibial hemimelia, unilateral	Orphanet_295077
obsolete_autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Orphanet_319581
obsolete_familial mesial temporal lobe epilepsy with febrile seizures	Orphanet_165805