Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_pretreatment	EFO_0000669
obsolete_autosomal recessive lymphoproliferative disease	Orphanet_238505
regressive spondylometaphyseal dysplasia	MONDO_0018663
Ehlers-Danlos syndrome, kyphoscoliotic type 1	MONDO_0016002	[A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.]
primary bone dysplasia with multiple joint dislocations	MONDO_0800086
kyphoscoliotic Ehlers-Danlos syndrome	MONDO_0034024	[A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly FKBP22), and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.]
primary Anaplasmataceae infectious disease	EFO_1001123	[Infections with bacteria of the family ANAPLASMATACEAE., Infections with bacteria of the family anaplasmataceae.]
Mast Cell Neoplasm	EFO_0009000	[A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)]
hemophilia	MONDO_0018660	[Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.]
autosomal recessive brachyolmia	MONDO_0018662	[Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.]
brachyolmia	MONDO_0015262	[Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.]
familial isolated hypoparathyroidism due to impaired PTH secretion	MONDO_0016000
hypoparathyroidism, familial isolated 1	MONDO_0007796
Zika virus infectious disease	MONDO_0018661	[Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.]
premature menopause	EFO_0009005	[The loss of normal function of the ovaries before age 40., Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive.]
primary ovarian insufficiency	EFO_0004266	[Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries., Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections.]
hyperandrogenism	EFO_0009006	[Excessive secretion of androgens from the adrenal glands or gonads. Clinical manifestations may include virilization. [ NICHD NCI ]]
ovarian dysfunction	EFO_0009003	[The inability of the ovaries to function. [ NCI ], The inability of the ovaries to function.]
Adrenal Hyperandrogenism	EFO_0009007	[Excessive secretion of the androgen hormones dehydroepiandrosterone (DHEA), DHEA sulfate, and androstenedione, from the adrenal gland. Clinical manifestations may include virilization. [ NICHD NCI ]]
Ovarian Hyperandrogenism	EFO_0009008	[Increased production of androgens by the ovaries. [ NCI ]]