Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
4-hydroxy-2-nonenal	CHEBI_32585	[A hydroxyaldehyde that has formula C9H16O2.]
trigeminal ganglion	UBERON_0001675	[The cranial ganglion that is associated with and extends fibers into the trigeminal nerve.]
central retinal vein	UBERON_0001673	[The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted].]
acne inversa, familial, 1	MONDO_0007728	[Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.]
hip dysplasia, Beukes type	MONDO_0007726	[Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.]
autosomal dominant familial periodic fever	MONDO_0007727	[Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.]
hirsutism-skeletal dysplasia-intellectual disability syndrome	MONDO_0007724
obsolete_inborn errors of metabolism	Orphanet_68367
obsolete_hemoglobinopathy	Orphanet_68364
time unit	UO_0000003	[A time unit is a base unit which is a standard measure of the dimension in which events occur in sequence., A base unit which is a standard measure of the dimension in which events occur in sequence., A unit which is a standard measure of the dimension in which events occur in sequence.]
base unit	UO_0000045	[A unit which is one of a particular measure to which all measures of that type can be related., A base unit is a unit which is used to measure a paticular type which is independent from all other base units and from which all measures of that type can be derived, for example, a length base unit of the meter. This is akin to the SI base unit system.]
electric current unit	UO_0000004	[A unit which is a standard measure of the flow of electric charge., A base unit which is a standard measure of the flow of electric charge., An electric current unit is a base unit which is a standard measure of the flow of electric charge.]
length unit	UO_0000001	[A base unit which is a standard measure of the distance between two points., A unit which is a standard measure of the distance between two points., A length unit is a base unit which is a standard measure of the distance between two points.]
mass unit	UO_0000002	[A base unit which is a standard measure of the amount of matter/energy of a physical object., A mass unit is a base unit which is a standard measure of the amount of matter/energy of a physical object., A unit which is a standard measure of the amount of matter/energy of a physical object.]
neural tube defects, susceptibility to	MONDO_0020705
inherited rippling muscle disease	MONDO_0020704	[Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.]
rippling muscle disease	MONDO_0011634	[A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch]
N-benzyladenine	CHEBI_29022
autosomal dominant epidermolytic ichthyosis	MONDO_0020702
epidermolytic ichthyosis	MONDO_0007239	[A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.]