Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
familial hyperlipidemia	MONDO_0001336	[An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.]
heel bone mineral density	EFO_0009270	[Quantification of the mineral density of the heel bone]
bone density	EFO_0003923	[The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.]
calcaneus	UBERON_0001450	[The postaxial bone of the proximal tarsals series[Phenoscape].]
bone element	UBERON_0001474	[Skeletal element that is composed of bone tissue.]
Gray matter heterotopia	HP_0002282	[Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.]
Abnormality of neuronal migration	HP_0002269	[An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.]
Epstein Barr virus nuclear antigen-1 seropositivity	EFO_0009271	[The result of a measurement of circulating Epstein Barr virus nuclear antigen-1 antibodies used in the diagnosis of latent Epstein-Barr virus infection]
amenorrhea	EFO_0010269	[The absence of menses in a female individual who has achieved reproductive age.]
autosomal dominant intermediate Charcot-Marie-Tooth disease type G	EFO_0010267	[An autosomal dominant, intermediate form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Dominant intermediate forms are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. CMTDIG is phenotypically variable. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment.]
hereditary motor neuron disease	MONDO_0024257	[An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.]
Charcot-Marie-Tooth disease	MONDO_0015626	[An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.]
motor neuron	CL_0000100	[An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes or inhibits movement.]
brain abnormalities, neurodegeneration, and dysosteosclerosis	EFO_0010268	[An autosomal recessive disease with variable manifestations. Main features are brain malformations with calcifying leukoencephalopathy, progressive neurodegeneration, and bone sclerotic features. The age at onset ranges from infancy to early adulthood. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.]
renal agenesis	MONDO_0018470	[Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s).]
Potter sequence	MONDO_0001558	[A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.]
ventricular ectopy	EFO_0009276	[A type of cardiac arrhythmia with premature ventricular contractions or beats caused by signals originating from ectopic sites.]
Charcot-Marie-Tooth disease type 1G	EFO_0010266	[An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade.]
Charcot-Marie-Tooth disease type 1	MONDO_0019011	[Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.]
supraventricular ectopy	EFO_0009277	[A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.]