Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
myopathy, congenital, progressive, with scoliosis	EFO_0010565	[An autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe.]
chorea, benign familial	MONDO_0008979	[Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.]
chorea	EFO_0004152	[Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next., A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.]
high-risk pregnancy	EFO_0009573	[A fetal/maternal condition that is risky and portends complications for the mother and/or fetus, when compared to a normal pregnancy. [ NCI ]]
neurodevelopmental disorder with cerebellar hypoplasia and spasticity	EFO_0010562	[An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, profound intellectual disability, seizures, absent speech, spasticity, facial and limb dysmorphism, and subtle structural brain abnormalities including cerebellar hypoplasia.]
chordoma	MONDO_0008978	[Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.]
notochordal tumor	MONDO_0002597	[A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.]
neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	EFO_0010563	[An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, poor language, seizures, dysmorphic features, and thin corpus callosum.]
intoxication	EFO_0009574	[Disturbances in psychophysiological functions and responses as a result of administration or ingestion of a psychoactive substance. [ NCI ]]
poisoning	EFO_0008546	[A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent.]
mosquito-borne hemorragic fever	EFO_0009575	[A group of viral illnesses that are vectored by mosquitoes, and that are characterized by increased susceptibility to bleeding diatheses. [ NCI ]]
neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	EFO_0010560	[An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, ataxia, and muscular hypotonia.]
multiple gestation	EFO_0009576	[A pregnancy involving twins or higher-order multiple fetuses (e.g., triplets, quadruplets). [ NCI ]]
pregnancy	EFO_0002950	[The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH., The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth.]
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	EFO_0010561	[An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay with motor impairment, cognitive delays, absent or severely limited speech, dysmorphic features, hypotonia and cataracts.]
otospondylomegaepiphyseal dysplasia	MONDO_0008975	[An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.]
spondyloepiphyseal dysplasia	MONDO_0016761	[An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis.]
Greenberg dysplasia	MONDO_0008974	[A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.]
sterol biosynthesis disorder	MONDO_0019240	[An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process.]
chondrodysplasia punctata	MONDO_0019701	[A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.]