Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
atactic disorder	MONDO_0100308	[A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.]
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	EFO_0010658	[An autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development, impaired motor development, axial and peripheral hypotonia, poor speech and significant behavioral abnormalities, including autism spectrum disorder, hyperactivity, mood disorders, aggression, hand and face stereotypies, sleep disturbances, anxiety, self-injurious behavior, and bruxism.]
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	EFO_0010659	[An autosomal dominant disorder characterized by intellectual disability, developmental delay, poor language acquisition, behavioural abnormalities, growth failure, feeding difficulties, microcephaly, facial dysmorphism, and mild skeletal anomalies of the hands and feet.]
mitochondrial complex V deficiency, nuclear type 6	EFO_0010656	[An autosomal recessive mitochondrial disorder characterized by gross motor developmental delay manifesting in the first years of life, and subsequent episodic developmental regression. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome.]
neurodevelopmental disorder with absent language and variable seizures	EFO_0010657	[A disorder characterized by neurodevelopmental abnormalities, including moderate to profound intellectual disability, with autistic features, seizures, severe impairments in speech, and gross motor delay.]
N-acetyl-L-methionine	CHEBI_21557	[An L-methionine derivative that is L-methionine in which one of the amine hydrogens is substituted by an acetyl group.]
short stature and microcephaly with genital anomalies	EFO_0010665	[An autosomal recessive disease characterized by growth failure resulting in severe short stature, severe microcephaly, and delayed and dissociated bone age. Additional features include global psychomotor developmental delay, pubertal delay and genital anomalies.]
aspirin use measurement	EFO_0007013	[quantification of some aspect of aspirin use]
NSAID use measurement	EFO_0007012	[quantification of some aspect of NSAID use]
occlusion precerebral artery	EFO_0009677	[Occlusion of a precerebral artery.]
airway submucosal gland	EFO_0010666	[Gland in the submucosal walls of the airways.]
bronchus	UBERON_0002185	[The upper conducting airways of the lung; these airways arise from the terminus of the trachea.]
SSRI use measurement	EFO_0007011	[quantification of some aspect of SSRI use]
paralytic strabismus	EFO_0009678	[An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. [database_cross_reference: ORCID:0000-0003-0986-4123][database_cross_reference: ORCID:0000-0003-0986-4123]]
neurooculocardiogenitourinary syndrome	EFO_0010663	[An autosomal dominant multisystem disorder characterized by significant neurological impairment with structural brain defects and seizures, poor feeding, poor postnatal growth, ocular anomalies, dysmorphic facial features, and variable skeletal, cardiac and genitourinary defects. Death in infancy may occur.]
pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5	EFO_0010664	[A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT5 inheritance is autosomal dominant.]
pulmonary fibrosis and/or bone marrow failure, telomere-related	MONDO_0000148
drug	CHEBI_23888	[Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances.]
paraplegia	EFO_0009679	[Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. [database_cross_reference: NCIt:P378], Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.]
cellular protein metabolic process	GO_0044267	[ The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. ]