Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
laryngotracheoesophageal cleft	MONDO_0016060	[A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.]
ancestry status	HANCESTRO_0304	[General characterisation of the ancestry of a population or individual]
Abnormal cortical gyration	HP_0002536	[An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.]
admixed ancestry	HANCESTRO_0306	[Ancestry which is an admixture of more than one defined ancestral population. The degree and type of admixture may vary within a population and the accuracy of classification requires well-defined reference samples]
obsolete_familial hypodysfibrinogenemia	Orphanet_248408
genetically isolated ancestry	HANCESTRO_0305	[Ancestry that is the result of cultural or geographic isolation. Generally characterised by increased genetic homogeneity and reduced genetic variation]
glomus tumor	MONDO_0018327	[A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities.]
pericytic neoplasm	MONDO_0002604	[A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.]
Soft Tissue Neoplasm	EFO_1000541	[A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.]
combined dystonia	MONDO_0020065	[A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).]
homozygous familial hypercholesterolemia	MONDO_0018328
familial hypercholesterolemia	EFO_0004911	[Familial hypercholesterolaemia is an autosomal inherited disorder characterized by markedly elevated LDL-cholesterol levels and an increased risk of premature atherosclerotic cardiovascular disease, Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM), An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.]
HSD10 disease, neonatal type	MONDO_0018323	[HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.]
HSD10 mitochondrial disease	MONDO_0010327	[HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.]
HSD10 disease, infantile type	MONDO_0018322	[HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.]
Rare thrombotic disorder due to a constitutional platelet anomaly	Orphanet_248401
Rare genetic coagulation disorder	Orphanet_183654
atypical juvenile parkinsonism	MONDO_0018321	[Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.]
parkinsonian disorder	MONDO_0021095	[A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.]
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	MONDO_0018320