Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hyperopia	MONDO_0004891	[A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)]
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	MONDO_0014209	[Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.]
complex hereditary spastic paraplegia	MONDO_0015150	[A hereditary spastic paraplegia that is part of a larger syndrome.]
Genetic gynecological tumor	Orphanet_183734
partial deletion of the short arm of chromosome 7	MONDO_0016889	[Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.]
idiopathic CD4 lymphocytopenia	MONDO_0014226	[Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.]
hemochromatosis type 5	MONDO_0014225	[Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.]
developmental delay with autism spectrum disorder and gait instability	MONDO_0014224	[Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.]
partial deletion of the short arm of chromosome 3	MONDO_0016885
partial deletion of the short arm of chromosome 5	MONDO_0016887
hypopigmentation-punctate palmoplantar keratoderma syndrome	MONDO_0014227
Heart murmur	HP_0030148	[An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.]
partial deletion of the short arm of chromosome 1	MONDO_0016883	[Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.]
triosephosphate isomerase deficiency	MONDO_0014221	[Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.]
disorder of glycolysis	MONDO_0017688
anemia due to erythrocyte enzyme disorder	MONDO_0020585	[Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.]
partial deletion of chromosome 18	MONDO_0016880
Prolonged QTc interval	HP_0005184	[A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.]
Prolonged QT interval	HP_0001657	[Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).]
thrombocytosis disease	MONDO_0002249	[A disease characterized by higher than normal platelet counts in the peripheral blood.]