Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
fatty liver disease	MONDO_0004790	[A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis.]
oculocutaneous albinism type 5	MONDO_0014127	[Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.]
Lacrimation abnormality	HP_0000632	[Abnormality of tear production.]
obsolete_hereditary mixed polyposis syndrome	Orphanet_157794
obsolete autosomal recessive limb-girdle muscular dystrophy type 2R	MONDO_0014129
pyruvate metabolism disorder	MONDO_0016789	[An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process.]
inborn disorder of energy metabolism	MONDO_0019243	[An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.]
TCF12-related craniosynostosis	MONDO_0014128	[Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.]
paternal 14q32.2 hypomethylation syndrome	MONDO_0016782
motor developmental delay due to 14q32.2 paternally expressed gene defect	MONDO_0014541	[A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.]
maternal 14q32.2 hypermethylation syndrome	MONDO_0016783
Abnormal urine cytology	HP_0012614	[An anomalous finding in the examination of the urine for cells.]
gestational trophoblastic disease	MONDO_0016784
complete hydatidiform mole	MONDO_0016785	[Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.]
obsolete_hyperplastic polyposis syndrome	Orphanet_157798
autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	MONDO_0014121
paternal 14q32.2 microdeletion syndrome	MONDO_0016780
maternal 14q32.2 microdeletion syndrome	MONDO_0016781
response to antibiotic	GO_0046677	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms.]
difference of sexual differentiation	MONDO_0002145	[A congenital disorder characterized by abnormalities in the development of the sexual characteristics.]