Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
mercury dichloride	CHEBI_31823
obsolete_intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	Orphanet_397973
obsolete_MAN1B1-CDG	Orphanet_397941
qualitative or quantitative defects of titin	MONDO_0016191
AP-4 deficiency syndrome	MONDO_0100176	[A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.]
obsolete_Autosomal recessive spastic paraplegia type 58	Orphanet_397946
obsolete_microcephaly-thin corpus callosum-intellectual disability syndrome	Orphanet_397951
GTP cyclohydrolase I deficiency	MONDO_0100184	[A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease.]
tetrahydrobiopterin metabolic process disease	MONDO_0045014	[A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.]
GTP cyclohydrolase I deficiency with hyperphenylalaninemia	MONDO_0100186
apolipoprotein A-I deficiency	MONDO_0100189	[A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).]
obsolete_TCR-alpha-beta-positive T-cell deficiency	Orphanet_397959
obsolete_MRCS syndrome	Orphanet_263347
enveloping layer of ectoderm	UBERON_0007383	[Outermost layer of cells surrounding the embryo.]
obsolete_sickle cell disease associated with an other hemoglobin anomaly	Orphanet_251355
Sickle cell - beta-thalassemia disease	Orphanet_251359
structural epilepsy	MONDO_0100035	[Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.]
variable age onset epilepsy	MONDO_0100036	[An epilepsy syndrome that has an onset during variable ages and stages of life.]
Osteopenia	HP_0000938	[Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.]
Reduced bone mineral density	HP_0004349	[A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.]