Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
combined oxidative phosphorylation deficiency 43	MONDO_0030017
anauxetic dysplasia 3	MONDO_0030019
anauxetic dysplasia	MONDO_0011773	[A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.]
SIN3A-related intellectual disability syndrome	MONDO_0044699
Stiff neck	HP_0025258	[A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.]
Joint stiffness	HP_0001387	[Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.]
intellectual developmental disorder with autistic features and language delay, with or without seizures	MONDO_0030051
hemangiopericytoma	MONDO_0005094	[An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.]
meningoencephalocele	MONDO_0017079	[A congenital abnormality in which the meninges protrude through a defect in the cranium.]
neurodevelopmental, jaw, eye, and digital syndrome	MONDO_0030057
developmental and epileptic encephalopathy, 87	MONDO_0030059
hearing loss, autosomal dominant 77	MONDO_0030058
DNA methylation	GO_0006306	[The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine]
collective leaf structure	PO_0025022
upper thoracic spina bifida cystica	MONDO_0017075
posterior meningocele	MONDO_0017076	[Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.]
sorbitol dehydrogenase deficiency with peripheral neuropathy	MONDO_0030055
myelocystocele	MONDO_0017077
Tetany	HP_0001281	[A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.]
developmental and epileptic encephalopathy, 86	MONDO_0030054