Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
eye inflammation	EFO_0005752	[an inflammation in the eye(s)]
mediastinum sarcoma	MONDO_0002852	[A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma.]
mediastinal soft tissue cancer	MONDO_0037743	[A malignant neoplasm that arises from the soft tissues of the mediastinum.]
skin wound	EFO_0005756	[an injury to the skin caused by a cut, blow, or other impact.]
ribulose 5-phosphate	CHEBI_37455	[A ribulose phosphate in which the phosphate group is attached at position 5.]
ocular vascular disease	EFO_0005753	[a disease that occurs in the vasculature of the eye, A disorder that is caused by pathologic changes in the ocular vasculature.]
vasculature of eye	UBERON_0002203	[Vasculature that is part of the eye region.]
parathyroid gland	UBERON_0001132	[The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism.]
cycloplegia	EFO_0005758	[Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.]
eye accommodation disease	MONDO_0000926	[Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies.]
intellectual disability, autosomal dominant 41	MONDO_0014842	[Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.]
obsolete_X-linked Ehlers-Danlos syndrome	Orphanet_75497
Ehlers-Danlos syndrome, progeroid type	Orphanet_75496	[Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.]
Primary bone dysplasia with decreased bone density	Orphanet_93446
autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency	MONDO_0014846
Zimmermann-Laband syndrome	MONDO_0000200	[Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.]
Facial wrinkling	HP_0009762	[Excessive wrinkling of the skin of the face.]
Sedum alfredii	NCBITaxon_439688
NCI-H2882	EFO_0003121
Cleft mandible	HP_0010752	[Midline deficiency of the mandible and some or all overlying tissues.]