Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
bacteremia, susceptibility	MONDO_0000108
hereditary predisposition to infections	MONDO_0015979
auriculocondylar syndrome	MONDO_0000107	[Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.]
ear malformation	MONDO_0007500
oculo-auriculo-vertebral spectrum	MONDO_0015397
methylmercury	CHEBI_49747	[A methylmercury compound that has formula CH3Hg.]
obsolete_bilateral polymicrogyria	Orphanet_268940
estrogen receptor modulator	CHEBI_50739	[A substance that possess antiestrogenic actions but can also produce estrogenic effects as well. It acts as complete or partial agonist or as antagonist. It can be either steroidal or nonsteroidal in structure.]
obsolete_brain vasculature	EFO_0003491
Mullegama-Klein-Martinez syndrome	MONDO_0026722
obsolete_cardinal system	EFO_0003490
obsolete_lateral line ganglion	EFO_0003493
bifid nose	MONDO_0000110	[Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.]
median facial cleft	MONDO_0015412
nose and cavum anomaly	MONDO_0015503
obsolete_head mesenchyme	EFO_0003492	[Mesoderm that will give rise, along with cranial neural crest cells, to connective tissue, bone and musculature in the head. (Source: BioGlossary, www.Biology-Text.com)]
obsolete_mandibular lateral line neuromast	EFO_0003495
obsolete_lens placode	EFO_0003494	[Ectodermal primordium of the lens of the eye.]
obsolete_neural keel	EFO_0003497	[An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section.]
anovulation	MONDO_0002775	[The absence of ovulation.]