Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
lens of camera-type eye	UBERON_0000965	[Transparent part of camera-type eye that helps to refract light to be focused on the retina.]
cornea	UBERON_0000964	[The transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure.]
growth hormone insensitivity syndrome with immune dysregulation	MONDO_0100210
growth hormone insensitivity syndrome	MONDO_0015892	[Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.]
growth hormone insensitivity with immune dysregulation 1, autosomal recessive	MONDO_0100211
GM17792	CLO_0016672	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
IFAP syndrome	MONDO_0100212
IFAP syndrome with or without BRESHECK syndrome	MONDO_0100213	[An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.]
X-linked ichthyosis syndrome	MONDO_0017269	[X-linked form of inherited ichthyosis syndromic form.]
Rajab interstitial lung disease with brain calcifications	MONDO_0100214
Rajab interstitial lung disease with brain calcifications 1	MONDO_0100215
GM17794	CLO_0016676	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17791	CLO_0016675	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
arthrogryposis multiplex congenita 5	MONDO_0100218
growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	MONDO_0100219
ibuprofen	CHEBI_5855	[A monocarboxylic acid that is propionic acid in which one of the hydrogens at position 2 is substituted by a 4-(2-methylpropyl)phenyl group.]
trochanter	UBERON_0000980	[A bony prominence near the extremity of the femur that normally serves as attachment points for hip and thigh muscles[MP,modified].]
femur	UBERON_0000981	[Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified].]
protein secretion	GO_0009306	[The controlled release of proteins from a cell.]
protein transport	GO_0015031	[ The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. ]