Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
divanadium pentaoxide	CHEBI_30045
pituitary stalk interruption syndrome	MONDO_0019828	[Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.]
congenital anomaly of the great arteries	MONDO_0020292
pituitary deficiency	MONDO_0015127
aneurysm or dilatation of ascending aorta	MONDO_0019821
ascending aorta anomaly	MONDO_0020293
keratitis fugax hereditaria	MONDO_0007849
autosomal dominant keratitis	MONDO_0007848	[Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.]
1,2-di-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine	CHEBI_42027	[A 1,2-di-octadecadienoyl-sn-glycero-3-phosphocholine in which the double bonds in each fatty acyl group are at positions 9 and 12 and have Z configuration.]
Kaposi sarcoma, susceptibility to	MONDO_0007845
KBG syndrome	MONDO_0007846	[KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.]
hypogonadotropic hypogonadism 2 with or without anosmia	MONDO_0007844	[Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.]
coxopodopatellar syndrome	MONDO_0007841	[Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.]
Ehlers-Danlos syndrome type 11	MONDO_0007842	[Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.]
Porphyromonas gingivalis W83	NCBITaxon_242619
acquired pituitary hormone deficiency	MONDO_0019832	[An instance of hypopituitarism that is acquired during the lifetime of the individual.]
distal arthrogryposis type 2B1	MONDO_0020820
Sheldon-hall syndrome	MONDO_0011128	[Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.]
17alpha-estradiol	CHEBI_17160
obsolete_hereditary site-specific ovarian cancer syndrome	Orphanet_213524