Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Allan-Herndon-Dudley syndrome	Orphanet_59
Prominent occiput	HP_0000269	[Increased convexity of the occiput (posterior part of the skull).]
cAMP-specific 3',5'-cyclic phosphodiesterase 4D measurement	EFO_0020224	[The determination of the amount of cAMP-specific 3',5'-cyclic phosphodiesterase 4D in a sample]
carbohydrate sulfotransferase 2 measurement	EFO_0020225	[The determination of the amount of carbohydrate sulfotransferase 2 in a sample]
Oxycephaly	HP_0000263	[Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.]
Abnormality of the mastoid	HP_0000264	[An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.]
Mastoiditis	HP_0000265
Congenital alveolar capillary dysplasia	Orphanet_210122
Genetic interstitial lung disease	Orphanet_264992
calcium/calmodulin-dependent protein kinase type II subunit delta measurement	EFO_0020220	[The determination of the amount of calcium/calmodulin-dependent protein kinase type II subunit delta in a sample]
calreticulin measurement	EFO_0020221	[The determination of the amount of calreticulin in a sample]
obsolete_Aicardi syndrome	Orphanet_50
Wide anterior fontanel	HP_0000260	[Enlargement of the anterior fontanelle with respect to age-dependent norms.]
Abnormality of the anterior fontanelle	HP_0000236	[An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.]
Aicardi-Goutières syndrome	Orphanet_51
obsolete_Alagille syndrome	Orphanet_52
Albers-Schönberg osteopetrosis	Orphanet_53	[Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).]
obsolete_urocanic aciduria	Orphanet_210128
endocardial fibroelastosis	EFO_0007251	[An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers., Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.]
endocardium disorder	MONDO_0000470	[A disease involving the endocardium.]