Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_isolated congenital alacrima	Orphanet_91416
obsolete_congenital Horner syndrome	Orphanet_91413
Congenital ptosis	Orphanet_91411	[Congenital ptosis is characterized by superior eyelid drop present at birth.]
Marcus-Gunn syndrome	Orphanet_91412
Bronchiolitis	HP_0011950	[Inflammation of the bronchioles.]
Abnormal mitochondria in muscle tissue	HP_0008316	[An abnormality of the mitochondria in muscle tissue.]
Feeding difficulties	HP_0011968	[Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.]
Turnip mosaic virus	NCBITaxon_12230
Gyps fulvus	NCBITaxon_36247
Pepper mild mottle virus	NCBITaxon_12239
Burkholderia ambifaria	NCBITaxon_152480
Myelofibrosis	HP_0011974	[Replacement of bone marrow by fibrous tissue.]
N,N-dimethylglycine	CHEBI_17724	[An N-methylglycine that is glycine carrying two N-methyl substituents.]
Reduced beta/alpha synthesis ratio	HP_0011906	[A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.]
Abnormal hemoglobin	HP_0011902	[Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.]
Hypofibrinogenemia	HP_0011900	[Decreased concentration of fibrinogen in the blood.]
Persistence of hemoglobin F	HP_0011904	[Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.]
Plum pox virus	NCBITaxon_12211
Clinodactyly of the 4th toe	HP_0011918	[Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).]
Lumbar hypertrichosis	HP_0011913	[Excessive, increased hair growth located in the lumbar region.]