Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Disorder of lysosomal amino acid transport	Orphanet_79207
Abnormal cerebral white matter morphology	HP_0002500	[An abnormality of the cerebral white matter.]
Lipid storage disease	Orphanet_79204
obsolete_glycogen storage disease	Orphanet_79201
obsolete_isolated delta-storage pool disease	Orphanet_248340
Limb hypertonia	HP_0002509
Hypertonia	HP_0001276	[A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.]
Abnormal skeletal muscle morphology	HP_0011805	[A structural abnormality of a skeletal muscle.]
Abnormality of limbs	HP_0040064
Brainstem dysplasia	HP_0002508	[A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.]
Clostridium beijerinckii NCIMB 8052	NCBITaxon_290402
Salmonella enterica subsp. enterica serovar Newport	NCBITaxon_108619
obsolete_alpha-N-acetylgalactosaminidase deficiency type 1	Orphanet_79279
obsolete_acute intermittent porphyria	Orphanet_79276
malate measurement	EFO_0010508	[Quantification of malate levels in a sample.]
maleate measurement	EFO_0010509	[Quantification of maleate levels in a sample.]
obsolete_erythropoietic protoporphyria	Orphanet_79278
kynurenic acid measurement	EFO_0010506	[Quantification of kynurenic acid levels in a sample.]
Congenital erythropoietic porphyria	Orphanet_79277
Rare constitutional hemolytic anemia due to an enzyme disorder	Orphanet_98369