Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
casein kinase II 2-alpha:2-beta heterotetramer measurement	EFO_0020236	[The determination of the amount of casein kinase II 2-alpha:2-beta heterotetramer in a sample]
Microcephaly	HP_0000252	[Head circumference below 2 standard deviations below the mean for age and gender.]
carbonic anhydrase 4 measurement	EFO_0020230	[The determination of the amount of carbonic anhydrase 4 in a sample]
carbonic anhydrase 7 measurement	EFO_0020231	[The determination of the amount of carbonic anhydrase 7 in a sample]
Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair	Orphanet_210133
carbonic anhydrase 9 measurement	EFO_0020232	[The determination of the amount of carbonic anhydrase 9 in a sample]
Acromesomelic dysplasia, Maroteaux type	Orphanet_40
obsolete_dyschromatosis symmetrica hereditaria	Orphanet_41
obsolete_medium chain acyl-CoA dehydrogenase deficiency	Orphanet_42
epilepsy with generalized tonic-clonic seizures	EFO_0007262	[An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type., A generalized tonic-clonic seizure.]
adolescent/adult-onset epilepsy syndrome	MONDO_0100030	[An epilepsy syndrome that has an onset during the adolescent or adult stage of life.]
adolescence-adult electroclinical syndrome	MONDO_0000415	[An electroclinical syndrome with onset in adolescence and adulthood.]
X-linked adrenoleukodystrophy	Orphanet_43	[X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.]
Rare disorder with hypergonadotropic hypogonadism	Orphanet_181441
Metabolic disease with dementia	Orphanet_98543
Genetic chronic primary adrenal insufficiency	Orphanet_101960
epiglottitis	EFO_0007261	[An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor., Inflammation of the epiglottis.]
obsolete_Neonatal adrenoleukodystrophy	Orphanet_44	[Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).]
epidural abscess	EFO_0007260	[Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)]
obsolete_adenosine monophosphate deaminase deficiency	Orphanet_45