Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Waardenburg syndrome type 3	MONDO_0007862	[Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.]
BK polyomavirus	NCBITaxon_10629
focal palmoplantar and gingival keratoderma	MONDO_0007860	[Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.]
intellectual disability, autosomal dominant 58	MONDO_0020847
aluminium trichloride	CHEBI_30114	[An aluminium coordination entity that has formula AlCl3.]
Hirsutism	HP_0001007	[Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).]
intellectual disability, autosomal recessive 64	MONDO_0020846
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	MONDO_0020845
athyreosis	MONDO_0019855	[Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.]
acquired primary ovarian failure	MONDO_0019851	[An instance of primary ovarian failure that is acquired during the lifetime of the individual.]
thyroid ectopia	MONDO_0019854	[Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.]
[Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement	EFO_0008010	[quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample]
afamin measurement	EFO_0008015	[quantification of the amount of afamin in a sample]
Agouti-related protein measurement	EFO_0008016	[quantification of the amount of Agouti-related protein in a sample]
alcohol dehydrogenase [NADP+] measurement	EFO_0008017	[quantification of the amount of alcohol dehydrogenase [NADP+] in a sample]
alpha-1-antichymotrypsin complex measurement	EFO_0008018	[quantification of the amount of alpha-1-antichymotrypsin complex in a sample]
Ixodes scapularis	NCBITaxon_6945
a disintegrin and metalloproteinase with thrombospondin motifs 13	EFO_0008011	[quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 13 in a sample]
congenital laryngomalacia	MONDO_0007878	[Increased collapsibility of the larynx.]
Abelson tyrosine-protein kinase 2 measurement	EFO_0008012	[quantification of the amount of Abelson tyrosine-protein kinase 2 in a sample]