Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_autosomal dominant cutis laxa	Orphanet_90348
Xeroderma pigmentosum variant	Orphanet_90342	[Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.]
Polymalformative genetic syndrome with increased risk of developing cancer	Orphanet_183422	[Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.]
vanillate	CHEBI_16632	[A methoxybenzoate that is the conjugate base of vanillic acid.]
Central scotoma	HP_0000603	[An area of depressed vision located at the point of fixation and that interferes with central vision.]
Visual field defect	HP_0001123
Festuca brevipila	NCBITaxon_98746
Penicillium viridicatum	NCBITaxon_60134
Xanthomonas oryzae pv. oryzicola BLS256	NCBITaxon_383407
3q29 microduplication	Orphanet_251038	[3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.]
parotid neoplasm	EFO_0003873	[A neoplasm (disease) that involves the parotid gland.]
Festuca rubra subsp. littoralis	NCBITaxon_98755
Festuca rubra subsp. fallax	NCBITaxon_98754
liver solitary fibrous tumor	MONDO_0004705	[A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort.]
Vigna unguiculata subsp. unguiculata	NCBITaxon_3920
Pyrobaculum aerophilum	NCBITaxon_13773
obsolete_6p22 microdeletion syndrome	Orphanet_251046	[6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.]
uterus carcinoma in situ	MONDO_0004710	[A carcinoma in situ involving a uterus.]
uterine carcinoma	EFO_0002919	[A carcinoma involving a uterus.]
obsolete_ring chromosome 5	Orphanet_251043