Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
eye adnexa disease	EFO_0009546	[A disease involving the ocular adnexa.]
eye disease	EFO_0003966	[An eye and adnexa disease that is located in the eye., A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma., A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [NCIt:C26767]]
salicylurate measurement	EFO_0010532	[Quantification of salicylurate levels in a sample.]
GM17103	CLO_0014898	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24]
Antley-Bixler syndrome	MONDO_0008803	[Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.]
syndromic craniosynostosis	MONDO_0015338	[A craniosynostosis that is part of a larger syndrome.]
craniosynostosis syndrome, autosomal recessive	MONDO_0011679	[Autosomal recessive form of craniosynostosis.]
dental pulp disease	EFO_0009540	[A disease involving the dental pulp.]
ribulose-5-phosphate measurement	EFO_0010530	[Quantification of ribulose-5-phosphate levels in a sample.]
disease of peritoneum	EFO_0009541	[A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.]
disorder of appendix	EFO_0009542	[A disease or disorder that involves the vermiform appendix.]
large intestine disorder	MONDO_0024634	[A disease that involves the large intestine.]
obsolete_2p15p16.1 microdeletion syndrome	Orphanet_261349	[2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.]
microphthalmia with limb anomalies	MONDO_0008800	[Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.]
disturbances of sensation of smell and taste	EFO_0009543	[taste alteration]
Abnormality of taste sensation	HP_0000223
Abnormality of the sense of smell	HP_0004408	[An anomaly in the ability to perceive and distinguish scents (odors).]
obsolete_familial isolated hypoparathyroidism due to impaired PTH secretion	Orphanet_189466
fallopian tube disease	EFO_0009548	[A disease involving the fallopian tube.]
hand dermatosis	EFO_1000706	[Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual., skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual.]