Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
lymphoid neoplasm	EFO_0001642	[A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.]
obsolete_material type	EFO_0000577	[Controlled terms for the state of the BioMaterial. Each state (BioSource, different BioSamples, and LabeledExtract) have MaterialTypes. Examples are population of an organism, organism, organism part, cell]
Orofaciodigital syndrome type 11	Orphanet_141000	[Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.]
Onthophagus nigriventris	NCBITaxon_476074
angiosarcoma	EFO_0003968	[A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.]
keratinizing squamous cell carcinoma	EFO_0000559	[Squamous cell carcinomas with morphologically prominent production of keratin.]
papaverine	CHEBI_28241
dichloroacetate	CHEBI_28240
hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	MONDO_0016393	[This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.]
arhinia, choanal atresia, and microphthalmia	MONDO_0011323
(S)-alpha-methyl-4-carboxyphenylglycine	CHEBI_43876
sporadic infantile bilateral striatal necrosis	MONDO_0016394	[Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.]
infantile bilateral striatal necrosis	MONDO_0015518	[Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.]
gemfibrozil	CHEBI_5296
foveal hypoplasia-presenile cataract syndrome	MONDO_0016395
pontocerebellar hypoplasia type 1	MONDO_0016396	[Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.]
non-syndromic central nervous system malformation	MONDO_0015219	[A central nervous system malformation that is not part of a larger syndrome.]
Papaver somniferum	NCBITaxon_3469
genetic hypoparathyroidism	MONDO_0016165	[Genetic hypoparathyroidism.]
Eschscholzia californica	NCBITaxon_3467