Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Drug-induced agranulocytosis	HP_0012235	[A type of agranulocytosis related to ingestion of a specific medication.]
obsolete_factor VIII deficiency	EFO_0007267	[An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.]
obsolete_distal monosomy 7q36	Orphanet_1636
Stenocarpella maydis	NCBITaxon_238245
Hemangiopericytic Neoplasm	EFO_1000289	[A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern.]
Growth Hormone-Producing Pituitary Gland Adenoma	EFO_1000287	[An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.]
growth hormone-producing pituitary gland neoplasm	MONDO_0019927	[An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone.]
carbohydrate sulfotransferase 6 measurement	EFO_0020226	[The determination of the amount of carbohydrate sulfotransferase 6 in a sample]
Head and Neck Paraganglioma	EFO_1000288	[A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas.]
carbonic anhydrase 1 measurement	EFO_0020227	[The determination of the amount of carbonic anhydrase 1 in a sample]
Granular Cell Tumor of the Neurohypophysis	EFO_1000285	[A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)]
carbonic anhydrase 2 measurement	EFO_0020228	[The determination of the amount of carbonic anhydrase 2 in a sample]
Granulocytic Sarcoma	EFO_1000286	[A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)]
myeloid sarcoma	EFO_1001052	[A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)]
carbonic anhydrase 3 measurement	EFO_0020229	[The determination of the amount of carbonic anhydrase 3 in a sample]
obsolete_glycogen storage disease due to aldolase A deficiency	Orphanet_57
cAMP-dependent protein kinase catalytic subunit alpha measurement	EFO_0020222	[The determination of the amount of cAMP-dependent protein kinase catalytic subunit alpha in a sample]
obsolete_Alexander disease	Orphanet_58	[Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.]
Dolichocephaly	HP_0000268	[An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.]
cAMP-regulated phosphoprotein 19 measurement	EFO_0020223	[The determination of the amount of cAMP-regulated phosphoprotein 19 in a sample]