Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
holoprosencephaly	MONDO_0016296	[Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.]
hydrocephalus-blue sclerae-nephropathy syndrome	MONDO_0016350	[Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.]
scleral disorder	MONDO_0001269	[A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.]
idiopathic inherited hypercalciuria	MONDO_0016352
female breast carcinoma	MONDO_0004379	[A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females.]
5-hydroxymethyl-2-furoic acid	CHEBI_89118	[A member of the class of furoic acids that is 2-furoic acid substituted at position 5 by a hydroxymethyl group.]
obsolete_glioma	EFO_0000520	[A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.]
growth condition	EFO_0000523	[A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies.]
obsolete_inner cell mass	EFO_0000547
insulinoma	EFO_0000549	[An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome.]
pancreatic neuroendocrine tumor	EFO_1000045	[A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional, Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma).]
insulin secreting cell	CL_0000168
nucleoside triphosphate metabolic process	GO_0009141	[ The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. ]
Rothmund-Thomson syndrome type 1	MONDO_0016368	[Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.]
Rothmund-Thomson syndrome	MONDO_0010002	[Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.]
Rothmund-Thomson syndrome type 2	MONDO_0016369	[Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.]
Joubert syndrome with ocular defect	MONDO_0016364	[Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.]
familial primary hyperparathyroidism	MONDO_0016365	[An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.]
genetic hyperparathyroidism	MONDO_0016166	[Genetic hyperparathyroidism.]
primary hyperparathyroidism	EFO_0008519	[Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones., Primary hyperparathyroidism is a common disorder in which parathyroid hormone is excessively secreted from one or more of the four parathyroid glands.]