Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
malignant glioma	MONDO_0100342	[A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma.]
tumor grade 3, general grading system	MONDO_0024493	[A morphologic qualifier indicating that a cancerous lesion is poorly differentiated.]
coenzyme q10 deficiency, primary, 9	MONDO_0033615
obsolete_autosomal dominant diffuse mutilating palmoplantar keratoderma	Orphanet_307773
spastic paraplegia 83, autosomal recessive	MONDO_0033614
hereditary spastic paraplegia	MONDO_0019064	[Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.]
von Willebrand disease 1	MONDO_0008668	[Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).]
hereditary von Willebrand disease	MONDO_0019565	[Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).]
neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	MONDO_0033613
spastic quadriplegic cerebral palsy	MONDO_0016215	[A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.]
Pancreatic Vipoma	EFO_1000445	[A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis.]
von Hippel-Lindau disease	MONDO_0008667	[A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.]
Pancreatoblastoma	EFO_1000446	[A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis.]
volvulus of midgut	MONDO_0008666	[A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.]
Pancreatic Precancerous Condition	EFO_1000443	[A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm.]
ptosis-vocal cord paralysis syndrome	MONDO_0008665	[Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.]
Pancreatic Small Cell Neuroendocrine Carcinoma	EFO_1000444	[An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells.]
pancreatic endocrine carcinoma	EFO_0007416	[An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.]
obsolete autosomal dominant neovascular inflammatory vitreoretinopathy	MONDO_0008664
Borderline personality disorder	HP_0012076	[A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions.]