Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
pituitary hormone deficiency from tumoral origin	MONDO_0019833
hydrolethalus syndrome	MONDO_0006037	[Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.]
Placental Choriocarcinoma	EFO_1000479	[Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur.]
placenta cancer	MONDO_0002178	[A malignant neoplasm involving the placenta.]
gestational choriocarcinoma	MONDO_0020550	[Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole.]
achalasia microcephaly syndrome	MONDO_0008699	[Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed.]
Pineocytoma	EFO_1000476	[Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.]
pineal tumor of neuroepithelial tissue	MONDO_0016721
Benign Brain Neoplasm	EFO_1000107	[A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors., A benign neoplasm that involves the brain.]
benign endocrine neoplasm	MONDO_0000627	[A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.]
pineal parenchymal cell neoplasm	MONDO_0024890	[A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)]
Pituicytoma	EFO_1000477	[An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.]
posterior pituitary gland neoplasm	MONDO_0003257	[A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.]
diencephalic astrocytomas	MONDO_0003169	[A astrocytoma that involves the diencephalon.]
low-grade astrocytoma	MONDO_0016685
pituitary cancer	EFO_0005578	[A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract., An endocrine gland cancer located_in the pituitary gland located at the base of the brain.]
Pineal Parenchymal Tumor of Intermediate Differentiation	EFO_1000474	[A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)]
acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	MONDO_0008696	[This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.]
Pineoblastoma	EFO_1000475	[Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.]
pineal gland cancer	MONDO_0003249	[Abnormal malignant growth of the cells that comprise the pineal parenchyma.]