Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_mild hemophilia B	Orphanet_169799
papillary glioneuronal tumor	MONDO_0016735	[A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present.]
mixed neuronal-glial tumor	MONDO_0016729	[A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)]
Synophrys	HP_0000664	[Meeting of the medial eyebrows in the midline.]
rosette-forming glioneuronal tumor of fourth ventricule	MONDO_0016736	[A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.]
Horizontal nystagmus	HP_0000666	[Nystagmus consisting of horizontal to-and-fro eye movements.]
Nystagmus	HP_0000639	[Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.]
primary germ cell tumor of central nervous system	MONDO_0016738
Abnormal inflammatory response	HP_0012647	[Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.]
gangliocytoma	MONDO_0016730	[A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells.]
obsolete_combined oxidative phosphorylation defect type 11	Orphanet_324535
nasal cavity neoplasm	MONDO_0004756	[A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.]
disease of orbital part of eye adnexa	MONDO_0004751	[Diseases of the bony orbit and contents except the eyeball.]
language disorder	MONDO_0004750	[A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect.]
primary melanoma of the central nervous system	MONDO_0016747	[A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.]
primary melanocytic tumor of central nervous system	MONDO_0016744
central nervous system melanocytic neoplasm	MONDO_0003222	[A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.]
malignant tumor of meninges	MONDO_0021322	[A cancer that involves the meningeal cluster.]
hemangioblastoma	MONDO_0016748	[Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.]
nervous system benign neoplasm	MONDO_0000648	[Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).]