Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
partial deletion of the long arm of chromosome 16	MONDO_0016914
progressive myoclonic epilepsy with dystonia	MONDO_0018126	[A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.]
mitochondrial DNA maintenance syndrome	MONDO_0018121	[An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.]
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	MONDO_0018123	[Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.]
digital anomalies-intellectual disability-short stature syndrome	MONDO_0018122
endoderm	UBERON_0000925	[Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut.]
Major Salivary Gland Mucoepidermoid Carcinoma	EFO_1000346	[A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.]
salivary gland mucoepidermoid carcinoma	MONDO_0021009	[A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.]
Major Salivary Gland Carcinoma	EFO_1000344	[A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.]
obsolete_mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	Orphanet_319600
Malignancy in Giant Cell Tumor of Bone	EFO_1000347	[A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).]
malignant giant cell tumor	MONDO_0002402	[A malignant neoplasm characterized by then presence of atypical giant cells.]
salivary gland carcinoma	MONDO_0000521	[A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.]
major salivary gland cancer	MONDO_0044743	[A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.]
Major Salivary Gland Carcinoma ex Pleomorphic Adenoma	EFO_1000345	[A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.]
Salivary Gland Carcinoma ex Pleomorphic Adenoma	EFO_1000516	[A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.]
mesectoderm	UBERON_0000927	[A double row of cells which are located at the midline from the end of gastrulations. The morphology of these cells is distinct from adjacent ectodermal cells - they are elongated such that one end remains exposed to the outside of the embryo at the mideline while the other end bissects the internalised mesoderm.]
mesectoderm anlage	FBbt_00000109
Lymphoplasmacyte-Rich Meningioma	EFO_1000342	[A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.]
obsolete_lympoid tissue	EFO_1000343