Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
mitochondrial complex 4 deficiency, nuclear type 11	MONDO_0033645
nongerminomatous germ cell tumor	MONDO_0021656	[A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.]
ovarian sex cord-stromal tumor	MONDO_0021657	[A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.]
adult-onset distal myopathy due to VCP mutation	MONDO_0018006	[Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.]
spastic paraplegia-Paget disease of bone syndrome	MONDO_0018005	[Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.]
autosomal dominant complex spastic paraplegia	MONDO_0015087	[Autosomal dominant form of complex hereditary spastic paraplegia.]
hereditary thrombocytosis with transverse limb defect	MONDO_0018000	[Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.]
congenital hematological disorder	MONDO_0009332	[A disorder of the blood that is present at birth.]
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	MONDO_0018002	[Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.]
inverse Klippel-Trenaunay syndrome	MONDO_0018001
vascular bone neoplasm	MONDO_0024499	[A benign, intermediate, or malignant vascular neoplasm that arises from the bone.]
congenital vascular bone syndrome	MONDO_0016524	[An alteration in limb growth caused by congenital vascular malformations in childhood]
parotid gland cancer	MONDO_0004700	[A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma.]
bile duct neoplasm	MONDO_0021662	[A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.]
biliary tract neoplasm	EFO_0003891	[A neoplasm that involves the biliary tract.]
mitochondrial complex 4 deficiency, nuclear type 10	MONDO_0033639
sarcomatoid squamous cell carcinoma	MONDO_0021663	[A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features.]
mitochondrial complex 4 deficiency, nuclear type 8	MONDO_0033638
mitochondrial complex 4 deficiency, nuclear type 7	MONDO_0033637
mitochondrial complex 4 deficiency, nuclear type 4	MONDO_0033636