Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
mitochondrial complex 4 deficiency, nuclear type 3	MONDO_0033635
Peritoneal Mesothelioma	EFO_1000467	[A benign or malignant mesothelial neoplasm that arises from the peritoneum.]
peritoneal neoplasm	EFO_1001100	[A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.]
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	MONDO_0008689
dehydrated hereditary stomatocytosis	MONDO_0017910	[Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.]
Peritoneal Multicystic Mesothelioma	EFO_1000468	[A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare.]
WT limb-blood syndrome	MONDO_0008688	[WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.]
penile cancer	MONDO_0001325	[A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.]
Penile Fibromatosis	EFO_1000466	[Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect.]
penile neoplasm	EFO_1001094	[A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.]
isolated familial woolly hair disorder	MONDO_0008686	[Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.]
Edema of the dorsum of feet	HP_0012098	[An abnormal accumulation of fluid beneath the skin on the back of the feet.]
Parotid Gland Squamous Cell Carcinoma	EFO_1000463	[An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.]
PEComa	EFO_1000464	[A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.]
Wolf-Hirschhorn syndrome	MONDO_0008684	[Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.]
chromosome 4 short arm deletion	MONDO_0022762
Parotid Gland Carcinoma ex Pleomorphic Adenoma	EFO_1000461	[A carcinoma that arises from a pleomorphic adenoma 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.]
Parotid Gland Pleomorphic Adenoma	EFO_1000462	[A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men.]
Denys-Drash syndrome	MONDO_0008682	[Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.]
abetalipoproteinemia	MONDO_0008692	[Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.]