Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Personality disorder	HP_0012075	[An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder.]
Pancreatic Glucagonoma	EFO_1000441	[A usually malignant, glucagon-producing neuroendocrine tumor arising from the pancreatic alpha cells. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. Almost 25% of patients experience thromboembolic complications, and 50% have liver metastases at the time of diagnosis.]
snowflake vitreoretinal degeneration	MONDO_0008663	[Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.]
vitreoretinal degeneration	MONDO_0020248
Pancreatic Large Cell Neuroendocrine Carcinoma	EFO_1000442	[An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells.]
large cell neuroendocrine carcinoma	EFO_0000563	[A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas.]
autosomal dominant vitreoretinochoroidopathy	MONDO_0008662	[Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.]
Pancreatic Gastrinoma	EFO_1000440	[A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption.]
autosomal dominant hypophosphatemic rickets	MONDO_0008660	[Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.]
hereditary hypophosphatemic rickets	MONDO_0000044	[Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.]
abnormal mineralization disorder	MONDO_0800096	[A skeletal dysplasia where osteoid becomes calcified.]
Waardenburg syndrome type 1	MONDO_0008670	[Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.]
diacylglycerol 42:7 measurement	EFO_0020068	[The quantification of diacylglycerol 42:7 levels in a sample, typically blood ]
diacylglycerol 44:7 measurement	EFO_0020069	[The quantification of diacylglycerol 44:7 levels in a sample, typically blood ]
Papillary Meningioma	EFO_1000449	[A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.]
diacylglycerol 36:5 measurement	EFO_0020064	[The quantification of diacylglycerol 36:5 levels in a sample, typically blood ]
diacylglycerol 38:3 measurement	EFO_0020065	[The quantification of diacylglycerol 38:3 levels in a sample, typically blood ]
Papillary Craniopharyngioma	EFO_1000447	[A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)]
diacylglycerol 38:4 measurement	EFO_0020066	[The quantification of diacylglycerol 38:4 levels in a sample, typically blood ]
Papillary Cystic Neoplasm	EFO_1000448	[A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures.]