Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_lipodystrophy due to peptidic growth factors deficiency	Orphanet_1979
metabolically healthy obesity	EFO_0009382	[Long-standing obesity without metbolic abnormalities or obesity-related comorbidities such as type 2 diabetes or heart disease]
obesity	EFO_0001073	[A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)., A disorder involving an excessive amount of body fat., An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.]
congenital urachal anomaly	MONDO_0018565	[Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum.]
non-syndromic urogenital tract malformation of male and female	MONDO_0015934
non-syndromic renal or urinary tract malformation	MONDO_0019720	[A renal or urinary tract malformation that is not part of a larger syndrome.]
Leishmania donovani	NCBITaxon_5661
tumoral calcinosis, hyperphosphatemic, familial, 2	EFO_0009383
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	Orphanet_306661	[A form of familial tumoral calcinosis occurring in a setting of hyperphosphatemia.]
hereditary disorder of connective tissue	MONDO_0023603	[An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.]
bone neoplasm	EFO_0003820	[Tumors or cancer located in bone tissue or specific BONES., A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.]
primary bone dysplasia with increased bone density	MONDO_0800084
Leishmania braziliensis	NCBITaxon_5660
tumoral calcinosis, hyperphosphatemic, familial, 3	EFO_0009384
familial tumoral calcinosis	EFO_0009385	[Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis., Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.]
calcinosis	MONDO_0002123	[Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.]
Rare genetic tumor	Orphanet_68336
endocrine neoplasm	EFO_0003769	[A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma., Tumors or cancer of the ENDOCRINE GLANDS.]
precocious puberty in female	MONDO_0018561	[A precocious puberty that involves the female organism.]
precocious puberty	MONDO_0000088	[Unusually early sexual maturity.]