Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Pyoderma	HP_0000999	[Any manifestation of a skin disease associated with the production of pus.]
obsolete_Bloch-Sulzberger syndrome	EFO_1000672	[a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system.]
obsolete_bullous skin disease	EFO_1000673	[An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested.]
anhidrosis	EFO_1000670	[Lack of sweating or the ability to sweat when provoked by the appropriate stimulus., the inability to sweat normally. When you don't sweat (perspire), your body can't cool itself, which can lead to overheating and sometimes to heatstroke — a potentially fatal condition. Anhidrosis— sometimes called hypohidrosis — can be difficult to diagnose.]
sweat gland disease	EFO_1000772	[A disease involving the sweat gland., disorders or sweat glands]
bacterial exanthem	EFO_1000671	[A bacteria-induced exanthem, a bacteria-induced exanthem]
exanthem	EFO_1000697	[Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful., a widespread rash usually occurring in children but can occur in adults. An exanthem can be caused by toxins, drugs, or microorganisms, or can result from autoimmune disease. It can be contrasted with an enanthem.]
obsolete_hereditary palmoplantar keratoderma	Orphanet_79357
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	Orphanet_79351	[3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form]
3-phosphoserine phosphatase deficiency	Orphanet_79350	[3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).]
thyroid radioablation therapy	EFO_0009600	[Therapy using radioactive iodine for ablation of remnant thyroid tissue following a complete thyroidectomy to treat thyroid cancer.]
treatment	EFO_0000727	[A planned process intended to modify or alter a condition or characteristic of an organism or individual.]
testicular disease	EFO_0009601	[A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia., A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. [ NCIt:C26890 ]]
gonadal disorder	MONDO_0002259	[A non-neoplastic or neoplastic disorder that affects the testis or the ovary.]
male reproductive system disease	EFO_0009555	[A disease involving the male reproductive system.]
prostate disease	EFO_0009602	[A disease involving the prostate gland. [ MONDO:DesignPattern ], A disease involving the prostate gland.]
neuroendocrine disorder	MONDO_0100070	[A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.]
stomach disease	EFO_0009608	[A disease involving the stomach., A disease involving the stomach. [ MONDO:DesignPattern ]]
myocarditis	EFO_0009609	[Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus , Wegener's granulomatosis , giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and, rarely, a heart transplant may be needed if the heart muscle becomes weak. [ https://rarediseases.info.nih.gov/diseases/7137/myocarditis ], Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.]
myocardial disorder	MONDO_0024643	[A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.]