Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hereditary sensory and autonomic neuropathy type 7	MONDO_0014244	[Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.']
Schaaf-Yang syndrome	MONDO_0014243
Cervicitis	HP_0030160	[Inflammation of the uterine cervix.]
Microcephaly - polymicrogyria - corpus callosum agenesis	Orphanet_171703
obsolete_short stature-delayed bone age due to thyroid hormone metabolism deficiency	Orphanet_171706
obsolete_male infertility due to globozoospermia	Orphanet_171709
apocrine sweat gland disease	EFO_1002046	[A disease that involves the apocrine sweat gland.]
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	MONDO_0014258
obsolete_familial isolated arrhythmogenic right ventricular dysplasia	Orphanet_217656
familial hyperprolactinemia	MONDO_0014250	[Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.]
familial hypobetalipoproteinemia 1	MONDO_0014252	[Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.]
benign colon neoplasm	MONDO_0002278	[A non-metastasizing neoplasm arising from the wall of the colon.]
obsolete_Amish infantile epilepsy syndrome	Orphanet_171714
Flank pain	HP_0030157	[An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.]
Cutis laxa-Marfanoid syndrome	Orphanet_171719
Cholangitis	HP_0030151	[Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.]
Genetic 46,XY disorder of sex development of endocrine origin	Orphanet_325713
severe combined immunodeficiency due to IKK2 deficiency	MONDO_0014267	[Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.]
growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	MONDO_0014261	[Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.]
immunodeficiency, common variable, 10	MONDO_0014260	[Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.]