Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
mutyh-associated polyposis	EFO_0009296	[An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.]
Genetic intestinal disease	Orphanet_165655
fg syndrome	EFO_0009297	[FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia , constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum . Medical problems including heart defects , seizures , undescended testicle , and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential. [ GARD:0002317 ], FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential.]
X-linked syndromic intellectual disability	MONDO_0020119	[A syndromic intellectual disability with an X-linked mode of inheritance.]
left ventricular mass index	EFO_0009290	[The left ventricular mass divided by the subject's body surface area]
E/A ratio	EFO_0009291	[The E/A ratio is a marker of the function of the left ventricle of the heart. It represents the ratio of peak velocity blood flow from gravity in early diastole (the E wave) to peak velocity flow in late diastole caused by atrial contraction (the A wave).]
bone marrow aspiration	EFO_0009292	[Aspiration of immature hematopoietic elements and blood from the bone marrow. It is done for the evaluation of hematopoietic disorders and for the evaluation of infectious diseases and cytogenetic studies. The procedure is usually done on the hip bone, breastbone, or thigh bone. A small area of skin and the surface of the bone underneath are numbed with an anesthetic. Then, a special wide needle is pushed into the bone. A sample of liquid bone marrow is removed with a syringe attached to the needle. The bone marrow is sent to a laboratory to be looked at under a microscope. This procedure may be done at the same time as a bone marrow biopsy.]
collecting specimen from organism	OBI_0600005	[a process with the objective to obtain a material entity that was part of an organism for potential future use in an investigation]
percutaneous kidney biopsy	EFO_0009293	[Removal of tissue from the kidney, for microscopic examination, obtained percutaneously.]
biopsy	EFO_0009120	[The removal of tissue specimens or fluid from the living body for examination, for example by microscopy, performed to establish a diagnosis.]
ARX-related encephalopathy-brain malformation spectrum	MONDO_0018496
syndromic urogenital tract malformation	MONDO_0015620	[A urogenital tract malformation that is part of a larger syndrome.]
ARX-related epileptic encephalopathy	MONDO_0015921
3-phosphoglycerate dehydrogenase deficiency	MONDO_0018491
neurometabolic disorder due to serine deficiency	MONDO_0018162	[Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.]
caudal anterior cingulate cortex volume measurement	EFO_0010289	[Quantification of the volume of the caudal anterior cingulate cortex.]
malignant hyperthermia of anesthesia	MONDO_0018493	[Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.]
muscular channelopathy	EFO_1001899	[A channelopathy that involves the muscle tissue.]
hereditary clear cell renal cell carcinoma	MONDO_0018492	[A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.]
clear cell renal carcinoma	EFO_0000349	[A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.]