Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cat-eye syndrome	MONDO_0007276	[Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.]
cataract-aberrant oral frenula-growth delay syndrome	MONDO_0007277	[Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.]
essential strabismus	MONDO_0020252
pneumococcal pneumonia	EFO_1001474	[A febrile disease caused by STREPTOCOCCUS PNEUMONIAE.]
obsolete rare strabismus and restriction syndrome	MONDO_0020251
cataract 8 multiple types	MONDO_0007280	[A cataract that has material basis in variation in the region 1pter-p36.13.]
alpha-N-acetylgalactosaminidase deficiency type 3	MONDO_0019264	[Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.]
vitamin B12-unresponsive methylmalonic acidemia type mut-	MONDO_0019267	[Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.]
infantile neuronal ceroid lipofuscinosis	MONDO_0019261	[A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.]
non-obstructive coronary artery disease	EFO_1001483	[Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.]
cardiotoxicity	EFO_1001482	[Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue.]
autosomal erythropoietic protoporphyria	MONDO_0019263	[Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.]
erythropoietic protoporphyria	MONDO_0001676	[A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.]
Speech apraxia	HP_0011098	[A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.]
Abnormality of higher mental function	HP_0011446	[Cognitive, psychiatric or memory anomaly.]
metastatic colorectal cancer	EFO_1001480	[colorectal cancer that has already spread to distant sites and is considered stage IV]
cataract 13 with adult I phenotype	MONDO_0007289	[A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.]
skin and soft tissue Staphylococcus aureus infection	EFO_1001489	[Staphylococcus aureus infection that occurs specifically in skin or soft tissue and manifests through a specific range of symptoms including but not necesarrily limited to erysipelas, cellulitis, abscesses, mastitis, carbuncle and furuncle, acute lymphadenitis, impetigo, folliculitis and hidradenitis ]
Fused teeth	HP_0011090	[The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.]
influenza A (H1N1)	EFO_1001488	[Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe.]