Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cerebral cavernous malformation	MONDO_0000820	[A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.]
neurovascular malformation	MONDO_0015145
simple vascular malformation	MONDO_0016230
thymus neoplasm	EFO_0002626	[A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.]
obsolete_humeral agenesis/hypoplasia, unilateral	Orphanet_295061
persistent truncus arteriosus	MONDO_0018072	[A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.]
conotruncal heart malformations	MONDO_0016581	[Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).]
neural tube defect	MONDO_0018075	[A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.]
obsolete_femoral agenesis/hypoplasia, unilateral	Orphanet_295065
trisomy 18	MONDO_0018071	[Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.]
chromosome 18 disorder	MONDO_0700125	[Chromosomal disorder in which chromosome 18 is affected.]
obsolete_humeral agenesis/hypoplasia, bilateral	Orphanet_295063
familial multiple fibrofolliculoma	MONDO_0018070	[Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.]
obsolete_radial hemimelia, unilateral	Orphanet_295069
obsolete_femoral agenesis/hypoplasia, bilateral	Orphanet_295067
multiple congenital anomalies/dysmorphic syndrome without intellectual disability	MONDO_0015161
obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	Orphanet_319574
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	MONDO_0015160
genetic lethal multiple congenital anomalies/dysmorphic syndrome	MONDO_0043009	[An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.]
lethal multiple congenital anomalies/dysmorphic syndrome	MONDO_0018731