Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cloacal exstrophy	MONDO_0009774	[A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.]
Wildervanck syndrome	MONDO_0010759	[Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.]
interventricular septum aneurysm	MONDO_0007112	[Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.]
odonto-onycho-dermal dysplasia	MONDO_0009773	[A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.]
oculotrichodysplasia	MONDO_0009771	[Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.]
cranial division of the internal carotid artery	UBERON_2001059
Situs inversus totalis	Orphanet_101063
obsolete_Charcot-Marie-Tooth disease type 1B	Orphanet_101082
lethal omphalocele-cleft palate syndrome	MONDO_0009780	[Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.]
obsolete_Charcot-Marie-Tooth disease type 1C	Orphanet_101083
Orofaciodigital syndrome type 5	Orphanet_2919
histiocytoid cardiomyopathy	MONDO_0010771	[Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.]
obsolete_Charcot-Marie-Tooth disease type 1A	Orphanet_101081
obsolete_polydactyly-myopia syndrome	Orphanet_2917
Rh deficiency syndrome	MONDO_0019107	[The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.]
myopathy and diabetes mellitus	MONDO_0010773
Postaxial polydactyly - dental and vertebral anomalies	Orphanet_2916
dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	MONDO_0019102	[Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.]
retinal capillary malformation	MONDO_0019101	[Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.]
epithelium of small intestine	UBERON_0001902	[An epithelium that is part of a small intestine [Automatically generated definition].]