Split (1)

train · 21.6M rows

CUI1 stringlengths 8 8	RELA stringlengths 3 54	CUI2 stringlengths 8 8	Name1 stringlengths 1 2.86k ⌀	Name2 stringlengths 1 2.86k ⌀	Def1 stringlengths 1 8.95k ⌀	Def2 stringlengths 1 8.95k ⌀
C0000768	has_associated_morphology	C0344507	Congenital Abnormality	Other specified congenital anomaly of lacrimal passages	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344509	Congenital Abnormality	Agenesis of punctum lacrimale	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344510	Congenital Abnormality	Supernumerary lacrimal punctum	Malformations of organs or body parts during development in utero.	A congenital developmental anomaly characterized by the presence of an additional lacrimal punctum in an eyelid. [PMID:19875171, PMID:25943682]
C0000768	has_associated_morphology	C0344511	Congenital Abnormality	Atresia of nasolacrimal duct	Malformations of organs or body parts during development in utero.	A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0344512	Congenital Abnormality	Congenital stenosis of nasolacrimal duct	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344513	Congenital Abnormality	Agenesis of nasolacrimal duct	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344514	Congenital Abnormality	Congenital lacrimal fistula	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344516	Congenital Abnormality	Coloboma of lens	Malformations of organs or body parts during development in utero.	A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual...
C0000768	has_associated_morphology	C0344520	Congenital Abnormality	Congenital polar cataract	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344521	Congenital Abnormality	Congenital anterior polar cataract	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344522	Congenital Abnormality	Congenital posterior polar cataract	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344524	Congenital Abnormality	Congenital sutural cataract	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344528	Congenital Abnormality	Corneal size and shape anomalies	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344529	Congenital Abnormality	Cornea plana	Malformations of organs or body parts during development in utero.	A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may prese...
C0000768	has_associated_morphology	C0344530	Congenital Abnormality	Congenital keratoglobus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344531	Congenital Abnormality	Embryotoxon	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344532	Congenital Abnormality	Congenital anterior embryotoxon	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344533	Congenital Abnormality	Congenital sclerocornea	Malformations of organs or body parts during development in utero.	A rare corneal disorder characterized by non-inflammatory, non-progressive, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities.
C0000768	has_associated_morphology	C0344534	Congenital Abnormality	Congenital anterior staphyloma	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344535	Congenital Abnormality	Congenital corneal opacity	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344536	Congenital Abnormality	Congenital corneal opacity without visual deficit	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344537	Congenital Abnormality	Congenital corneal opacity with visual deficit	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344538	Congenital Abnormality	Specified congenital anomalies of sclera	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344539	Congenital Abnormality	Hypoplasia of iris	Malformations of organs or body parts during development in utero.	Congenital underdevelopment of the iris. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0344544	Congenital Abnormality	Polycoria	Malformations of organs or body parts during development in utero.	Multiple pupils. [HPO_CONTRIBUTOR:DDD_ncarter]
C0000768	has_associated_morphology	C0344545	Congenital Abnormality	Pseudo-polycoria	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344546	Congenital Abnormality	Congenital heterochromia iridis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344547	Congenital Abnormality	Congenital cyst of iris	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344548	Congenital Abnormality	Congenital stricture of retinal artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344549	Congenital Abnormality	Congenital vitreous opacity	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344550	Congenital Abnormality	Congenital retinal fold	Malformations of organs or body parts during development in utero.	An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0344553	Congenital Abnormality	Specified congenital anomalies of optic disc	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344554	Congenital Abnormality	Specified anomalies of choroid	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344558	Congenital Abnormality	Trabecular dysgenesis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344559	Congenital Abnormality	Irido-corneo-trabecular dysgenesis (disorder)	Malformations of organs or body parts during development in utero.	Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.
C0000768	has_associated_morphology	C0344562	Congenital Abnormality	Ear osseous meatus atresia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344563	Congenital Abnormality	Congenital stricture of osseous meatus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344572	Congenital Abnormality	Branchial cleft sinus and fistula (disorder)	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344573	Congenital Abnormality	Branchial cleft internal sinus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344574	Congenital Abnormality	Branchial cleft external sinus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344576	Congenital Abnormality	Congenital disease and abnormality of heart, thoracic aorta and pericardium	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344580	Congenital Abnormality	Acardia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344583	Congenital Abnormality	Cor triloculare	Malformations of organs or body parts during development in utero.	A congenital anatomic anomaly in which the heart has only three chambers.
C0000768	has_associated_morphology	C0344584	Congenital Abnormality	Congenital anomaly of myocardium	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344585	Congenital Abnormality	Congenital aneurysm of heart	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344586	Congenital Abnormality	Congenital epicardial cyst	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344589	Congenital Abnormality	Fusion of heart valve cusps NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344591	Congenital Abnormality	Supernumerary heart valve cusps NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344592	Congenital Abnormality	Atresia of heart valve NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344593	Congenital Abnormality	Congenital insufficiency of heart valve NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344594	Congenital Abnormality	Congenital hypoplasia of heart	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344595	Congenital Abnormality	Obstructive heart anomaly NEC NOS	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344596	Congenital Abnormality	Congenital heart disease, septal and bulbar anomalies	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344597	Congenital Abnormality	Bulbus cordis and cardiac septal closure anomalies	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344598	Congenital Abnormality	Other heart bulb and septal closure defect	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344599	Congenital Abnormality	Heart bulb or septal closure defects NOS	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344606	Congenital Abnormality	Congenital abnormality of relationship of cardiac component	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344607	Congenital Abnormality	Abnormal relationship of right ventricle to left ventricle	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344608	Congenital Abnormality	Abnormal relationship of aortic orifice to pulmonary orifice	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344610	Congenital Abnormality	Congenital abnormality of cardiac connection	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344612	Congenital Abnormality	Abnormal atrioventricular connection	Malformations of organs or body parts during development in utero.	An abnormality of the circulatory connection between atria and ventricles. [HPO_CONTRIBUTOR:DDD_dbrown]
C0000768	has_associated_morphology	C0344613	Congenital Abnormality	Abnormal atrioventricular connection - biventricular	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344614	Congenital Abnormality	Common atrioventricular-type ventricular septal defect	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344615	Congenital Abnormality	Discordant atrioventricular connection	Malformations of organs or body parts during development in utero.	Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:23804932]
C0000768	has_associated_morphology	C0344616	Congenital Abnormality	Congenitally Corrected Transposition of the Great Arteries	Malformations of organs or body parts during development in utero.	A rare heart defect that occurs when the HEART VENTRICLES and attached valves, the MITRAL VALVE and the TRICUSPID VALVE are reversed so that the AORTA and the PULMONARY ARTERY are connected to the wrong ventricle. Although the heart valves and the two great arteries, the PULMONARY ARTERY and the AORTA are transposed, t...
C0000768	has_associated_morphology	C0344617	Congenital Abnormality	Ambiguous atrioventricular connection	Malformations of organs or body parts during development in utero.	With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic ri...
C0000768	has_associated_morphology	C0344618	Congenital Abnormality	Absent atrioventricular connection with straddling valve	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344619	Congenital Abnormality	Abnormal atrioventricular connection - univentricular	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344620	Congenital Abnormality	Double inlet ventricle	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344621	Congenital Abnormality	Double inlet right ventricle	Malformations of organs or body parts during development in utero.	The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0344622	Congenital Abnormality	Double inlet left ventricle	Malformations of organs or body parts during development in utero.	The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0344623	Congenital Abnormality	Double inlet to ventricle of indeterminate morphology	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344624	Congenital Abnormality	Absent right sided atrioventricular connection	Malformations of organs or body parts during development in utero.	A defect where there is no connection between the right atrium and right ventricle. [PMID:7104116]
C0000768	has_associated_morphology	C0344625	Congenital Abnormality	Left sided atrium connecting to left ventricle	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344626	Congenital Abnormality	Left sided atrium connecting to right ventricle	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344627	Congenital Abnormality	Left sided atrium connecting to both ventricles	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344628	Congenital Abnormality	Left sided atrium connecting to ventricle of indeterminate morphology	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344629	Congenital Abnormality	Absent left sided atrioventricular connection	Malformations of organs or body parts during development in utero.	A defect where there is no connection between the left atrium and left ventricle. [PMID:7104116]
C0000768	has_associated_morphology	C0344630	Congenital Abnormality	Right sided atrium connecting to right ventricle	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344632	Congenital Abnormality	Right sided atrium connecting to both ventricles	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344633	Congenital Abnormality	Right sided atrium connecting to ventricle of indeterminate morphology	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344636	Congenital Abnormality	Transposition of arterial trunk NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344637	Congenital Abnormality	Transposition of aorta	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344638	Congenital Abnormality	Other specified transposition of great vessels	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344639	Congenital Abnormality	Incomplete great vessel transposition	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344644	Congenital Abnormality	Double outlet right ventricle with doubly committed ventricular septal defect	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344645	Congenital Abnormality	Double outlet from ventricle of indeterminate morphology	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344646	Congenital Abnormality	Single outlet ventriculoarterial connection	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344647	Congenital Abnormality	Solitary aortic trunk with pulmonary atresia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344648	Congenital Abnormality	Solitary pulmonary trunk with aortic atresia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344649	Congenital Abnormality	Solitary arterial trunk	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344654	Congenital Abnormality	Abnormality of right superior vena cava	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344655	Congenital Abnormality	Atretic right superior vena cava	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344656	Congenital Abnormality	Absent right superior vena cava	Malformations of organs or body parts during development in utero.	Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the le...
C0000768	has_associated_morphology	C0344657	Congenital Abnormality	Saccular dilatation of right superior vena cava	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344658	Congenital Abnormality	Anomalous insertion of right superior vena cava to left atrium	Malformations of organs or body parts during development in utero.	A rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, cl...
C0000768	has_associated_morphology	C0344659	Congenital Abnormality	Bilateral Superior Vena Cava	Malformations of organs or body parts during development in utero.	The presence of a left and a right superior vena cava. [PMID:18847480]
C0000768	has_associated_morphology	C0344660	Congenital Abnormality	Levoatrial cardinal vein	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344661	Congenital Abnormality	Absent bridging vein	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344664	Congenital Abnormality	Congenital atresia of inferior vena cava	Malformations of organs or body parts during development in utero.	null

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