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	C0156119	Congenital Abnormality	Umbilical hernia with gangrene	Malformations of organs or body parts during development in utero.	A protrusion of necrotic tissue through the abdominal wall under the skin near the umbilicus.
C0000768	has_associated_morphology	C0156133	Congenital Abnormality	Obstructed umbilical hernia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0156206	Congenital Abnormality	Bile duct calculus with acute cholecystitis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0156208	Congenital Abnormality	Bile duct calculus with acute cholecystitis and obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0156209	Congenital Abnormality	Calculus of bile duct with other cholecystitis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0156211	Congenital Abnormality	Calculus of bile duct with other cholecystitis, with obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0156212	Congenital Abnormality	Calculus of bile duct without mention of cholecystitis, without mention of obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0156724	Congenital Abnormality	Fetus papyraceous	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158489	Congenital Abnormality	Acquired clubfoot	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158505	Congenital Abnormality	Thoracogenic scoliosis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158530	Congenital Abnormality	Anencephaly and similar malformations	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158534	Congenital Abnormality	Spina bifida without mention of hydrocephalus, site unspecified	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158535	Congenital Abnormality	Spina bifida, without mention of hydrocephalus, cervical region	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158536	Congenital Abnormality	Spina bifida, without mention of hydrocephalus, dorsal (thoracic) region	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158537	Congenital Abnormality	Spina bifida, without mention of hydrocephalus, lumbar region	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158538	Congenital Abnormality	Other congenital anomalies of nervous system	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158557	Congenital Abnormality	Congenital corneal opacity interfering with vision	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158564	Congenital Abnormality	Congenital vitreous anomaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158566	Congenital Abnormality	Congenital chorioretinal degeneration	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158567	Congenital Abnormality	Congenital fold and cyst of posterior segment of eye	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158568	Congenital Abnormality	Congenital macular changes	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158572	Congenital Abnormality	Congenital anomalies of eyelid, lacrimal system and orbit	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158575	Congenital Abnormality	Other specified congenital anomalies of eyelid	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158581	Congenital Abnormality	Ear, face and neck congenital anomalies	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158587	Congenital Abnormality	Congenital anomaly of ossicles of ear	Malformations of organs or body parts during development in utero.	Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients fre...
C0000768	has_associated_morphology	C0158595	Congenital Abnormality	Branchial cleft cyst or fistula; preauricular sinus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158598	Congenital Abnormality	Preauricular sinus or fistula	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158599	Congenital Abnormality	Preauricular cyst	Malformations of organs or body parts during development in utero.	Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcut...
C0000768	has_associated_morphology	C0158611	Congenital Abnormality	Other congenital malformations of heart	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158616	Congenital Abnormality	Congenital tricuspid atresia and stenosis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158617	Congenital Abnormality	Congenital insufficiency of aortic valve	Malformations of organs or body parts during development in utero.	Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.
C0000768	has_associated_morphology	C0158618	Congenital Abnormality	Congenital stenosis of mitral valve	Malformations of organs or body parts during development in utero.	Mitral valve stenosis that is present at birth.
C0000768	has_associated_morphology	C0158619	Congenital Abnormality	Congenital insufficiency of mitral valve	Malformations of organs or body parts during development in utero.	Mitral valve insufficiency that is present at birth.
C0000768	has_associated_morphology	C0158623	Congenital Abnormality	Congenital anomaly of coronary artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158625	Congenital Abnormality	Other congenital malformations of circulatory system	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158629	Congenital Abnormality	Congenital anomaly of aortic arch	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158632	Congenital Abnormality	Anomalies of great veins	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158634	Congenital Abnormality	Partial anomalous pulmonary venous connection	Malformations of organs or body parts during development in utero.	A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0158644	Congenital Abnormality	Congenital anomaly of lung	Malformations of organs or body parts during development in utero.	A malformation in the lung that is present at birth. Representative examples include pulmonary hypoplasia, pulmonary agenesis, congenital lobar emphysema, and alveolar capillary dysplasia.
C0000768	has_associated_morphology	C0158674	Congenital Abnormality	Congenital hiatus hernia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158678	Congenital Abnormality	Other congenital malformations of digestive system	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158679	Congenital Abnormality	Congenital anomaly of fixation of intestine	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158683	Congenital Abnormality	Polycystic liver disease	Malformations of organs or body parts during development in utero.	A usually asymptomatic hereditary disorder which is often associated with polycystic kidney disease. It is characterized by the presence of fluid-filled biliary cysts throughout the liver.
C0000768	has_associated_morphology	C0158688	Congenital Abnormality	Congenital anomaly of ovary	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158699	Congenital Abnormality	Renal agenesis and dysgenesis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158709	Congenital Abnormality	certain congenital musculoskeletal deformities	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158716	Congenital Abnormality	Congenital dislocation of one hip with subluxation of other hip	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158720	Congenital Abnormality	Congenital bowing of tibia and/or fibula	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158722	Congenital Abnormality	Congenital talipes varus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158725	Congenital Abnormality	Other congenital varus deformities of feet	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158729	Congenital Abnormality	Other congenital deformities of feet	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158732	Congenital Abnormality	Other congenital anomalies of limbs	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158742	Congenital Abnormality	Longitudinal deficiency of upper limb	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158752	Congenital Abnormality	Transverse deficiency of leg	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158760	Congenital Abnormality	Congenital deformity of clavicle	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158761	Congenital Abnormality	Radioulnar Synostosis	Malformations of organs or body parts during development in utero.	An abnormal osseous union (fusion) between the radius and the ulna. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0158767	Congenital Abnormality	Congenital deformity of knee joint	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158768	Congenital Abnormality	Macrodactyly of toe	Malformations of organs or body parts during development in utero.	A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of a foot. Enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve...
C0000768	has_associated_morphology	C0158773	Congenital Abnormality	Other congenital musculoskeletal deformities	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158775	Congenital Abnormality	Congenital anomaly of spine	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158782	Congenital Abnormality	Congenital anomaly of diaphragm	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0158797	Congenital Abnormality	Congenital anomaly of adrenal gland	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0159015	Congenital Abnormality	Congenital hydrocele	Malformations of organs or body parts during development in utero.	Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through. [PMID:32644551]
C0000768	has_direct_morphology	C0161951	Congenital Abnormality	Correction of clubfoot	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0161982	Congenital Abnormality	Aneuploidy NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0162164	Congenital Abnormality	Congenital stenosis of pulmonary valve	Malformations of organs or body parts during development in utero.	A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subp...
C0000768	has_associated_morphology	C0162359	Congenital Abnormality	Christ-Siemens-Touraine syndrome	Malformations of organs or body parts during development in utero.	An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.
C0000768	has_associated_morphology	C0162361	Congenital Abnormality	Hidrotic Ectodermal Dysplasia	Malformations of organs or body parts during development in utero.	Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
C0000768	has_associated_morphology	C0162678	Congenital Abnormality	Neurofibromatoses	Malformations of organs or body parts during development in utero.	A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATO...
C0000768	has_associated_morphology	C0162809	Congenital Abnormality	Kallmann Syndrome	Malformations of organs or body parts during development in utero.	A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an ...
C0000768	has_associated_morphology	C0162838	Congenital Abnormality	Porokeratosis, Palmoplantar	Malformations of organs or body parts during development in utero.	A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterised by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones.
C0000768	has_associated_morphology	C0175699	Congenital Abnormality	Saethre-Chotzen Syndrome	Malformations of organs or body parts during development in utero.	A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.
C0000768	has_associated_morphology	C0175704	Congenital Abnormality	LEOPARD Syndrome	Malformations of organs or body parts during development in utero.	An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor ...
C0000768	has_associated_morphology	C0175707	Congenital Abnormality	Asplenia Syndrome	Malformations of organs or body parts during development in utero.	A rare heterotaxia characterized by complex congenital heart malformations and abnormal lateralization of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atriove...
C0000768	has_associated_morphology	C0175709	Congenital Abnormality	Centronuclear myopathy	Malformations of organs or body parts during development in utero.	A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance.
C0000768	has_associated_morphology	C0175743	Congenital Abnormality	Systematized epidermal nevus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0178426	Congenital Abnormality	Oligohydramnios sequence	Malformations of organs or body parts during development in utero.	A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features...
C0000768	has_direct_morphology	C0185379	Congenital Abnormality	Repair of macrodactyly	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0186689	Congenital Abnormality	Scapulopexy	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0186698	Congenital Abnormality	Release of high riding scapula	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0187307	Congenital Abnormality	Dewebbing of syndactyly of fingers	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0187495	Congenital Abnormality	Repair of cleft hand	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0187628	Congenital Abnormality	Repair of macrodactyly of finger	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0187629	Congenital Abnormality	Tsuge operation on finger for macrodactyly repair	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0187649	Congenital Abnormality	Closure of cleft hand	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0188587	Congenital Abnormality	Dewebbing of syndactyly of toes	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0188772	Congenital Abnormality	Reconstruction of toe for macrodactyly with bone resection	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0188774	Congenital Abnormality	Reconstruction of cleft foot	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0188860	Congenital Abnormality	Tendon transfer and arthrodesis to correct claw toe	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0188862	Congenital Abnormality	Modified Johanson operation for claw toe with arthrodesis	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0188864	Congenital Abnormality	Goldner clubfoot release	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0188865	Congenital Abnormality	Soft tissue release for correction of congenital deformity of forefoot	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0189982	Congenital Abnormality	Correction of tetralogy of Fallot, one-stage	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0190007	Congenital Abnormality	Creation of conduit of right ventricle and pulmonary artery in repair of pulmonary artery atresia	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0190629	Congenital Abnormality	Excision of aberrant renal artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0191427	Congenital Abnormality	Repair of syndactyly	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0191760	Congenital Abnormality	Removal of supernumerary toe	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0191761	Congenital Abnormality	Removal of supernumerary finger	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0191793	Congenital Abnormality	Supernumerary digit ligation	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0191794	Congenital Abnormality	Ligation of supernumerary toes	Malformations of organs or body parts during development in utero.	null

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