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	associated_with	C1314846	Congenital Abnormality	Fibrinogen Naples	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C1442897	Congenital Abnormality	Congenital discoid lateral meniscus	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C1691215	Congenital Abnormality	Penile hypospadias	Malformations of organs or body parts during development in utero.	Location of the urethral opening on the inferior aspect of the penis. [https://orcid.org/0000-0002-0736-9199]
C0000768	associated_with	C1704423	Congenital Abnormality	Milroy Disease	Malformations of organs or body parts during development in utero.	Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.
C0000768	associated_with	C1879312	Congenital Abnormality	Agyria	Malformations of organs or body parts during development in utero.	A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm. [http://www.wikidata.org/entity/Q90573458]
C0000768	associated_with	C2004465	Congenital Abnormality	Congenital malformation of upper alimentary tract	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C2362742	Congenital Abnormality	Microgyria	Malformations of organs or body parts during development in utero.	A congenital abnormality characterized by the presence of abnormally small convolutions in the brain. It results in mental retardation.
C0000768	associated_with	C2937220	Congenital Abnormality	Congenital abnormality of vein	Malformations of organs or body parts during development in utero.	A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually s...
C0000768	associated_with	C3495489	Congenital Abnormality	Rieger eye malformation sequence	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C3495676	Congenital Abnormality	Anorectal Malformations	Malformations of organs or body parts during development in utero.	Congenital defects in the anus and the rectum often involving the urinary and genital tracts.
C0000768	associated_with	C3665496	Congenital Abnormality	Congenital anomaly of cardiovascular system (disorder)	Malformations of organs or body parts during development in utero.	A heart or vascular abnormality which is inborn or present at birth.
C0000768	associated_with	C3714710	Congenital Abnormality	Mummified Fetus	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C3887496	Congenital Abnormality	Oligodactyly	Malformations of organs or body parts during development in utero.	A developmental defect resulting in the presence of fewer than the normal number of digits. [https://orcid.org/0000-0002-0736-9199]
C0000768	associated_with	C4048704	Congenital Abnormality	Diffuse palmoplantar keratoderma of Thost-Unna	Malformations of organs or body parts during development in utero.	An autosomally dominant inherited form of palmoplantar keratoderma that is characterized by a non-gradient diffuse pattern and often, hyperhidrosis of the palms of the hands and soles of the feet. It does not extend beyond the palms, knucklels pads, nails, and the soles.
C0000768	associated_with	C4551675	Congenital Abnormality	Keratoderma, Palmoplantar	Malformations of organs or body parts during development in utero.	Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).
C0000768	associated_with	C5550993	Congenital Abnormality	Mulberry molar teeth	Malformations of organs or body parts during development in utero.	Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry. []
C0000768	associated_with	C5574684	Congenital Abnormality	Congenital anomaly of lower limb	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C5574687	Congenital Abnormality	Congenital anomaly of hand	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C5574688	Congenital Abnormality	Congenital anomaly of upper limb	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C5848247	Congenital Abnormality	Lamellar ichthyosis (disorder)	Malformations of organs or body parts during development in utero.	A very rare, autosomal recessive inherited skin disorder present at birth. It is characterized by the presence of a transparent membrane encasing the newborn. This membrane sheds in about two weeks after birth to reveal generalized scaling and skin erythema.
C0000768	mapped_to	C0302142	Congenital Abnormality	Deformity	Malformations of organs or body parts during development in utero.	An anatomic abnormality that is either present at birth or appears later in life.
C0000768	mapped_to	C0730205	Congenital Abnormality	Congenital anomaly of trunk	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1385676	Congenital Abnormality	abdomen; deformity	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1387980	Congenital Abnormality	anomaly; organ	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1403385	Congenital Abnormality	lymphatic system; deformity	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0232910	Congenital Abnormality	Teratogenesis	Malformations of organs or body parts during development in utero.	The formation of CONGENITAL ABNORMALITIES.
C0000768	mapped_to	C0265355	Congenital Abnormality	Malformation sequence	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0302142	Congenital Abnormality	Deformity	Malformations of organs or body parts during development in utero.	An anatomic abnormality that is either present at birth or appears later in life.
C0000768	mapped_to	C0432366	Congenital Abnormality	Congenital malformation caused by cytotoxic agents	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0740500	Congenital Abnormality	Congenital anomaly of abdomen	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0741368	Congenital Abnormality	Congenital anomaly of back	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1285201	Congenital Abnormality	Congenital anomaly of body cavity	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1285202	Congenital Abnormality	Congenital anomaly of body wall	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1285205	Congenital Abnormality	Congenital anomaly of lower trunk	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1285206	Congenital Abnormality	Congenital anomaly of lymphatic structure of trunk	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1737329	Congenital Abnormality	Dysmorphism	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C3697746	Congenital Abnormality	Single congenital anomaly	Malformations of organs or body parts during development in utero.	null
C0000768	see_from	C0242354	Congenital Abnormality	Congenital Disorders	Malformations of organs or body parts during development in utero.	existing at, and usually before, birth; referring to conditions that are present at birth, regardless of their causation; inborn metabolism disorders are generally not treed here.
C0000768	contraindicated_with_disease	C0002335	Congenital Abnormality	alprostadil	Malformations of organs or body parts during development in utero.	A potent vasodilator agent that increases peripheral blood flow.
C0000768	may_treat	C0718043	Congenital Abnormality	sacrosidase	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0152436	Congenital Abnormality	Hymen, Imperforate	Malformations of organs or body parts during development in utero.	A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. [PMID:24822139]
C0000768	mapped_to	C0152438	Congenital Abnormality	Sprengel deformity	Malformations of organs or body parts during development in utero.	A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ...
C0000768	mapped_to	C0186005	Congenital Abnormality	Atlanto-Axial Fusion	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0265740	Congenital Abnormality	Arrhinia	Malformations of organs or body parts during development in utero.	An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arr...
C0000768	mapped_to	C0266251	Congenital Abnormality	Gallbladder, Agenesis Of	Malformations of organs or body parts during development in utero.	A rare biliary tract disease characterized by congenital absence of the gallbladder and cystic duct. The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledo...
C0000768	mapped_to	C0266268	Congenital Abnormality	Accessory pancreas	Malformations of organs or body parts during development in utero.	A rare asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.
C0000768	mapped_to	C0339851	Congenital Abnormality	Nasal Bones, Absence of	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0431637	Congenital Abnormality	Mullerian aplasia	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0858233	Congenital Abnormality	Stridor, Congenital	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1261251	Congenital Abnormality	Agenesis of vagina	Malformations of organs or body parts during development in utero.	A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.
C0000768	mapped_to	C1609433	Congenital Abnormality	Congenital absence of kidneys syndrome	Malformations of organs or body parts during development in utero.	A form of renal agenesis characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
C0000768	mapped_to	C1832948	Congenital Abnormality	Hydrocephalus, Skeletal Anomalies, and Mental Disturbance	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1835494	Congenital Abnormality	Laryngeal Web, Familial	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1837530	Congenital Abnormality	AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency	Malformations of organs or body parts during development in utero.	An extremely severe inborn error of purine biosynthesis with clinical characteristics in the single reported case to date of profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows and shoulders and congenital blindness. In the one reported case the disease was caused by compound heterozygous ...
C0000768	mapped_to	C1840311	Congenital Abnormality	Laryngeal cleft	Malformations of organs or body parts during development in utero.	A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.
C0000768	mapped_to	C1842614	Congenital Abnormality	Bile and Pancreatic Ducts, Complete Absence of	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1842884	Congenital Abnormality	Caudal Duplication Anomaly	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1842937	Congenital Abnormality	AURAL ATRESIA, CONGENITAL	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1849439	Congenital Abnormality	Renal and Mullerian Duct Hypoplasia	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1852455	Congenital Abnormality	Cryptotia, Familial	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1856727	Congenital Abnormality	Saito Kuba Tsuruta syndrome	Malformations of organs or body parts during development in utero.	This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones...
C0000768	mapped_to	C1857532	Congenital Abnormality	Crane-Heise syndrome	Malformations of organs or body parts during development in utero.	A very rare syndrome characterised by poorly mineralised calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agene...
C0000768	mapped_to	C1860464	Congenital Abnormality	Vertebral fusion posterior lumbosacral blepharoptosis	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1867222	Congenital Abnormality	Rhiny	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C1868659	Congenital Abnormality	Pancreas agenesis, dorsal	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C2931273	Congenital Abnormality	Schlegelberger Grote syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C2931773	Congenital Abnormality	Deal Barratt Dillon syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C3502469	Congenital Abnormality	Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia	Malformations of organs or body parts during development in utero.	A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic ne...
C0000768	mapped_to	C5574964	Congenital Abnormality	Patterson Stevenson Fontaine syndrome	Malformations of organs or body parts during development in utero.	A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies cons...
C0000768	mapped_to	C0220810	Congenital Abnormality	Congenital defects	Malformations of organs or body parts during development in utero.	<h3>What are birth defects?</h3> <p>A birth defect is a problem that happens while a <a href="https://medlineplus.gov/fetalhealthanddevelopment.html">baby is developing</a> in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born wit...
C0000768	see_from	C0597276	Congenital Abnormality	postnatal growth disorder	Malformations of organs or body parts during development in utero.	physical growth disorders occurring after birth.
C0000768	isa	C0013903	Congenital Abnormality	Ellis-Van Creveld Syndrome	Malformations of organs or body parts during development in utero.	Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)
C0000768	isa	C0151491	Congenital Abnormality	Congenital musculoskeletal anomalies	Malformations of organs or body parts during development in utero.	Congenital structural abnormalities and deformities of the musculoskeletal system.
C0000768	isa	C0158797	Congenital Abnormality	Congenital anomaly of adrenal gland	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0220708	Congenital Abnormality	VATER Association	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265708	Congenital Abnormality	Congenital anomaly of the pelvis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266271	Congenital Abnormality	Congenital anomaly of endocrine gland	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685700	Congenital Abnormality	Abnormal communication between pericardial sac and peritoneal cavity	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1302790	Congenital Abnormality	Congenital malformation syndrome	Malformations of organs or body parts during development in utero.	A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system.
C0000768	isa	C2957127	Congenital Abnormality	congenital malformations corrected	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C3649624	Congenital Abnormality	congenital malformations of sense organs	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C3649650	Congenital Abnormality	congenital absence, atresia, and stenosis of rectum	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C3649651	Congenital Abnormality	congenital absence, atresia, and stenosis of anus	Malformations of organs or body parts during development in utero.	null
C0000768	inverse_isa	C3649644	Congenital Abnormality	congenital conditions	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C3649106	Congenital Abnormality	fetal anomaly suspected	Malformations of organs or body parts during development in utero.	null
C0000768	inverse_isa	C0015929	Congenital Abnormality	Fetal Diseases	Malformations of organs or body parts during development in utero.	Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
C0000768	same_as	C3662138	Congenital Abnormality	Disorder of fetal structure	Malformations of organs or body parts during development in utero.	null
C0000768	clinically_associated_with	C0015927	Congenital Abnormality	Fetal Death	Malformations of organs or body parts during development in utero.	Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.
C0000768	co-occurs_with	C0743966	Congenital Abnormality	Ultrasound foetal abnormal	Malformations of organs or body parts during development in utero.	null
C0000768	co-occurs_with	C0746965	Congenital Abnormality	OB ULTRASOUND ABNORMAL	Malformations of organs or body parts during development in utero.	null
C0000768	clinically_associated_with	C0748732	Congenital Abnormality	SIZE DATES	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0242354	Congenital Abnormality	Congenital Disorders	Malformations of organs or body parts during development in utero.	existing at, and usually before, birth; referring to conditions that are present at birth, regardless of their causation; inborn metabolism disorders are generally not treed here.
C0000768	mapped_to	C1302790	Congenital Abnormality	Congenital malformation syndrome	Malformations of organs or body parts during development in utero.	A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system.
C0000768	classifies	C5225914	Congenital Abnormality	Other specified and unspecified congenital anomalies	Malformations of organs or body parts during development in utero.	null
C0000768	default_inpatient_classification_of	C5225914	Congenital Abnormality	Other specified and unspecified congenital anomalies	Malformations of organs or body parts during development in utero.	null
C0000768	default_outpatient_classification_of	C5225914	Congenital Abnormality	Other specified and unspecified congenital anomalies	Malformations of organs or body parts during development in utero.	null
C0000768	inverse_was_a	C0242354	Congenital Abnormality	Congenital Disorders	Malformations of organs or body parts during development in utero.	existing at, and usually before, birth; referring to conditions that are present at birth, regardless of their causation; inborn metabolism disorders are generally not treed here.
C0000768	inverse_isa	C0158795	Congenital Abnormality	Other and unspecified congenital anomalies	Malformations of organs or body parts during development in utero.	null
C0000768	possibly_equivalent_to	C1535085	Congenital Abnormality	(Congenital anomaly NOS) or (thyroglossal cyst) or (situs inversus) or (Marfan's syndrome) or (tuberose sclerosis)	Malformations of organs or body parts during development in utero.	null
C0000768	has_occurrence	C1744681	Congenital Abnormality	Congenital (qualifier value)	Malformations of organs or body parts during development in utero.	Denoting something that is present at birth.

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