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	isa	C0238207	Congenital Abnormality	Ectopic kidney	Malformations of organs or body parts during development in utero.	A developmental defect in which a kidney is located in an abnormal anatomic position. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0238522	Congenital Abnormality	Roger's disease	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0238591	Congenital Abnormality	Adactyly	Malformations of organs or body parts during development in utero.	The absence of all phalanges of all the digits of a limb and the associated soft tissues. [PMID:19125433]
C0000768	isa	C0240635	Congenital Abnormality	Byzanthine arch palate	Malformations of organs or body parts during development in utero.	Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). [PMID:19125428]
C0000768	isa	C0240896	Congenital Abnormality	Fundus coloboma	Malformations of organs or body parts during development in utero.	Absence of a region of the retina, retinal pigment epithelium, and choroid. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0242855	Congenital Abnormality	Congenital atresia of pulmonary valve	Malformations of organs or body parts during development in utero.	A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breat...
C0000768	isa	C0243002	Congenital Abnormality	Tricuspid Atresia	Malformations of organs or body parts during development in utero.	Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR) because the right ventricle is absent or not functional.
C0000768	isa	C0265275	Congenital Abnormality	Jeune thoracic dystrophy	Malformations of organs or body parts during development in utero.	A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated ...
C0000768	isa	C0265313	Congenital Abnormality	Weill-Marchesani syndrome	Malformations of organs or body parts during development in utero.	Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.
C0000768	isa	C0265414	Congenital Abnormality	7p partial monosomy	Malformations of organs or body parts during development in utero.	Deletion of the short arm of chromosome 7 with a phenotype consisting mainly of craniofacial abnormalities (flattened occiput, prominent forehead, craniosynostosis, microcephaly, malformed ears, eye and palpebral anomalies), congenital heart disease, genital malformations, hand abnormalities, and mild to severe mental ...
C0000768	isa	C0265451	Congenital Abnormality	Chromosome 13q deletion syndrome	Malformations of organs or body parts during development in utero.	A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation.
C0000768	isa	C0265464	Congenital Abnormality	Complete trisomy 16 syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265479	Congenital Abnormality	Chromosome 20, trisomy	Malformations of organs or body parts during development in utero.	A rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype. Principal characteristics are spinal abnormalities (stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalit...
C0000768	isa	C0265490	Congenital Abnormality	Trisomy 22	Malformations of organs or body parts during development in utero.	A chromosomal abnormality consisting of the presence of a third copy of chromosome 22 in somatic cells.
C0000768	isa	C0265493	Congenital Abnormality	Cat eye syndrome	Malformations of organs or body parts during development in utero.	A rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. Most patients have a ...
C0000768	isa	C0265510	Congenital Abnormality	Ectopic bone tissue, congenital	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265511	Congenital Abnormality	Accessory ossification center	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265512	Congenital Abnormality	Bone island	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265515	Congenital Abnormality	Acephalocheiria	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265516	Congenital Abnormality	Acephalorachia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265518	Congenital Abnormality	Congenital absence of skeletal muscle	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265520	Congenital Abnormality	Amyotrophia congenita	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265534	Congenital Abnormality	Scaphycephaly	Malformations of organs or body parts during development in utero.	Premature fusion of the sagittal suture.
C0000768	isa	C0265541	Congenital Abnormality	Cranioschisis	Malformations of organs or body parts during development in utero.	A congenital abnormality characterized by the failure of the bones of the skull to close.
C0000768	isa	C0265546	Congenital Abnormality	Polymelia	Malformations of organs or body parts during development in utero.	Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb...
C0000768	isa	C0265549	Congenital Abnormality	Partial congenital absence of limb	Malformations of organs or body parts during development in utero.	Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot. [https://orcid.org/0000-0002...
C0000768	isa	C0265551	Congenital Abnormality	Dimelia	Malformations of organs or body parts during development in utero.	Congenital duplication of all or part of a limb. []
C0000768	isa	C0265554	Congenital Abnormality	Ectrodactyly	Malformations of organs or body parts during development in utero.	A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities.
C0000768	isa	C0265565	Congenital Abnormality	Congenital pseudarthrosis of clavicle	Malformations of organs or body parts during development in utero.	A rare dysostosis of genetic origin characterized by a painless mass over the clavicle which is due to the failure of the union process of the ossification nuclei of the clavicle.
C0000768	isa	C0265592	Congenital Abnormality	Congenital absence of finger	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265596	Congenital Abnormality	Talipomanus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265597	Congenital Abnormality	Congenital spade-like hand	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265600	Congenital Abnormality	Manus cava	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265607	Congenital Abnormality	Congenital hypoplasia of finger	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265608	Congenital Abnormality	Bifid thumb	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265609	Congenital Abnormality	Accessory carpal bones	Malformations of organs or body parts during development in utero.	The presence of more than the normal number of carpal bones. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0265622	Congenital Abnormality	Congenital absence of all toes	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265623	Congenital Abnormality	Congenital absence of leg, including foot and toes	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265624	Congenital Abnormality	Congenital absence of foot	Malformations of organs or body parts during development in utero.	The total absence of the foot, with no bony elements distal to the tibia or fibula. [PMID:19125433]
C0000768	isa	C0265627	Congenital Abnormality	Incomplete congenital absence of thigh AND leg	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265639	Congenital Abnormality	Complete aphalangia of lower limb	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265640	Congenital Abnormality	Partial aphalangia of lower limb	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265641	Congenital Abnormality	Congenital absence of toe	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265661	Congenital Abnormality	Congenital pseudoarthrosis of tibia	Malformations of organs or body parts during development in utero.	A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.
C0000768	isa	C0265666	Congenital Abnormality	Bifid patella	Malformations of organs or body parts during development in utero.	A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0265673	Congenital Abnormality	Congenital kyphosis	Malformations of organs or body parts during development in utero.	An abnormally increased curvature of the thoracic portion of the spine that is present at the time of birth.
C0000768	isa	C0265675	Congenital Abnormality	Congenital postural scoliosis	Malformations of organs or body parts during development in utero.	Abnormal sideways curvature of the spine that is present at birth.
C0000768	isa	C0265678	Congenital Abnormality	Congenital fusion of spine	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265679	Congenital Abnormality	Platyspondylia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265680	Congenital Abnormality	Spondyloschisis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265681	Congenital Abnormality	Supernumerary vertebra	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265689	Congenital Abnormality	Congenital lumbosacral stenosis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265689	Congenital Abnormality	Congenital lumbosacral stenosis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265694	Congenital Abnormality	Congenital fissure of sternum	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265695	Congenital Abnormality	Congenital fusion of ribs	Malformations of organs or body parts during development in utero.	Complete or partial merging of adjacent ribs. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0265701	Congenital Abnormality	Congenital eventration of diaphragm	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265706	Congenital Abnormality	Gastroschisis	Malformations of organs or body parts during development in utero.	A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM.
C0000768	isa	C0265707	Congenital Abnormality	Celoschisis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265736	Congenital Abnormality	Congenital anomaly of nose	Malformations of organs or body parts during development in utero.	An abnormality of the nose. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	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	isa	C0265741	Congenital Abnormality	Accessory nose	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265748	Congenital Abnormality	Congenital enlargement of nasopharynx	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265815	Congenital Abnormality	Premature closure of foramen ovale	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265822	Congenital Abnormality	Double cardiac valve orifice	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265826	Congenital Abnormality	Bicuspid cardiac valve	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265829	Congenital Abnormality	Congenital valvular insufficiency	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265839	Congenital Abnormality	Ebstein's anomaly with atrial septal defect	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265843	Congenital Abnormality	Congenital atresia of aortic valve	Malformations of organs or body parts during development in utero.	A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0265844	Congenital Abnormality	Double aortic valve	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265848	Congenital Abnormality	Supernumerary cusps of the mitral valve	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265849	Congenital Abnormality	Double mitral valve	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265850	Congenital Abnormality	Fused commissures of mitral valve	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265851	Congenital Abnormality	Congenital supravalvular mitral stenosis	Malformations of organs or body parts during development in utero.	Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension,...
C0000768	isa	C0265857	Congenital Abnormality	Uhl anomaly	Malformations of organs or body parts during development in utero.	Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly s...
C0000768	isa	C0265862	Congenital Abnormality	Abdominal heart	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265874	Congenital Abnormality	Congenital diverticulum of left ventricle	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265887	Congenital Abnormality	Persistent aortic arch convolutions	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265915	Congenital Abnormality	Congenital stenosis of pulmonary veins	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265927	Congenital Abnormality	Congenital stenosis of vena cava	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265950	Congenital Abnormality	Venous malformation	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265951	Congenital Abnormality	Congenital absence of vein	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265952	Congenital Abnormality	Congenital atresia of vein	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0265992	Congenital Abnormality	Congenital alopecia	Malformations of organs or body parts during development in utero.	A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.
C0000768	isa	C0265998	Congenital Abnormality	ANONYCHIA	Malformations of organs or body parts during development in utero.	Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychi...
C0000768	isa	C0266009	Congenital Abnormality	Congenital absence of breast	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266010	Congenital Abnormality	Accessory breast	Malformations of organs or body parts during development in utero.	A rare breast malformation characterized by the presence of accessory breasts with a complete ductal system, areola, and nipple in addition to two normal breasts. The accessory breast tissue mostly lies along the milk lines. It is often not recognized until puberty, when it begins to respond to regular hormonal fluctua...
C0000768	isa	C0266012	Congenital Abnormality	Ectopic breast tissue	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266013	Congenital Abnormality	Congenital hypoplasia of breast	Malformations of organs or body parts during development in utero.	Underdevelopment of the breast. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0266015	Congenital Abnormality	Congenital digestive system anomalies	Malformations of organs or body parts during development in utero.	Congenital structural abnormalities of the DIGESTIVE SYSTEM.
C0000768	isa	C0266017	Congenital Abnormality	Congenital absence of alimentary tract	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266019	Congenital Abnormality	Congenital duplication of digestive organs	Malformations of organs or body parts during development in utero.	A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus. [https://orcid.org/0000-0002-0736-9199, PMID:21218094]
C0000768	isa	C0266025	Congenital Abnormality	Ectopic tooth	Malformations of organs or body parts during development in utero.	<p>Ectopic tooth</p>
C0000768	isa	C0266027	Congenital Abnormality	Turner's tooth	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266029	Congenital Abnormality	Tuberculum paramolare (disorder)	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266030	Congenital Abnormality	Mesiodens	Malformations of organs or body parts during development in utero.	A supernumerary tooth located near the midline of the dental arch between two central incisors.
C0000768	isa	C0266034	Congenital Abnormality	Dens evaginatus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266037	Congenital Abnormality	Peg-shaped teeth	Malformations of organs or body parts during development in utero.	An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
C0000768	isa	C0266038	Congenital Abnormality	Supernumerary root of tooth	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266063	Congenital Abnormality	Deep overbite	Malformations of organs or body parts during development in utero.	Increased superior-inferior overlap of the maxillary central incisors over the mandibular central incisors relative to the incisal ridges.
C0000768	isa	C0266073	Congenital Abnormality	Congenital asymmetry of jaw	Malformations of organs or body parts during development in utero.	null

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