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	C0238394	Congenital Abnormality	Female Pseudohermaphroditism	Malformations of organs or body parts during development in utero.	Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. [https://orcid.org/0000-0002-0736-9199]
C0000768	associated_with	C0238395	Congenital Abnormality	Male Pseudohermaphroditism	Malformations of organs or body parts during development in utero.	Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. [https://orcid.org/0000-...
C0000768	associated_with	C0239849	Congenital Abnormality	Harlequin Fetus	Malformations of organs or body parts during development in utero.	A rare autosomal recessive congenital ichthyosis characterized at birth by the presence of large, thick, plate-like shell over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. Harlequin ichthyosis is the most severe disorder of this g...
C0000768	associated_with	C0240340	Congenital Abnormality	Microdontia (disorder)	Malformations of organs or body parts during development in utero.	Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. [https://orcid.org/0000-0002-9338-3017, PMID:19125428]
C0000768	associated_with	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	associated_with	C0247664	Congenital Abnormality	fibrinogen Bern I	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265509	Congenital Abnormality	Congenital anomaly of skeletal bone	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265517	Congenital Abnormality	Congenital anomaly of skeletal muscle	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265521	Congenital Abnormality	Congenital anomaly of muscle AND/OR tendon	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265527	Congenital Abnormality	Congenital anomaly of skull	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265533	Congenital Abnormality	Congenital deformity of forehead	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265535	Congenital Abnormality	Trigonocephaly	Malformations of organs or body parts during development in utero.	Premature fusion of the metopic suture.
C0000768	associated_with	C0265537	Congenital Abnormality	Craniolacunia	Malformations of organs or body parts during development in utero.	A congenital abnormality characterized by round or oval shaped defects in the membranous skull vault resulting in non-ossified, honey comb-like areas in the calvaria.
C0000768	associated_with	C0265543	Congenital Abnormality	Congenital anomaly of face bones	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265596	Congenital Abnormality	Talipomanus	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265603	Congenital Abnormality	Manus plana	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265605	Congenital Abnormality	Congenital anomaly of finger	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265615	Congenital Abnormality	Congenital deformity of hip joint	Malformations of organs or body parts during development in utero.	Any anatomic abnormality of the hip that is present at the time of birth.
C0000768	associated_with	C0265655	Congenital Abnormality	Congenital anomaly of toe	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265663	Congenital Abnormality	Congenital deformity of ankle joint	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265671	Congenital Abnormality	Discoid meniscus	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265684	Congenital Abnormality	Congenital deformity of sacroiliac joint	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265697	Congenital Abnormality	Congenital deformity of chest wall	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265708	Congenital Abnormality	Congenital anomaly of the pelvis	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265734	Congenital Abnormality	Congenital anomaly of upper respiratory system	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	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	associated_with	C0265745	Congenital Abnormality	Deformity of nasal sinus wall	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265749	Congenital Abnormality	Congenital anomaly of larynx	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265751	Congenital Abnormality	Congenital anomaly of cricoid cartilage	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265753	Congenital Abnormality	Congenital anomaly of thyroid cartilage	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265764	Congenital Abnormality	Congenital anomaly of trachea	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265773	Congenital Abnormality	Congenital anomaly of tracheal cartilage	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265774	Congenital Abnormality	Congenital anomaly of bronchus	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265799	Congenital Abnormality	Unilateral congenital dysplasia of lung with vascular anomalies	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265801	Congenital Abnormality	Congenital anomaly of pleural folds	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265820	Congenital Abnormality	Congenital anomaly of heart valve	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265825	Congenital Abnormality	Monocuspid cardiac valve	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265826	Congenital Abnormality	Bicuspid cardiac valve	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265827	Congenital Abnormality	Quadricuspid cardiac valve	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265828	Congenital Abnormality	Myxomatosis of cardiac valve	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265830	Congenital Abnormality	Congenital pulmonary valve abnormality	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265839	Congenital Abnormality	Ebstein's anomaly with atrial septal defect	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265841	Congenital Abnormality	Congenital anomaly of aortic valve	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265845	Congenital Abnormality	Congenital anomaly of mitral valve	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265871	Congenital Abnormality	Anomalous muscle bands of right ventricle	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265872	Congenital Abnormality	Anomalous muscle bands of left ventricle	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265914	Congenital Abnormality	Anomalous pulmonary vein	Malformations of organs or body parts during development in utero.	An abnormality of the pulmonary veins. [https://orcid.org/0000-0002-0736-9199]
C0000768	associated_with	C0265925	Congenital Abnormality	Congenital anomaly of vena cava	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265928	Congenital Abnormality	Congenital anomaly of superior vena cava	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265932	Congenital Abnormality	Congenital anomaly of inferior vena cava	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265935	Congenital Abnormality	Congenital anomaly of artery	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265943	Congenital Abnormality	Congenital anomaly of cerebral artery	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265961	Congenital Abnormality	Erythrokeratodermia variabilis	Malformations of organs or body parts during development in utero.	An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals ofte...
C0000768	associated_with	C0265962	Congenital Abnormality	Ichthyosis linearis circumflexa	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265963	Congenital Abnormality	Congenital keratoderma	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265965	Congenital Abnormality	Dyskeratosis Congenita	Malformations of organs or body parts during development in utero.	A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr...
C0000768	associated_with	C0265966	Congenital Abnormality	Hereditary benign intraepithelial dyskeratosis	Malformations of organs or body parts during development in utero.	A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in H...
C0000768	associated_with	C0265967	Congenital Abnormality	Porokeratosis of Mibelli, plaque type	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265968	Congenital Abnormality	Porokeratosis of Mibelli, superficial disseminated type	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265969	Congenital Abnormality	Porokeratosis of Mibelli, linear unilateral type	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265970	Congenital Abnormality	Porokeratosis, Disseminated Superficial Actinic	Malformations of organs or body parts during development in utero.	A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.
C0000768	associated_with	C0265971	Congenital Abnormality	Acrokeratosis Verruciformis of Hopf	Malformations of organs or body parts during development in utero.	An alleleic variant of Darier's disease.
C0000768	associated_with	C0265988	Congenital Abnormality	Congenital accessory skin tag	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265989	Congenital Abnormality	Congenital scar	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265991	Congenital Abnormality	Congenital anomaly of hair	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0265997	Congenital Abnormality	Congenital anomaly of nail	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266001	Congenital Abnormality	Congenital leukonychia	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266003	Congenital Abnormality	Subungual fibroma	Malformations of organs or body parts during development in utero.	The presence of fibromata beneath finger or toenails. [https://orcid.org/0000-0002-0736-9199]
C0000768	associated_with	C0266007	Congenital Abnormality	Congenital anomaly of subcutaneous tissue	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266008	Congenital Abnormality	Congenital anomaly of breast	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	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	associated_with	C0266031	Congenital Abnormality	Concrescence of teeth	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266036	Congenital Abnormality	Macrodontia (disorder)	Malformations of organs or body parts during development in utero.	Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. [https://orcid.org/0000-0002-9338-3017, PMID:19125428]
C0000768	associated_with	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	associated_with	C0266039	Congenital Abnormality	Taurodontism	Malformations of organs or body parts during development in utero.	Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. [https://orcid.org/0000-0002-9338-3017, PMID:31468724]
C0000768	associated_with	C0266040	Congenital Abnormality	Mesotaurodontism	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266041	Congenital Abnormality	Hypertaurodontism	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266042	Congenital Abnormality	Non-fluoride enamel opacities	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266048	Congenital Abnormality	Dilaceration of tooth	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266057	Congenital Abnormality	Anomaly of dental arch	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266073	Congenital Abnormality	Congenital asymmetry of jaw	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266115	Congenital Abnormality	Lethal glossopharyngeal defect	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266120	Congenital Abnormality	Congenital anomaly of pharynx	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266126	Congenital Abnormality	Congenital anomaly of esophagus	Malformations of organs or body parts during development in utero.	A structural abnormality of the esophagus. [https://orcid.org/0000-0002-0736-9199]
C0000768	associated_with	C0266142	Congenital Abnormality	Congenital anomaly of stomach	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266169	Congenital Abnormality	Congenital anomaly of small intestine	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266188	Congenital Abnormality	Congenital anomaly of large intestine	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266203	Congenital Abnormality	Congenital anomaly of appendix	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266226	Congenital Abnormality	Congenital anomaly of anus	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266235	Congenital Abnormality	Universal mesentery	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266239	Congenital Abnormality	Congenital anomaly of bile ducts	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266249	Congenital Abnormality	Gallbladder anomaly congenital	Malformations of organs or body parts during development in utero.	An abnormality of the gallbladder. [https://orcid.org/0000-0002-0736-9199]
C0000768	associated_with	C0266257	Congenital Abnormality	Congenital anomaly of liver	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266271	Congenital Abnormality	Congenital anomaly of endocrine gland	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266278	Congenital Abnormality	Congenital anomaly of parathyroid glands	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266281	Congenital Abnormality	Congenital anomaly of the thyroid gland	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266287	Congenital Abnormality	Congenital anomaly of pituitary gland	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266292	Congenital Abnormality	Congenital anomaly of the kidney	Malformations of organs or body parts during development in utero.	An abnormality of the kidney. [https://orcid.org/0000-0002-0736-9199]
C0000768	associated_with	C0266300	Congenital Abnormality	Congenital calculus of kidney	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0266314	Congenital Abnormality	Congenital anomaly of renal pelvis	Malformations of organs or body parts during development in utero.	null

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