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	C0334533	Congenital Abnormality	Arteriovenous hemangioma	Malformations of organs or body parts during development in utero.	A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.
C0000768	has_associated_morphology	C0338503	Congenital Abnormality	Septo-Optic Dysplasia	Malformations of organs or body parts during development in utero.	A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM; CORPUS CALLOSUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the HYPO...
C0000768	has_associated_morphology	C0339839	Congenital Abnormality	Choanal atresia with CHARGE association	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0339850	Congenital Abnormality	Congenital absence of nasal bone	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0339852	Congenital Abnormality	Nasal dermoid	Malformations of organs or body parts during development in utero.	An ectodermal inclusion cyst containing skin and skin appendages; sebaceous glands, hair follicles, and occasionally sweat glands. [PMID:27895540]
C0000768	has_associated_morphology	C0339853	Congenital Abnormality	Median nasal dermoid fistula	Malformations of organs or body parts during development in utero.	A rare otorhinolaryngological malformation characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous...
C0000768	has_associated_morphology	C0339864	Congenital Abnormality	Bifid epiglottis	Malformations of organs or body parts during development in utero.	A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. [https://orcid.org/0000-0002-0736-...
C0000768	has_associated_morphology	C0340034	Congenital Abnormality	Primary ciliary dyskinesia due to transposition of ciliary microtubules	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340035	Congenital Abnormality	Immotile cilia syndrome, due to defective radial spokes	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340036	Congenital Abnormality	Immotile cilia syndrome, due to excessively long cilia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340037	Congenital Abnormality	Young Syndrome	Malformations of organs or body parts during development in utero.	A rare respiratory disease characterized by recurrent sinopulmonary infections and bronchiectasis predominantly in the lower lung fields, as well as azoospermia with reduced fertility, due to production of thick, viscous mucus which causes mild airflow obstruction in the respiratory tract and obstruction of sperm trans...
C0000768	has_associated_morphology	C0340038	Congenital Abnormality	Ciliary Discoordination Due To Random Ciliary Orientation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340242	Congenital Abnormality	Congenital bronchomalacia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340614	Congenital Abnormality	Congenital aneurysm NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340626	Congenital Abnormality	Congenital brain aneurysm NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340627	Congenital Abnormality	Congenital coronary aneurysm	Malformations of organs or body parts during development in utero.	Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial in...
C0000768	has_associated_morphology	C0340794	Congenital Abnormality	Other specified cerebrovascular anomaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340795	Congenital Abnormality	Brain vascular anomalies	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340803	Congenital Abnormality	Capillary malformation (disorder)	Malformations of organs or body parts during development in utero.	A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). [PMID:22483320, P...
C0000768	has_associated_morphology	C0340804	Congenital Abnormality	Hereditary vascular fragility	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340808	Congenital Abnormality	Atresia of artery NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340809	Congenital Abnormality	Anomaly of artery NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340810	Congenital Abnormality	Hypoplasia of artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340814	Congenital Abnormality	Persistence of primitive artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340828	Congenital Abnormality	Capillary-venous malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340829	Congenital Abnormality	Venous-lymphatic malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340830	Congenital Abnormality	Capillary-venous-lymphatic malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340832	Congenital Abnormality	Truncal arteriovenous fistula	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340833	Congenital Abnormality	Diffuse arteriovenous fistula	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340834	Congenital Abnormality	Hennekam lymphangiectasia-lymphedema syndrome	Malformations of organs or body parts during development in utero.	A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics.
C0000768	has_associated_morphology	C0340836	Congenital Abnormality	Congenital arteriovenous fistula of brain	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340837	Congenital Abnormality	Congenital arteriovenous fistula occlusion	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340838	Congenital Abnormality	Congenital arteriovenous fistula stenosis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340839	Congenital Abnormality	Congenital arteriovenous fistula thrombosis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340840	Congenital Abnormality	Congenital arteriovenous fistula infection	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340841	Congenital Abnormality	Congenital arteriovenous fistula aneurysm	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340842	Congenital Abnormality	Congenital arteriovenous fistula hemorrhage	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340843	Congenital Abnormality	Congenital arteriovenous fistula rupture	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340844	Congenital Abnormality	Arteriovenous-lymphatic malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340845	Congenital Abnormality	Mixed vascular malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340846	Congenital Abnormality	Multiple dysplasia syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340847	Congenital Abnormality	Weber's true diffuse phlebarteriectasis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341034	Congenital Abnormality	Impacted molars	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341709	Congenital Abnormality	Congenital renal artery aneurysm	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341786	Congenital Abnormality	Congenital abnormality of scrotum	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341787	Congenital Abnormality	Bifid scrotum	Malformations of organs or body parts during development in utero.	Midline indentation or cleft of the scrotum. [https://orcid.org/0000-0002-0736-9199, PMID:23650202]
C0000768	has_associated_morphology	C0341793	Congenital Abnormality	Hypogonadism with prune belly syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341884	Congenital Abnormality	Bicornuate uterus in pregnancy, childbirth and the puerperium	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341907	Congenital Abnormality	Absent blood vessel in umbilical cord	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0342149	Congenital Abnormality	Congenital hypothyroidism with diffuse goiter	Malformations of organs or body parts during development in utero.	Evidence of congenital hypothyroidism with diffuse goiter.
C0000768	has_associated_morphology	C0342151	Congenital Abnormality	Congenital hypothyroidism without goiter	Malformations of organs or body parts during development in utero.	Evidence of congenital hypothyroidism without goiter.
C0000768	has_associated_morphology	C0342153	Congenital Abnormality	Congenital thyroid hypoplasia	Malformations of organs or body parts during development in utero.	Incomplete development of the thyroid gland in a newborn.
C0000768	has_associated_morphology	C0342154	Congenital Abnormality	Congenital atrophy of thyroid	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0342200	Congenital Abnormality	Endemic Cretinism	Malformations of organs or body parts during development in utero.	Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency.
C0000768	has_associated_morphology	C0342202	Congenital Abnormality	Congenital iodine deficiency syndrome of mixed type	Malformations of organs or body parts during development in utero.	Congenital iodine deficiency syndrome associated with overlapping features of both the neurological and myxedematous variants.
C0000768	has_associated_morphology	C0342203	Congenital Abnormality	Congenital iodine deficiency syndrome of neurological type	Malformations of organs or body parts during development in utero.	Congenital iodine deficiency syndrome associated with mental retardation, deaf-mutism, and abnormal gait. It results from severe maternal iodine deficiency and hypothyroidism during pregnancy.
C0000768	has_associated_morphology	C0342473	Congenital Abnormality	17 alpha-Hydroxyprogesterone aldolase deficiency	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0342474	Congenital Abnormality	Lipoid congenital adrenal hyperplasia	Malformations of organs or body parts during development in utero.	A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
C0000768	has_associated_morphology	C0343091	Congenital Abnormality	Oral lymphangioma	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344263	Congenital Abnormality	Posterior lenticonus	Malformations of organs or body parts during development in utero.	A conical projection of the posterior surface of the lens, occurring as a developmental anomaly. [https://orcid.org/0000-0001-8727-6592]
C0000768	has_associated_morphology	C0344464	Congenital Abnormality	Acephalothorax	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344466	Congenital Abnormality	Ullrich-Feichtiger	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344467	Congenital Abnormality	Biemond's syndrome	Malformations of organs or body parts during development in utero.	A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.
C0000768	has_associated_morphology	C0344505	Congenital Abnormality	Alacrima	Malformations of organs or body parts during development in utero.	Absence of tear secretion. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0344587	Congenital Abnormality	Hemicardia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344881	Congenital Abnormality	Tetralogy of Fallot with pulmonary stenosis	Malformations of organs or body parts during development in utero.	The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0344882	Congenital Abnormality	Tetralogy of Fallot with atresia of pulmonary valve	Malformations of organs or body parts during development in utero.	An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries. [https://orcid.org/0000-0001-5208-3432, PMID:22368654]
C0000768	has_associated_morphology	C0344883	Congenital Abnormality	Pentalogy of Fallot	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344884	Congenital Abnormality	Dextraposition of aorta in Fallot's tetralogy	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344885	Congenital Abnormality	Ventricular septal defect in Fallot's tetralogy	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345042	Congenital Abnormality	Intrapulmonary arteriovenous fistula	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345073	Congenital Abnormality	Aberrant retroesophageal brachiocephalic artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345105	Congenital Abnormality	Isolation of common carotid artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345145	Congenital Abnormality	Congenital stenosis of the anterior nares	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345146	Congenital Abnormality	Congenital atresia of posterior nares	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345147	Congenital Abnormality	Congenital atresia of anterior naris	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345153	Congenital Abnormality	Squashed or bent nose, congenital	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345163	Congenital Abnormality	Primary congenital bronchomalacia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345164	Congenital Abnormality	Secondary congenital bronchomalacia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345173	Congenital Abnormality	Congenital ranula	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345217	Congenital Abnormality	Exstrophy of cloaca sequence	Malformations of organs or body parts during development in utero.	A rare congenital malformation that affects the development of the urinary, digestive, and REPRODUCTIVE SYSTEMS due to CLOACA malformations. In this condition, the large intestine develops outside the abdominal cavity, with the bladder connected to it. Due to this abnormal connection between the colon and the bladder, ...
C0000768	has_associated_morphology	C0345291	Congenital Abnormality	Other specified anomalies of pancreas	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345292	Congenital Abnormality	Pancreatic duct anomaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345297	Congenital Abnormality	Congenital aplasia of round ligament	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345303	Congenital Abnormality	Embryonic cyst of broad ligament	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345306	Congenital Abnormality	Hypoplasia of uterus and cervix	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345308	Congenital Abnormality	Congenital uterovesical fistula	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345309	Congenital Abnormality	Hypoplasia of vagina	Malformations of organs or body parts during development in utero.	Developmental hypoplasia of the vagina. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0345313	Congenital Abnormality	Congenital fusion of labia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345314	Congenital Abnormality	Hooded clitoris	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345315	Congenital Abnormality	Duplication of clitoris	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345319	Congenital Abnormality	Cyst of hydatid of Morgagni	Malformations of organs or body parts during development in utero.	A cystic structure located between the ovary and fallopian tube.
C0000768	has_associated_morphology	C0345321	Congenital Abnormality	Hooded penis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345322	Congenital Abnormality	Diphallus	Malformations of organs or body parts during development in utero.	Two penile structures, separated from the tip to the base of the shaft. [https://orcid.org/0009-0006-4530-3154, PMID:23650202]
C0000768	has_associated_morphology	C0345325	Congenital Abnormality	Redundant prepuce	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345326	Congenital Abnormality	Congenital phimosis	Malformations of organs or body parts during development in utero.	Phimosis that is present since birth.
C0000768	has_associated_morphology	C0345347	Congenital Abnormality	Female hypospadias	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345418	Congenital Abnormality	Reticulate vascular nevus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345419	Congenital Abnormality	Cutis marmorata telangiectatica congenita	Malformations of organs or body parts during development in utero.	A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on th...
C0000768	has_associated_morphology	C0345439	Congenital Abnormality	Accessory pituitary gland	Malformations of organs or body parts during development in utero.	null

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