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	C0266436	Congenital Abnormality	Congenital chordee	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266437	Congenital Abnormality	Congenital lateral curvature of penis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266442	Congenital Abnormality	Congenital absence of spermatic cord	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266444	Congenital Abnormality	Congenital absence of vas deferens	Malformations of organs or body parts during development in utero.	Aplasia (congenital absence) of the vas deferens. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0266445	Congenital Abnormality	Congenital atresia of vas deferens	Malformations of organs or body parts during development in utero.	Abnormal closure or blockage of the vas deferens. []
C0000768	has_associated_morphology	C0266446	Congenital Abnormality	Congenital atresia of ejaculatory duct	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266449	Congenital Abnormality	Congenital anomaly of brain	Malformations of organs or body parts during development in utero.	<p>Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's a genetic problem. In other cases, exposure to certain <a href="https://medlineplus.gov/pregnancyandmedicines.html">medicines</a>, <a href="https://medlineplus...
C0000768	has_associated_morphology	C0266451	Congenital Abnormality	Cerebral cortical dysgenesis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266453	Congenital Abnormality	Exencephaly	Malformations of organs or body parts during development in utero.	A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium. [https://orcid.org/0000-0002-0003-6754, PMID:21887200]
C0000768	has_associated_morphology	C0266455	Congenital Abnormality	Encephalocystocele	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266456	Congenital Abnormality	Meningoencephalocele	Malformations of organs or body parts during development in utero.	A congenital neural tube closure defect resulting in the protrusion of the brain and meninges through a skull opening.
C0000768	has_associated_morphology	C0266459	Congenital Abnormality	Cranial hydromeningocele	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266460	Congenital Abnormality	Hydromicrocephaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266462	Congenital Abnormality	Congenital hypoplasia of part of brain	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266463	Congenital Abnormality	Lissencephaly	Malformations of organs or body parts during development in utero.	A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of co...
C0000768	has_associated_morphology	C0266468	Congenital Abnormality	Congenital pontocerebellar hypoplasia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266469	Congenital Abnormality	Aplasia of cerebellum	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266472	Congenital Abnormality	Cerebellar hemangioblastomatosis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266473	Congenital Abnormality	Congenital leptomeningeal angiomatosis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266474	Congenital Abnormality	Aqueduct of Sylvius anomaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266475	Congenital Abnormality	Congenital obstruction of aqueduct of Sylvius	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266476	Congenital Abnormality	Congenital stenosis of aqueduct of Sylvius	Malformations of organs or body parts during development in utero.	Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0266477	Congenital Abnormality	Congenital atresia of foramen of Magendie	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266478	Congenital Abnormality	Congenital atresia of foramen of Luschka	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266480	Congenital Abnormality	Congenital cerebral cyst	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266481	Congenital Abnormality	Colloid cysts of third ventricle	Malformations of organs or body parts during development in utero.	An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydroce...
C0000768	has_associated_morphology	C0266483	Congenital Abnormality	Pachygyria	Malformations of organs or body parts during development in utero.	Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. [http://www.wikidata.org/entity/Q90573458, https://orci...
C0000768	has_associated_morphology	C0266484	Congenital Abnormality	Schizencephaly	Malformations of organs or body parts during development in utero.	Cortical malformations characterized by grey matter-lined cleft or cyst that extends from the EPENDYMA often to the PIA MATER outer surface. The grey matter that lines the cleft is often POLYMICROGYRIA. It is associated with developmental delay, motor disturbance and seizures.
C0000768	has_associated_morphology	C0266485	Congenital Abnormality	Congenital pseudoporencephaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266486	Congenital Abnormality	Congenital ischemic atrophy of central nervous system structure	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266487	Congenital Abnormality	Etat Marbre	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266488	Congenital Abnormality	Ulegyria	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266490	Congenital Abnormality	Nasal glial heterotopia	Malformations of organs or body parts during development in utero.	Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no commun...
C0000768	has_associated_morphology	C0266491	Congenital Abnormality	Neuronal heterotopia	Malformations of organs or body parts during development in utero.	The presence of neuronal cells in an atypical anatomic site.
C0000768	has_associated_morphology	C0266492	Congenital Abnormality	Ectopic gray matter in centrum ovale	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266493	Congenital Abnormality	Ecchordosis physaliphora	Malformations of organs or body parts during development in utero.	A very rare, slow growing, usually asymptomatic hamartomatous lesion that arises from ectopic notochordal tissue. Morphologically it is characterized by the presence of typical physaliphorous cells in a myxoid background.
C0000768	has_associated_morphology	C0266494	Congenital Abnormality	Sinus Pericranii	Malformations of organs or body parts during development in utero.	Rare vascular anomaly involving a communication between the intracranial and extracranial venous circulation via diploe, the central spongy layer of cranial bone. It is often characterized by dilated venous structures on the scalp due to abnormal drainage from the intracranial venous sinuses. Sinus pericranii can be co...
C0000768	has_associated_morphology	C0266496	Congenital Abnormality	Encephalo-ophthalmic dysplasia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266497	Congenital Abnormality	Dyke-Davidoff-Masson syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266498	Congenital Abnormality	Congenital anomaly of spinal cord	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266499	Congenital Abnormality	Spinal cord dysplasia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266500	Congenital Abnormality	Spina bifida without hydrocephalus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266501	Congenital Abnormality	Spina bifida of cervical region	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266502	Congenital Abnormality	Thoracic spina bifida	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266503	Congenital Abnormality	Spina bifida of lumbar region	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266506	Congenital Abnormality	Congenital spinal hydromeningocele	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266507	Congenital Abnormality	Myeloschisis	Malformations of organs or body parts during development in utero.	A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically a...
C0000768	has_associated_morphology	C0266508	Congenital Abnormality	Rachischisis	Malformations of organs or body parts during development in utero.	Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed.
C0000768	has_associated_morphology	C0266509	Congenital Abnormality	Faun tail syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266510	Congenital Abnormality	Amyelia	Malformations of organs or body parts during development in utero.	A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and ...
C0000768	has_associated_morphology	C0266511	Congenital Abnormality	Spinal cord hypoplasia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266512	Congenital Abnormality	Hemimyelia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266513	Congenital Abnormality	development; defective, congenital, cauda equina	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266515	Congenital Abnormality	Congenital anomaly of spinal meninges	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266516	Congenital Abnormality	Congenital anomaly of the peripheral nervous system	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266517	Congenital Abnormality	Congenital anomaly of peripheral nerve	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266518	Congenital Abnormality	Agenesis of nerve	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266523	Congenital Abnormality	Hypomyelinogenesis congenita	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266526	Congenital Abnormality	Norrie disease	Malformations of organs or body parts during development in utero.	A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
C0000768	has_associated_morphology	C0266532	Congenital Abnormality	Congenital keratoconus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266533	Congenital Abnormality	Congenital keratoconus posticus circumscriptus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266543	Congenital Abnormality	Persistent tunica vasculosa lentis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266545	Congenital Abnormality	Congenital corneal opacity not interfering with vision	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266546	Congenital Abnormality	Congenital anomaly of anterior chamber of eye	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266547	Congenital Abnormality	Anterior chamber cleavage syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266548	Congenital Abnormality	Axenfeld anomaly (disorder)	Malformations of organs or body parts during development in utero.	A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.
C0000768	has_associated_morphology	C0266549	Congenital Abnormality	Congenital anisocoria	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266550	Congenital Abnormality	Atresia of pupil	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266554	Congenital Abnormality	Congenital anomaly of sclera	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266555	Congenital Abnormality	Congenital melanosis of sclera	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266559	Congenital Abnormality	Persistent primary vitreous	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266561	Congenital Abnormality	Congenital cyst of posterior segment of eye	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266562	Congenital Abnormality	Retinal hemangioblastomatosis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266563	Congenital Abnormality	Congenital anomaly of macula	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266564	Congenital Abnormality	Congenital anomaly of retina	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266565	Congenital Abnormality	Albinotic fundus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266566	Congenital Abnormality	Optic disc structural anomaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266568	Congenital Abnormality	Persistent Hyperplastic Primary Vitreous	Malformations of organs or body parts during development in utero.	A developmental ocular anomaly in which the primary VITREOUS BODY and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by CATARACT; MICROPHTHALMOS (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)
C0000768	has_associated_morphology	C0266570	Congenital Abnormality	Congenital vascular anomaly of eye	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266571	Congenital Abnormality	Congenital retinal aneurysm	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266572	Congenital Abnormality	Congenital structural abnormality of eyelid	Malformations of organs or body parts during development in utero.	The abnormal formation of the eyelid that is present at the time of birth.
C0000768	has_associated_morphology	C0266573	Congenital Abnormality	Congenital ptosis	Malformations of organs or body parts during development in utero.	The drooping of the upper or lower eyelid that is present at the time of birth.
C0000768	has_associated_morphology	C0266574	Congenital Abnormality	Ablepharon	Malformations of organs or body parts during development in utero.	Absent eyelids. [PMID:19125427]
C0000768	has_associated_morphology	C0266575	Congenital Abnormality	Partial ablepharon	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266576	Congenital Abnormality	Accessory eyelid	Malformations of organs or body parts during development in utero.	The presence of more than the normal number of eyelids. [HPO_CONTRIBUTOR:GOC_MG]
C0000768	has_associated_morphology	C0266577	Congenital Abnormality	Congenital epiblepharon-inferior oblique syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266578	Congenital Abnormality	Congenital ectropion	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266579	Congenital Abnormality	Congenital entropion	Malformations of organs or body parts during development in utero.	A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation...
C0000768	has_associated_morphology	C0266580	Congenital Abnormality	Congenital absence of eyelash	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266581	Congenital Abnormality	Congenital anomaly of lacrimal system	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266585	Congenital Abnormality	Accessory lacrimal canal	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266587	Congenital Abnormality	Congenital structural abnormality of orbit	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266588	Congenital Abnormality	Multiple supernumerary eye muscles	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266590	Congenital Abnormality	Congenital absence of ear	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266591	Congenital Abnormality	Pleonotia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266592	Congenital Abnormality	Congenital anomaly of ear with impairment of hearing	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266599	Congenital Abnormality	Congenital anomaly of middle ear	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266600	Congenital Abnormality	Congenital atresia of osseous meatus of middle ear	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266605	Congenital Abnormality	Congenital anomaly of membranous labyrinth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266608	Congenital Abnormality	Congenital anomaly of organ of Corti	Malformations of organs or body parts during development in utero.	null

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