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	C0266472	Congenital Abnormality	Cerebellar hemangioblastomatosis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	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	isa	C0266477	Congenital Abnormality	Congenital atresia of foramen of Magendie	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266478	Congenital Abnormality	Congenital atresia of foramen of Luschka	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266480	Congenital Abnormality	Congenital cerebral cyst	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266486	Congenital Abnormality	Congenital ischemic atrophy of central nervous system structure	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266489	Congenital Abnormality	Ectopic glial tissue	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266492	Congenital Abnormality	Ectopic gray matter in centrum ovale	Malformations of organs or body parts during development in utero.	null
C0000768	isa	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	isa	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	isa	C0266495	Congenital Abnormality	Dural arteriovenous malformation	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266506	Congenital Abnormality	Congenital spinal hydromeningocele	Malformations of organs or body parts during development in utero.	null
C0000768	isa	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	isa	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	isa	C0266512	Congenital Abnormality	Hemimyelia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266514	Congenital Abnormality	Myelatelia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266518	Congenital Abnormality	Agenesis of nerve	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266522	Congenital Abnormality	Aganglionosis of parasympathetic nerve ganglia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266524	Congenital Abnormality	Dysplasia of eye	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266527	Congenital Abnormality	Hypoplasia of eye	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266533	Congenital Abnormality	Congenital keratoconus posticus circumscriptus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266550	Congenital Abnormality	Atresia of pupil	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266560	Congenital Abnormality	Congenital fold of posterior segment of eye	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266562	Congenital Abnormality	Retinal hemangioblastomatosis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266570	Congenital Abnormality	Congenital vascular anomaly of eye	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266574	Congenital Abnormality	Ablepharon	Malformations of organs or body parts during development in utero.	Absent eyelids. [PMID:19125427]
C0000768	isa	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	isa	C0266580	Congenital Abnormality	Congenital absence of eyelash	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266582	Congenital Abnormality	Congenital absence of lacrimal drainage structure	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266583	Congenital Abnormality	Congenital anomaly of lacrimal gland	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266585	Congenital Abnormality	Accessory lacrimal canal	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266589	Congenital Abnormality	Congenital ear anomaly NOS (disorder)	Malformations of organs or body parts during development in utero.	An abnormality of the ear. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0266590	Congenital Abnormality	Congenital absence of ear	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266591	Congenital Abnormality	Pleonotia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266594	Congenital Abnormality	Congenital absence of auricle with atresia of auditory canal	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266596	Congenital Abnormality	Congenital stricture of external auditory canal	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266597	Congenital Abnormality	Congenital atresia of external auditory canal	Malformations of organs or body parts during development in utero.	A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, ...
C0000768	isa	C0266598	Congenital Abnormality	Double auditory canal	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266600	Congenital Abnormality	Congenital atresia of osseous meatus of middle ear	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266601	Congenital Abnormality	Congenital stricture of osseous meatus of middle ear	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266602	Congenital Abnormality	Congenital fusion of ossicles of ear	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266607	Congenital Abnormality	Incomplete development of membranous labyrinth	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266609	Congenital Abnormality	Accessory tragus	Malformations of organs or body parts during development in utero.	Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. [eom:095679c21044c851]
C0000768	isa	C0266611	Congenital Abnormality	Accessory auricle of ear	Malformations of organs or body parts during development in utero.	The presence of an extra auricle on one or both sides of the head. [https://orcid.org/0009-0006-4530-3154]
C0000768	isa	C0266625	Congenital Abnormality	Congenital preauricular sinus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266626	Congenital Abnormality	Congenital aural fistula	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266627	Congenital Abnormality	Congenital cervicoaural fistula	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266631	Congenital Abnormality	Accessory spleen	Malformations of organs or body parts during development in utero.	An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0266632	Congenital Abnormality	Ectopic spleen	Malformations of organs or body parts during development in utero.	An abnormal (non-anatomic) location of the spleen. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0266635	Congenital Abnormality	Congenital lobulation of spleen	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266636	Congenital Abnormality	Splenogonadal fusion	Malformations of organs or body parts during development in utero.	A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ecto...
C0000768	isa	C0266638	Congenital Abnormality	Ectopic thymic tissue	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266642	Congenital Abnormality	Situs ambiguus	Malformations of organs or body parts during development in utero.	Congenital deformity in which the internal organs of the THORAX and the ABDOMEN are abnormally arranged across the mediolateral body axis.
C0000768	isa	C0266662	Congenital Abnormality	Abnormal fetal duplication	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266672	Congenital Abnormality	Amyelencephalus	Malformations of organs or body parts during development in utero.	Congenital absence of the spinal cord and brain
C0000768	isa	C0266685	Congenital Abnormality	double; monster	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0266717	Congenital Abnormality	Acardius	Malformations of organs or body parts during development in utero.	A severe form of twin-twin transfusion syndrome that occurs in monochorionic pregnancies. The normal twin (pump twin) supplies the blood flow to its sibling that lacks heart or brain or both (acardiac/acephalic twin). Untreated, it may lead to the demise of the pump twin in some cases.
C0000768	isa	C0266792	Congenital Abnormality	Vascular anomaly of umbilical cord	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0267079	Congenital Abnormality	Upper esophageal web	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0268371	Congenital Abnormality	Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0268373	Congenital Abnormality	Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0269765	Congenital Abnormality	Central nervous system malformation in fetus affecting obstetrical care	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0271097	Congenital Abnormality	Usher Syndrome	Malformations of organs or body parts during development in utero.	Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction a...
C0000768	isa	C0271135	Congenital Abnormality	Ectopic pupil	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0271859	Congenital Abnormality	Ectopic hyperparathyroidism	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0272279	Congenital Abnormality	Amegakaryocytic thrombocytopenia with congenital malformation	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0282160	Congenital Abnormality	Aplasia Cutis Congenita	Malformations of organs or body parts during development in utero.	Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation.
C0000768	isa	C0302356	Congenital Abnormality	Incomplete Anencephaly	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0302889	Congenital Abnormality	Ectopic testis	Malformations of organs or body parts during development in utero.	Localization of the testis in an anatomic location other than the scrotum. [PMID:31211064]
C0000768	isa	C0302892	Congenital Abnormality	Congenital porencephaly	Malformations of organs or body parts during development in utero.	A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystoni...
C0000768	isa	C0311242	Congenital Abnormality	Gingival odontogenic cyst	Malformations of organs or body parts during development in utero.	An odontogenic cyst found in the alveolar mucosa. (WHO 2017)
C0000768	isa	C0332890	Congenital Abnormality	Congenital hemihypertrophy	Malformations of organs or body parts during development in utero.	Overgrowth of only one side of the body. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	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	isa	C0344464	Congenital Abnormality	Acephalothorax	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344479	Congenital Abnormality	Spinal Cord Myelodysplasia	Malformations of organs or body parts during development in utero.	A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0344488	Congenital Abnormality	Agenesis of cerebellum	Malformations of organs or body parts during development in utero.	A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, d...
C0000768	isa	C0344490	Congenital Abnormality	Sacral agenesis	Malformations of organs or body parts during development in utero.	Absence (aplasia) of the sacrum. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0344509	Congenital Abnormality	Agenesis of punctum lacrimale	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344511	Congenital Abnormality	Atresia of nasolacrimal duct	Malformations of organs or body parts during development in utero.	A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0344512	Congenital Abnormality	Congenital stenosis of nasolacrimal duct	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344514	Congenital Abnormality	Congenital lacrimal fistula	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344529	Congenital Abnormality	Cornea plana	Malformations of organs or body parts during development in utero.	A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may prese...
C0000768	isa	C0344551	Congenital Abnormality	Congenital retinoschisis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344570	Congenital Abnormality	Congenital absence of chin	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344580	Congenital Abnormality	Acardia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344583	Congenital Abnormality	Cor triloculare	Malformations of organs or body parts during development in utero.	A congenital anatomic anomaly in which the heart has only three chambers.
C0000768	isa	C0344585	Congenital Abnormality	Congenital aneurysm of heart	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344587	Congenital Abnormality	Hemicardia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344593	Congenital Abnormality	Congenital insufficiency of heart valve NEC	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344594	Congenital Abnormality	Congenital hypoplasia of heart	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344748	Congenital Abnormality	Accessory tissue on tricuspid leaflet	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344757	Congenital Abnormality	Fused tricuspid papillary muscle	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344760	Congenital Abnormality	Congenital atresia of mitral valve	Malformations of organs or body parts during development in utero.	A rare congenital non-syndromic heart malformation characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a dominant right ventricle via a tricuspid valve, and a hypoplastic left ventricle. Morphologic heterogeneity is considerable, and hemodynami...
C0000768	isa	C0344781	Congenital Abnormality	Fused mitral papillary muscles	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344783	Congenital Abnormality	Atrioventricular septal defect and common atrioventricular junction	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344796	Congenital Abnormality	Double outlet left atrium	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344824	Congenital Abnormality	Abnormality of right atrioventricular valve in double inlet ventricle	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344885	Congenital Abnormality	Ventricular septal defect in Fallot's tetralogy	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344896	Congenital Abnormality	Congenital right ventricular diverticulum	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344903	Congenital Abnormality	Right ventricular outflow tract atresia	Malformations of organs or body parts during development in utero.	null

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