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	C0344946	Congenital Abnormality	Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0344967	Congenital Abnormality	Congenital fusion of pulmonic cusps	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345140	Congenital Abnormality	Totally absent pericardium	Malformations of organs or body parts during development in utero.	No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. [HPO_CONTRIBUTOR:DDD_dbrown]
C0000768	isa	C0345141	Congenital Abnormality	Pleuropericardial cyst	Malformations of organs or body parts during development in utero.	Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or...
C0000768	isa	C0345203	Congenital Abnormality	Congenital atresia of large intestine	Malformations of organs or body parts during development in utero.	A malformation characterized by the absence of a normal opening in a part of the large intestine.
C0000768	isa	C0345206	Congenital Abnormality	Congenital stenosis of colon	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345208	Congenital Abnormality	Congenital stenosis of appendix	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345226	Congenital Abnormality	Congenital fistula of anus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345256	Congenital Abnormality	Congenital intestinal adhesions	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345279	Congenital Abnormality	Congenital fistula of rectum and anus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345282	Congenital Abnormality	Congenital hypoplasia of gallbladder	Malformations of organs or body parts during development in utero.	The presence of a hypoplastic gallbladder. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0345307	Congenital Abnormality	Congenital uterointestinal fistula	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345344	Congenital Abnormality	Urachal fistula	Malformations of organs or body parts during development in utero.	Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus. [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
C0000768	isa	C0345375	Congenital Abnormality	Congenital hypoplasia of femur	Malformations of organs or body parts during development in utero.	An abnormal shortening of the femur. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0345393	Congenital Abnormality	Congenital absence of spine	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345397	Congenital Abnormality	Accessory rib	Malformations of organs or body parts during development in utero.	The presence of more than the usual or expected number of thoracic ribs.
C0000768	isa	C0345439	Congenital Abnormality	Accessory pituitary gland	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345440	Congenital Abnormality	Congenital absence of pituitary gland	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345443	Congenital Abnormality	Congenital malformation of anterior pituitary	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345444	Congenital Abnormality	Congenital malformation of posterior pituitary	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345447	Congenital Abnormality	Aberrant thyroid gland (disorder)	Malformations of organs or body parts during development in utero.	Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
C0000768	isa	C0345451	Congenital Abnormality	Aberrant parathyroid gland	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345454	Congenital Abnormality	Accessory thymic tissue	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0345465	Congenital Abnormality	Additional sex chromosome	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0346080	Congenital Abnormality	Cavernous lymphangioma of skin	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0392482	Congenital Abnormality	Common atrium	Malformations of organs or body parts during development in utero.	Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0392495	Congenital Abnormality	Congenital web of esophagus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0398368	Congenital Abnormality	Lymphatic Abnormalities	Malformations of organs or body parts during development in utero.	Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels.
C0000768	isa	C0398552	Congenital Abnormality	Congenital red cell hypoplasia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0398794	Congenital Abnormality	Hypopigmentation-immunodeficiency disease	Malformations of organs or body parts during development in utero.	Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3).
C0000768	isa	C0399352	Congenital Abnormality	Developmental absence of tooth	Malformations of organs or body parts during development in utero.	An extreme developmental dental anomaly characterized by the complete absence of all teeth.
C0000768	isa	C0399373	Congenital Abnormality	Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0404625	Congenital Abnormality	Fetus with central nervous system malformation unspecified	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0405582	Congenital Abnormality	Absent testicle (congenital)	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0406740	Congenital Abnormality	Kohlschutter Tonz syndrome	Malformations of organs or body parts during development in utero.	Amelogenesis imperfecta, intellectual disability, and epileptic seizures.
C0000768	isa	C0410528	Congenital Abnormality	Skeletal dysplasia	Malformations of organs or body parts during development in utero.	A general term describing features characterized by abnormal development of bones and connective tissues. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0425885	Congenital Abnormality	Uterine cervix double	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0426799	Congenital Abnormality	Congenital hypoplasia of clavicle	Malformations of organs or body parts during development in utero.	Reduced length of the clavicles. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0429531	Congenital Abnormality	Congenital malformation of angle of anterior chamber of eye	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431280	Congenital Abnormality	Congenital malformation syndromes with metabolic disturbances	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431341	Congenital Abnormality	Cervical hydromyelocele	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431355	Congenital Abnormality	Hydrocephalus associated with congenital aqueduct stenosis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431366	Congenital Abnormality	Congenital malformation of corpus callosum	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431371	Congenital Abnormality	Absence of septum pellucidum	Malformations of organs or body parts during development in utero.	Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosu...
C0000768	isa	C0431402	Congenital Abnormality	Absence of the vermis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431404	Congenital Abnormality	Cerebellar cortical dysplasia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431421	Congenital Abnormality	Congenital malformation of the meninges	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431426	Congenital Abnormality	Congenital adhesions of cerebral meninges	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431428	Congenital Abnormality	Agenesis of cerebrum	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431438	Congenital Abnormality	Congenital malformation of eye, ear and neck	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431446	Congenital Abnormality	Congenital malformation of the eyebrow	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431551	Congenital Abnormality	Congenital malformation of tongue, mouth and pharynx	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431557	Congenital Abnormality	Flat palate	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431560	Congenital Abnormality	Congenital cleft tongue	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431566	Congenital Abnormality	Congenital malformation of salivary glands and ducts	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431582	Congenital Abnormality	Congenital dilation of bile duct	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431583	Congenital Abnormality	Congenital diverticulum of bile duct	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431609	Congenital Abnormality	Congenital malformation of anterior abdominal wall	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431637	Congenital Abnormality	Mullerian aplasia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431650	Congenital Abnormality	Congenital urethrovaginal fistula	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431757	Congenital Abnormality	Congenital gastrointestinal-urinary tract fistula	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431788	Congenital Abnormality	Aberrant muscle of the upper limb	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431794	Congenital Abnormality	Congenital ankylosis of elbow	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0431863	Congenital Abnormality	Carpal synostosis	Malformations of organs or body parts during development in utero.	Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0431981	Congenital Abnormality	Aberrant muscle of the lower limb	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0432045	Congenital Abnormality	Perodactylia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0432144	Congenital Abnormality	Congenital lordosis due to bony malformation	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0432174	Congenital Abnormality	Congenital abnormal shape of rib	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0432176	Congenital Abnormality	Congenital malformation of sternum	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0432186	Congenital Abnormality	Congenital absence of tendon	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0432425	Congenital Abnormality	Trisomy 13, meiotic nondisjunction	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0432426	Congenital Abnormality	Trisomy 13 - mitotic nondisjunction mosaicism	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0439002	Congenital Abnormality	Congenital absence of muscle AND/OR tendon	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0452132	Congenital Abnormality	congenital malformation syndromes due to known exogenous causes	Malformations of organs or body parts during development in utero.	A syndrome characterized by the presence of structural malformations that are present at birth and can be attributed to an exogenous cause.
C0000768	isa	C0456162	Congenital Abnormality	Embryological remnant	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0472503	Congenital Abnormality	Congenital malformation of vitreous humor	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0474870	Congenital Abnormality	Congenital esophageal fistula	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0474872	Congenital Abnormality	Congenital broncho-esophageal fistula without atresia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0478094	Congenital Abnormality	Other specified congenital malformation syndromes, NEC in SNOMED CT	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0478095	Congenital Abnormality	Other specified congenital malformations	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0520554	Congenital Abnormality	Chondrodystrophy malacia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0520556	Congenital Abnormality	Pilonidal cyst without mention of abscess	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0521564	Congenital Abnormality	Congenital hypoplasia of choroid	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0521567	Congenital Abnormality	Geographic retinal dysplasia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0521572	Congenital Abnormality	Macropalpebral fissure	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0521573	Congenital Abnormality	Cleft eyelid	Malformations of organs or body parts during development in utero.	A short discontinuity of the margin of the lower or upper eyelid. [PMID:19125427]
C0000768	isa	C0521574	Congenital Abnormality	Ectopic cilia of eyelid	Malformations of organs or body parts during development in utero.	An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid. [HPO_CONTRIBUTOR:GOC_MG, http://www.eyecareforanimals.com/animal-eye-conditions/general/251-distichiasis-trichiasis-ectopic-cilia.html]
C0000768	isa	C0521577	Congenital Abnormality	Congenital diverticulum of lacrimal canaliculus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0542519	Congenital Abnormality	Congenital absence of kidney	Malformations of organs or body parts during development in utero.	A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).
C0000768	isa	C0544857	Congenital Abnormality	Bifid nail	Malformations of organs or body parts during development in utero.	A digit with two nails, with at least some soft tissue between them. [PMID:19125433]
C0000768	isa	C0545617	Congenital Abnormality	Supernumerary metacarpal bone	Malformations of organs or body parts during development in utero.	The presence of more than the normal number of metacarpal bones. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0546965	Congenital Abnormality	Parachute malformation of mitral valve	Malformations of organs or body parts during development in utero.	Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. [HPO_CONTRIBUTOR:DDD_dbrown]
C0000768	isa	C0546968	Congenital Abnormality	Fistula of branchial cleft	Malformations of organs or body parts during development in utero.	A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. [https://orcid.org/0009-0006-4530-3154]
C0000768	isa	C0553758	Congenital Abnormality	Congenital agenesis of brainstem nuclei	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0555211	Congenital Abnormality	Supernumerary pulmonary valve cusps	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0559905	Congenital Abnormality	Congenital abnormality of oral cavity	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0564853	Congenital Abnormality	Congenital lordosis/scoliosis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0587371	Congenital Abnormality	Congenital deformity of scapula	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0596028	Congenital Abnormality	Overjet, Dental	Malformations of organs or body parts during development in utero.	A malocclusion of the teeth in which maxillary incisor and canine teeth project over the mandiblar teeth. The overlap is measured parallel to the occlusal plane and therefore is called horizontal overlap.
C0000768	isa	C0600031	Congenital Abnormality	Congenital absence of spleen	Malformations of organs or body parts during development in utero.	null

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