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	C0345440	Congenital Abnormality	Congenital absence of pituitary gland	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345443	Congenital Abnormality	Congenital malformation of anterior pituitary	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0345444	Congenital Abnormality	Congenital malformation of posterior pituitary	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0346068	Congenital Abnormality	Cobb's syndrome	Malformations of organs or body parts during development in utero.	Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16%...
C0000768	has_associated_morphology	C0346074	Congenital Abnormality	Verrucous hemangioma of skin	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0347915	Congenital Abnormality	Congenital malformation syndromes associated with short stature	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0348023	Congenital Abnormality	Spinal arteriovenous malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0348887	Congenital Abnormality	Arteriovenous malformation of precerebral vessels	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0349589	Congenital Abnormality	Ruptured spinal arteriovenous malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0376319	Congenital Abnormality	Congenital Epulides	Malformations of organs or body parts during development in utero.	A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative.
C0000768	has_associated_morphology	C0392005	Congenital Abnormality	Bilateral cleft lip	Malformations of organs or body parts during development in utero.	A non-midline cleft of the upper lip on the left and right sides. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0392006	Congenital Abnormality	Unilateral cleft lip	Malformations of organs or body parts during development in utero.	A non-midline cleft of the upper lip on one side only. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0392475	Congenital Abnormality	Roberts-SC phocomelia syndrome	Malformations of organs or body parts during development in utero.	Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.
C0000768	has_associated_morphology	C0392483	Congenital Abnormality	Embedded teeth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0392485	Congenital Abnormality	Congenital diverticulum of pharynx	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0392495	Congenital Abnormality	Congenital web of esophagus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	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	has_associated_morphology	C0399353	Congenital Abnormality	Conical supernumerary tooth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399354	Congenital Abnormality	Tuberculate supernumerary tooth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399356	Congenital Abnormality	Supernumerary cusp of tooth	Malformations of organs or body parts during development in utero.	Additional cusps of a dental crown. [PMID:31468724]
C0000768	has_associated_morphology	C0399357	Congenital Abnormality	Talon cusp	Malformations of organs or body parts during development in utero.	Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). [https://orcid.org/0000-0002-9338-3017]
C0000768	has_associated_morphology	C0399373	Congenital Abnormality	Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399378	Congenital Abnormality	Dentinogenesis imperfecta - Shield's type III (disorder)	Malformations of organs or body parts during development in utero.	Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrop...
C0000768	has_associated_morphology	C0399379	Congenital Abnormality	Dentin dysplasia, type 1	Malformations of organs or body parts during development in utero.	Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.
C0000768	has_associated_morphology	C0399380	Congenital Abnormality	Dentin dyspalsia, Shields type 2	Malformations of organs or body parts during development in utero.	Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.
C0000768	has_associated_morphology	C0399385	Congenital Abnormality	Early tooth exfoliation	Malformations of organs or body parts during development in utero.	Loss of the primary (also known as deciduous) teeth before the usual age. [https://orcid.org/0009-0006-4530-3154]
C0000768	has_associated_morphology	C0399386	Congenital Abnormality	Early tooth exfoliation due to systemic disease	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399530	Congenital Abnormality	Class II buccal segment relationship - half unit	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399531	Congenital Abnormality	Class III buccal segment relationship - half unit	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399532	Congenital Abnormality	Midline deviation of dental arch	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399533	Congenital Abnormality	Lateral openbite	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399534	Congenital Abnormality	Lateral openbite - right	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399535	Congenital Abnormality	Lateral openbite - left	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399538	Congenital Abnormality	Traumatic overbite	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399539	Congenital Abnormality	Overbite traumatic to palate	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399540	Congenital Abnormality	Overbite traumatic to labial mucosa	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399542	Congenital Abnormality	Posterior imbrication of teeth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399543	Congenital Abnormality	Anterior imbrication of teeth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399544	Congenital Abnormality	Spacing of anterior teeth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399545	Congenital Abnormality	Anterior Diastema of Teeth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399546	Congenital Abnormality	Spacing of posterior teeth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399547	Congenital Abnormality	Embedded and impacted teeth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399548	Congenital Abnormality	Impacted premolars	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399549	Congenital Abnormality	Impacted incisors	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399550	Congenital Abnormality	Impacted permanent canine tooth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399551	Congenital Abnormality	Impacted third molar tooth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0399606	Congenital Abnormality	Midline sinus of the upper lip	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0400143	Congenital Abnormality	Removal of colorectal septum	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0400200	Congenital Abnormality	Correction of congenital anorectal malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0400201	Congenital Abnormality	Reanastomosis of rectum to anal canal for correction of congenital atresia of rectum	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0400202	Congenital Abnormality	Abdominosacroperineal pull-through	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0400203	Congenital Abnormality	Rehbein procedure	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0400204	Congenital Abnormality	Sacroperineal pull-through	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0400206	Congenital Abnormality	Posterior sagittal anorectoplasty	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0400207	Congenital Abnormality	Transposition of tissue of anus	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0400208	Congenital Abnormality	V-Y anoplasty	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0400209	Congenital Abnormality	Cutback of covered anus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0401110	Congenital Abnormality	Congenital umbilical defect	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0401690	Congenital Abnormality	Male epispadias repair	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0401694	Congenital Abnormality	Single stage epispadias repair	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0401695	Congenital Abnormality	First stage of two-stage epispadias repair	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0401696	Congenital Abnormality	Second stage of two-stage epispadias repair	Malformations of organs or body parts during development in utero.	null
C0000768	has_direct_morphology	C0401697	Congenital Abnormality	Revision of male epispadias repair	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0403551	Congenital Abnormality	Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0403555	Congenital Abnormality	Ochoa syndrome	Malformations of organs or body parts during development in utero.	A rare syndromic urinary tract malformation characterized by the association of severe voiding dysfunction and inversion of facial expression when the child smiles or cries.
C0000768	has_associated_morphology	C0403773	Congenital Abnormality	Congenital familial idiopathic priapism	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404623	Congenital Abnormality	fetal central nervous system abnormality affecting care of mother as antepartum condition	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404624	Congenital Abnormality	Fetus with central nervous system malformation - delivered	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404625	Congenital Abnormality	Fetus with central nervous system malformation unspecified	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404628	Congenital Abnormality	Suspect fetal anencephaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404713	Congenital Abnormality	Congenital abnormality of uterus affecting obstetric care	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404715	Congenital Abnormality	Bicornuate uterus in pregnancy, childbirth or puerperium NOS	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404716	Congenital Abnormality	Congenital abnormality of uterus complicating postpartum care - baby delivered during previous episode of care	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404717	Congenital Abnormality	Bicornuate uterus complicating postpartum care - baby delivered during previous episode of care	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404718	Congenital Abnormality	congenital uterine abnormality as antepartum condition	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404719	Congenital Abnormality	bicornuate uterus in pregnancy as antepartum condition	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404720	Congenital Abnormality	Congenital abnormality of uterus - baby delivered with postpartum complication	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404721	Congenital Abnormality	Bicornuate uterus - baby delivered with postpartum complication	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404722	Congenital Abnormality	congenital uterine abnormality with baby delivered	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404723	Congenital Abnormality	bicornuate uterus in pregnancy with baby delivered	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0404724	Congenital Abnormality	Bicornuate uterus affecting obstetric care	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0406709	Congenital Abnormality	Hay-Wells syndrome	Malformations of organs or body parts during development in utero.	An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
C0000768	has_associated_morphology	C0406716	Congenital Abnormality	Hypodontia and nail dysgenesis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0406726	Congenital Abnormality	Orofaciodigital syndrome 3	Malformations of organs or body parts during development in utero.	A syndrome of eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula, postaxial hexadactyly, pectus excavatum, short sternum, kyphosis, mental retardation, and ceaseless ("see-saw") winking of the eyelids occurring in one of the two sisters in the original report.
C0000768	has_associated_morphology	C0406727	Congenital Abnormality	Orofaciodigital syndrome 4	Malformations of organs or body parts during development in utero.	Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.
C0000768	has_associated_morphology	C0410538	Congenital Abnormality	Pseudoachondroplasia	Malformations of organs or body parts during development in utero.	A rare, autosomal dominant inherited disorder caused by mutations in the COMP gene. It is characterized by short stature, short arms and legs, waddling walk, osteoarthritis, and limited range of motion at the elbows and hips.
C0000768	has_associated_morphology	C0423405	Congenital Abnormality	Retinal arteriovenous dilatation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0423406	Congenital Abnormality	Retinal arteriovenous shunt	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0429531	Congenital Abnormality	Congenital malformation of angle of anterior chamber of eye	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0431280	Congenital Abnormality	Congenital malformation syndromes with metabolic disturbances	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0431281	Congenital Abnormality	Single monster, specified type	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0431285	Congenital Abnormality	Iniencephaly - open	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0431286	Congenital Abnormality	Iniencephaly - closed	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0431362	Congenital Abnormality	Lobar Holoprosencephaly	Malformations of organs or body parts during development in utero.	A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partia...
C0000768	has_associated_morphology	C0431363	Congenital Abnormality	Alobar Holoprosencephaly	Malformations of organs or body parts during development in utero.	A severe form of holoprosencephaly characterized by a single brain ventricle and no interhemispheric fissure. Severe craniofacial features may manifest as cyclopia, ethmocephaly or cebocephaly.
C0000768	has_associated_morphology	C0431366	Congenital Abnormality	Congenital malformation of corpus callosum	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0431370	Congenital Abnormality	Atrophy of corpus callosum	Malformations of organs or body parts during development in utero.	The presence of atrophy (wasting) of the corpus callosum. [https://orcid.org/0009-0006-4530-3154]
C0000768	has_associated_morphology	C0431406	Congenital Abnormality	Cayler cardiofacial syndrome	Malformations of organs or body parts during development in utero.	The presence of congenital unilateral hypoplasia of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy. May present as an isolated clinical finding however when it is present in conjunction with other congenital malformations the disorder is referred to as syndrome.
C0000768	has_associated_morphology	C0431414	Congenital Abnormality	Sacral dysgenesis	Malformations of organs or body parts during development in utero.	A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally. []
C0000768	has_associated_morphology	C0431415	Congenital Abnormality	Lumbosacral agenesis	Malformations of organs or body parts during development in utero.	null

Subsets and Splits

No community queries yet

The top public SQL queries from the community will appear here once available.