Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Endocardial cushion defect |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
connexion ventriculoartérielle anormale |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Single ventricular outlet above both ventricles (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Right sided atrium connecting to ventricle of indeterminate morphology |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Common arterial trunk with obstruction of aortic arch (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital ventricular septal defect |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anomalous origin of coronary artery from aortic sinus to left of nonfacing aortic sinus |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Transposition of aorta (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Double outlet right ventricle with subaortic ventricular septal defect |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atrial septal defect with endocardial cushion defect, partial type (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
D - transposition of the great vessels (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Double outlet from ventricle of indeterminate morphology |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Corrected transposition of great vessels |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Single outlet ventriculoarterial connection (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Incomplete great vessel transposition |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Double outlet right ventricle with doubly committed ventricular septal defect (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Muscular ventricular septal defect in marginal septum |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Double outlet right ventricle with noncommitted ventricular septal defect |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atrioventricular septal defect - isolated atrial component |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ostium primum defect |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ostium primum defect |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pilotto syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pilotto syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cervical spina bifida without hydrocephalus - open |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Coloboma of lens |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft palate with left cleft lip |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thoracic spina bifida without hydrocephalus - open |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spina bifida of sacral region (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
L - transposition of the great vessels |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Absent atrioventricular connection with straddling valve |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lumbar spina bifida without hydrocephalus - open |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft leaflet of mitral valve |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Central incomplete cleft palate with cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sacral spina bifida without hydrocephalus - open (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Supracristal ventricular septal defect |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spina bifida of cervical region |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Zlotogora Ogur syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Subarterial ventricular septal defect (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital cleft of thymus |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thoracic spina bifida with hydrocephalus - open |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Solitary arterial trunk (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate with cleft lip |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ventricular septal defect of inlet of right aspect of ventricular septum |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital tracheoesophageal cleft (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital tracheoesophageal cleft (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atrial septal defect with endocardial cushion defect, partial type (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Restrictive ventricular septal defect |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lipomeningocele (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sacral spina bifida with hydrocephalus - open |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cervical spina bifida without hydrocephalus - closed |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spina bifida of lumbar region (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cheilognathouranoschisis |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Midline cleft of lower lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Coloboma of eyelid (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Celoschisis |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Residual ventricular septal defect (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multiple ventricular septal defects |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tetralogy of Fallot |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital failure of fusion between maxillary and mandibular processes (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Thoracic spina bifida with hydrocephalus - closed |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Laryngeal cleft type I |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Complete cleft hard and soft palate (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Complete cleft hard and soft palate (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rachischisis (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spina bifida aperta of cervical spine (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital cleft hand |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Laryngeal cleft type II (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sacral spina bifida with hydrocephalus - closed (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Split foot |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Uniatrial biventricular connection with absent left sided atrioventricular connection with straddling valve |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Laryngeal cleft type III |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Incomplete bilateral cleft palate (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
D - transposition of the great vessels (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spina bifida with stenosis of aqueduct of Sylvius |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Preaxial polydactyly, colobomata, intellectual disability syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft hand - first cleft |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Laryngeal cleft type IV (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spina bifida with hydrocephalus of late onset |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital cleft thyroid cartilage |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft hard palate with left cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Doubly committed ventricular septal defect in double outlet ventriculoarterial connection |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft hard palate with right cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondyloschisis |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft hand - central (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pulmonary atresia with ventricular septal defect (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Kapur Toriello syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |