Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Kapur Toriello syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Cleft soft palate with left cleft lip |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Secondary lens coloboma |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Cleft hand with syndactyly |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Primary lens coloboma |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital cleft of cardiac valve |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Cleft hand with polydactyly |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Cleft hard and soft palate with right cleft lip |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Cleft hard and soft palate with right cleft lip |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Cholestasis with pigmentary retinopathy and cleft palate syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Anomalous origin of single coronary artery from nonfacing aortic sinus |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Bilateral incomplete cleft palate with cleft lip |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Bilateral incomplete cleft palate with cleft lip |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Central complete cleft palate with cleft lip |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Cleft hard and soft palate with left cleft lip |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Cleft hard and soft palate with left cleft lip |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Sacral spina bifida without hydrocephalus - closed |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Okamoto syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Cleft palate with right cleft lip |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Central complete cleft palate |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Central complete cleft palate |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Bilateral complete cleft palate with cleft lip |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Bilateral complete cleft palate with cleft lip |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital coloboma of optic disc |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital hypoplasia of ulna and split foot syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Giant ventricular septal defect |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Spina bifida of dorsal region |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Lumbar myelocystocele |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Tetralogy of Fallot with pulmonary atresia |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Oto-palato-digital syndrome, type II |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Doubly committed subarterial ventricular septal defect |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Cleft lip retinopathy syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Thoracic spina bifida without hydrocephalus - closed |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Opitz-Frias syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Cleft leaflet of tricuspid valve |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Cervical spina bifida with hydrocephalus |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Doubly committed subarterial ventricular septal defect with membranous septum extension |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Myelomeningocele co-occurrent with hydrocephalus |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Roger's disease |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Hologastroschisis |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Auricular abnormality, cleft lip, ocular abnormality syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Cleft uvula |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Complete bilateral cleft palate |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Complete bilateral cleft palate |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Cleft soft palate with right cleft lip |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cleft of posterior cricoid cartilage |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Spina bifida |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Myeloschisis |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Biemond syndrome type 2 |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Incomplete great vessel transposition |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Tetralogy of Fallot with pulmonary stenosis |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Cervical spina bifida with hydrocephalus - open |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Thoracic spina bifida with hydrocephalus |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Cleft palate with short stature and vertebral anomaly syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Ventricular septal defect between left ventricle and right atrium |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Lumbar spina bifida without hydrocephalus - closed |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Cervical spina bifida with hydrocephalus - closed |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Holorachischisis |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Van der Woude syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Fallot complex with intellectual disability and growth delay syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Pentalogy of Fallot |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
4 |
Secondary lens coloboma |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Primary lens coloboma |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Tetralogy of Fallot with absent pulmonary valve |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
4 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Native American myopathy |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Ventricular septal defect in Fallot's tetralogy |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Hypertelorism with microtia and facial clefting syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Cervical myelocystocele |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Thoracic myelocystocele |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
XY type gonadal dysgenesis with associated anomalies syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Thoracic spina bifida without hydrocephalus - closed |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Spina bifida aperta of lumbar spine |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Rachischisis with hydrocephalus |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Aural atresia with multiple congenital anomalies and intellectual disability syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Cervical spina bifida without hydrocephalus - open |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Cleft lip and cleft palate with ectodermal dysplasia syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
4 |
Spina bifida aperta of thoracic spine |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Cervical spina bifida without hydrocephalus - closed |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
3 |
Thoracic spina bifida without hydrocephalus - open |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
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 |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
5 |
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 |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
5 |
Ventricular septal defect with malaligned outlet septum |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Goldberg Shprintzen megacolon syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
2 |
Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
4 |
Hypospadias, hypertelorism, coloboma, deafness syndrome |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
Ventricular septal defect with malaligned outlet septum to right |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |
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 |
Associated morphology |
False |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
5 |
Weaver Williams syndrome |
Associated morphology |
True |
Developmental failure of fusion |
Inferred relationship |
Existential restriction modifier |
1 |