Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Cerebrofacioarticular syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital vesicoureterorenal reflux |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital vesicoureterorenal reflux |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Spina bifida with hydrocephalus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital anomaly of lacrimal system |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple malformation syndrome due to non-infectious environmental agents |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Radioulnar synostosis with developmental delay and hypotonia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Bilateral ductus arteriosus with closed left ductus arteriosus and patent right ductus arteriosus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Jarcho-Levin syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Renal agenesis and dysgenesis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital heart disease, septal and bulbar anomalies |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Bipartite right ventricle |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Failure of soft tissue differentiation of lower limb |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Failure of soft tissue differentiation of lower limb |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
DK phocomelia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Ruvalcaba-Myhre syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Ruvalcaba-Myhre syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Primary ciliary dyskinesia and retinitis pigmentosa syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Prepapillary vascular loop |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Descending aorta anterior and same side as azygos vein with azygos continuity of inferior vena cava |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant centronuclear myopathy |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hydromeningocele - cranial |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital anomaly of calcaneus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalus with cardiac defect and lung malsegmentation syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital abnormality of nipple |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Deafness with epiphyseal dysplasia and short stature syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Deafness with epiphyseal dysplasia and short stature syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital cerebral meningocele |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Congenital anomaly of endocrine gonad |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Anomalies of cerebrum |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Fissured spine with hydrocephalus |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital malformation of salivary glands and ducts |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Irido-corneo-trabecular dysgenesis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Malformation of central nervous system of fetus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Malformation of central nervous system of fetus |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive chorioretinopathy and microcephaly syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive chorioretinopathy and microcephaly syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability, epilepsy, bulbous nose syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomaly of the thymus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Double barrel dual coronary artery orifices within aortic sinus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Double barrel dual coronary artery orifices within aortic sinus |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Lack of ossification of nasal bone |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital anomaly of peritoneum |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Cervical aortic arch |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Benign congenital muscular dystrophy with finger flexion contractures |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomaly of visual system |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital malformation caused by cytotoxic agents |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital malformation of the meninges |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Athyrotic hypothyroidism sequence |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Kapur Toriello syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Kapur Toriello syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Posterior segment vascular anomalies |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Posterior segment vascular anomalies |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Posterior segment vascular anomalies |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Lack of ossification of lacrimal bone |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Dermatoglyphs - skin lines |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Patent ductus venosus |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Cleft palate lateral synechia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital stricture of osseous meatus of middle ear |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Systemic to pulmonary collateral artery |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Systemic to pulmonary collateral artery |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital anomaly of interparietal bone |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Young's syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomaly of large intestine |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Infracardiac location of anomalous pulmonary venous connection |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital anomaly of upper trunk |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Osteopetrosis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Cervical hypertrichosis and peripheral neuropathy syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Rieger eye malformation sequence |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Familial multiple nevi flammei |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Duane's syndrome, type 1 |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Duane's syndrome, type 1 |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Bilateral patent ductus arteriosus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Coarctation of right pulmonary artery |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Periodontitis co-occurrent with Cohen syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Seaver Cassidy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Seaver Cassidy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Seaver Cassidy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Lack of ossification of centrum of cervical vertebra |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Phakomatosis cesioflammea |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Phakomatosis cesioflammea |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Phakomatosis cesioflammea |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital J shaped sella turcica |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microlissencephaly micromelia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Microlissencephaly micromelia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Leptomyelolipoma |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Bulbus cordis and cardiac septal closure anomalies |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Bulbus cordis and cardiac septal closure anomalies |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Craniofrontonasal dysplasia |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Vestigial gastrointestinal remnant |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Vestigial gastrointestinal remnant |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Acrocephalopolydactyly |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Acrocephalopolydactyly |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Smith-Lemli-Opitz syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Odonto-tricho-ungual-digito-palmar syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |