| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability, hypotonia, movement disorder syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Generalised inflammatory peeling skin syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Generalised non-inflammatory peeling skin syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital prepapillary vascular loop |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital prepapillary vascular loop |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Klein-Waardenberg's syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Klein-Waardenberg's syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Waardenburg syndrome type 1 |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Myopathic Ehlers-Danlos syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Myopathic Ehlers-Danlos syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Myopathic Ehlers-Danlos syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Myopathic Ehlers-Danlos syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Classical-like Ehlers-Danlos syndrome type 2 |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Classical-like Ehlers-Danlos syndrome type 2 |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Classical-like Ehlers-Danlos syndrome type 2 |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Ichthyosis hystrix gravior |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Mirror-image polydactyly |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Oculocerebrodental syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Oculocerebrodental syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Oculocerebrodental syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Oculocerebrodental syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Oculocerebrodental syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Congenital myopathy with reduced type 2 muscle fibres |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| X-linked myotubular myopathy, abnormal genitalia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| X-linked myotubular myopathy, abnormal genitalia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Spastic ataxia, dysarthria due to glutaminase deficiency |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Griscelli syndrome type 1 |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Griscelli syndrome type 1 |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Griscelli syndrome type 3 |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Griscelli syndrome type 3 |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability, short stature, overweight syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital umbilical hernia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Localised non-Herlitz junctional epidermolysis bullosa |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital isolated onychodysplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Duplication of root of permanent tooth due to and following dental trauma |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Dilaceration of crown of permanent tooth due to and following dental trauma |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Infraocclusion of tooth due to and following dental trauma |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital abnormality of atrioventricular valves in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Imperforate common atrioventricular valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Common atrioventricular valve limited to one ventricle |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Accessory tissue on common atrioventricular valve leaflet |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Triple orifice of left ventricular component of common atrioventricular valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Ebstein's anomaly of common atrioventricular valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Common atrioventricular valve chordae too short |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Common atrioventricular valve chordae too long |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Common atrioventricular valve chordae to outlet septum |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Arcade abnormality of common atrioventricular valve chordae |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Atresia of common atrioventricular valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Hypoplasia of common atrioventricular valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Dysplasia of common atrioventricular valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Common atrioventricular valve leaflet abnormality |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Common atrioventricular valve prolapse |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Abnormality of common atrioventricular valve chordae tendinae |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Abnormality of common atrioventricular valve papillary muscle |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Fused common atrioventricular valve papillary muscle |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Hypoplastic common atrioventricular valve papillary muscle |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Abnormality of common atrioventricular valve in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Trifoliate left atrioventricular valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Left atrioventricular valve bifoliate with fused left sided superior and inferior bridging leaflet |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Gelatinous atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Noncoapting atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Deficiency of atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Thickened atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Flail atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Fenestration of atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Mass associated with atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital abnormality of atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Abnormality of atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Accessory tissue on common atrioventricular valve leaflet |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Triple orifice of left ventricular component of common atrioventricular valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Ebstein's anomaly of common atrioventricular valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Common atrioventricular valve leaflet abnormality |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Common atrioventricular valve prolapse |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Gelatinous atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Noncoapting atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Deficiency of atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Thickened atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Flail atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Fenestration of atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Mass associated with atrioventricular valve leaflet in atrioventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| True cleft of common atrioventricular valve leaflet |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital complete absence of left upper limb |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital complete absence of right upper limb |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Baraitser Winter cerebrofrontofacial syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Sporadic camptodactyly |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital multi-minicore disease with external ophthalmoplegia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Menke Hennekam syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| PUM1-associated developmental disability, ataxia, seizure syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| WARS2-related combined oxidative phosphorylation defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |