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 |