| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Classical-like Ehlers-Danlos syndrome type 2 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Classical-like Ehlers-Danlos syndrome type 2 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Classical-like Ehlers-Danlos syndrome type 2 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
| Senter syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
5 |
| Ichthyosis hystrix gravior |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Cystathioninuria |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Mirror-image polydactyly |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Oculocerebrodental syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Oculocerebrodental syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Oculocerebrodental syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
| Oculocerebrodental syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
| Oculocerebrodental syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
5 |
| Oculocerebrodental syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
7 |
| Congenital myopathy with reduced type 2 muscle fibers |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| X-linked myotubular myopathy, abnormal genitalia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| X-linked myotubular myopathy, abnormal genitalia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| X-linked myotubular myopathy, abnormal genitalia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked myotubular myopathy, abnormal genitalia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Spastic ataxia, dysarthria due to glutaminase deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Hypopigmentation-immunodeficiency disease type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Hypopigmentation-immunodeficiency disease type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Hypopigmentation-immunodeficiency disease type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
| Hypopigmentation-immunodeficiency disease type 3 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Hypopigmentation-immunodeficiency disease type 3 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Hypopigmentation-immunodeficiency disease type 3 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual disability, short stature, overweight syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital umbilical hernia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital umbilical hernia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Localized junctional epidermolysis bullosa non-Herlitz type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital isolated onychodysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Imperforate common atrioventricular valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Common atrioventricular valve limited to one ventricle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Accessory tissue on common atrioventricular valve leaflet |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Triple orifice of left ventricular component of common atrioventricular valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Ebstein's anomaly of common atrioventricular valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Common atrioventricular valve chordae too short |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Common atrioventricular valve chordae too long |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Common atrioventricular valve chordae to outlet septum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Arcade abnormality of common atrioventricular valve chordae |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Atresia of common atrioventricular valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Hypoplasia of common atrioventricular valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Dysplasia of common atrioventricular valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Common atrioventricular valve leaflet abnormality |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Common atrioventricular valve prolapse |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Abnormality of common atrioventricular valve chordae tendinae |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Abnormality of common atrioventricular valve papillary muscle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Fused common atrioventricular valve papillary muscle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Hypoplastic common atrioventricular valve papillary muscle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Abnormality of common atrioventricular valve in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Trifoliate left atrioventricular valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Left atrioventricular valve bifoliate with fused left sided superior and inferior bridging leaflet |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Gelatinous atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Noncoapting atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Deficiency of atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Thickened atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Flail atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Fenestration of atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Mass associated with atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Abnormality of atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Accessory tissue on common atrioventricular valve leaflet |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Triple orifice of left ventricular component of common atrioventricular valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Ebstein's anomaly of common atrioventricular valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
| Common atrioventricular valve leaflet abnormality |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Common atrioventricular valve prolapse |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
| Gelatinous atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Noncoapting atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Deficiency of atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Thickened atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Flail atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Fenestration of atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
| Mass associated with atrioventricular valve leaflet in atrioventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
| True cleft of common atrioventricular valve leaflet |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital complete absence of left upper limb |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital complete absence of right upper limb |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Baraitser Winter cerebrofrontofacial syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Sporadic camptodactyly |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital hypogammaglobulinemia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital multi-minicore disease with external ophthalmoplegia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Menke Hennekam syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
| Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Syndromic sensorineural deafness due to combined oxidative phosphorylation defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital leptin deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital vertebral, cardiac, renal anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital vertebral, cardiac, renal anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital vertebral, cardiac, renal anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
| Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
| Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
| Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
| Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
| Large congenital pigmented melanocytic nevus of skin |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |