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 |