Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Osteopenia, intellectual disability, sparse hair syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Microbrachycephaly, ptosis, cleft lip syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Hypertelorism Teebi type |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Congenital anomaly of blood vessel of orbit proper |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Pachyonychia congenita type III of Schafer-Brunauer |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Repair of interrupted aortic arch |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Craniosynostosis Boston type |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Microcephaly, seizure, intellectual disability, heart disease syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Carrier of fragile X chromosome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Jackson-Weiss syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Microcephaly with cardiac defect and lung malsegmentation syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Tripartite right ventricle |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Odonto-tricho-ungual-digito-palmar syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Vitellointestinal band |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Biliary atresia with splenic malformation syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Carrier of Canavan disease |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Right atrial appendage - left - juxtaposition |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Acrofrontofacionasal dysostosis type 2 |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Parietal foramina with clavicular hypoplasia |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Carrier of haemoglobinopathy E disorder |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Cholestasis with pigmentary retinopathy and cleft palate syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Filippi syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Pachyonychia congenita type II of Jackson-Lawler |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Deafness, enamel hypoplasia, nail defect syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Tendon transfer and arthrodesis to correct claw toe |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Carrier of muscular dystrophy |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
PENS syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Carrier of von Willebrand disease |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Amelogenesis imperfecta, hypocalcification type |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Hirschsprung disease with nail hypoplasia and dysmorphism |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Pterygium colli with intellectual disability and digital anomaly syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Acro-dermato-ungual-lacrimal-tooth syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Ehlers-Danlos syndrome musculocontractural type |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Hypotonia, speech impairment, severe cognitive delay syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Radio-renal syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Ponseti manipulation |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Oto-palato-digital syndrome, type II |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
15q overgrowth syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
CAMOS syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Unipartite right ventricle |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Primary correction of clubfoot |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Prominent valve of inferior vena cava |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Short rib polydactyly syndrome Saldino Noonan type |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Trigonocephaly with bifid nose and acral anomaly syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Sandman-Andra syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Temtamy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Overgrowth, macrocephaly, facial dysmorphism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
5p13 microduplication syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Atrioventricular septal defect - ventricular component |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Atrioventricular septal defect with atrioventricular valve regurgitation |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Carrier of haemoglobinopathy C disorder |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Cervical spina bifida with hydrocephalus - open |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Sacral spina bifida with hydrocephalus - open |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Cervical spina bifida with hydrocephalus - closed |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Spina bifida with hydrocephalus - open |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Lumbar spina bifida with hydrocephalus - closed |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Sacral spina bifida with hydrocephalus - closed |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Lumbar spina bifida with hydrocephalus - open |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Lumbar spina bifida with hydrocephalus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Lumbosacral neuritis, unspecified |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Ovotestis |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Moon's molar teeth |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Infection causing congenital anomaly |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Hutchinson's teeth |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Anomaly of fetal kidney |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
RAB18, member RAS oncogene family deficiency |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Warburg micro syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Warburg micro syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Vestibular neuronitis of left inner ear |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Bilateral vestibular neuronitis of inner ears |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Bilateral vestibular neuronitis of inner ears |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Vestibular neuronitis of right inner ear |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
X-linked intellectual disability, craniofacioskeletal syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Postaxial polydactyly, dental, vertebral anomalies syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Postaxial polydactyly, dental, vertebral anomalies syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Thakker Donnai syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Spondyloepimetaphyseal dysplasia Genevieve type |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Zechi Ceide syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Zechi Ceide syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Zechi Ceide syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Hydrocephalus, blue sclera, nephropathy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Hydrocephalus, blue sclera, nephropathy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Congenital lethal myopathy Compton North type |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Xeroderma pigmentosum and Cockayne syndrome complex |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Malignant hyperthermia with arthrogryposis and torticollis syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Papillon-Lefèvre syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Telecanthus, hypertelorism, strabismus, pes cavus syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Facial dysmorphism, conductive hearing loss, heart defect syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Fetal akinesia, cerebral and retinal haemorrhage syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Haim Munk syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Lack of ossification of auditory ossicles |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Lack of ossification of vomer |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
CK syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Lack of ossification of mandible |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |