| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Congenital kyphosis of cervicothoracic spine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| 4H leucodystrophy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Polymicrogyria due to TUBB2B mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Congenital anomaly of craniovertebral junction |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital kyphosis of cervicothoracic spine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital fibre-type disproportion myopathy due to MYH7 mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Joint contractures, developmental delay, Pierre Robin syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Joint contractures, developmental delay, Pierre Robin syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Cerebral ventriculomegaly, cystic kidney disease |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Mandibulofacial dysostosis with alopecia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Incomplete achromatopsia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Primary lymphoedema |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Lymphoedema praecox |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Primary lymphoedema tardum |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hereditary lymphoedema |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bilateral congenital elevation of scapulae |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital absence of left lower leg and foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital absence of left lower leg and foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital absence of right lower leg and foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital absence of right lower leg and foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Warts, immunodeficiency, lymphoedema, anogenital dysplasia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Lymphoedema, posterior choanal atresia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Dahlberg Borer Newcomer syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| German syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Emberger syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Hereditary lymphoedema type I |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hereditary lymphoedema type II |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hereditary lymphoedema and yellow nails |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Cholestasis-oedema syndrome, Norwegian type |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Distichiasis-lymphoedema syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Male sexual precocity with adrenal hyperplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Psychosocial short stature |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Male pseudohermaphroditism due to congenital adrenal hyperplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Female pseudohermaphroditism due to congenital adrenal hyperplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Pseudohermaphroditism due to congenital adrenal hyperplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bilateral congenital elevation of scapulae |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Hyperostosis cranialis interna |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hyperostosis cranialis interna |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Progressive scapulohumeroperoneal distal myopathy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Female adrenal virilisation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Primary lymphoedema with systemic and visceral involvement |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Primary lymphoedema with systemic involvement |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Primary lymphoedema with visceral involvement |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Syndromic primary lymphoedema |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| PLAA-associated neurodevelopmental disorder |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Severe myopia, generalised joint laxity, short stature syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Severe myopia, generalised joint laxity, short stature syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Diaphragmatic hernia, short bowel, asplenia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Diaphragmatic hernia, short bowel, asplenia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Diaphragmatic hernia, short bowel, asplenia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Diaphragmatic hernia, short bowel, asplenia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| NKX6-2-related autosomal recessive hypomyelinating leucodystrophy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
8 |
| HELIX syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital fibrosis syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital fibrosis syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Vertical retraction syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Vertical retraction syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital fibrosis of inferior rectus muscle |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Congenital fibrosis of inferior rectus muscle |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital kyphoscoliosis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Ehlers-Danlos syndrome, hydroxylysine-deficient |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Ehlers-Danlos syndrome kyphoscoliotic and deafness type |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
7 |
| Ehlers-Danlos syndrome kyphoscoliotic type |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Microcephaly with brachydactyly and kyphoscoliosis syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
7 |
| Congenital lacrimal punctum membrane |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital corneal leucoma |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital distortion of orbit |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital expansion of orbit |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Oculomotor apraxia - Cogan type |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Colobomatous cyst of orbit |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |