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 |