| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Progressive cerebello-cerebral atrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| SATB2-associated syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| SATB2-associated syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Periprosthetic aortic valve regurgitation |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
| Sagliker syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
| Behavioural disturbance due to multi-infarct dementia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
| Right ventricular failure due to pulmonary disease |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Right ventricular failure due to pulmonary vascular disease |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Right ventricular failure due to right ventricular infarction |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Right ventricular failure due to valvular heart disease |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Renal osteodystrophy due to hyperparathyroidism |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Impaired tissue integrity |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
| Impaired oral mucous membrane |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
| Autosomal dominant deafness with onychodystrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Autosomal dominant deafness with onychodystrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
| Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
| Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Incomplete induced termination of pregnancy complicated by renal failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Impaired response to stem cell mobilisation procedure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
| Complete induced termination of pregnancy complicated by renal failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Impaired ability to manage medication regime |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
| Faecal incontinence following creation of ileo-anal pouch |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
| Postoperative cardiac tamponade |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
| Profound hearing loss |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
| Profound sensorineural hearing loss |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
| Albinism-deafness syndrome of Tietz |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Psychogenic urinary incontinence |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
| Cognitive impairment caused by ethanol |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
| Cross syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
| Cross syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
| Microcephaly with brachydactyly and kyphoscoliosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
9 |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| NKX6-2-related autosomal recessive hypomyelinating leucodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
9 |
| NKX6-2-related autosomal recessive hypomyelinating leucodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
10 |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| QRICH1-related intellectual disability, chondrodysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| QRICH1-related intellectual disability, chondrodysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Keppen Lubinsky syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Keppen Lubinsky syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Pierpont syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Pierpont syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| RARS-related autosomal recessive hypomyelinating leucodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| RARS-related autosomal recessive hypomyelinating leucodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| SYNGAP1-related developmental and epileptic encephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| SYNGAP1-related developmental and epileptic encephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| PRUNE1-related neurological syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| PRUNE1-related neurological syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| 3-methylglutaconic aciduria type 9 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
| 3-methylglutaconic aciduria type 9 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Anterior maxillary protrusion, strabismus, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Anterior maxillary protrusion, strabismus, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| 9q33.3q34.11 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| 9q33.3q34.11 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| 16p13.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| 16p13.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Xq25 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Xq25 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| 17q24.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| 17q24.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| 9q21.13 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
| 9q21.13 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| 11q22.2q22.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| 11q22.2q22.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| 19p13.3 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| 19p13.3 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| 20q11.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| 20q11.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| 8q24.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| 8q24.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Megaconial congenital muscular dystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Megaconial congenital muscular dystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| CNTNAP2-related developmental and epileptic encephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| CNTNAP2-related developmental and epileptic encephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Encephalopathy due to mitochondrial and peroxisomal fission defect |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Encephalopathy due to mitochondrial and peroxisomal fission defect |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| PDE4D haploinsufficiency syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| PDE4D haploinsufficiency syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| FG syndrome type 1 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| FG syndrome type 1 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |