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 |