Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
FG syndrome type 1 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Symptomatic form of fragile X syndrome in female carrier |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Symptomatic form of fragile X syndrome in female carrier |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
PYCR2-related microcephaly, progressive leucoencephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
PYCR2-related microcephaly, progressive leucoencephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
NDE1-related microhydranencephaly |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
NDE1-related microhydranencephaly |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Short stature, developmental delay, congenital heart defect syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Short stature, developmental delay, congenital heart defect syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Coffin-Lowry syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Coffin-Lowry syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Fatty acyl-CoA reductase 1 deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
Fatty acyl-CoA reductase 1 deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Congenital insensitivity to pain with severe intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Congenital insensitivity to pain with severe intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Severe intellectual disability and progressive spastic paraplegia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Severe intellectual disability, progressive spastic diplegia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Severe intellectual disability, progressive spastic diplegia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Severe oculo-renal-cerebellar syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
11 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
12 |
Severe intellectual disability and progressive spastic paraplegia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
9 |
4q25 proximal deletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
4q25 proximal deletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Lamb Shaffer syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Lamb Shaffer syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
12p12.1 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
12p12.1 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
X-linked intellectual disability, hypotonia, movement disorder syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
X-linked intellectual disability, hypotonia, movement disorder syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Postprocedural acute renal failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Impaired contractility of gallbladder |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
X-linked intellectual disability, short stature, overweight syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
X-linked intellectual disability, short stature, overweight syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Baraitser Winter cerebrofrontofacial syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Baraitser Winter cerebrofrontofacial syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Alzheimer disease with psychosis |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Amyotrophic lateral sclerosis, parkinsonism, dementia complex of Kii Peninsula |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Amyotrophic lateral sclerosis, parkinsonism, dementia complex of West New Guinea |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Acute renal failure syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Acute milk alkali syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Chronic renal failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Hepatorenal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
End-stage renal disease |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Failed attempted termination of pregnancy with acute renal failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Pulmonary renal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
End stage renal failure untreated by renal replacement therapy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
End stage renal failure with renal transplant |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Post-delivery acute renal failure with postnatal problem |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Post-renal renal failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Transient acute renal failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Familial arthrogryposis-cholestatic hepatorenal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Anaemia of chronic renal failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Acute renal failure due to ACE inhibitor |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Acute renal failure due to ischemia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Chronic progressive renal failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Acute renal failure due to acute cortical necrosis |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Acute renal failure due to obstruction |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Acute renal failure with oliguria |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Acute renal papillary necrosis with renal failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Induced termination of pregnancy complicated by acute renal failure with oliguria |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
9 |
Anemia, pre-end stage renal disease on erythropoietin protocol |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
End stage renal disease on dialysis due to hypertension |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Acute kidney injury due to circulatory failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Acute kidney injury due to sepsis |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Congenital haemolytic uraemic syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
10 |
End stage renal disease due to benign hypertension |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Hepatorenal syndrome due to a procedure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
End stage renal failure on dialysis |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Hypertension concurrent and due to end stage renal disease on dialysis |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Anemia co-occurrent and due to end stage renal disease |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
End stage renal disease on dialysis due to type 1 diabetes mellitus |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
End stage renal disease on dialysis due to type 2 diabetes mellitus |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Hypertension concurrent and due to end stage renal disease on dialysis due to type 2 diabetes mellitus |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Hypertension concurrent and due to end stage renal disease on dialysis due to type 1 diabetes mellitus |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Acute renal failure on dialysis |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Acute renal failure due to tubular necrosis |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
End stage renal disease due to hypertension |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Acute renal failure caused by contrast agent |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Anaemia co-occurrent and due to chronic kidney disease stage 3 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
End stage renal disease on dialysis due to drug induced diabetes mellitus |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Traumatic anuria - crush syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Familial haemolytic uraemic syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
9 |