| 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 |