| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Childhood-onset spasticity with hyperglycinaemia |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Progressive retinal dystrophy due to retinol transport defect |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Progressive myoclonic epilepsy type 3 |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| ABri amyloidosis |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy with intellectual disability |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy without intellectual disability |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy with cerebellar involvement |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy with intellectual disability and severe epilepsy |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| ADan amyloidosis |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Osteopetrosis with renal tubular acidosis |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Larsen-like syndrome B3GAT3 type |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Reunion Island Larsen-like syndrome |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic tophaceous gout of shoulder due to drug |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| North American Indian childhood cirrhosis |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Mitochondrial neurogastrointestinal encephalomyopathy syndrome |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Progressive external ophthalmoplegia, myopathy, emaciation syndrome |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Autosomal dominant progressive external ophthalmoplegia |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Autosomal recessive progressive external ophthalmoplegia |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Neuronal ceroid lipofuscinosis 8 |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Cirrhosis co-occurent and due to haemochromatosis |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Intercritical gout |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic gout caused by drug |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic gout caused by lead |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Monoarticular chronic primary gouty arthritis |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Progressive intrahepatic cholestasis |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| 2-methyl-3-hydroxybutyric aciduria |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| POGLUT1-related limb girdle muscular dystrophy R21 |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Hyper-IgD periodic fever syndrome (HIDS) |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Allan-Herndon-Dudley syndrome |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| MT-ATP6-related mitochondrial spastic paraplegia |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic bilirubin encephalopathy |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Multiple mitochondrial dysfunctions syndrome type 4 |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Autosomal dominant mitochondrial myopathy with exercise intolerance |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Polyglucosan body myopathy type 2 |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Megaconial congenital muscular dystrophy |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic hypokalaemia |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Limb girdle muscular dystrophy due to POMK deficiency |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| MEPAN syndrome |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Classical-like Ehlers-Danlos syndrome type 2 |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Spastic ataxia, dysarthria due to glutaminase deficiency |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic hypernatraemia |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic hyperglycaemia |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic gouty nephropathy |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Acute intermittent porphyria |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Saturnine nephropathy |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Benign recurrent intrahepatic cholestasis |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic anoxic encephalopathy |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic hyperkalaemia |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic hyponatraemia |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic milk alkali syndrome |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Haemolytic anaemia with emphysema AND cutis laxa |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic non-neuropathic Gaucher's disease |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic arthritis due to gout |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic zinc deficiency |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Hepatogenous chronic copper poisoning |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic tophaceous gout |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic cholestatic jaundice syndrome |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic hypertensive uraemia |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Recurrent severe hypoglycaemia |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic respiratory acidosis |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Congenital hypoplastic anaemia |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic respiratory alkalosis |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Hepatic coma due to chronic hepatitis B |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic hypoxemic respiratory failure |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic hypercapnia |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Urate nephropathy |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic gout without tophus |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Lichen amyloidosis |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic primary gouty arthritis |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic diarrhoea with villous atrophy syndrome |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Chronic painful neuropathy due to diabetes mellitus |
Is a |
False |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Indian childhood cirrhosis |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Myoclonic epilepsy with ragged red fibres |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|
| Progressive polyneuropathy with bilateral striatal necrosis |
Is a |
True |
Chronic metabolic disorder |
Inferred relationship |
Some |
|