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 |
|