Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Contiguous ABCD1 DXS1357E deletion syndrome (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
syndrome de cataracte congénitale-surdité-retard de développement sévère |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Lipoic acid synthetase deficiency (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Congenital muscular dystrophy with cerebellar involvement |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Congenital muscular dystrophy with intellectual disability |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Combined oxidative phosphorylation defect type 11 |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Navajo neurohepatopathy |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Combined oxidative phosphorylation defect type 30 |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Combined oxidative phosphorylation defect type 29 |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Combined oxidative phosphorylation defect type 27 |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Combined oxidative phosphorylation defect type 25 (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Combined oxidative phosphorylation defect type 23 |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Seizures, scoliosis, macrocephaly syndrome (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Multiple mitochondrial dysfunctions syndrome type 3 |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Multiple mitochondrial dysfunctions syndrome type 4 |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Combined deficiency of sialidase AND beta galactosidase |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Ethylmalonic encephalopathy (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Hereditary hyperekplexia (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Pseudoprogeria syndrome (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Pyridoxine-dependent epilepsy (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Leukoencephalopathy, dystonia, motor neuropathy syndrome |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Recessive mitochondrial ataxia syndrome (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Male emopamil-binding protein disorder with neurological defect |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Mitochondrial DNA depletion syndrome hepatocerebrorenal form |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Congenital muscular dystrophy with intellectual disability and severe epilepsy |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Leber's optic atrophy (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
aspartylglucosaminurie (trouble) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
HSMN IV |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
lipoïdose cérébrale |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
déficit en alpha-N-acétylgalactosaminidase |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Acyl-coenzyme A oxidase deficiency (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Thyrotoxicosis due to pituitary thyroid hormone resistance |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Myoclonic epilepsy myopathy sensory ataxia (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Allan-Herndon-Dudley syndrome |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Severe X-linked mitochondrial encephalomyopathy (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Folinic acid responsive seizure syndrome (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Mitochondrial pyruvate carrier deficiency |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Neonatal epileptic encephalopathy due to glutaminase deficiency |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Megaconial congenital muscular dystrophy |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Limb girdle muscular dystrophy due to POMK deficiency |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Acute neuronopathic Gaucher's disease |
est un(e) (attribut) |
False |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Arginase deficiency |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
sialidose |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Globoid cell leucodystrophy, late-onset |
est un(e) (attribut) |
False |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
céroïde-lipofuscinose neuronale |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
gangliosidose (trouble) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
maladie de Niemann-Pick type A (trouble) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Subacute neuronopathic Gaucher's disease |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Pelizaeus-Merzbacher disease |
est un(e) (attribut) |
False |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Deficiency of cerebroside-sulfatase |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Alexander's disease |
est un(e) (attribut) |
False |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Niemann-Pick disease, type C, acute form |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Pyruvate carboxylase deficiency |
est un(e) (attribut) |
False |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Deficiency of monoamine oxidase A (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Encephalopathy due to prosaposin deficiency (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Ganglioside GM3 synthase deficiency (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Thiamine-responsive encephalopathy (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Mucolipidosis type IV (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
Deficiency of alpha-ketoglutarate dehydrogenase (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) |
est un(e) (attribut) |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|