| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
2 |
| Muscle eye brain disease with bilateral multicystic leukodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Galactocerebroside beta-galactosidase deficiency - early onset |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Pelizaeus Merzbacher like disease due to HSPD1 mutation |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
2 |
| Pelizaeus Merzbacher like disease due to SLC16A2 mutation |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
2 |
| Pelizaeus Merzbacher like disease due to AIMP1 mutation |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
2 |
| Pelizaeus Merzbacher like disease due to GJC2 mutation |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
2 |
| Pelizaeus-Merzbacher disease null syndrome |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Pelizaeus-Merzbacher disease in female carrier |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Vanishing white matter disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Ovarioleucodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| C11ORF73-related autosomal recessive hypomyelinating leucodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| VPS11-related autosomal recessive hypomyelinating leucodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Multiple mitochondrial dysfunctions syndrome type 4 |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| 4H leucodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| NKX6-2-related autosomal recessive hypomyelinating leucodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| RARS-related autosomal recessive hypomyelinating leucodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Alkaline ceramidase 3 deficiency |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Juvenile Alexander disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Infantile Alexander disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Adult Alexander disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Entire myelinated nerve fibre |
Is a |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
|
| Myelin sheath structure |
Is a |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
|
| Myelinated retinal nerve fibres |
Is a |
False |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
|
| Leucodystrophy without a known biochemical basis |
Finding site |
False |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Odontoleukodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Phytanic acid storage disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Leucodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Galactosylceramide beta-galactosidase deficiency |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Adult onset autosomal dominant leucodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| RNA polymerase III-related leukodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
2 |
| RAVINE syndrome |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Tubulin beta 4A class IVa related leukodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Pelizaeus Merzbacher like disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
2 |
| Cerebroretinal vasculopathy |
Finding site |
False |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Globoid cell leucodystrophy, late-onset |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Dermatoleukodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
2 |
| Neuroaxonal leucodystrophy |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
2 |
| Metachromatic leucodystrophy, adult type |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Alexander's disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
2 |
| Ataxia co-occurrent and due to phytanic acid storage disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
3 |
| Pelizaeus-Merzbacher disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
2 |
| Type III transitional Pelizaeus-Merzbacher disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Pelizaeus-Merzbacher disease, classic form |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Pelizaeus-Merzbacher disease, connatal variant |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Type V atypical Pelizaeus-Merzbacher disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Type IV adult Pelizaeus-Merzbacher disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Type VI Cockayne Pelizaeus-Merzbacher disease |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
1 |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
3 |
| Spastic paraplegia type 2 |
Finding site |
True |
Myelinated nerve fibre structure |
Inferred relationship |
Some |
3 |