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 |