Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Autosomal recessive cerebellar ataxia due to STUB1 deficiency |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 69 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 71 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal spastic paraplegia type 72 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Huntington disease-like syndrome due to C9ORF72 expansions |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 60 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 66 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Infantile cerebellar and retinal degeneration |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Infantile cerebellar and retinal degeneration |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Brachydactyly, short stature, retinitis pigmentosa syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
3 |
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Progressive myoclonic epilepsy type 3 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 14 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Leigh syndrome with nephrotic syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Ataxia with tapetoretinal degeneration syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 38 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
X-linked spastic paraplegia type 16 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 13 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 56 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Amyotrophic lateral sclerosis type 4 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Huntington disease-like 1 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 58 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 70 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 31 |
Associated morphology |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 41 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 42 |
Associated morphology |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 48 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 37 |
Associated morphology |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
X-linked spastic paraplegia type 34 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 5A |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 12 |
Associated morphology |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 19 |
Associated morphology |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 28 |
Associated morphology |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal spastic paraplegia type 30 |
Associated morphology |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Spastic paraplegia, neuropathy, poikiloderma syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Spastic paraplegia, facial cutaneous lesion syndrome |
Associated morphology |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Hypotonia, speech impairment, severe cognitive delay syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 15 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 35 |
Associated morphology |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 21 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 43 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 62 |
Associated morphology |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia with axonal neuropathy type 1 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia with axonal neuropathy type 1 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Primary essential cutis verticis gyrata |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 45 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 67 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Sarcopenia |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 59 |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Severe neurodegenerative syndrome with lipodystrophy |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
PRKAR1B-related neurodegenerative dementia with intermediate filaments |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Ferro-cerebro-cutaneous syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Fatal post-viral neurodegenerative disorder |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Stickler syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Deafmutism-retinal degeneration syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Diffuse Lewy body disease |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
3 |
Diffuse Lewy body disease |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Primary progressive cerebellar degeneration |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Neurofibrillary degeneration |
Is a |
True |
Degenerative abnormality |
Inferred relationship |
Some |
|
Angioid streaks of choroid |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Descending degeneration |
Is a |
True |
Degenerative abnormality |
Inferred relationship |
Some |
|
Dying back phenomenon |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Wilson's disease |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Wilson's disease |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Wilson's disease |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
3 |
Peripheral degeneration of cornea |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Juvenile osteochondrosis of head of metacarpals |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Aicardi's syndrome |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Degenerative disease of the central nervous system |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Abnormal hard tissue formation in pulp |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Iridectomy with filtering operation for glaucoma |
Procedure morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Flat retinoschisis |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Juvenile osteochondrosis of carpal lunate |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Transposition of pterygium |
Procedure morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Focal degeneration |
Is a |
True |
Degenerative abnormality |
Inferred relationship |
Some |
|
Granulovacuolar degeneration |
Is a |
True |
Degenerative abnormality |
Inferred relationship |
Some |
|
Posthemiplegic ataxia |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Mucoid degeneration |
Is a |
True |
Degenerative abnormality |
Inferred relationship |
Some |
|
Localised osteoarthrosis uncertain if primary OR secondary |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Azorean disease |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Azorean disease |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Azorean disease, type I |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Azorean disease, type I |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Azorean disease, type II |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Azorean disease, type II |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Azorean disease, type III |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Azorean disease, type III |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Azorean disease, type IV |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Azorean disease, type IV |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Chronic degenerative aortic valve disease |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Circumpapillary dystrophy of choroid |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Congenital degeneration of nervous system |
Associated morphology |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Congenital retinoschisis |
Associated morphology |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |