Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Autosomal recessive cerebellar ataxia due to STUB1 deficiency |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 69 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 71 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal spastic paraplegia type 72 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 60 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 66 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Infantile cerebellar and retinal degeneration (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Infantile cerebellar and retinal degeneration (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
3 |
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Progressive myoclonic epilepsy type 3 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 14 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Leigh syndrome with nephrotic syndrome (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Ataxia with tapetoretinal degeneration syndrome |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 38 (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
X-linked spastic paraplegia type 16 (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 13 (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 56 (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Amyotrophic lateral sclerosis type 4 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Huntington disease-like 1 (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 58 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
paraplégie spastique autosomique récessive type 70 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
paraplégie spastique autosomique dominante type 31 |
morphologie associée (attribut) |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 41 (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 42 |
morphologie associée (attribut) |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 48 (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 37 (disorder) |
morphologie associée (attribut) |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
X-linked spastic paraplegia type 34 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 5A |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 12 (disorder) |
morphologie associée (attribut) |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 19 |
morphologie associée (attribut) |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 28 |
morphologie associée (attribut) |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
paraplégie spastique autosomique type 30 |
morphologie associée (attribut) |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) |
morphologie associée (attribut) |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 15 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 35 |
morphologie associée (attribut) |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 21 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 43 (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 62 |
morphologie associée (attribut) |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia with axonal neuropathy type 1 (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia with axonal neuropathy type 1 (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Primary essential cutis verticis gyrata (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 45 (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
paraplégie spastique autosomique récessive type 67 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Sarcopenia |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
paraplégie spastique autosomique récessive type 59 |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
syndrome neurodégénératif sévère avec lipodystrophie |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
PRKAR1B-related neurodegenerative dementia with intermediate filaments |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Ferro-cerebro-cutaneous syndrome |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Fatal post-viral neurodegenerative disorder |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Stickler syndrome |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Deafmutism-retinal degeneration syndrome |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Diffuse Lewy body disease |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
3 |
Diffuse Lewy body disease |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Primary progressive cerebellar degeneration |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Neurofibrillary degeneration |
est un(e) (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
|
Angioid streaks of choroid |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Descending degeneration |
est un(e) (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
|
Dying back phenomenon |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Wilson's disease |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Wilson's disease |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Wilson's disease |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
3 |
Peripheral degeneration of cornea |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Juvenile osteochondrosis of head of metacarpals |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Aicardi's syndrome |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
maladie dégénérative du système nerveux central |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Abnormal hard tissue formation in pulp |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Iridectomy with filtering operation for glaucoma |
morphologie du site d'intervention (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Flat retinoschisis |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Juvenile osteochondrosis of carpal lunate |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Transposition of pterygium |
morphologie du site d'intervention (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Focal degeneration |
est un(e) (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
|
Granulovacuolar degeneration |
est un(e) (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
|
Posthemiplegic ataxia |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Mucoid degeneration |
est un(e) (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
|
Localized osteoarthrosis uncertain if primary OR secondary |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Azorean disease |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Azorean disease |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Azorean disease, type I |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Azorean disease, type I |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Azorean disease, type II |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Azorean disease, type II |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Azorean disease, type III |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Azorean disease, type III |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Azorean disease, type IV |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Azorean disease, type IV |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
2 |
Chronic degenerative aortic valve disease |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Circumpapillary dystrophy of choroid |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Congenital degeneration of nervous system |
morphologie associée (attribut) |
True |
Degenerative abnormality |
Inferred relationship |
Some |
1 |
Congenital retinoschisis |
morphologie associée (attribut) |
False |
Degenerative abnormality |
Inferred relationship |
Some |
2 |