Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Sorsby pseudoinflammatory fundus dystrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Lipoid dermatoarthritis |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive shortening of uterine cervix |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Amyotrophic lateral sclerosis, parkinsonism, dementia complex of Kii Peninsula (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Amyotrophic lateral sclerosis, parkinsonism, dementia complex of West New Guinea (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Alexander disease juvenile form |
Clinical course |
False |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Alexander disease type I (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Alexander disease adult form |
Clinical course |
False |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Autosomal dominant complex hereditary spastic paraplegia (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
6 |
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Familial gigantiform cementoma of jaw (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Adult vitelliform macular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Best vitelliform macular dystrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Benign monomelic amyotrophy of lower limb (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Benign monomelic amyotrophy of upper limb (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant osteopetrosis type 1 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Birnbaum's syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Fish-eye disease |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Chronic progressive non-hereditary chorea |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Progressive internal resorption of tooth caused by bacteria (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Friedreich ataxia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 46 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 45 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Calpain-3-related limb girdle muscular dystrophy D4 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Multiple mitochondrial dysfunctions syndrome type 5 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Multiple mitochondrial dysfunctions syndrome type 6 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Hemifacial spasm |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Clonic hemifacial spasm |
Clinical course |
False |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Hemifacial spasm of right facial nerve |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Hemifacial spasm of left facial nerve |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Bilateral hemifacial spasm |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Dystonia 28 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
6 |
Progressive familial intrahepatic cholestasis type 4 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Essential iris atrophy of bilateral eyes (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Essential iris atrophy of right eye (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Essential iris atrophy of left eye (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Sorsby pseudoinflammatory fundus dystrophy of right eye (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Sorsby pseudoinflammatory fundus dystrophy of left eye (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Sorsby pseudoinflammatory fundus dystrophy of bilateral eyes (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
O'Sullivan McLeod syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Congenital pontocerebellar hypoplasia type 14 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
7 |
Mitchell syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Microphthalmia with brain atrophy syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
6 |
Acquired progressive esotropia due to high myopia (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
11 |
Alexander disease type II |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Corticobasal degeneration |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Juvenile Parkinson's disease |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Orthostatic hypotension co-occurrent and due to Parkinson's disease (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Atypical Parkinsonism (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Sporadic Parkinson disease (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Atypical juvenile parkinsonism (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Young onset Parkinson disease (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Early onset parkinsonism and intellectual disability syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
6 |
Autosomal dominant late onset Parkinson disease (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Multiple system atrophy, Parkinson variant (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Parkinson's disease |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Psychosis co-occurrent and due to Parkinson's disease (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Autosomal recessive familial Parkinson disease |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Off-periods in Parkinson disease not responding to oral treatment |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Werdnig-Hoffmann disease |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Adult spinal muscular atrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Kugelberg-Welander disease |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Spinal muscular atrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Spinal muscular atrophy, type II |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive bulbar palsy of childhood |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Distal spinal muscular atrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Scapuloperoneal spinal muscular atrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Facioscapulohumeral spinal muscular atrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Facioscapulohumeral spinal muscular atrophy with sensory loss |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Scapulohumeral spinal muscular atrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Oculopharyngeal spinal muscular atrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Bulbospinal neuronopathy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Spinal muscular atrophy with respiratory distress type 2 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Spinal atrophy, ophthalmoplegia, pyramidal syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Autosomal dominant congenital benign spinal muscular atrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
X-linked distal spinal muscular atrophy type 3 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
X-linked distal arthrogryposis multiplex congenita (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
6 |
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive external ophthalmoplegia of left eye (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Right progressive external ophthalmoplegia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Posterior cord syndrome due to Friedreich ataxia (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Intermediate collagen VI-related muscular dystrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Concato's disease |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |