| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Chronic progressive epilepsia partialis continua |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Primary biliary cholangitis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
5 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Progressive cerebellar ataxia with hypogonadism |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Progressive familial intrahepatic cholestasis type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Progressive intrahepatic cholestasis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Progressive familial intrahepatic cholestasis type 1 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal dominant progressive external ophthalmoplegia type 4 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal dominant progressive external ophthalmoplegia type 1 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal dominant progressive external ophthalmoplegia type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal dominant progressive external ophthalmoplegia type 5 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal dominant progressive external ophthalmoplegia type 3 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal recessive Emery-Dreifuss muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| X-linked Emery-Dreifuss muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Progressive supranuclear palsy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Atypical progressive supranuclear palsy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Progressive supranuclear palsy corticobasal syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Progressive supranuclear palsy parkinsonism syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Progressive supranuclear palsy progressive non fluent aphasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Progressive post hemorrhagic ventricular dilatation |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Diaphyseal dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| 2-methyl-3-hydroxybutyric aciduria |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Childhood-onset basal ganglia degeneration syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Autosomal recessive spastic paraplegia type 76 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Adenylosuccinate synthetase-like 1-related distal myopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Deafness with epiphyseal dysplasia and short stature syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
5 |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Pontine autosomal dominant microangiopathy with leukoencephalopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Myotonic dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Proximal myotonic myopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital myotonic dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Blood vessel epicardial substance related limb girdle muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| LIM zinc finger domain containing 2-related limb girdle muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Primary hyperplasia of mandibular condyle |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Progressive familial intrahepatic cholestasis type 3 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Integral membrane protein 2B related amyloidosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Progressive nodular histiocytosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive spastic paraplegia type 74 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Spastic paraplegia, severe developmental delay, epilepsy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal dominant hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| X-linked hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Pure hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Complicated hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal dominant spastic paraplegia type 17 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
5 |
| Monocarboxylate transporter 8 deficiency |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
7 |
| Infantile ascending hereditary spastic paralysis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 58 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 70 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal dominant spastic paraplegia type 31 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal dominant spastic paraplegia type 41 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal dominant spastic paraplegia type 42 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 48 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal dominant spastic paraplegia type 37 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked spastic paraplegia type 34 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 5A |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal dominant spastic paraplegia type 12 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal dominant spastic paraplegia type 19 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 28 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal spastic paraplegia type 30 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Spastic paraplegia, neuropathy, poikiloderma syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Spastic paraplegia, facial cutaneous lesion syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 15 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 35 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive spastic paraplegia type 21 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 43 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 62 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive spastic paraplegia type 45 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive spastic paraplegia type 67 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 59 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
6 |
| Autosomal recessive spastic paraplegia type 39 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked spastic paraplegia type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
6 |
| Autosomal dominant spastic paraplegia type 36 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal dominant spastic paraplegia type 4 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 44 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 46 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 53 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 54 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 32 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 26 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 23 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 64 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 63 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |