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 |