Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Chronic progressive epilepsia partialis continua |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Primary biliary cholangitis |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Progressive cerebellar ataxia with hypogonadism |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive familial intrahepatic cholestasis type 2 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive intrahepatic cholestasis |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive familial intrahepatic cholestasis type 1 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Autosomal dominant progressive external ophthalmoplegia type 4 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Autosomal dominant progressive external ophthalmoplegia type 1 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Autosomal dominant progressive external ophthalmoplegia type 5 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Autosomal dominant progressive external ophthalmoplegia type 3 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Autosomal recessive Emery-Dreifuss muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
X-linked Emery-Dreifuss muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive supranuclear palsy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Atypical progressive supranuclear palsy syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Progressive supranuclear palsy corticobasal syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Progressive supranuclear palsy parkinsonism syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Progressive supranuclear palsy progressive non fluent aphasia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Progressive post haemorrhagic ventricular dilatation |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Diaphyseal dysplasia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
2-methyl-3-hydroxybutyric aciduria (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Childhood-onset basal ganglia degeneration syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Autosomal recessive spastic paraplegia type 76 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
POGLUT1-related limb girdle muscular dystrophy R21 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Myotonic dystrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Proximal myotonic myopathy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Congenital myotonic dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
LIMS2-related limb girdle muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Primary hyperplasia of mandibular condyle (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive familial intrahepatic cholestasis type 3 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Integral membrane protein 2B related amyloidosis (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Progressive nodular histiocytosis |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 74 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Spastic paraplegia, severe developmental delay, epilepsy syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Autosomal dominant hereditary spastic paraplegia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
X-linked hereditary spastic paraplegia (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive hereditary spastic paraplegia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Pure hereditary spastic paraplegia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Complicated hereditary spastic paraplegia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 17 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Allan-Herndon-Dudley syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
7 |
Infantile ascending hereditary spastic paralysis (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 58 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 70 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 31 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 41 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 42 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 48 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 37 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
X-linked spastic paraplegia type 34 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 5A |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 12 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 19 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 28 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal spastic paraplegia type 30 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 15 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 35 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 21 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 43 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 62 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 45 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 67 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 59 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Hereditary spastic paraplegia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
6 |
Autosomal recessive spastic paraplegia type 39 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
X-linked spastic paraplegia type 2 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
6 |
Autosomal dominant spastic paraplegia type 36 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 4 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 44 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 46 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 53 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 54 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 32 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 26 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 23 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 64 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 63 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |