Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Progressive cribriform and zosteriform hyperpigmentation |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive peripheral pterygium of right eye |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Progressive peripheral pterygium of left eye |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Bilateral progressive peripheral pterygium of eyes |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
Peripheral pterygium, progressive |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Necrobiotic xanthogranuloma |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Necrobiotic xanthogranuloma with paraproteinaemia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal dominant Robinow syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Autosomal recessive Robinow syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Bilateral Madelung deformity |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
7 |
Congenital muscular dystrophy type 1D large gene mutation |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive avascular necrosis of bilateral lunate bones |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Liver cirrhosis due to classical cystic fibrosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal dominant Emery-Dreifuss muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Mesomelic dysplasia of upper limb |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive nodular fibrosis of skin |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Porokeratosis of Mibelli |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Giant porokeratosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Cirrhosis co-occurent and due to haemochromatosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1232847388 |
Congenital cataract with ataxia and deafness syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Chronic progressive epilepsia partialis continua of childhood |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Chronic progressive epilepsia partialis continua |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Primary biliary cholangitis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Progressive cerebellar ataxia with hypogonadism |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive familial intrahepatic cholestasis type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive intrahepatic cholestasis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive familial intrahepatic cholestasis type 1 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Autosomal dominant progressive external ophthalmoplegia type 4 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Autosomal dominant progressive external ophthalmoplegia type 1 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Autosomal dominant progressive external ophthalmoplegia type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Autosomal dominant progressive external ophthalmoplegia type 5 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Autosomal dominant progressive external ophthalmoplegia type 3 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Autosomal recessive Emery-Dreifuss muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
X-linked Emery-Dreifuss muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive supranuclear palsy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Atypical progressive supranuclear palsy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Progressive supranuclear palsy corticobasal syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Progressive supranuclear palsy parkinsonism syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Progressive supranuclear palsy progressive non fluent aphasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Progressive post haemorrhagic ventricular dilatation |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Diaphyseal dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
2-methyl-3-hydroxybutyric aciduria |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Childhood-onset basal ganglia degeneration syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
MME-related autosomal dominant Charcot Marie Tooth disease type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Autosomal recessive spastic paraplegia type 76 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Adenylosuccinate synthetase-like 1-related distal myopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
POGLUT1-related limb girdle muscular dystrophy R21 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Chitty Hall Baraitser syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Pontine autosomal dominant microangiopathy with leucoencephalopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Myotonic dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Proximal myotonic myopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Congenital myotonic dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
BVES-related limb girdle muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
LIMS2-related limb girdle muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Primary hyperplasia of mandibular condyle |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive familial intrahepatic cholestasis type 3 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
ITM2B-related amyloidosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Progressive nodular histiocytosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 74 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Spastic paraplegia, severe developmental delay, epilepsy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Autosomal dominant hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
X-linked hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Pure hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Complicated hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Silver disease |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
Allan-Herndon-Dudley syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
7 |
Infantile ascending hereditary spastic paralysis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 58 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 70 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 31 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 41 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 42 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 48 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 37 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
X-linked spastic paraplegia type 34 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 5A |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 12 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 19 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 28 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal spastic paraplegia type 30 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Spastic paraplegia, neuropathy, poikiloderma syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Spastic paraplegia, facial cutaneous lesion syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 15 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |