Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Autosomal dominant mitochondrial myopathy with exercise intolerance |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Early-onset calcifying leucoencephalopathy, skeletal dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Polyglucosan body myopathy type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive myoclonic epilepsy type 9 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Spondyloepiphyseal dysplasia Stanescu type |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
PCNA-related progressive neurodegenerative photosensitivity syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
ALECT2 amyloidosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Corticobasal syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Megaconial congenital muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Distal hereditary motor neuropathy type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Goldmann-Favre syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Smouldering systemic mastocytosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Limb girdle muscular dystrophy due to POMK deficiency |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive macular hypomelanosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Night blindness, skeletal anomalies, dysmorphism syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
PYCR2-related microcephaly, progressive leucoencephalopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
Osteosclerotic metaphyseal dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Sorsby's fundus dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Lipoid dermatoarthritis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Spastic ataxia, dysarthria due to glutaminase deficiency |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive shortening of uterine cervix |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Amyotrophic lateral sclerosis, parkinsonism, dementia complex of Kii Peninsula |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Amyotrophic lateral sclerosis, parkinsonism, dementia complex of West New Guinea |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Juvenile Alexander disease |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Infantile Alexander disease |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Adult Alexander disease |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Autosomal dominant complex hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
6 |
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
EVEN-plus syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
Familial gigantiform cementoma of jaw |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Adult vitelliform macular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Best vitelliform macular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Acquired progressive lymphangioma |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive angina |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Acquired progressive kinking of hair |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Cirrhosis of liver due to chronic hepatitis C |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Intrahepatic phlebosclerosis and fibrosis |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
3 |
Hepatic fibrosis with hepatic sclerosis |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
3 |
Cirrhosis of liver co-occurrent and due to primary sclerosing cholangitis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
Capsular portal cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Fatty portal cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Posthepatitic cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Micronodular cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Cardiac cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Unilobular portal cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Syphilitic cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Parasitic cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Mixed micro and macronodular cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
Idiopathic copper associated cirrhosis of liver |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
6 |
Glissonian cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Nutritional cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Cirrhosis of liver caused by methotrexate |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Cirrhosis secondary to cholestasis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Infectious cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Juvenile portal cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Early cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Cryptogenic cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Florid cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Pigment cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Macronodular cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Toxic cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Cirrhosis - non-alcoholic |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Cirrhosis of liver caused by methyldopa |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Drug-induced cirrhosis of liver |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Cirrhosis of liver caused by amiodarone |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Advanced cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Primary biliary cholangitis |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
4 |
Cholangiolitic cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Portal cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Syphilitic portal cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Toxic portal cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Pigmentary portal cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Postnecrotic cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Cruveilhier-Baumgarten syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Diffuse nodular cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Multilobular portal cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Secondary biliary cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Indian childhood cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Clonorchiasis with biliary cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Cirrhosis and chronic liver disease |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
3 |
Hepatic sclerosis |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
3 |
Cirrhosis of liver due to hepatitis B |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Hypoxia-associated cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Laennec's cirrhosis, non-alcoholic |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Decompensated cirrhosis of liver |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Distal hereditary motor neuropathy type 1 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Reynolds syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Cardiac portal cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Latent cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Obstructive biliary cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Cirrhotic cardiomyopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
Biliary cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |