Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Young adult-onset distal hereditary motor neuropathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2Q |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Severe neurodegenerative syndrome with lipodystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Childhood-onset spasticity with hyperglycinaemia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Progressive retinal dystrophy due to retinol transport defect |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
X-linked myopathy with postural muscle atrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Fatal post-viral neurodegenerative disorder |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Mills syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Hyperphosphatasaemia tarda |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
Multiple epiphyseal dysplasia Al-Gazali type |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Pyknodysostosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Osteopetrosis - delayed type |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Infantile malignant osteopetrosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Sclerosteosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Muscle eye brain disease with bilateral multicystic leukodystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
6 |
Progressive myoclonic epilepsy type 6 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Adult-onset autosomal recessive cerebellar ataxia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Axial osteosclerosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
Laing early-onset distal myopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 8 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Thoracic dysplasia and hydrocephalus syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Endosteal hyperostoses |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Distal myopathy with anterior tibial onset |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Endosteal hyperostoses with cerebellar hypoplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Dysplasia of head of femur Meyer type |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Oculopharyngeal muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal recessive limb girdle muscular dystrophy type 2D |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2A |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2P |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2J |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Huntington's chorea |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2Q |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2O |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2L |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2N |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2M |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Congenital muscular dystrophy with hyperlaxity |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal dominant osteopetrosis type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Infantile osteopetrosis with neuroaxonal dysplasia syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Pelvic muscular dystrophy |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Autosomal dominant adult-onset proximal spinal muscular atrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Distal muscular dystrophy with juvenile onset |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Dyschondrosteosis and nephritis syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Tibial muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Alpha-B crystallin-related late-onset myopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Gemignani syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Distal myopathy Welander type |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Severe childhood autosomal recessive muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
General paresis - neurosyphilis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal recessive limb girdle muscular dystrophy type 2S |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Boomerang dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Autosomal recessive limb girdle muscular dystrophy type 2R |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
Atelosteogenesis type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Becker muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Osteosclerosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
ADan amyloidosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Nievergelt's syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Pseudodiastrophic dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Akinetic-rigid form of Huntington's disease |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Short stature homeobox related short stature |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Hydrocalycosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Wolcott-Rallison dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Lenz-Majewski hyperostosis syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Atelosteogenesis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Mesomelic dysplasia Savarirayan type |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Multiple epiphyseal dysplasia due to collagen 9 anomaly |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Epiphyseal dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Worth disease |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Lethal Larsen-like syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Erb's muscular dystrophy |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
X-linked scapuloperoneal muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Craniometadiaphyseal dysplasia wormian bone type |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Colobomatous microphthalmia, rhizomelic dysplasia syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Progressive avascular necrosis of lunate |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Muscular dystrophy-deafmutism syndrome |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
Congenital muscular dystrophy type 1A |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Congenital hereditary muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Congenital muscular dystrophy type 1B |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2U |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Lowry Wood syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Fukuyama congenital muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Amyotrophic lateral sclerosis type 4 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
6 |
Merosin deficient congenital muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Walker-Warburg congenital muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Muscle-eye-brain disease, congenital muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Distal muscular dystrophy, Miyoshi type |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Multiple epiphyseal dysplasia type 4 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Steinert myotonic dystrophy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |