| 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 |