Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
6 |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Osteochondrodysplasia with osteopetrosis (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Osteopetrosis - intermediate type |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Osteopetrosis with renal tubular acidosis |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
atelosteogenes eller diastrofisk dysplasi |
Clinical course |
False |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Scapuloperoneal muscular dystrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive myoclonic epilepsy type 5 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Progressive myoclonic epilepsy type 3 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2T (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Congenital muscular dystrophy due to lamin A/C mutation (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2E (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Atelosteogenesis type 1 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Atelosteogenesis type 3 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Spondyloepimetaphyseal dysplasia with multiple dislocations |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Early onset myopathy with fatal cardiomyopathy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Madelung's deformity |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Hereditary progressive muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Dentin dysplasia with sclerotic bone syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Craniometadiaphyseal dysplasia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Facioscapulohumeral muscular dystrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Congenital muscular dystrophy Paradas type (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Charcot-Marie-Tooth disease type 2P (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
osteomesopyknos |
Clinical course |
False |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Multiple epiphyseal dysplasia Lowry type (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Mesomelic dysplasia Kantaputra type (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Rhizomelic syndrome Urbach type |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Juvenile onset Huntington's disease |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant Charcot-Marie-Tooth disease type 2O |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Benign autosomal dominant osteopetrosis |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Lower motor neuron syndrome with late-adult onset (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Coxoauricular syndrome (disorder) |
Clinical course |
False |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Manifesting female carrier of X-linked muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Osteopetrosis |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Hereditary myopathy limited to females |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Finnish upper limb onset distal myopathy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Distal nebulin myopathy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Congenital muscular dystrophy with intellectual disability and severe epilepsy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Reunion-Indiana Amish type muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Multiple epiphyseal dysplasia Beighton type (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Ullrich congenital muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant limb-girdle muscular dystrophy type 1H |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Multiple epiphyseal dysplasia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Distal myopathy with posterior leg and anterior hand involvement (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal dominant muscular dystrophy with gene located at 5q31 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive myoclonic epilepsy type 8 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Muscular dystrophy with predominantly proximal limb girdle distribution |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
X-linked muscular dystrophy with limb girdle distribution |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
X-linked muscular dystrophy with abnormal dystrophin |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Intermediate X-linked muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Larsen syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Chondrodysplasia with joint dislocations gPAPP type (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
X-linked limb girdle muscular dystrophy with normal dystrophin |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Jis muskeldystrofi |
Clinical course |
False |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive muscular dystrophy with limb girdle distribution |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
svår autosomalt recessiv muskeldystrofi i barndomen, nordafrikansk typ |
Clinical course |
False |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
autosomalt recessiv muskeldystrofi med gen belägen på 15q |
Clinical course |
False |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Langer mesomelic dysplasia syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant muscular dystrophy not predominantly limb girdle |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Western type of congenital muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
autosomalt dominant muskeldystrofi i skulder-bäckengördel, typ 1C |
Clinical course |
False |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Congenital muscular dystrophy with arthrogryposis multiplex congenita |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1D (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Eichsfeld type congenital muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Hutterite type of muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Congenital muscular dystrophy with intellectual disability |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal dominant limb girdle muscular dystrophy type 1G (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Adult onset autosomal recessive muscular dystrophy with normal dystrophin |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Congenital muscular hypertrophy-cerebral syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant muscular dystrophy with limb girdle distribution |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Familial dementia British type (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
KLHL9-related early-onset distal myopathy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Late onset proximal muscular dystrophy with dysarthria |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Multiple epiphyseal dysplasia with miniepiphyses |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Cleidorhizomelic syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Muscular dystrophy not predominantly limb girdle in distribution |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
X-linked muscular dystrophy not predominantly limb girdle |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Mesomelic dysplasia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
benign skapuloperoneal muskeldystrofi med kardiomyopati |
Clinical course |
False |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Osteopetrosis hypogammaglobulinemia syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Distal anoctaminopathy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2G (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Late onset Huntington's disease |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive muscular dystrophy not predominantly limb girdle |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2K (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Scapulohumeral muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Benign scapuloperoneal muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |