Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Childhood-onset nemaline myopathy |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intermediate nemaline myopathy |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery. |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant mitochondrial myopathy with exercise intolerance |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Early-onset calcifying leucoencephalopathy, skeletal dysplasia |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare glycogen storage disease characterised by slowly progressive myopathy with storage of polyglucosan in muscle fibres. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement. |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Persistent congenital anteversion of femur |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe oculo-renal-cerebellar syndrome (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mouth and genital ulcers with inflamed cartilage syndrome (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Familial gigantiform cementoma of jaw |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Langer mesomelic dysplasia syndrome |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hemifacial spasm |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Osteoporosis due to chronic kidney disease (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microphthalmia with brain atrophy syndrome (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic traumatic diaphragmatic hernia |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic primary musculoskeletal pain (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic abscess of parametrium |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic parametritis and pelvic cellulitis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic parametritis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic tophaceous gout of vertebra caused by drug (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic tophaceous gout of vertebra due to renal impairment (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic gout of vertebra without tophus caused by drug |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic gout of vertebra without tophus due to renal impairment |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|