Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Osteoradionecrosis of external auditory canal |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neuroischaemic foot ulcer |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fluorosis |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic orbital myositis (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic inflammation of postmastoidectomy cavity |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Adhesive middle ear disease with adhesions of drum head to stapes |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic petrositis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Adhesive middle ear disease with adhesions of drum head to incus |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic arthropathy (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic osteomyelitis |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic atticoantral suppurative otitis media (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Malleus mobility reduced |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
SLE glomerulonephritis syndrome, WHO class V |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic nonsuppurative osteitis of jaw |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hemolytic anemia with emphysema AND cutis laxa (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic periostitis of jaw (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Inflammatory pseudotumor of orbit proper (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic abscess of jaw |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic mastoiditis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mycetoma of foot (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ischaemic ulcer of foot due to diabetes mellitus |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic sphenoidal sinusitis (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intermittent torticollis |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Recurrent labyrinthitis (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic bursitis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic osteitis of jaw |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Eosinophilic polymyositis |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fasciitis with eosinophilia syndrome |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fibromyositis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Eosinophilic panostitis |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic crepitant synovitis of hand and wrist |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Eosinophilic myositis (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fistula of mastoid |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Local recurrence of malignant neoplasm of bone |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Recurrent bone marrow hyperplasia |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital hypoplastic anaemia |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic osteomyelitis of sphenoid bone |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic atticoantral suppurative otitis media (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic perichondritis of pinna (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic osteomyelitis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic rupture of Achilles tendon (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sandifer syndrome (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood. |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
ostéomyélite chronique à cellules plasmatiques symétriques |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Tendinosis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Recurrent cholesteatoma of mastoid cavity (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Myofascial pain syndrome (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic musculoskeletal pain due to persistent inflammation |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic musculoskeletal pain due to disease of nervous system |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Primary fibromyalgia syndrome |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
maladie de Hand-Schüller-Christian |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Oculopharyngodistal myopathy (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Myoclonic epilepsy with ragged red fibers (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive lower motor neuron disease with childhood onset |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Elastotic nodules of antihelix |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Childhood-onset spasticity with hyperglycinemia (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene. |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Muscular dystrophy |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Osteopetrosis (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Osteosclerosis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mesomelic dysplasia |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Epiphyseal dysplasia (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Alpha-B crystallin-related late-onset myopathy (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Necrosis of ankle muscle co-occurrent and due to chronic ulcer of ankle |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Avascular necrosis of bone of ankle due to chronic ulcer of ankle (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Avascular necrosis of fibula due to chronic ulcer of calf (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Necrosis of lower leg muscle co-occurrent and due to chronic ulcer of lower leg |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Necrosis of sacral muscle co-occurrent and due to chronic ulcer of sacrum |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Necrosis of muscle of buttock co-occurrent and due to chronic ulcer of buttock (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Progressive avascular necrosis of lunate |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic sarcoid myopathy |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Progressive external ophthalmoplegia |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Benign monomelic amyotrophy |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic alcoholic myopathy (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Huntington's chorea |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
pathologie rénale chronique associée à une ostéoporose |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Renal osteodystrophy with high bone turnover |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Renal osteodystrophy with normal bone turnover (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Renal osteodystrophy with low bone turnover (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Renal osteodystrophy |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Non-traumatic acute-on-chronic slipped upper femoral epiphysis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Non-traumatic chronic slipped upper femoral epiphysis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Persistent neonatal myasthenia gravis |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Paroxysmal rhabdomyolysis (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Avascular necrosis of sacral bone due to chronic ulcer of sacrum (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Diaphyseal dysplasia (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare complex hereditary spastic paraplegia characterised by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement. |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects. |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) |
Is a |
False |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Allan-Herndon-Dudley syndrome |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia with Paget disease of bone syndrome |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Adynamic bone disease (disorder) |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Childhood-onset nemaline myopathy |
Is a |
True |
Chronic disease of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|