| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive muscular dystrophy with gene located at 15q |
Is a |
False |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy |
Is a |
False |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| Hutterite type of muscular dystrophy |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder) |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| Severe childhood autosomal recessive muscular dystrophy |
Is a |
False |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuro-psychomotor development is usually normal. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| dystrophie musculaire des ceintures autosomique dominante type 1B |
Is a |
False |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of limb-girdle muscular dystrophy characterized by slowly progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability). |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| dystrophie musculaire des ceintures autosomique récessive type 2R |
Is a |
False |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| Reunion-Indiana Amish type muscular dystrophy |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| LIMS2-related limb girdle muscular dystrophy |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal recessive limb-girdle muscular dystrophy characterized by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase. |
Is a |
True |
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
Inferred relationship |
Some |
|
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]