| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Spasticity as sequela of stroke (disorder) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
4 |
| Congenital hypertonia |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
1 |
| Acquired hypotonia |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| Finding of shortened, hypertonic pelvic floor musculature |
Interprets |
False |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| Pelvic floor dysfunction (disorder) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
5 |
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
3 |
| A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
4 |
| A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
4 |
| Female pelvic floor dysfunction (disorder) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| Tightness of bilateral gastrocnemius muscles (finding) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
1 |
| Tightness of left gastrocnemius muscle (finding) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| Tightness of right gastrocnemius muscle (finding) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| Traumatic hypotonia (disorder) |
Interprets |
False |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
3 |
| A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
1 |
| Relaxation of pelvic floor (disorder) |
Interprets |
False |
Muscle tone (observable entity) |
Inferred relationship |
Some |
1 |
| A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
5 |
| A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
1 |
| Cystinuria, type 1 |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
3 |
| Hypotonia cystinuria syndrome (disorder) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
3 |
| A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation and minor facial dysmorphism). |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
4 |
| Benign congenital hypotonia |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| Traumatic hypotonia (disorder) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
1 |
| Relaxation of pelvic floor (disorder) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| objektivt: muskeltonus normal |
Interprets |
False |
Muscle tone (observable entity) |
Inferred relationship |
Some |
1 |
| Normal tone in skeletal muscle |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
1 |
| Hypotonic-hyporesponsive episode (finding) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
4 |
| Abdominal muscle tone |
Is a |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
|
| Finding of shortened, hypertonic pelvic floor musculature |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
3 |
| Allan-Herndon-Dudley syndrome |
Interprets |
False |
Muscle tone (observable entity) |
Inferred relationship |
Some |
6 |
| A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
5 |
| Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
4 |
| Allan-Herndon-Dudley syndrome |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
3 |
| A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
3 |
| A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
3 |
| A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
4 |
| Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
1 |
| Spastic diplegia |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
1 |
| Spastic diplegia of upper limbs (disorder) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
5 |
| A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
6 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
12 |
| A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
7 |
| A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
4 |
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
7 |
| A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| Modified Tardieu Scale quality of muscle reaction score (observable entity) |
Is a |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
|
| A rare genetic neurological syndrome with characteristics of cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
1 |
| A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
5 |
| A rare genetic neurodegenerative disease with characteristics of childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
6 |
| Rigid chest |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| Appendicular hypotonia |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| Episodic flaccidity of muscle (finding) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
3 |
| Episodic hypotonia |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
3 |
| Hypotonia of axial muscles occurring in infancy |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
3 |
| Hypotonia of muscles of mouth region (finding) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| Hypotonia of muscle of face |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
6 |
| 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
8 |
| Severe hypotonia of muscle (finding) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
2 |
| Spastic ataxia (finding) |
Interprets |
True |
Muscle tone (observable entity) |
Inferred relationship |
Some |
1 |
FHIR