| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Dipygus |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Gastrothoracopagus dipygus (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
5 |
| Sirenomelus (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| X-ray tomography of lower limb (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| Paraplegia, brachydactyly, cone-shaped epiphysis syndrome |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| Gastrothoracopagus dipygus (disorder) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Problem of lower limb (finding) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Functional paraparesis (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| X-linked hereditary spastic paraplegia (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia, reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| A rare disorder characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents. |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disc herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
| Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
5 |
| Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
5 |
| Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
9 |
| Flaccid monoplegia of lower limb (disorder) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Monoplegia of lower limb due to and following cerebrovascular accident (disorder) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Paraplegia due to and following cerebrovascular accident (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Autosomal dominant hereditary spastic paraplegia |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Absence of lower limb due to diabetes mellitus (disorder) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Complex burn of lower limb (disorder) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| X-linked hereditary spastic paraplegia (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A rare, pure or complex form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia, parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia, reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disc herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Normal lower limb movement and sensation and circulation (finding) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Complicated hereditary spastic paraplegia |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Acquired unequal leg length |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (including tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977. |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A complex hereditary spastic paraplegia characterised by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy is typical. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Dipygus |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Painful and cold lower limb |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Needle stick injury of thigh |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Needle stick injury of knee |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Needle stick injury of lower leg |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Needle stick injury of calf |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Needle stick injury of ankle |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Needle stick injury of buttock |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Needle stick injury of hip |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| MRI of pelvis and lower extremity |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Computed tomography of abdomen, pelvis and lower limb (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| CT of pelvis and lower limb |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| CT of abdomen, pelvis and lower limb with contrast |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| A rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare complex hereditary spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
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