Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Spastic paraplegia type 15 |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A complex hereditary spastic paraplegia characterised 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. |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 39 |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary sensory and autonomic neuropathy with spastic paraplegia |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant spastic paraplegia type 36 |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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. |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterised 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. |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 53 (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 54 (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 57 |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 55 (disorder) |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 32 (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 26 (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 23 |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 64 (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 63 (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 61 |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia with Paget disease of bone syndrome |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 18 (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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. |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia with precocious puberty syndrome |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant spastic paraplegia type 29 |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia, facial cutaneous lesion syndrome |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 15 (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 21 |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 43 (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 67 (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 58 |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 70 (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 59 |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe intellectual disability and progressive spastic paraplegia |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
MT-ATP6-related mitochondrial spastic paraplegia |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 69 |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability. |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging. |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 14 |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked spastic paraplegia type 16 (disorder) |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant spastic paraplegia type 38 |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
SPOAN and SPOAN-related disorder |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked complex hereditary spastic paraplegia |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
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 |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 78 (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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. |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant spastic paraplegia type 17 (disorder) |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant spastic paraplegia type 9A |
Is a |
False |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic paraplegia type 75 |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant complex hereditary spastic paraplegia (disorder) |
Is a |
True |
Complicated hereditary spastic paraplegia (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|