Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Autosomal recessive spastic paraplegia type 28 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A rare, pure or complex form of hereditary spastic paraplegia characterised 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. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Spastic paraplegia, facial cutaneous lesion syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Intellectual disability, spasticity, ectrodactyly syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Autosomal recessive spastic paraplegia type 15 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Progressive external ophthalmoplegia, myopathy, emaciation syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Autosomal recessive spastic paraplegia type 21 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 43 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 45 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 67 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Benign nocturnal alternating hemiplegia of childhood (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive spastic paraplegia type 59 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal dominant progressive external ophthalmoplegia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Autosomal recessive progressive external ophthalmoplegia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
External ophthalmoplegia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive external ophthalmoplegia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
SPOAN and SPOAN-related disorder |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Hereditary sensory and autonomic neuropathy with spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Autosomal recessive spastic paraplegia type 39 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
Flaccid diplegia of upper limbs |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic diplegia of upper limbs (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Diplegia of lower limbs (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic monoplegia of upper limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic monoplegia of lower limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Erb Duchenne palsy with neuropraxis due to traction birth trauma (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
X-linked spastic paraplegia type 2 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Autosomal dominant spastic paraplegia type 36 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal dominant spastic paraplegia type 4 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 53 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 54 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 55 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Autosomal recessive spastic paraplegia type 57 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Functional monoparesis (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Functional paraparesis (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Functional hemiparesis (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Autosomal recessive spastic paraplegia type 32 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 26 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 23 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 64 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 63 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 61 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Spastic paraplegia with Paget disease of bone syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Autosomal recessive spastic paraplegia type 18 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal dominant spastic paraplegia type 10 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal dominant spastic paraplegia type 6 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Spastic paraplegia with precocious puberty syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Autosomal dominant spastic paraplegia type 29 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Spastic paraplegia, nephritis, deafness syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
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. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Spastic paraplegia type 7 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Fryns macrocephaly |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Worster-Drought syndrome (WDS) is a form of cerebral palsy characterised by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Brachial plexus palsy due to birth trauma (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Spastic paralysis due to intracranial birth injury |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Phrenic nerve paralysis as birth trauma (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Spastic paralysis due to birth injury |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Spastic paralysis due to spinal birth injury |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Klumpke-Déjerine paralysis as birth trauma |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Erb-Duchenne palsy as birth trauma |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Upward gaze deviation (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Monoplegia of leg dominant side as sequela of cerebrovascular disease (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Monoplegia of left dominant lower limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Monoplegia of left nondominant lower limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Monoplegia of right dominant lower limb |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Monoplegia of right nondominant lower limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic hemiplegia of left dominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spastic hemiplegia of left nondominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spastic hemiplegia of right dominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spastic hemiplegia of right nondominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of lower limb as sequela of cerebrovascular accident |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Monoplegia of left nondominant upper limb due to and following cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Monoplegia of right nondominant upper limb due to and following cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Monoplegia of arm as late effect of stroke |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Flaccid hemiplegia of left dominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Flaccid hemiplegia of left nondominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Flaccid hemiplegia of right dominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Flaccid hemiplegia of right nondominant side |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hemiplegia of left dominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hemiplegia of left nondominant side |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hemiplegia of right dominant side |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hemiplegia of right nondominant side |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of right upper limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Monoplegia of left upper limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemiplegia of nondominant side due to and following ischemic cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Hemiplegia of dominant side as sequela of ischaemic cerebrovascular accident |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Monoplegia of upper limb due to and following ischemic cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |