| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Bilateral shoulder osteoarthritis |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| A condition characterized by loss of skeletal muscle mass, primarily in the elderly but can be associated with other conditions that are not exclusively seen in older people. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A very rare complex hereditary spastic paraplegia with characteristics of 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. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare genetic neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| A rare genetic neurodegenerative disease with characteristics of dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioural changes including apathy, anxiety and delusions. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrhoeic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare neuroinflammatory disease characterised by the onset of ataxia, dysarthria and cerebral white matter changes that are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and eventually, death) is observed in the absence of haematopathology, cytokine overproduction, fever, hypertriglyceridaemia, hypofibrinogenaemia and hyperferritinemia. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Spondylosis of cervicothoracic spine |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Spondylosis of cervicothoracic spine |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Spondylosis of thoracolumbar spine (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare complex spastic paraplegia with characteristics of 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. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare genetic complex hereditary spastic paraplegia disorder with characteristics of 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. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| A rare pure or complex hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Primary non-essential cutis verticis gyrata (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Osteoarthritis of bilateral knee joints (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Osteoarthritis of bilateral knee joints (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Osteoarthritis of finger joint of right hand (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Osteoarthritis of joint of bilateral feet (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Osteoarthritis of joint of bilateral feet (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Osteoarthritis of joint of bilateral hands (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Osteoarthritis of joint of bilateral hands (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Osteoarthritis of finger joint of left hand (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Osteoarthritis of bilateral hip joints |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Osteoarthritis of bilateral hip joints |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Osteoarthritis of joint of finger of bilateral hands (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Osteoarthritis of joint of finger of bilateral hands (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Osteoarthritis of joint of bilateral ankles (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Osteoarthritis of joint of bilateral ankles (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Tendinosis of bilateral biceps brachii (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Tendinosis of bilateral biceps brachii (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Tendinosis of right knee (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Tendinosis of bilateral knees (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Tendinosis of bilateral knees (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Tendinosis of left knee (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Juvenile osteochondrosis of thoracic spine (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Juvenile osteochondrosis of thoracic spine (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Seropositive erosive rheumatoid arthritis (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
3 |
| Degenerative disorder of muscle |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| An extremely rare autosomal recessive hereditary cerebellar ataxia disorder with characteristics of early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| An extremely rare autosomal recessive hereditary cerebellar ataxia disorder with characteristics of early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Autosomal recessive spastic paraplegia type 71 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare genetic neurodegenerative disease characterised by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioural problems. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Autosomal spastic paraplegia type 72 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and in some mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare hereditary ataxia with characteristics of progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, and spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Caused by homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| A rare hereditary ataxia with characteristics of progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, and spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Caused by homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype. Typical characteristics include childhood-onset of minimally progressive bilateral mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy. Caused by heterozygous mutation in the ATL1 gene on chromosome 14q22. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Circumferential viscodilation and tensioning of sinus venosus of sclera by external approach |
Procedure morphology (attribute) |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare complex hereditary spastic paraplegia with characteristics of adulthood onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalised tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Leigh syndrome with nephrotic syndrome |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Infectious crystalline keratopathy |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare form of hereditary spastic paraplegia with characteristics of delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated. Caused by homozygous or compound heterozygous mutation in the CYP2U1 gene on chromosome 4q25. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Age-related changes in ciliary body |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare genetic human prion disease characterised by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioural disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalised spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (for example horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Caused by homozygous or compound heterozygous mutation in the ANO10 gene on chromosome 3p22. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (for example horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Caused by homozygous or compound heterozygous mutation in the ANO10 gene on chromosome 3p22. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Thoracic spondylosis (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Thoracic spondylosis with radiculopathy |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Single-level thoracic spondylosis with radiculopathy |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Two-level thoracic spondylosis with radiculopathy |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Multiple-level thoracic spondylosis with radiculopathy |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| A very rare pure form of spastic paraplegia with characteristics of onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A pure or complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (such as mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated. Caused by heterozygous mutation in the WASHC5 gene on chromosome 8q24. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Paving stone retinal degeneration of right eye (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Bilateral paving stone retinal degeneration |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Bilateral paving stone retinal degeneration |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Paving stone retinal degeneration of left eye (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Synucleinopathy |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Pigmentary iris degeneration of bilateral eyes |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Pigmentary iris degeneration of bilateral eyes |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Bilateral arcus senilis |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Dellen of cornea of right eye |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Dellen of cornea of left eye (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Osteoarthritis of bilateral sternoclavicular joints (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Osteoarthritis of bilateral sternoclavicular joints (disorder) |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Bilateral osteoarthritis of temporomandibular joints |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Bilateral osteoarthritis of temporomandibular joints |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare genetic systemic disease with the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A rare hereditary ataxia with characteristics of simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Single-level thoracic spondylosis with myelopathy |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| A complex hereditary spastic paraplegia with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Two-level thoracic spondylosis with myelopathy |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
3 |
| Multiple-level thoracic spondylosis with myelopathy |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
3 |
| Vitreoretinal tuft of right eye |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| Vitreoretinal tuft of left eye |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
| A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
3 |
| A complex hereditary spastic paraplegia with characteristics of delayed motor development, spasticity and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
1 |
| Bilateral arcus senilis |
Associated morphology |
False |
Degeneration |
Inferred relationship |
Some |
2 |
FHIR