| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Hereditary motor and sensory neuropathy with optic atrophy |
Associated morphology |
False |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Primary lacrimal atrophy |
Associated morphology |
False |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Dominant hereditary optic atrophy |
Associated morphology |
False |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Primary optic atrophy |
Associated morphology |
False |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Hereditary optic atrophy |
Associated morphology |
False |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Leber's optic atrophy |
Associated morphology |
False |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Hereditary optic atrophy NOS |
Associated morphology |
False |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Leber's optic atrophy |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Hereditary motor and sensory neuropathy with optic atrophy |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Primary optic atrophy |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Dominant hereditary optic atrophy |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Primary lacrimal atrophy |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Hereditary optic atrophy NOS |
Associated morphology |
False |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Hereditary optic atrophy |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32). |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterised by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Hereditary bilateral optic atrophy (disorder) |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Hereditary bilateral optic atrophy (disorder) |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| Hereditary right optic atrophy (disorder) |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Hereditary left optic atrophy (disorder) |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
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. |
Associated morphology |
False |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
6 |
| Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
7 |
| Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, neurodegenerative disorder characterized by an 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. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
False |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
False |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Autosomal recessive optic atrophy type 6 |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Childhood-onset autosomal dominant optic atrophy |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Primary optic atrophy of bilateral eyes (disorder) |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Primary optic atrophy of bilateral eyes (disorder) |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare hereditary optic atrophy with characteristics of early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic discs, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare hereditary optic atrophy with characteristics of early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic discs, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
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. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
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. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
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. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| X-linked optic atrophy |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Primary atrophy of left lacrimal gland (disorder) |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Primary atrophy of bilateral lacrimal glands (disorder) |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Primary atrophy of bilateral lacrimal glands (disorder) |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Primary atrophy of right lacrimal gland (disorder) |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Primary optic atrophy of left eye (disorder) |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Primary optic atrophy of right eye (disorder) |
Associated morphology |
True |
Primary atrophy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
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