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"count": 6723,
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{
"identifier": "Retinitis pigmentosa 56.",
"acronym": "RP56.",
"accession": "DI-02907",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Retinitis pigmentosa 55.",
"acronym": "RP55.",
"accession": "DI-02896",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Spastic paraplegia 26, autosomal recessive.",
"acronym": "SPG26.",
"accession": "DI-03866",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG26 is a complicated form characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 28, autosomal recessive.",
"acronym": "SPG28.",
"accession": "DI-03678",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG28 patients also have distal sensory impairment. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Retinitis pigmentosa 54.",
"acronym": "RP54.",
"accession": "DI-02708",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Spastic paraplegia 30.",
"acronym": "SPG30.",
"accession": "DI-03243",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG30 patients have a pure form of the disorder, limited to spastic paraplegia, whereas others may have a complicated form that includes additional features such as cognitive dysfunction, learning disabilities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 31, autosomal dominant.",
"acronym": "SPG31.",
"accession": "DI-01040",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 33, autosomal dominant.",
"acronym": "SPG33.",
"accession": "DI-01041",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Retinitis pigmentosa 53.",
"acronym": "RP53.",
"accession": "DI-02918",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP53 inheritance is autosomal dominant or autosomal recessive. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Retinitis pigmentosa 51.",
"acronym": "RP51.",
"accession": "DI-02707",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Retinitis pigmentosa 49.",
"acronym": "RP49.",
"accession": "DI-03002",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Spastic paraplegia 42, autosomal dominant.",
"acronym": "SPG42.",
"accession": "DI-01042",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 43, autosomal recessive.",
"acronym": "SPG43.",
"accession": "DI-03971",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 44, autosomal recessive.",
"acronym": "SPG44.",
"accession": "DI-02587",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 45, autosomal recessive.",
"acronym": "SPG45.",
"accession": "DI-04024",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG45 patients manifest intellectual disability, contractures and learning disability. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 46, autosomal recessive.",
"acronym": "SPG46.",
"accession": "DI-03745",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Retinitis pigmentosa 48.",
"acronym": "RP48.",
"accession": "DI-03035",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Spastic paraplegia 48, autosomal recessive.",
"acronym": "SPG48.",
"accession": "DI-02933",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Retinitis pigmentosa 47.",
"acronym": "RP47.",
"accession": "DI-03034",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Spastic paraplegia 50, autosomal recessive.",
"acronym": "SPG50.",
"accession": "DI-02560",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG50 affected individuals present postnatally with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking and severe intellectual disability. They develop progressive spasticity of all limbs with generalized hypertonia, hyperreflexia, and extensor plantar responses by the end of the first year of life. Speech is absent or limited. Pseudobulbar signs, such as drooling, stereotypic laughter, and exaggerated jaw jerk, are part of the clinical picture. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
}
]
}