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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6060&ordering=synonyms",
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{
"identifier": "Spastic paraplegia 90B, autosomal recessive.",
"acronym": "SPG90B.",
"accession": "DI-06703",
"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 weakness and stiffness may spread to other parts of the body. SPG90B is an autosomal recessive form characterized by motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia.",
"acronym": "SPG91.",
"accession": "DI-06776",
"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. SPG91 is an autosomal dominant form characterized by gait abnormalities, sometimes associated with cerebellar ataxia. Additional features may include sensory abnormalities, peripheral neuropathy, optic neuropathy, developmental delay, impaired intellectual development, and seizures. Most patients have symptoms onset in the first decade of life, although age at onset is highly variable and ranges from birth to young adulthood. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Retinitis pigmentosa 42.",
"acronym": "RP42.",
"accession": "DI-02473",
"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 9B, autosomal recessive.",
"acronym": "SPG9B.",
"accession": "DI-04557",
"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. SPG9B is a complex form characterized by delayed psychomotor development, intellectual disability, and severe motor impairment. Dysmorphic facial features, tremor, and urinary incontinence are variably observed in SPG9B patients. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia and psychomotor retardation with or without seizures.",
"acronym": "SPPRS.",
"accession": "DI-04637",
"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. SPPRS is an autosomal recessive neurodevelopmental disorder manifesting in infancy. Affected individuals show hypotonia and psychomotor retardation. Most develop seizures. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia, intellectual disability, nystagmus, and obesity.",
"acronym": "SINO.",
"accession": "DI-04932",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant syndrome characterized by rapid growth in infancy, obesity, global developmental delay, intellectual disability, spastic paraplegia, ocular defects, and dysmorphic facial features. ",
"keywords": "KW-0550:Obesity.; KW-0890:Hereditary spastic paraplegia.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Spastic paraplegia, optic atrophy, and neuropathy.",
"acronym": "SPOAN.",
"accession": "DI-04659",
"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. SPOAN is characterized by spastic paraplegia with progressive joint contractures and spine deformities, loss of independent ambulation by age 10 years, sub-normal vision secondary to congenital optic atrophy, and neuropathy. Inheritance is autosomal recessive. ",
"keywords": "KW-0622:Neuropathy.; KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Retinitis pigmentosa 40.",
"acronym": "RP40.",
"accession": "DI-03031",
"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 tetraplegia, thin corpus callosum, and progressive microcephaly.",
"acronym": "SPATCCM.",
"accession": "DI-04580",
"synonyms": null,
"cross_references": "MeSH; D012640.",
"definition": "A neurodevelopmental disorder characterized by thin corpus callosum, severe progressive microcephaly, severe intellectual disability, seizures, spasticity, and global developmental delay. Most patients are unable to achieve independent walking or speech. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Spasticity, childhood-onset, with hyperglycinemia.",
"acronym": "SPAHGC.",
"accession": "DI-04680",
"synonyms": null,
"cross_references": "MeSH; D020158.",
"definition": "An autosomal recessive disorder characterized by childhood-onset of spasticity, spinal lesions, leukodystrophy, optic atrophy in some patients, non-ketotic hyperglycinemia, and defective enzymatic glycine cleavage. Glycine levels in the cerebrospinal fluid are mildly increased in some but not all patients. The increase is less pronounced than in patients with classic non-ketotic hyperglycinemia. ",
"keywords": null
},
{
"identifier": "Specific granule deficiency 1.",
"acronym": "SGD1.",
"accession": "DI-04999",
"synonyms": null,
"cross_references": "MeSH; D007960.",
"definition": "An immunologic disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. Neutrophils of affected individuals lack lactoferrin and show abnormal nuclear segmentation, bilobed nuclei, low alkaline phosphatase, and increased number of neutrophil mitochondria and ribosomes. SGD1 inheritance can be autosomal dominant or recessive. ",
"keywords": null
},
{
"identifier": "Specific granule deficiency 2.",
"acronym": "SGD2.",
"accession": "DI-05000",
"synonyms": null,
"cross_references": "MeSH; D007960.",
"definition": "A form of specific granule deficiency, an autosomal recessive disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. SGD2 is due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 88.",
"acronym": "SPGF88.",
"accession": "DI-06781",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia due to primary spermatogenic arrest. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 4.",
"acronym": "RP4.",
"accession": "DI-00974",
"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 39.",
"acronym": "RP39.",
"accession": "DI-00994",
"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": "Spermatogenic failure 11.",
"acronym": "SPGF11.",
"accession": "DI-03655",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Oligozoospermia is usually observed in SPGF11 patients. In addition to oligozoospermia, teratozoospermia and moderate asthenozoospermia is observed in some cases. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 12.",
"acronym": "SPGF12.",
"accession": "DI-03877",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Non-obstructive azoospermia, oligozoospermia and oligo-astheno-teratozoospermia are features observed in SPGF12 patients. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 13.",
"acronym": "SPGF13.",
"accession": "DI-04119",
"synonyms": null,
"cross_references": "MeSH; D053713.",
"definition": "A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 14.",
"acronym": "SPGF14.",
"accession": "DI-04124",
"synonyms": null,
"cross_references": "MeSH; D053713.",
"definition": "A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. ",
"keywords": null
},
{
"identifier": "Sacral defect with anterior meningocele.",
"acronym": "SDAM.",
"accession": "DI-02277",
"synonyms": null,
"cross_references": "MedGen; C1838569.",
"definition": "Form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant. ",
"keywords": null
}
]
}