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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6540&ordering=synonyms",
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"results": [
{
"identifier": "Paroxysmal nocturnal hemoglobinuria 2.",
"acronym": "PNH2.",
"accession": "DI-03876",
"synonyms": null,
"cross_references": "MeSH; D006457.",
"definition": "A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. ",
"keywords": null
},
{
"identifier": "Paroxysmal nocturnal hemoglobinuria 1.",
"acronym": "PNH1.",
"accession": "DI-02141",
"synonyms": null,
"cross_references": "MeSH; D006457.",
"definition": "A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. ",
"keywords": null
},
{
"identifier": "Parkinsonism-dystonia 3, childhood-onset.",
"acronym": "PKDYS3.",
"accession": "DI-06334",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "An autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances. ",
"keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Parkinsonism with spasticity, X-linked.",
"acronym": "XPDS.",
"accession": "DI-03948",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinsonism with polyneuropathy.",
"acronym": "PKNPY.",
"accession": "DI-06084",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "An autosomal dominant disorder characterized by late-onset, levodopa- responsive parkinsonism with asymmetric tremor, rigidity and bradykinesia. Patients also manifest a sensorimotor polyneuropathy with variable degrees of distal legs and hands muscle atrophy and weakness, and absent deep tendon reflexes. ",
"keywords": "KW-0622:Neuropathy.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Spermatogenic failure 37.",
"acronym": "SPGF37.",
"accession": "DI-05556",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities, primarily consisting of short or absent flagella, and neck defects at the head-tail junction. ",
"keywords": null
},
{
"identifier": "Parkinson disease 8.",
"acronym": "PARK8.",
"accession": "DI-02136",
"synonyms": null,
"cross_references": "MeSH; D010300.",
"definition": "A slowly progressive neurodegenerative disorder characterized by bradykinesia, rigidity, resting tremor, postural instability, neuronal loss in the substantia nigra, and the presence of neurofibrillary MAPT (tau)-positive and Lewy bodies in some patients. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development.",
"acronym": "PARK25.",
"accession": "DI-06748",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "An autosomal recessive, early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK25 is characterized by onset of parkinsonism in late childhood or adolescence, developmental delay and intellectual disability. Cognitive impairment is mild to moderate and non- progressive. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Parkinson disease 24, autosomal dominant.",
"acronym": "PARK24.",
"accession": "DI-06202",
"synonyms": null,
"cross_references": "MeSH; D010300.",
"definition": "An autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK24 shows incomplete penetrance. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 23, autosomal recessive, early onset.",
"acronym": "PARK23.",
"accession": "DI-04668",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "An autosomal recessive, early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 21.",
"acronym": "PARK21.",
"accession": "DI-04425",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "An autosomal dominant form of adult-onset Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 20, early-onset.",
"acronym": "PARK20.",
"accession": "DI-03964",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK20 is characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 19B, early-onset.",
"acronym": "PARK19B.",
"accession": "DI-04813",
"synonyms": null,
"cross_references": "MeSH; D010300.",
"definition": "An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK19B is characterized by symptoms onset in the third-to-fifth decade, slow disease progression, and prominent. response to dopaminergic therapies. Inheritance is autosomal recessive. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 17.",
"acronym": "PARK17.",
"accession": "DI-03242",
"synonyms": null,
"cross_references": "MeSH; D010300.",
"definition": "An autosomal dominant, adult-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Ullrich congenital muscular dystrophy 1B.",
"acronym": "UCMD1B.",
"accession": "DI-06835",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Ullrich congenital muscular dystrophy 1C.",
"acronym": "UCMD1C.",
"accession": "DI-06836",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Ullrich congenital muscular dystrophy 2.",
"acronym": "UCMD2.",
"accession": "DI-04486",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. UCMD2 is a severe, autosomal recessive form with onset at birth. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Ulnar-mammary syndrome.",
"acronym": "UMS.",
"accession": "DI-02404",
"synonyms": null,
"cross_references": "MedGen; C1866994.",
"definition": "Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands. ",
"keywords": null
},
{
"identifier": "Parkinson disease 13.",
"acronym": "PARK13.",
"accession": "DI-02138",
"synonyms": null,
"cross_references": "MeSH; D010300.",
"definition": "A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Uncombable hair syndrome 2.",
"acronym": "UHS2.",
"accession": "DI-04896",
"synonyms": null,
"cross_references": "MeSH; D006201.",
"definition": "A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age. ",
"keywords": null
}
]
}