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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6420&ordering=synonyms",
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"results": [
{
"identifier": "Poretti-Boltshauser syndrome.",
"acronym": "PTBHS.",
"accession": "DI-04197",
"synonyms": null,
"cross_references": "MeSH; D019954.",
"definition": "An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities including strabismus, ocular apraxia, nystagmus. Affected individuals have ataxia, delayed motor development, language impairment, and intellectual disability with variable severity. ",
"keywords": null
},
{
"identifier": "Pontocerebellar hypoplasia 9.",
"acronym": "PCH9.",
"accession": "DI-04088",
"synonyms": null,
"cross_references": "MeSH; D002526.",
"definition": "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Thrombocytopenia 3.",
"acronym": "THC3.",
"accession": "DI-04981",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC3 is an autosomal recessive form characterized by onset in infancy. ",
"keywords": null
},
{
"identifier": "Premature ovarian failure 14.",
"acronym": "POF14.",
"accession": "DI-05263",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ",
"keywords": "KW-1066:Premature ovarian failure.; "
},
{
"identifier": "Pontocerebellar hypoplasia 8.",
"acronym": "PCH8.",
"accession": "DI-03633",
"synonyms": null,
"cross_references": "MeSH; D002526.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Pontocerebellar hypoplasia 7.",
"acronym": "PCH7.",
"accession": "DI-04978",
"synonyms": null,
"cross_references": "MeSH; D002526.",
"definition": "A form of pontocerebellar hypoplasia, a group of related disorders characterized by underdevelopment of the pons and the cerebellum. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size. PCH7 patients manifest delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Pontocerebellar hypoplasia 2F.",
"acronym": "PCH2F.",
"accession": "DI-04758",
"synonyms": null,
"cross_references": "MeSH; D002526.",
"definition": "A neurodevelopmental disorder characterized by progressive microcephaly, cognitive and motor delay, poor or absent speech, seizures, and spasticity. PCH2F inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 8, with dysmorphic features and developmental delay.",
"acronym": "THC8.",
"accession": "DI-06744",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC8 is an autosomal dominant form characterized by early- childhood onset of thrombocytopenia with platelet anisotropy. Affected individuals also have dysmorphic facial features and variable developmental delay with speech delay and mildly impaired intellectual development. ",
"keywords": null
},
{
"identifier": "Pontocerebellar hypoplasia 2C.",
"acronym": "PCH2C.",
"accession": "DI-02178",
"synonyms": null,
"cross_references": "MeSH; D002526.",
"definition": "A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Pontocerebellar hypoplasia 2B.",
"acronym": "PCH2B.",
"accession": "DI-02177",
"synonyms": null,
"cross_references": "MeSH; D002526.",
"definition": "A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Thrombocytopenia, anemia, and myelofibrosis.",
"acronym": "THAMY.",
"accession": "DI-04987",
"synonyms": null,
"cross_references": "MeSH; D055728.",
"definition": "An autosomal recessive disorder characterized by thrombocytopenia, increased number of giant platelets, and anemia manifesting in early childhood. Bone marrow biopsy shows increased number of megakaryocytes and reticular fibrosis consistent with myelofibrosis. ",
"keywords": null
},
{
"identifier": "Pontocerebellar hypoplasia 1F.",
"acronym": "PCH1F.",
"accession": "DI-06093",
"synonyms": null,
"cross_references": "MeSH; D002526.",
"definition": "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH1F is an autosomal recessive form characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features. Brain imaging shows pontocerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and delayed myelination. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Thrombophilia 13, X-linked, due to factor VIII defect.",
"acronym": "THPH13.",
"accession": "DI-06326",
"synonyms": null,
"cross_references": "MeSH; D019851.",
"definition": "An X-linked dominant, hemostatic disorder associated with markedly elevated F8 levels, and characterized by severe thrombophilia. ",
"keywords": "KW-0792:Thrombophilia.; "
},
{
"identifier": "Pontocerebellar hypoplasia 1E.",
"acronym": "PCH1E.",
"accession": "DI-06092",
"synonyms": null,
"cross_references": "MeSH; D002526.",
"definition": "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH1E is an autosomal recessive form characterized by severe hypotonia and respiratory insufficiency apparent soon after birth. Additional features may include optic atrophy, peripheral neuropathy, dysmorphic features, congenital contracture or foot deformities, and seizures. Death occurs in the first days or weeks of life. Postmortem brain imaging show pontocerebellar atrophy and loss of anterior motor neurons in the spinal cord. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Pontocerebellar hypoplasia 1C.",
"acronym": "PCH1C.",
"accession": "DI-04273",
"synonyms": null,
"cross_references": "MeSH; D002526.",
"definition": "A severe autosomal recessive neurodegenerative disease characterized by cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system, and spinal motor neuron disease. Affected individuals manifest failure to thrive, severe muscle weakness, spasticity and psychomotor retardation. Vision and hearing are impaired. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Thrombophilia due to histidine-rich glycoprotein deficiency.",
"acronym": "THPH11.",
"accession": "DI-02525",
"synonyms": null,
"cross_references": "MeSH; D019851.",
"definition": "A hemostatic disorder characterized by a tendency to thrombosis. ",
"keywords": "KW-0792:Thrombophilia.; "
},
{
"identifier": "Pontocerebellar hypoplasia 1B.",
"acronym": "PCH1B.",
"accession": "DI-03477",
"synonyms": null,
"cross_references": "MeSH; D002526.",
"definition": "A severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Pontocerebellar hypoplasia 16.",
"acronym": "PCH16.",
"accession": "DI-06227",
"synonyms": null,
"cross_references": "MeSH; D002526.",
"definition": "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH16 is an autosomal recessive, severe form characterized by hypotonia and severe global developmental delay apparent from early infancy. Other features may include stereotypic movements, spasticity, and progressive microcephaly. ",
"keywords": null
},
{
"identifier": "Pontocerebellar hypoplasia 15.",
"acronym": "PCH15.",
"accession": "DI-06088",
"synonyms": null,
"cross_references": "MeSH; D002526.",
"definition": "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH15 is a severe autosomal recessive form characterized by progressive microcephaly, and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Thrombophilia due to protein S deficiency, autosomal recessive.",
"acronym": "THPH6.",
"accession": "DI-03365",
"synonyms": null,
"cross_references": "MeSH; D018455.",
"definition": "A very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage. ",
"keywords": "KW-0792:Thrombophilia.; "
}
]
}