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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5460",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5420",
"results": [
{
"identifier": "Premature ovarian failure 9.",
"acronym": "POF9.",
"accession": "DI-04070",
"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": "Prieto syndrome.",
"acronym": "PRS.",
"accession": "DI-06804",
"synonyms": "MRXS2.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked recessive disorder characterized by impaired intellectual development, developmental delay, autism spectrum disorder, variable epilepsy, craniofacial dysmorphism, and structural brain abnormalities including polymicrogyria and cerebral atrophy. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Primary aldosteronism, seizures, and neurologic abnormalities.",
"acronym": "PASNA.",
"accession": "DI-03908",
"synonyms": null,
"cross_references": "MeSH; D012640.",
"definition": "A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Primary erythermalgia.",
"acronym": "PERYTHM.",
"accession": "DI-02201",
"synonyms": null,
"cross_references": "MedGen; C3276706.",
"definition": "Autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands. ",
"keywords": null
},
{
"identifier": "Primary failure of tooth eruption.",
"acronym": "PFE.",
"accession": "DI-02202",
"synonyms": "Dental non-eruption.; Familial posterior openbite malocclusion.; Non-syndromic primary failure of eruption.; Primary retention of teeth.; Unerupted second primary molar.; ",
"cross_references": "MeSH; D014076.",
"definition": "Rare condition that has high penetrance and variable expressivity and in which tooth retention occurs without evidence of any obvious mechanical interference. Instead, malfunction of the eruptive mechanism itself appears to cause nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption. ",
"keywords": null
},
{
"identifier": "Primary pigmented nodular adrenocortical disease 1.",
"acronym": "PPNAD1.",
"accession": "DI-00940",
"synonyms": "Adrenal Cushing syndrome due to PPNAD1.; Primary pigmented micronodular adrenocortical disease 1.; Primary pigmented nodular adrenocortical disease-1.; ",
"cross_references": "MeSH; D003480.",
"definition": "A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. PPNAD1 is most often diagnosed in patients with Carney complex, a multiple neoplasia syndrome. However it can also be observed in patients without other manifestations. ",
"keywords": "KW-1062:Cushing syndrome.; "
},
{
"identifier": "Primary pigmented nodular adrenocortical disease 2.",
"acronym": "PPNAD2.",
"accession": "DI-00941",
"synonyms": "Adrenal Cushing syndrome due to PPNAD2.; Primary pigmented micronodular adrenocortical disease 2.; Primary pigmented nodular adrenocortical disease-2.; ",
"cross_references": "MeSH; D003480.",
"definition": "A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow- to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. ",
"keywords": "KW-1062:Cushing syndrome.; "
},
{
"identifier": "Primary pigmented nodular adrenocortical disease 3.",
"acronym": "PPNAD3.",
"accession": "DI-03239",
"synonyms": "Adrenal Cushing syndrome due to PPNAD3.; ",
"cross_references": "MeSH; D003480.",
"definition": "A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow- to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. ",
"keywords": "KW-1062:Cushing syndrome.; "
},
{
"identifier": "Primary pigmented nodular adrenocortical disease 4.",
"acronym": "PPNAD4.",
"accession": "DI-04115",
"synonyms": "Adrenal Cushing syndrome due to PPNAD4.; Chromosome 19p13 duplication syndrome.; ",
"cross_references": "MeSH; D003480.",
"definition": "A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow- to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. ",
"keywords": "KW-1062:Cushing syndrome.; "
},
{
"identifier": "Primary spontaneous pneumothorax.",
"acronym": "PSP.",
"accession": "DI-02208",
"synonyms": null,
"cross_references": "MedGen; C1868193.",
"definition": "Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose- dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X- linked recessive and autosomal recessive inheritance have also been suggested. ",
"keywords": null
},
{
"identifier": "Primordial dwarfism-immunodeficiency-lipodystrophy syndrome.",
"acronym": "PDIL.",
"accession": "DI-06484",
"synonyms": null,
"cross_references": "MeSH; D008060.",
"definition": "An autosomal recessive syndrome characterized by growth failure with in utero growth retardation and severe postnatal growth restriction, severe microcephaly, absence of subcutaneous fat, and significant haematological and immune dysfunction. Patients have hypo- or agammaglobulinemia, lymphopenia, anemia, and thrombocytopenia. Most affected individuals die in early childhood from either respiratory or gastrointestinal infections. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Primrose syndrome.",
"acronym": "PRIMS.",
"accession": "DI-04154",
"synonyms": "Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes.; ",
"cross_references": "MeSH; D009133.",
"definition": "A disease characterized by macrocephaly, intellectual disability, disturbed behavior, dysmorphic facial features, ectopic calcifications, large calcified ear auricles, and progressive muscle wasting. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1.",
"acronym": "PEOA1.",
"accession": "DI-00943",
"synonyms": "Chronic progressive external ophthalmoplegia.; CPEO.; Graefe disease.; Mitochondrial ocular myopathy.; Ocular myopathy of von Graefe-Fuchs.; Progressive external ophthalmoplegia autosomal dominant.; ",
"cross_references": "MeSH; D017246.",
"definition": "A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2.",
"acronym": "PEOA2.",
"accession": "DI-00944",
"synonyms": "Chronic progressive external ophthalmoplegia.; CPEO.; Graefe disease.; Mitochondrial ocular myopathy.; Ocular myopathy of von Graefe-Fuchs.; Progressive external ophthalmoplegia autosomal dominant 2.; ",
"cross_references": "MeSH; D017246.",
"definition": "A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3.",
"acronym": "PEOA3.",
"accession": "DI-00945",
"synonyms": "Chronic progressive external ophthalmoplegia.; CPEO.; Graefe disease.; Mitochondrial ocular myopathy.; Ocular myopathy of von Graefe-Fuchs.; Progressive external ophthalmoplegia autosomal dominant 3.; ",
"cross_references": "MeSH; D017246.",
"definition": "A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4.",
"acronym": "PEOA4.",
"accession": "DI-00946",
"synonyms": "Chronic progressive external ophthalmoplegia.; CPEO.; Graefe disease.; Mitochondrial ocular myopathy.; Ocular myopathy of von Graefe-Fuchs.; Progressive external ophthalmoplegia autosomal dominant 4.; ",
"cross_references": "MeSH; D017246.",
"definition": "A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5.",
"acronym": "PEOA5.",
"accession": "DI-02544",
"synonyms": "Progressive external ophthalmoplegia autosomal dominant 5.; ",
"cross_references": "MeSH; D017246.",
"definition": "A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6.",
"acronym": "PEOA6.",
"accession": "DI-03758",
"synonyms": "Progressive external ophthalmoplegia autosomal dominant 6.; ",
"cross_references": "MeSH; D017246.",
"definition": "A disorder characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1.",
"acronym": "PEOB1.",
"accession": "DI-00947",
"synonyms": "Chronic progressive external ophthalmoplegia.; CPEO.; Graefe disease.; Mitochondrial ocular myopathy.; Ocular myopathy of von Graefe-Fuchs.; Progressive external ophthalmoplegia autosomal recessive.; ",
"cross_references": "MeSH; D017246.",
"definition": "A severe form of progressive external ophthalmoplegia, a disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. It is clinically more heterogeneous than the autosomal dominant forms. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.",
"acronym": "PEOB2.",
"accession": "DI-04488",
"synonyms": null,
"cross_references": "MeSH; D017246.",
"definition": "A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB2 patients manifest exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
}
]
}