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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5220&ordering=identifier",
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"results": [
{
"identifier": "Pelizaeus-Merzbacher disease.",
"acronym": "PMD.",
"accession": "DI-00903",
"synonyms": "HLD1.; Leukodystrophy hypomyelinating 1.; ",
"cross_references": "MeSH; D020371.",
"definition": "An X-linked recessive hypomyelinating disorder of the central nervous system in which myelin is not formed properly. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay. ",
"keywords": null
},
{
"identifier": "Pendred syndrome.",
"acronym": "PDS.",
"accession": "DI-00905",
"synonyms": "Deafness with goiter.; Goiter-deafness syndrome.; TDH2B.; Thyroid dyshormonogenesis 2B.; ",
"cross_references": "MeSH; D006042.",
"definition": "An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Pentosuria.",
"acronym": "PNTSU.",
"accession": "DI-04062",
"synonyms": "L-xylulose reductase deficiency.; L-xylulosuria.; Xylitol dehydrogenase deficiency.; ",
"cross_references": "MedGen; C0268162.",
"definition": "An inborn error of metabolism characterized by excessive urinary excretion of L-xylulose. ",
"keywords": null
},
{
"identifier": "Perching syndrome.",
"acronym": "PERCHING.",
"accession": "DI-04779",
"synonyms": "CISS3.; Crisponi/Cold-induced sweating syndrome 3.; ",
"cross_references": "MeSH; D006945.",
"definition": "An autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating. ",
"keywords": null
},
{
"identifier": "Periodic fever, familial, autosomal dominant.",
"acronym": "FPF.",
"accession": "DI-00491",
"synonyms": "Caledonian fever.; Familial hibernian fever.; FHF.; TNF receptor-associated periodic syndrome.; TRAPS.; Tumor necrosis factor receptor-associated periodic syndrome.; ",
"cross_references": "MeSH; D056660.",
"definition": "A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Periodic fever, immunodeficiency, and thrombocytopenia syndrome.",
"acronym": "PFITS.",
"accession": "DI-05881",
"synonyms": "Lazy leukocyte syndrome.; ",
"cross_references": "MeSH; D007153.",
"definition": "An immunologic disorder with variable manifestations including early- onset recurrent respiratory infections, stomatitis, cutaneous infections, and neutropenia. ",
"keywords": null
},
{
"identifier": "Periodic fever, menstrual cycle-dependent.",
"acronym": "PFMC.",
"accession": "DI-03472",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "A condition characterized by recurrent fevers up to 40 degrees Celsius associated with the luteal phase of the menstrual cycle. Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines. ",
"keywords": null
},
{
"identifier": "Periodic paralysis hyperkalemic.",
"acronym": "HYPP.",
"accession": "DI-00906",
"synonyms": "Adynamia episodica hereditaria with or without myotonia.; Gamstorp disease.; ",
"cross_references": "MeSH; D020513.",
"definition": "An autosomal dominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Concurrence of myotonia is found in HYPP patients. ",
"keywords": null
},
{
"identifier": "Periodic paralysis hypokalemic 1.",
"acronym": "HOKPP1.",
"accession": "DI-00907",
"synonyms": "HOKPP.; HYPOPP.; Westphall disease.; ",
"cross_references": "MeSH; D020514.",
"definition": "An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels. ",
"keywords": null
},
{
"identifier": "Periodic paralysis hypokalemic 2.",
"acronym": "HOKPP2.",
"accession": "DI-02768",
"synonyms": null,
"cross_references": "MeSH; D020514.",
"definition": "An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels. ",
"keywords": null
},
{
"identifier": "Periodic paralysis normokalemic.",
"acronym": "NKPP.",
"accession": "DI-00908",
"synonyms": "Periodic paralysis eukalemic.; ",
"cross_references": "MeSH; D020513.",
"definition": "A disorder closely related to hyperkalemic periodic paralysis, but marked by a lack of alterations in potassium levels during attacks of muscle weakness. ",
"keywords": null
},
{
"identifier": "Periodontititis, aggressive, 1.",
"acronym": "AP1.",
"accession": "DI-01853",
"synonyms": "JPD.; Juvenile periodontitis.; PPP.; Prepubertal periodontitis.; ",
"cross_references": "MeSH; D010520.",
"definition": "A disease characterized by severe and protracted gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting. ",
"keywords": null
},
{
"identifier": "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease.",
"acronym": "PCWH.",
"accession": "DI-00909",
"synonyms": "Waardenburg-Shah syndrome neurologic variant.; ",
"cross_references": "MeSH; D014849.",
"definition": "A complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease. ",
"keywords": "KW-0209:Deafness.; KW-0367:Hirschsprung disease.; KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "Peripheral motor neuropathy, childhood-onset, biotin-responsive.",
"acronym": "COMNB.",
"accession": "DI-06441",
"synonyms": null,
"cross_references": "MeSH; D010523.",
"definition": "An autosomal recessive disorder characterized by distal muscle weakness and atrophy appearing late in the first decade of life. The disorder predominantly affects the upper limbs and hands, resulting in difficulties with fine motor skills. Some patients may have lower limb involvement, resulting in gait difficulties. Additional features may include spasticity, ataxia, and cerebellar signs. Sensation is intact, and patients have normal cognitive development. Treatment with biotin, pantothenic acid, and lipoic acid may result in clinical improvement. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.",
"acronym": "PNRIID.",
"accession": "DI-05337",
"synonyms": null,
"cross_references": "MeSH; D015417.",
"definition": "An autosomal recessive disorder characterized by early childhood-onset of peripheral sensorimotor neuropathy, progressive distal muscle weakness, atrophy in hands and feet, and gait difficulties, often with loss of ambulation. Most affected individuals also have impaired intellectual development, although some have normal cognition. Additional features may include eye movement abnormalities, claw hands, foot deformities, and scoliosis. ",
"keywords": "KW-0622:Neuropathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Peripheral neuropathy, myopathy, hoarseness, and hearing loss.",
"acronym": "PNMHH.",
"accession": "DI-03320",
"synonyms": null,
"cross_references": "MeSH; D010523.",
"definition": "A complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first affects anterior leg muscles and later posterior leg muscles. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; "
},
{
"identifier": "Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay.",
"acronym": "PNSED.",
"accession": "DI-04526",
"synonyms": "Combined oxidative phosphorylation deficiency 26.; COXPD26.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder with multisystemic and highly variable manifestations. Affected individuals suffer from a peripheral neuropathy, with distal muscle weakness and atrophy, and distal sensory impairment. Additional variable features include early- onset hypotonia and global developmental delay, poor or absent motor skills, exercise intolerance, poor growth, cerebellar signs, spasticity, and seizures. Biochemical analysis may show deficiencies in mitochondrial respiratory complex. Lactic acidosis is frequently observed. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Periventricular nodular heterotopia 1.",
"acronym": "PVNH1.",
"accession": "DI-00910",
"synonyms": "BPNH.; Familial nodular heterotopia.; NHBP.; Nodular heterotopia bilateral periventricular.; Periventricular heterotopia Ehlers-Danlos variant.; Periventricular heterotopia X-linked dominant.; Periventricular nodular heterotopia 4.; PVNH4.; ",
"cross_references": "MeSH; D054091.",
"definition": "A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period. ",
"keywords": null
},
{
"identifier": "Periventricular nodular heterotopia 2.",
"acronym": "PVNH2.",
"accession": "DI-00911",
"synonyms": "ARPHM.; Autosomal recessive periventricular nodular heterotopia type 2.; Periventricular heterotopia autosomal recessive.; Periventricular heterotopia with microcephaly autosomal recessive.; ",
"cross_references": "MeSH; D054091.",
"definition": "A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2. ",
"keywords": null
},
{
"identifier": "Periventricular nodular heterotopia 6.",
"acronym": "PVNH6.",
"accession": "DI-03958",
"synonyms": null,
"cross_references": "MeSH; D054091.",
"definition": "A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy. ",
"keywords": null
}
]
}