HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6520&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6480&ordering=synonyms",
"results": [
{
"identifier": "Periventricular nodular heterotopia 8.",
"acronym": "PVNH8.",
"accession": "DI-05385",
"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. PVNH8 is an autosomal dominant disease characterized by developmental disabilities, speech delay, seizures and attention deficit- hyperactivity disorder. ",
"keywords": null
},
{
"identifier": "Tumoral calcinosis, hyperphosphatemic, familial, 3.",
"acronym": "HFTC3.",
"accession": "DI-05254",
"synonyms": null,
"cross_references": "MeSH; D054559.",
"definition": "A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. ",
"keywords": null
},
{
"identifier": "Periventricular nodular heterotopia 7.",
"acronym": "PVNH7.",
"accession": "DI-04867",
"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. PVNH7 is an autosomal dominant disease characterized by delayed psychomotor development, intellectual disability, and seizures in some patients. Additional features include cleft palate and toe syndactyly. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 38.",
"acronym": "SPGF38.",
"accession": "DI-05557",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities including short, absent, coiled, bent, or irregular- caliber flagella. ",
"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
},
{
"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, 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": "Tumor predisposition syndrome 1.",
"acronym": "TPDS1.",
"accession": "DI-03304",
"synonyms": null,
"cross_references": "MeSH; D009386.",
"definition": "An autosomal dominant condition characterized by predisposition to develop a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, lung adenocarcinoma and meningioma. ",
"keywords": null
},
{
"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": "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 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": "Pelger-Huet anomaly.",
"acronym": "PHA.",
"accession": "DI-02149",
"synonyms": null,
"cross_references": "MeSH; D010381.",
"definition": "An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure. ",
"keywords": null
},
{
"identifier": "Tumoral calcinosis, hyperphosphatemic, familial, 2.",
"acronym": "HFTC2.",
"accession": "DI-05253",
"synonyms": null,
"cross_references": "MeSH; D054559.",
"definition": "A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. ",
"keywords": null
},
{
"identifier": "VACTERL association with hydrocephalus.",
"acronym": "VACTERL-H.",
"accession": "DI-02408",
"synonyms": null,
"cross_references": "MedGen; C2749240.",
"definition": "VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects. ",
"keywords": null
},
{
"identifier": "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.",
"acronym": "PLACK.",
"accession": "DI-04385",
"synonyms": null,
"cross_references": "MeSH; D009260.",
"definition": "An autosomal recessive disease characterized by generalized, continuous shedding of the outer layers of the epidermis, leukonychia, acral punctate keratosis, cheilitis, knuckle pads with multiple hyperkeratotic micropapules involving the interphalangeal joints, and palmoplantar keratoderma. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Peeling skin syndrome 6.",
"acronym": "PSS6.",
"accession": "DI-05307",
"synonyms": null,
"cross_references": "MeSH; D003873.",
"definition": "A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non- inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS6 patients manifest generalized ichthyotic dry skin, and bullous peeling lesions on the trunk and limbs at sites of minor trauma. Skin symptoms are exacerbated by warmth and humidity. PSS6 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Peeling skin syndrome 5.",
"acronym": "PSS5.",
"accession": "DI-04833",
"synonyms": null,
"cross_references": "MeSH; D003873.",
"definition": "A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non- inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS5 patients manifest hyperkeratosis and superficial peeling of areas of the palmar and dorsal faces of hands and feet. Additional variable features include erythema, superficial scaling of forearms and legs and diffuse yellowish hyperkeratotic palmoplantar plaques. PSS5 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Peeling skin syndrome 3.",
"acronym": "PSS3.",
"accession": "DI-04350",
"synonyms": null,
"cross_references": "MeSH; D003873.",
"definition": "A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non- inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS3 is characterized by generalized white scaling occurring over the upper and lower extremities. Symptoms start during the second half of the first decade of life. ",
"keywords": null
},
{
"identifier": "Patent ductus arteriosus 3.",
"acronym": "PDA3.",
"accession": "DI-04763",
"synonyms": null,
"cross_references": "MeSH; D004374.",
"definition": "A congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth. ",
"keywords": null
},
{
"identifier": "Patent ductus arteriosus 2.",
"acronym": "PDA2.",
"accession": "DI-04762",
"synonyms": null,
"cross_references": "MeSH; D004374.",
"definition": "A congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth. ",
"keywords": null
}
]
}