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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2880&ordering=-synonyms",
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"results": [
{
"identifier": "Congenital myopathy 20.",
"acronym": "CMYP20.",
"accession": "DI-06640",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "An autosomal recessive neuromuscular disorder characterized by variable manifestations. Some patients have congenital limb or distal contractures manifesting soon after birth, while others develop muscle weakness with difficulty running and climbing stairs in early childhood. Additional features may include facial dysmorphism, and delayed development with intellectual disability. Skeletal muscle biopsy may show variation in fiber size with type 1 fiber predominance and atrophy, hypertrophic type 2 fibers, and abundant nemaline bodies. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism 4.",
"acronym": "HRPT4.",
"accession": "DI-04951",
"synonyms": null,
"cross_references": "MeSH; D049950.",
"definition": "A form of familial primary hyperparathyroidism, a hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone due to parathyroid hyperplasia or neoplasms. Clinical features include hypercalcemia, phosphaturia, and increased bone resorption. HRPT4 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 21 with early respiratory failure.",
"acronym": "CMYP21.",
"accession": "DI-06656",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "An autosomal recessive muscle disorder characterized by diaphragmatic weakness, respiratory impairment, and spinal rigidity. Disease onset ranges from early childhood to adulthood and severity is variable. Death from respiratory failure may occur in severe cases. Some affected individuals may show developmental delay and hypertrophic cardiomyopathy. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism, transient neonatal.",
"acronym": "HRPTTN.",
"accession": "DI-05388",
"synonyms": null,
"cross_references": "MeSH; D006961.",
"definition": "An autosomal recessive disease characterized by impaired transplacental maternal-fetal transport of calcium, high serum PTH levels and signs of metabolic bone disease in the neonatal period. Skeletal anomalies include generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. Affected individuals experience postnatal respiratory and feeding difficulties. The condition improves within a short time after birth once calcium is provided orally. ",
"keywords": null
},
{
"identifier": "Hyperphenylalaninemia.",
"acronym": "HPA.",
"accession": "DI-01781",
"synonyms": null,
"cross_references": "MedGen; C2678416.",
"definition": "Mildest form of phenylalanine hydroxylase deficiency. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 22A, classic.",
"acronym": "CMYP22A.",
"accession": "DI-06672",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A form of congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness apparent at birth, and specific pathological features on muscle biopsy. CMYP22A is an autosomal recessive form characterized by fetal hypokinesia, polyhydramnios, and severe neonatal hypotonia associated with respiratory insufficiency. Affected individuals who survive the neonatal period have delayed motor development, difficulty walking, proximal muscle weakness of the upper and lower limbs, facial and neck muscle weakness, easy fatigability, and mild limb contractures or foot deformities. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 22B, severe fetal.",
"acronym": "CMYP22B.",
"accession": "DI-06673",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A severe congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness apparent at birth, and specific pathological features on muscle biopsy. CMYP22B is an autosomal recessive form characterized by onset in utero. Affected individuals show fetal akinesia, and develop fetal hydrops with pulmonary hypoplasia, severe joint contractures, and generalized muscle hypoplasia. Death occurs in utero or soon after birth. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder with short stature, facial anomalies, and speech defects.",
"acronym": "IDDSFAS.",
"accession": "DI-05547",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, delayed or slurred speech, and short stature. Dysmorphic features included a large bulbous nose and variable microretrognathia. Some patients show joint hyperlaxity and dislocations. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Brunet-Wagner neurodevelopmental syndrome.",
"acronym": "BRUWAG.",
"accession": "DI-06308",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by severe developmental delay, intellectual disability, poor or absent speech, infantile hypotonia, inability to walk, behavioral abnormalities, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hyperphenylalaninemia, mild, non-BH4-deficient.",
"acronym": "HPANBH4.",
"accession": "DI-04966",
"synonyms": null,
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability. ",
"keywords": null
},
{
"identifier": "Neurocardiofaciodigital syndrome.",
"acronym": "NCFD.",
"accession": "DI-06420",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal recessive syndrome characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with a supernumerary hypoplastic digit between the fourth and fifth digits of the hands and/or feet. Other features include eye abnormalities, hearing impairment, and electroencephalogram anomalies. ",
"keywords": null
},
{
"identifier": "Macrothrombocytopenia, isolated, 1, autosomal dominant.",
"acronym": "MACTHC1.",
"accession": "DI-02623",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. ",
"keywords": null
},
{
"identifier": "Neutropenia, severe congenital 7, autosomal recessive.",
"acronym": "SCN7.",
"accession": "DI-04754",
"synonyms": null,
"cross_references": "MeSH; D009503.",
"definition": "A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ",
"keywords": null
},
{
"identifier": "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset.",
"acronym": "NADGP.",
"accession": "DI-04862",
"synonyms": null,
"cross_references": "MeSH; D020271.",
"definition": "A neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. Disease onset is in childhood or adolescence. NADGP transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Hyperphosphatasia with impaired intellectual development syndrome 6.",
"acronym": "HPMRS6.",
"accession": "DI-04648",
"synonyms": null,
"cross_references": "MeSH; D010760.",
"definition": "An autosomal recessive, multisystem disorder characterized by severe developmental delay, dysmorphism, seizures, cataracts, and early death in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Congenital myopathy 2B, severe infantile, autosomal recessive.",
"acronym": "CMYP2B.",
"accession": "DI-06621",
"synonyms": null,
"cross_references": "MeSH; D020512.",
"definition": "An autosomal recessive skeletal muscle disorder characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood. Longer survival has been reported. ",
"keywords": null
},
{
"identifier": "Hyperproinsulinemia.",
"acronym": "HPRI.",
"accession": "DI-01585",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material. ",
"keywords": null
},
{
"identifier": "Hyperprolactinemia.",
"acronym": "HPRL.",
"accession": "DI-03975",
"synonyms": null,
"cross_references": "MeSH; D006966.",
"definition": "A disorder characterized by increased levels of prolactin in the blood not associated with gestation or the puerperium. HPRL may result in infertility, hypogonadism, and galactorrhea. ",
"keywords": null
},
{
"identifier": "Bryant-Li-Bhoj neurodevelopmental syndrome 2.",
"acronym": "BRYLIB2.",
"accession": "DI-06328",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Spermatogenic failure 13.",
"acronym": "SPGF13.",
"accession": "DI-04119",
"synonyms": null,
"cross_references": "MeSH; D053713.",
"definition": "A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. ",
"keywords": null
}
]
}