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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4480&ordering=-synonyms",
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"results": [
{
"identifier": "Immunodeficiency with hyper-IgM 2.",
"acronym": "HIGM2.",
"accession": "DI-01241",
"synonyms": "Hyper-IgM immunodeficiency type 2.; Hyper-IgM syndrome 2.; ",
"cross_references": "MeSH; D053306.",
"definition": "A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections.",
"acronym": "HIES5.",
"accession": "DI-05873",
"synonyms": "Hyper-IgE recurrent infection syndrome 5, autosomal recessive.; ",
"cross_references": "MeSH; D007589.",
"definition": "An immunologic disorder characterized by recurrent sinopulmonary and deep skin infections, mostly caused by bacteria, including H. influenza and Staphylococcus aureus. Additional features include asthma, atopic dermatitis, and impaired inflammatory responses during infection. Disease onset is in early infancy. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections.",
"acronym": "HIES4B.",
"accession": "DI-05628",
"synonyms": "Hyper-IgE recurrent infection syndrome 4B, autosomal recessive.; ",
"cross_references": "MeSH; D007589.",
"definition": "An immunologic disorder characterized by recurrent infections, mainly affecting the respiratory tract, skin and eye, and skeletal abnormalities including craniosynostosis and scoliosis. Immunologic workup shows increased serum IgE, intermittent eosinophilia, impaired development of certain B- and T-cell populations, as well as impaired acute-phase response. Disease onset is in early childhood. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections.",
"acronym": "HIES4A.",
"accession": "DI-06348",
"synonyms": "Hyper-IgE recurrent infection syndrome 4A, autosomal dominant.; ",
"cross_references": "MeSH; D007589.",
"definition": "An immunologic disorder characterized by recurrent mainly sino- pulmonary infections associated with increased serum IgE. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high- arched palate, hyperextensible joints, scoliosis, and bone fractures. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections.",
"acronym": "HIES3.",
"accession": "DI-05462",
"synonyms": "Hyper-IgE recurrent infection syndrome 3, autosomal recessive.; ",
"cross_references": "MeSH; D007589.",
"definition": "An immunologic disorder characterized by skin bacterial infections in particular with Staphylococcus aureus, susceptibility to fungal infections such as chronic mucocutaneous candidiasis, atopic dermatitis, recurrent respiratory infections, bronchiectasis, and increased serum IgE and IgG. Immunologic work-up shows impaired differentiation of CD4+ T cells into T-helper 17 cells, decreased memory B cells, and often decreased NK cells. Some patients manifest extrahemapoietic features, including facial dysmorphism, abnormal dentition, alopecia, joint hypermobility and bone fractures. Disease onset is in early childhood. ",
"keywords": null
},
{
"identifier": "Premature ovarian failure 1.",
"acronym": "POF1.",
"accession": "DI-02518",
"synonyms": "Hypergonadotropic ovarian failure X-linked.; Ovarian failure premature.; POF.; POFX.; POI.; Premature ovarian failure X-linked.; Primary ovarian insufficiency.; ",
"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": "Hypercarotenemia and vitamin A deficiency, autosomal dominant.",
"acronym": "HCVAD.",
"accession": "DI-01210",
"synonyms": "Hypercarotenemia and hypovitaminosis A.; ",
"cross_references": "MeSH; D014802.",
"definition": "A disorder characterized by increased serum beta-carotene, decreased conversion of beta-carotene to vitamin A and decreased serum vitamin A. ",
"keywords": null
},
{
"identifier": "Hypercalciuria absorptive 2.",
"acronym": "HCA2.",
"accession": "DI-02646",
"synonyms": "Hypercalciuria familial idiopathic.; ",
"cross_references": "MeSH; D053565.",
"definition": "A common type of hypercalciuria, a condition characterized by excessive urinary calcium excretion. Absorptive hypercalciuria is due to gastrointestinal hyperabsorption of calcium and is a frequent cause of calcium oxalate nephrolithiasis. ",
"keywords": null
},
{
"identifier": "Hypercalcemia, infantile, 1.",
"acronym": "HCINF1.",
"accession": "DI-03214",
"synonyms": "Hypercalcemia infantile.; Idiopathic hypercalcemia of infancy.; ",
"cross_references": "MeSH; D006934.",
"definition": "A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. ",
"keywords": null
},
{
"identifier": "Ornithine carbamoyltransferase deficiency.",
"acronym": "OTCD.",
"accession": "DI-00883",
"synonyms": "Hyperammonemia due to ornithine carbamoyltransferase deficiency.; Ornithine transcarbamylase deficiency.; OTC deficiency.; ",
"cross_references": "MeSH; D022124.",
"definition": "An X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms. ",
"keywords": null
},
{
"identifier": "N-acetylglutamate synthase deficiency.",
"acronym": "NAGSD.",
"accession": "DI-02025",
"synonyms": "Hyperammonemia due to N-acetylglutamate synthetase deficiency.; N-acetylglutamate synthetase deficiency.; NAGS deficiency.; ",
"cross_references": "MeSH; D056806.",
"definition": "Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 13.",
"acronym": "LMPHM13.",
"accession": "DI-06611",
"synonyms": "Hydrops fetalis, nonimmune, with cardiac defects and hemangiomas.; ",
"cross_references": "MeSH; D008209.",
"definition": "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM13 is an autosomal recessive form characterized by fetal onset of pleural and peritoneal effusions and the presence of moderate to severe non-immune hydrops fetalis that often resolves with age. Affected individuals show relatively normal growth and development, apart from mild ascites and hemangiomas. Most patients have congenital cardiac defects. ",
"keywords": null
},
{
"identifier": "Urofacial syndrome 1.",
"acronym": "UFS1.",
"accession": "DI-02762",
"synonyms": "Hydronephrosis with peculiar facial expression.; Inverted smile and occult neuropathic bladder.; Ochoa syndrome.; Partial facial palsy partial with urinary abnormalities.; UFS.; Urofacial syndrome.; ",
"cross_references": "MeSH; D019066.",
"definition": "A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. ",
"keywords": null
},
{
"identifier": "Congenital anomalies of kidney and urinary tract 2.",
"acronym": "CAKUT2.",
"accession": "DI-04535",
"synonyms": "Hydronephrosis due to PUJO.; MCRD.; Multicystic renal dysplasia, bilateral.; Pelviureteric junction obstruction.; PUJO.; UPJO.; Ureteropelvic junction obstruction.; ",
"cross_references": "MeSH; D014564.",
"definition": "A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children. ",
"keywords": null
},
{
"identifier": "Hydrocephalus, congenital, 3, with brain anomalies.",
"acronym": "HYC3.",
"accession": "DI-05285",
"synonyms": "Hydrocephalus, non-syndromic, autosomal recessive 3.; ",
"cross_references": "MeSH; D006849.",
"definition": "A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC3 features include enlarged ventricles, hypoplastic or absent cerebellum, holoprosencephaly and Dandy-Walker malformation. Most patients die in utero or shortly after birth. HYC3 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hydrocephalus, congenital, 2, with or without brain or eye anomalies.",
"acronym": "HYC2.",
"accession": "DI-03725",
"synonyms": "Hydrocephalus, non-syndromic, autosomal recessive 2.; ",
"cross_references": "MeSH; D006849.",
"definition": "A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC2 affected individuals have variable neurologic impairment. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and non-specific dysmorphic features, may be observed. HYC2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hydrocephalus, congenital, 1.",
"acronym": "HYC1.",
"accession": "DI-03639",
"synonyms": "Hydrocephalus, non-syndromic, autosomal recessive 1.; Hydrocephaly.; Ventriculomegaly.; ",
"cross_references": "MeSH; D006849.",
"definition": "A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. Affected individuals may have neurologic impairment. HYC1 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly.",
"acronym": "MARCH.",
"accession": "DI-05054",
"synonyms": "Hydranencephaly with renal aplasia-dysplasia.; ",
"cross_references": "MeSH; D007674.",
"definition": "An autosomal recessive, congenital disease characterized by severe hydranencephaly with multinucleated neurons, renal aplasia or dysplasia, and hypoplastic kidneys. Hydranencephaly is an anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. MARCH results in death in utero or in the perinatal period. ",
"keywords": null
},
{
"identifier": "Hydrocephalus, congenital, 4.",
"acronym": "HYC4.",
"accession": "DI-05706",
"synonyms": "HYDCC1.; Hydrocephalus, congenital communicating, 1.; ",
"cross_references": "MeSH; D006849.",
"definition": "An autosomal dominant form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC4 occurs in the absence of obstruction to cerebrospinal fluid flow between the ventricles (communicating hydrocephalus). Affected individuals have neurodevelopmental delay and epilepsy. ",
"keywords": null
},
{
"identifier": "Hydatidiform mole, recurrent, 2.",
"acronym": "HYDM2.",
"accession": "DI-03290",
"synonyms": "Hydatidiform mole complete.; ",
"cross_references": "MeSH; D006828.",
"definition": "A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. ",
"keywords": null
}
]
}