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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5480&ordering=synonyms",
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"results": [
{
"identifier": "Hydatidiform mole, recurrent, 4.",
"acronym": "HYDM4.",
"accession": "DI-05568",
"synonyms": null,
"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
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 11.",
"acronym": "MRD11.",
"accession": "DI-03254",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hydrocephalus, congenital, 5.",
"acronym": "HYC5.",
"accession": "DI-06606",
"synonyms": null,
"cross_references": "MeSH; D006849.",
"definition": "A form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC5 is an autosomal dominant form with incomplete penetrance and variable expressivity, associated with aqueductal stenosis apparent from birth. Some patients may have neurodevelopmental delay, seizures, or structural brain abnormalities. ",
"keywords": null
},
{
"identifier": "Hydrocephalus, normal pressure, 1.",
"acronym": "HYDNP1.",
"accession": "DI-05745",
"synonyms": null,
"cross_references": "MeSH; D006850.",
"definition": "An autosomal dominant neurologic disorder characterized by a slowly progressive gait disorder, urinary incontinence, progressive intellectual decline, and ventricular enlargement on brain imaging. Cerebrospinal fluid pressure tends to be in the high normal range. ",
"keywords": null
},
{
"identifier": "Hydrolethalus syndrome 1.",
"acronym": "HLS1.",
"accession": "DI-01760",
"synonyms": null,
"cross_references": "MeSH; D006849.",
"definition": "A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Hydrolethalus syndrome 2.",
"acronym": "HLS2.",
"accession": "DI-03208",
"synonyms": null,
"cross_references": "MeSH; D006849.",
"definition": "An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Hydrops, lactic acidosis, and sideroblastic anemia.",
"acronym": "HLASA.",
"accession": "DI-04765",
"synonyms": null,
"cross_references": "MeSH; D008659.",
"definition": "A lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections.",
"acronym": "HIES6.",
"accession": "DI-06771",
"synonyms": null,
"cross_references": "MeSH; D007589.",
"definition": "An immunologic disorder characterized by severe allergic disease with onset in infancy. Common features are treatment-resistant atopic dermatitis, food allergies, asthma, eosinophilic gastrointestinal disease, and severe episodes of anaphylaxis. Half of the patients present with recurrent skin, respiratory, and viral infections. Clinical laboratory testing is notable for eosinophilia and markedly elevated serum IgE levels. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 9.",
"acronym": "BBS9.",
"accession": "DI-00167",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 8.",
"acronym": "BBS8.",
"accession": "DI-00166",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 7.",
"acronym": "BBS7.",
"accession": "DI-00165",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Hyperammonemia due to carbonic anhydrase VA deficiency.",
"acronym": "CA5AD.",
"accession": "DI-04105",
"synonyms": null,
"cross_references": "MeSH; D022124.",
"definition": "An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis. ",
"keywords": null
},
{
"identifier": "Hypercalcemia, infantile, 2.",
"acronym": "HCINF2.",
"accession": "DI-04726",
"synonyms": null,
"cross_references": "MeSH; D006934.",
"definition": "An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. ",
"keywords": null
},
{
"identifier": "Hyperchlorhidrosis, isolated.",
"acronym": "HYCHL.",
"accession": "DI-03013",
"synonyms": null,
"cross_references": "MeSH; D006945.",
"definition": "An autosomal recessive disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 6.",
"acronym": "BBS6.",
"accession": "DI-00164",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 5.",
"acronym": "BBS5.",
"accession": "DI-00163",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "HyperCKmia.",
"acronym": "HYPCK.",
"accession": "DI-01766",
"synonyms": null,
"cross_references": "MedGen; C0241005.",
"definition": "Characterized by persistent elevated levels of serum creatine kinase without muscle weakness. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 4.",
"acronym": "BBS4.",
"accession": "DI-00162",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 3.",
"acronym": "BBS3.",
"accession": "DI-00161",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Hyperekplexia 3.",
"acronym": "HKPX3.",
"accession": "DI-03456",
"synonyms": null,
"cross_references": "MeSH; D000071017.",
"definition": "A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life- threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life. ",
"keywords": null
}
]
}