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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2800&ordering=-synonyms",
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"results": [
{
"identifier": "Hydatidiform mole, recurrent, 3.",
"acronym": "HYDM3.",
"accession": "DI-05567",
"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": "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": "Aplastic anemia.",
"acronym": "AA.",
"accession": "DI-02842",
"synonyms": null,
"cross_references": "MeSH; D000741.",
"definition": "A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. ",
"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": "Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities.",
"acronym": "NEDMSB.",
"accession": "DI-06859",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by failure to thrive, global developmental delay with intellectual disability and absent speech, seizures, hypotonia, inability to walk, orofacial dyskinesia, involuntary movements, and structural brain abnormalities. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Myopathy, distal, Tateyama type.",
"acronym": "MPDT.",
"accession": "DI-03297",
"synonyms": null,
"cross_references": "MeSH; D049310.",
"definition": "A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet. ",
"keywords": null
},
{
"identifier": "Breast-ovarian cancer, familial, 5.",
"acronym": "BROVCA5.",
"accession": "DI-06717",
"synonyms": null,
"cross_references": "MeSH; D010051.",
"definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ",
"keywords": null
},
{
"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": "Intellectual developmental disorder, autosomal dominant 52.",
"acronym": "MRD52.",
"accession": "DI-05153",
"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, 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": "Left ventricular non-compaction 5.",
"acronym": "LVNC5.",
"accession": "DI-05185",
"synonyms": null,
"cross_references": "MeSH; D056830.",
"definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Brittle cornea syndrome 2.",
"acronym": "BCS2.",
"accession": "DI-03176",
"synonyms": null,
"cross_references": "MeSH; D004535.",
"definition": "A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints. ",
"keywords": null
},
{
"identifier": "Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.",
"acronym": "HADDTS.",
"accession": "DI-05219",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by delayed motor development, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Congenital disorder of glycosylation with defective fucosylation 1.",
"acronym": "CDGF1.",
"accession": "DI-05266",
"synonyms": null,
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDGF1 is an autosomal recessive disorder, apparent from birth, characterized by poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Long QT syndrome 10.",
"acronym": "LQT10.",
"accession": "DI-00687",
"synonyms": null,
"cross_references": "MeSH; D008133.",
"definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ",
"keywords": "KW-0454:Long QT syndrome.; "
},
{
"identifier": "Congenital disorder of glycosylation with defective fucosylation 2.",
"acronym": "CDGF2.",
"accession": "DI-05480",
"synonyms": null,
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an autosomal recessive disorder, apparent from birth, characterized by hypotonia, poor feeding, severely impaired intellectual and psychomotor development, seizures with epileptic encephalopathy, visual impairment and other ocular features, respiratory difficulty with frequent infections, as well as contractures. Brain imaging shows cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Slowed nerve conduction velocity.",
"acronym": "SNCV.",
"accession": "DI-02311",
"synonyms": null,
"cross_references": "MedGen; C1842357.",
"definition": "Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant. ",
"keywords": null
}
]
}