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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5880&ordering=-synonyms",
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"results": [
{
"identifier": "Mononeuropathy of the median nerve mild.",
"acronym": "MNMN.",
"accession": "DI-02929",
"synonyms": "Carpal tunnel syndrome.; ",
"cross_references": "MeSH; D002349.",
"definition": "A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies. ",
"keywords": null
},
{
"identifier": "Pheochromocytoma/paraganglioma syndrome 1.",
"acronym": "PPGL1.",
"accession": "DI-01733",
"synonyms": "Carotid body tumors.; CBT1.; Chemodectomas.; Familial non-chromaffin paragangliomas 1.; Familial paragangliomas non-chromaffin 1 with or without deafness.; Glomus jugulare tumors.; Glomus tumors familial 1.; Paraganglioma carotid body.; Paragangliomas familial 1.; Paragangliomata.; PGL.; PGL1.; ",
"cross_references": "MeSH; D010235.",
"definition": "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Pheochromocytoma/paraganglioma syndrome 4.",
"acronym": "PPGL4.",
"accession": "DI-01735",
"synonyms": "Carotid body tumors and multiple extraadrenal pheochromocytomas.; Familial chromaffin paraganglioma 4.; Paraganglioma familial malignant.; Paragangliomas 4.; Paragangliomas hereditary extraadrenal.; PGL4.; Pheochromocytoma extraadrenal and cervical paraganglioma.; Pheochromocytoma familial extraadrenal.; ",
"cross_references": "MeSH; D010235.",
"definition": "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL4 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Carnitine palmitoyltransferase 2 deficiency, infantile.",
"acronym": "CPT2DI.",
"accession": "DI-03089",
"synonyms": "Carnitine palmitoyltransferase II deficiency, hepatocardiomuscular.; Carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia.; CPT2 deficiency, infantile.; CPT II deficiency, hepatic.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy. ",
"keywords": null
},
{
"identifier": "Carnitine palmitoyltransferase 2 deficiency, lethal neonatal.",
"acronym": "CPT2DLN.",
"accession": "DI-01323",
"synonyms": "Carnitine palmitoyltransferase II deficiency, antenatal.; Carnitine palmitoyltransferase II deficiency, neonatal.; CPT2 deficiency, lethal neonatal.; CPT II deficiency, lethal neonatal.; Lethal neonatal CPT-II deficiency.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fatal outcome, presenting shortly after birth. It is characterized by respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. recessive. ",
"keywords": null
},
{
"identifier": "Carnitine palmitoyltransferase 1A deficiency.",
"acronym": "CPT1AD.",
"accession": "DI-01321",
"synonyms": "Carnitine palmitoyltransferase I deficiency.; CPT1A deficiency.; CPT-I deficiency.; ",
"cross_references": "MedGen; C1829703.",
"definition": "Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood. ",
"keywords": null
},
{
"identifier": "Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced.",
"acronym": "CPT2D.",
"accession": "DI-01322",
"synonyms": "Carnitine palmitoyltransferase 2 deficiency, late-onset.; Carnitine palmitoyltransferase II deficiency, adult-onset.; Carnitine palmitoyltransferase II deficiency, myopathic.; CPT2 deficiency, late-onset.; CPT II deficiency, myopathic.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death. ",
"keywords": null
},
{
"identifier": "Paraganglioma and gastric stromal sarcoma.",
"acronym": "PGGSS.",
"accession": "DI-02128",
"synonyms": "Carney-Stratakis syndrome.; Paraganglioma and gastrointestinal stromal tumor.; ",
"cross_references": "MedGen; C1847319.",
"definition": "Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance. ",
"keywords": null
},
{
"identifier": "3MC syndrome 2.",
"acronym": "3MC2.",
"accession": "DI-03130",
"synonyms": "Carnevale Krajewska Fischetto syndrome.; Carnevale syndrome.; Oculo-skeletal-abdominal syndrome.; OSA syndrome.; Ptosis of eyelids with diastasis recti and hip dysplasia.; ",
"cross_references": "MeSH; D005141.",
"definition": "A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. ",
"keywords": null
},
{
"identifier": "Mucolipidosis type III complementation group A.",
"acronym": "MLIIIA.",
"accession": "DI-01996",
"synonyms": "Cariant pseudo-Hurler polydystrophy.; ",
"cross_references": "MedGen; C2673375.",
"definition": "Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or intellectual disability. ",
"keywords": "KW-0942:Mucolipidosis.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 10.",
"acronym": "COXPD10.",
"accession": "DI-03492",
"synonyms": "Cardiomyopathy infantile hypertrophic mitochondrial and lactic acidosis.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 8.",
"acronym": "COXPD8.",
"accession": "DI-03184",
"synonyms": "Cardiomyopathy hypertrophic mitochondrial fatal infantile.; ",
"cross_references": "MeSH; D017240.",
"definition": "A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Cardiomyopathy, infantile histiocytoid.",
"acronym": "CMIH.",
"accession": "DI-00248",
"synonyms": "Cardiomyopathy focal lipid.; Cardiomyopathy infantile xanthomatous.; Cardiomyopathy oncocytic.; ",
"cross_references": "MeSH; D009202.",
"definition": "A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction.",
"acronym": "CMH23.",
"accession": "DI-04440",
"synonyms": "Cardiomyopathy, familial hypertrophic 23, with or without LVNC.; ",
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1J.",
"acronym": "CMD1J.",
"accession": "DI-00217",
"synonyms": "Cardiomyopathy dilated with sensorineural hearing loss autosomal dominant.; ",
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1C, with or without left ventricular non-compaction.",
"acronym": "CMD1C.",
"accession": "DI-00212",
"synonyms": "Cardiomyopathy dilated with left ventricular noncompaction.; ",
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1A.",
"acronym": "CMD1A.",
"accession": "DI-00210",
"synonyms": "Cardiomyopathy dilated with conduction defect 1.; CDCD1.; ",
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 25.",
"acronym": "CMH25.",
"accession": "DI-00220",
"synonyms": "Cardiomyopathy, dilated, 1N.; CMD1N.; ",
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Naxos disease.",
"acronym": "NXD.",
"accession": "DI-00798",
"synonyms": "Cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities.; Keratosis palmoplantaris with arrythmogenic cardiomyopathy.; Mal de Naxos.; Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair.; Woolly hair, palmoplantar keratoderma, and cardiac abnormalities.; ",
"cross_references": "MeSH; D019571.",
"definition": "An autosomal recessive disorder characterized by the association of diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated cardiomyopathy and arrhythmogenic right ventricular dysplasia. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 10.",
"acronym": "MTDPS10.",
"accession": "DI-03390",
"synonyms": "Cardiomyopathy and cataract.; Mitochondrial DNA depletion syndrome 10 (cardiomyopathic type).; Sengers syndrome.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-0898:Cataract.; KW-1274:Primary mitochondrial disease.; "
}
]
}