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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5640&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5600&ordering=-synonyms",
"results": [
{
"identifier": "Budd-Chiari syndrome.",
"acronym": "BDCHS.",
"accession": "DI-01300",
"synonyms": "Chiari syndrome.; Membranous obstruction of the inferior vena cava.; MOVC.; ",
"cross_references": "MeSH; D006502.",
"definition": "A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera. ",
"keywords": null
},
{
"identifier": "Chondrodysplasia punctata 2, X-linked dominant.",
"acronym": "CDPX2.",
"accession": "DI-00303",
"synonyms": "CHH.; Conradi-Hunermann-Happle syndrome.; Conradi-Hunermann syndrome.; Happle syndrome.; ",
"cross_references": "MeSH; D002806.",
"definition": "A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8- dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues. ",
"keywords": "KW-0242:Dwarfism.; KW-0898:Cataract.; KW-0977:Ichthyosis.; "
},
{
"identifier": "Uncombable hair syndrome 1.",
"acronym": "UHS1.",
"accession": "DI-04895",
"synonyms": "Chevelure en vadrouille.; Cheveux incoiffables.; Pili trianguli et canaliculi.; Spun glass hair.; UHS.; Uncombable hair syndrome.; Unmanageable hair syndrome.; ",
"cross_references": "MeSH; D006201.",
"definition": "A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age. UHS1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Corneal endothelial dystrophy.",
"acronym": "CHED.",
"accession": "DI-01430",
"synonyms": "CHED2.; Congenital hereditary endothelial corneal dystrophy.; Congenital hereditary endothelial dystrophy of cornea.; Corneal endothelial dystrophy 2, autosomal recessive.; Maumenee corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, posterior polymorphous, 1.",
"acronym": "PPCD1.",
"accession": "DI-02640",
"synonyms": "CHED1.; Corneal endothelial dystrophy 1, autosomal dominant.; Hereditary polymorphous posterior corneal dystrophy.; Maumenee corneal dystrophy.; PPCD.; ",
"cross_references": "MeSH; D003317.",
"definition": "A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Thyroid dyshormonogenesis 6.",
"acronym": "TDH6.",
"accession": "DI-00361",
"synonyms": "CHDH6.; Congenital hypothyroidism due to dyshormonogenesis type 6.; Genetic defect in thyroid hormonogenesis 6.; ",
"cross_references": "MeSH; D003409.",
"definition": "A disorder due to a defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Thyroid dyshormonogenesis 5.",
"acronym": "TDH5.",
"accession": "DI-02527",
"synonyms": "CHDH5.; Congenital hypothyroidism due to dyshormonogenesis type 5.; Genetic defect in thyroid hormonogenesis type 5.; ",
"cross_references": "MeSH; D003409.",
"definition": "A disorder due to thyroid dyshormonogenesis, causing hypothyroidism, goiter, and variable mental deficits derived from unrecognized and untreated hypothyroidism. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Thyroid dyshormonogenesis 4.",
"acronym": "TDH4.",
"accession": "DI-01403",
"synonyms": "CHDH4.; Congenital hypothyroidism due to dyshormonogenesis type 4.; Deiodinase deficiency.; Genetic defect in thyroid hormonogenesis type 4.; Iodotyrosine dehalogenase deficiency.; ",
"cross_references": "MeSH; D003409.",
"definition": "A disorder due to thyroid dyshormonogenesis, causing severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, and variable mental deficits derived from unrecognized and untreated hypothyroidism. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Thyroid dyshormonogenesis 3.",
"acronym": "TDH3.",
"accession": "DI-02526",
"synonyms": "CHDH3.; Congenital hypothyroidism due to dyshormonogenesis type 3.; Genetic defect in thyroid hormonogenesis type 3.; ",
"cross_references": "MeSH; D003409.",
"definition": "A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Thyroid dyshormonogenesis 2A.",
"acronym": "TDH2A.",
"accession": "DI-00360",
"synonyms": "CHDH2A.; Congenital hypothyroidism due to dyshormonogenesis type 2A.; Genetic defect in thyroid hormonogenesis 2A.; Iodide peroxidase deficiency.; Thyroid hormone organification defect 2.; TIOD.; ",
"cross_references": "MeSH; D003409.",
"definition": "A disorder due to defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Thyroid dyshormonogenesis 1.",
"acronym": "TDH1.",
"accession": "DI-00359",
"synonyms": "CHDH1.; Congenital hypothyroidism due to dyshormonogenesis type 1.; Genetic defect in thyroid hormonogenesis 1.; Iodine accumulation, transport or trapping defect.; ",
"cross_references": "MeSH; D003409.",
"definition": "A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Non-syndromic orofacial cleft 11.",
"acronym": "OFC11.",
"accession": "DI-00830",
"synonyms": "CHCL.; Cleft lip congenital healed.; Congenital healed cleft lip.; Non-syndromic cleft lip/palate 11.; Non-syndromic cleft lip with or without cleft palate 11.; Orofacial cleft 11.; ",
"cross_references": "MeSH; D002971.",
"definition": "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. ",
"keywords": null
},
{
"identifier": "Charcot-Marie-Tooth disease, X-linked recessive, 5.",
"acronym": "CMTX5.",
"accession": "DI-01337",
"synonyms": "Charcot-Marie-Tooth neuropathy X-linked recessive 5.; Optic atrophy with polyneuropathy and deafness.; Rosenberg-Chutorian syndrome.; ",
"cross_references": "MeSH; D015417.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, X-linked dominant, 6.",
"acronym": "CMTX6.",
"accession": "DI-03842",
"synonyms": "Charcot-Marie-Tooth neuropathy X-linked 6.; ",
"cross_references": "MeSH; D015417.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, X-linked dominant, 1.",
"acronym": "CMTX1.",
"accession": "DI-00293",
"synonyms": "Charcot-Marie-Tooth neuropathy X-linked 1.; Charcot-Marie-Tooth peroneal muscular atrophy X-linked.; CMTX.; Hereditary motor and sensory neuropathy X-linked.; HMSN X-linked.; ",
"cross_references": "MeSH; D015417.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, dominant intermediate E.",
"acronym": "CMTDIE.",
"accession": "DI-03340",
"synonyms": "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis.; ",
"cross_references": "MeSH; D002607.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end- stage renal disease, and a characteristic histologic pattern on renal biopsy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease 4B3.",
"acronym": "CMT4B3.",
"accession": "DI-03784",
"synonyms": "Charcot-Marie-Tooth neuropathy type 4B3.; ",
"cross_references": "MeSH; D002607.",
"definition": "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, recessive intermediate C.",
"acronym": "CMTRIC.",
"accession": "DI-03862",
"synonyms": "Charcot-Marie-Tooth neuropathy recessive intermediate C.; RI-CMTC.; ",
"cross_references": "MeSH; D002607.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, recessive intermediate B.",
"acronym": "CMTRIB.",
"accession": "DI-02946",
"synonyms": "Charcot-Marie-Tooth neuropathy recessive intermediate B.; RI-CMTB.; ",
"cross_references": "MeSH; D002607.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, recessive intermediate A.",
"acronym": "CMTRIA.",
"accession": "DI-00267",
"synonyms": "Charcot-Marie-Tooth neuropathy recessive intermediate A.; RI-CMTA.; ",
"cross_references": "MeSH; D002607.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
}
]
}