HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1100&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1060&ordering=synonyms",
"results": [
{
"identifier": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive.",
"acronym": "CHN1.",
"accession": "DI-00358",
"synonyms": "Charcot-Marie-Tooth disease type 4E.; Charcot-Marie-Tooth neuropathy type 4E.; CMT4E.; Congenital amyelinating neuropathy.; Congenital hypomyelinating neuropathy autosomal recessive.; Neuropathy, congenital hypomyelinating or amyelinating.; Severe congenital hypomyelination.; ",
"cross_references": "MeSH; D002607.",
"definition": "A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia.",
"acronym": "CMTX4.",
"accession": "DI-03693",
"synonyms": "Charcot-Marie-Tooth disease X-linked recessive 4.; Cowchock syndrome.; COWCK.; NADMR.; NAMSD.; ",
"cross_references": "MeSH; D008607.",
"definition": "A neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, distal sensory impairment, difficulty walking due to peripheral neuropathy and/or cerebellar ataxia, and deafness due to auditory neuropathy. Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0209:Deafness.; KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, dominant intermediate B.",
"acronym": "CMTDIB.",
"accession": "DI-00264",
"synonyms": "Charcot-Marie-Tooth neuropathy dominant intermediate B.; CMTDI1.; DI-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. The dominant intermediate type B 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. ",
"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.; "
},
{
"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 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 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, 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, 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, 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 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": "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": "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": "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 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 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 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 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": "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": "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.; "
}
]
}