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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1020&ordering=-synonyms",
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"results": [
{
"identifier": "Cortisone reductase deficiency 1.",
"acronym": "CORTRD1.",
"accession": "DI-01436",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic-pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo-amenorrhea, and infertility in females and premature pseudopuberty in males. ",
"keywords": null
},
{
"identifier": "Corticosterone methyloxidase 2 deficiency.",
"acronym": "CMO-2 deficiency.",
"accession": "DI-01435",
"synonyms": null,
"cross_references": "MedGen; CN074247.",
"definition": "Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18- hydroxycorticosterone in serum. ",
"keywords": null
},
{
"identifier": "Cowden syndrome 6.",
"acronym": "CWS6.",
"accession": "DI-03697",
"synonyms": null,
"cross_references": "MeSH; D006223.",
"definition": "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. ",
"keywords": null
},
{
"identifier": "Cowden syndrome 4.",
"acronym": "CWS4.",
"accession": "DI-03695",
"synonyms": null,
"cross_references": "MeSH; D006223.",
"definition": "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. ",
"keywords": null
},
{
"identifier": "Charcot-Marie-Tooth disease, recessive intermediate D.",
"acronym": "CMTRID.",
"accession": "DI-04254",
"synonyms": null,
"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": "Craniofacial microsomia 2.",
"acronym": "CFM2.",
"accession": "DI-06720",
"synonyms": null,
"cross_references": "MeSH; D006053.",
"definition": "A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. Most CFM2 patients exhibit isolated unilateral or bilateral grade II/III microtia, with or without atresia, although some patients show only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed. CFM2 inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Amyotrophic lateral sclerosis 11.",
"acronym": "ALS11.",
"accession": "DI-00115",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Deafness, autosomal dominant, 9.",
"acronym": "DFNA9.",
"accession": "DI-00839",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic hearing loss characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cowden syndrome 7.",
"acronym": "CWS7.",
"accession": "DI-04679",
"synonyms": null,
"cross_references": "MeSH; D006223.",
"definition": "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 4.",
"acronym": "CDCBM4.",
"accession": "DI-03885",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset seizures, microcephaly, spastic tetraplegia, and various malformations of cortical development, such as agyria, posterior or frontal pachygyria, thick cortex, and subcortical band heterotopia and thin corpus callosum in some patients. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia.",
"acronym": "ALS12.",
"accession": "DI-02705",
"synonyms": null,
"cross_references": "MeSH; D057180.",
"definition": "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS12 inheritance can be autosomal dominant or autosomal recessive. There is also sporadic occurrence. ALS12 patients may develop frontotemporal dementia. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Deafness, autosomal dominant, 87.",
"acronym": "DFNA87.",
"accession": "DI-06615",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA87 is characterized by prelingual, profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Autoinflammatory disease, systemic, X-linked.",
"acronym": "SAIDX.",
"accession": "DI-06411",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An X-linked disorder characterized by systemic autoinflammation appearing in the first months of life. Clinical manifestations are variable, including lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional features may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. ",
"keywords": null
},
{
"identifier": "Coronary heart disease 6.",
"acronym": "CHDS6.",
"accession": "DI-03346",
"synonyms": null,
"cross_references": "MeSH; D003324.",
"definition": "A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. ",
"keywords": null
},
{
"identifier": "Autoinflammatory syndrome, familial, Behcet-like 1.",
"acronym": "AIFBL1.",
"accession": "DI-04635",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant, autoinflammatory disorder with early onset, characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional variable features include skin rash, uveitis, and polyarthritis. ",
"keywords": null
},
{
"identifier": "Amyotrophic lateral sclerosis 13.",
"acronym": "ALS13.",
"accession": "DI-02859",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Autoinflammatory syndrome, familial, with or without immunodeficiency.",
"acronym": "AISIMD.",
"accession": "DI-06141",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant, autoinflammatory disorder with incomplete penetrance characterized by autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. Additional variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus. Immunodeficiency is present in some patients. Disease onset is usually in the first decades of life, although later onset has been reported. ",
"keywords": null
},
{
"identifier": "Coffin-Lowry syndrome.",
"acronym": "CLS.",
"accession": "DI-00313",
"synonyms": null,
"cross_references": "MeSH; D038921.",
"definition": "An X-linked disorder characterized by intellectual disability associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Advanced sleep phase syndrome, familial, 1.",
"acronym": "FASPS1.",
"accession": "DI-01548",
"synonyms": null,
"cross_references": "MeSH; D020178.",
"definition": "An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ",
"keywords": null
},
{
"identifier": "Fanconi anemia complementation group P.",
"acronym": "FANCP.",
"accession": "DI-03118",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some individuals affected by Fanconi anemia of complementation group P have skeletal anomalies. ",
"keywords": "KW-0923:Fanconi anemia.; "
}
]
}