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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1040&ordering=-synonyms",
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"results": [
{
"identifier": "Autoinflammatory-pancytopenia syndrome.",
"acronym": "AIPCS.",
"accession": "DI-06407",
"synonyms": null,
"cross_references": "MeSH; D010198.",
"definition": "An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. ",
"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": "Amyotrophic lateral sclerosis 16, juvenile.",
"acronym": "ALS16.",
"accession": "DI-03324",
"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": "Advanced sleep phase syndrome, familial, 2.",
"acronym": "FASPS2.",
"accession": "DI-03718",
"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": "Avascular necrosis of the femoral head, primary 2.",
"acronym": "ANFH2.",
"accession": "DI-04965",
"synonyms": null,
"cross_references": "MeSH; D005271.",
"definition": "A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ",
"keywords": null
},
{
"identifier": "COACH syndrome 3.",
"acronym": "COACH3.",
"accession": "DI-05979",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH3 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 18.",
"acronym": "ALS18.",
"accession": "DI-03520",
"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": "Cortical dysplasia, complex, with other brain malformations 3.",
"acronym": "CDCBM3.",
"accession": "DI-03884",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset epilepsy, and various malformations of cortical development such as agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Cutis laxa, autosomal dominant, 2.",
"acronym": "ADCL2.",
"accession": "DI-03317",
"synonyms": null,
"cross_references": "MeSH; D003483.",
"definition": "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 6.",
"acronym": "CDCBM6.",
"accession": "DI-04083",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria. ",
"keywords": null
},
{
"identifier": "Ayme-Gripp syndrome.",
"acronym": "AYGRP.",
"accession": "DI-04468",
"synonyms": null,
"cross_references": "MeSH; D019066.",
"definition": "A multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 19.",
"acronym": "ALS19.",
"accession": "DI-03940",
"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": "Azoospermia, obstructive, with nephrolithiasis.",
"acronym": "OAZON.",
"accession": "DI-06054",
"synonyms": null,
"cross_references": "MeSH; D053040.",
"definition": "An X-linked recessive, male infertility disorder characterized by epidydimal obstruction, hypercalciuria and kidney stones. ",
"keywords": null
},
{
"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": "B-cell expansion with NFKB and T-cell anergy.",
"acronym": "BENTA.",
"accession": "DI-04476",
"synonyms": null,
"cross_references": "MeSH; D008218.",
"definition": "An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. ",
"keywords": null
},
{
"identifier": "2,4-dienoyl-CoA reductase deficiency.",
"acronym": "DECRD.",
"accession": "DI-04240",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. ",
"keywords": null
},
{
"identifier": "Advanced sleep phase syndrome, familial, 3.",
"acronym": "FASPS3.",
"accession": "DI-04696",
"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": "Charcot-Marie-Tooth disease, dominant intermediate C.",
"acronym": "CMTDIC.",
"accession": "DI-00265",
"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. The dominant intermediate type C 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, dominant intermediate D.",
"acronym": "CMTDID.",
"accession": "DI-00266",
"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. The dominant intermediate type D 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": "Fibrochondrogenesis 1.",
"acronym": "FBCG1.",
"accession": "DI-03132",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A severe short-limbed skeletal dysplasia characterized by broad long- bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. ",
"keywords": "KW-0242:Dwarfism.; "
}
]
}