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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2020&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1980&ordering=-synonyms",
"results": [
{
"identifier": "Duane retraction syndrome 3 with or without deafness.",
"acronym": "DURS3.",
"accession": "DI-04764",
"synonyms": null,
"cross_references": "MeSH; D004370.",
"definition": "A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. Some DURS3 patients manifest sensorineural hearing loss. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic 14.",
"acronym": "MRXS14.",
"accession": "DI-02460",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS14 patients manifest intellectual disability associated with other variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Dubin-Johnson syndrome.",
"acronym": "DJS.",
"accession": "DI-01508",
"synonyms": null,
"cross_references": "MedGen; C0022350.",
"definition": "Autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function. ",
"keywords": null
},
{
"identifier": "Duchenne muscular dystrophy.",
"acronym": "DMD.",
"accession": "DI-01509",
"synonyms": null,
"cross_references": "MedGen; C0013264.",
"definition": "Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder with neuropsychiatric features.",
"acronym": "IDDNPF.",
"accession": "DI-05022",
"synonyms": null,
"cross_references": "MeSH; D001523.",
"definition": "An autosomal recessive disorder characterized by moderate to severe intellectual disability, epilepsy, and variable neuropsychiatric features, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphism may also be present. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Dworschak-Punetha neurodevelopmental syndrome.",
"acronym": "DWOPNED.",
"accession": "DI-06469",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, mildly impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder and hyperactivity. Additional variable additional features include optic disk hypoplasia, ptosis, hypo- or hyperpigmented skin lesions, non- specific facial dysmorphism, and abnormalities of the ventricles or corpus callosum seen on brain imaging. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Dyggve-Melchior-Clausen syndrome.",
"acronym": "DMC.",
"accession": "DI-00406",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "A rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Harderoporphyria.",
"acronym": "HARPO.",
"accession": "DI-05848",
"synonyms": null,
"cross_references": "MeSH; D011164.",
"definition": "An autosomal recessive form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. HARPO is a rare erythropoietic variant form characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Dyschromatosis universalis hereditaria 1.",
"acronym": "DUH1.",
"accession": "DI-05519",
"synonyms": null,
"cross_references": "MeSH; D010859.",
"definition": "A form of dyschromatosis universalis, an autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. ",
"keywords": null
},
{
"identifier": "Hamamy syndrome.",
"acronym": "HMMS.",
"accession": "DI-03480",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "Hypouricemia renal 2.",
"acronym": "RHUC2.",
"accession": "DI-03137",
"synonyms": null,
"cross_references": "MeSH; D015499.",
"definition": "A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. ",
"keywords": null
},
{
"identifier": "Dyskeratosis congenita, autosomal dominant, 3.",
"acronym": "DKCA3.",
"accession": "DI-03165",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal dominant, 4.",
"acronym": "DKCA4.",
"accession": "DI-03889",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"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": "Dyskeratosis congenita, autosomal dominant, 6.",
"acronym": "DKCA6.",
"accession": "DI-04521",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 1.",
"acronym": "DKCB1.",
"accession": "DI-00408",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 2.",
"acronym": "DKCB2.",
"accession": "DI-03167",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 3.",
"acronym": "DKCB3.",
"accession": "DI-03168",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Multiple mitochondrial dysfunctions syndrome 6.",
"acronym": "MMDS6.",
"accession": "DI-05241",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, neurodegenerative disorder characterized by basal ganglia lesions, cerebellar atrophy, and neurologic regression in the first year of life. Common features include truncal hypotonia, lack of independent ambulation, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. ",
"keywords": "KW-0523:Neurodegeneration.; "
}
]
}