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=1760",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1720",
"results": [
{
"identifier": "Deafness, X-linked, 4.",
"acronym": "DFNX4.",
"accession": "DI-03162",
"synonyms": "Deafness nonsyndromic sensorineural progressive 6.; Deafness X-linked 6 progressive.; DFN6.; ",
"cross_references": "MeSH; D006319.",
"definition": "A non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, X-linked, 5, with peripheral neuropathy.",
"acronym": "DFNX5.",
"accession": "DI-04610",
"synonyms": "Auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy.; AUNX1.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of hearing loss characterized by absent or severely abnormal auditory brainstem response, abnormal middle ear reflexes, abnormal speech discrimination, loss of outer hair cell function, and cochlear nerve hypoplasia. DFNX5 patients manifest auditory neuropathy with childhood onset, associated with distal sensory impairment affecting the peripheral nervous system. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; "
},
{
"identifier": "Deafness, X-linked, 6.",
"acronym": "DFNX6.",
"accession": "DI-04012",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, X-linked, 7.",
"acronym": "DFNX7.",
"accession": "DI-05369",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A congenital form of bilateral mixed or conductive hearing loss, which is progressive in some patients. Additional clinical features include ear anomalies and facial dysmorphism with bilateral ptosis. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Deafness, Y-linked 2.",
"acronym": "DFNY2.",
"accession": "DI-05525",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness 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. DFNY2 patients show bilateral symmetric hearing loss ranging from mild to severe, with onset in the third to fifth decades of life. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "DEEAH syndrome.",
"acronym": "DEEAH.",
"accession": "DI-05908",
"synonyms": "Developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by moderate to severe global developmental delay, impaired intellectual development, poor or absent speech, and endocrine, pancreatic exocrine and autonomic dysfunction, as well as hematologic abnormalities. Additional features include facial dysmorphism, seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "DEGCAGS syndrome.",
"acronym": "DEGCAGS.",
"accession": "DI-06209",
"synonyms": "Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, coarse facial features, and abnormalities of the cardiovascular, gastrointestinal, genitourinary and skeletal system. Other common features included anemia or pancytopenia, immunodeficiency and recurrent infections, and sensorineural hearing impairment. Death in childhood may occur. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema.",
"acronym": "DHS1.",
"accession": "DI-03801",
"synonyms": "Dehydrated hereditary stomatocytosis.; DHS.; Familial pseudohyperkalemia 1 due to red cell leak.; Hereditary desiccytosis.; Hereditary xerocytosis.; Pseudohyperkalemia Edinburgh.; PSHK1.; ",
"cross_references": "MeSH; D000745.",
"definition": "An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Patients may also show perinatal edema and pseudohyperkalemia due to loss of potassium from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Dehydrated hereditary stomatocytosis 2.",
"acronym": "DHS2.",
"accession": "DI-04597",
"synonyms": "Desiccytosis Gardos.; Xerocytosis Gardos.; ",
"cross_references": "MeSH; D000745.",
"definition": "An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. Affected individuals typically manifest mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Their red cells exhibit a panel of various shape abnormalities such as elliptocytes, hemighosts, schizocytes, and very rare stomatocytic cells. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Dejerine-Sottas syndrome.",
"acronym": "DSS.",
"accession": "DI-00387",
"synonyms": "Charcot-Marie-Tooth disease demyelinating type 4F.; Charcot-Marie-Tooth disease type 3.; Charcot-Marie-Tooth disease type 4F.; Charcot-Marie-Tooth neuropathy type 4F.; CMT4F.; Hereditary motor and sensory neuropathy III.; HMSN3.; HMSN III.; Hypertrophic neuropathy of Dejerine-Sottas.; ",
"cross_references": "MeSH; D015417.",
"definition": "A severe degenerating neuropathy of the demyelinating Charcot-Marie- Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0213:Dejerine-Sottas syndrome.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Delayed puberty, self-limited.",
"acronym": "DPSL.",
"accession": "DI-06269",
"synonyms": "Constitutional delay of puberty.; ",
"cross_references": "MeSH; D011628.",
"definition": "A condition defined as the absence of testicular enlargement in boys or breast development in girls at an age that is 2-2.5 SD later than the population mean. DPSL is often familial and is highly heritable, most commonly seen with an autosomal dominant inheritance pattern. ",
"keywords": null
},
{
"identifier": "Delayed sleep phase syndrome.",
"acronym": "DSPS.",
"accession": "DI-03211",
"synonyms": null,
"cross_references": "MeSH; D020178.",
"definition": "A circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. ",
"keywords": null
},
{
"identifier": "Delpire-McNeill syndrome.",
"acronym": "DELMNES.",
"accession": "DI-05959",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia with delayed or absent walking, bilateral sensorineural deafness, poor or absent speech, and mild to severe intellectual disability. Additional variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Dementia, Lewy body.",
"acronym": "DLB.",
"accession": "DI-01901",
"synonyms": "Cortical Lewy body disease.; Diffuse Lewy body disease.; Diffuse Lewy body disease with gaze palsy.; Dysphasic dementia hereditary.; Lewy body dementia.; Lewy body type senile dementia.; Lewy body variant of Alzheimer disease.; ",
"cross_references": "MeSH; D020961.",
"definition": "A neurodegenerative disorder characterized by mental impairment leading to dementia, parkinsonism, fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Brainstem or cortical intraneuronal accumulations of aggregated proteins (Lewy bodies) are the only essential pathologic features. Patients may also have hippocampal and neocortical senile plaques, sometimes in sufficient number to fulfill the diagnostic criteria for Alzheimer disease. ",
"keywords": "KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Den Hoed-de Boer-Voisin syndrome.",
"acronym": "DHDBV.",
"accession": "DI-06058",
"synonyms": "Kohlschutter-Tonz syndrome-like.; KTZSL.; ",
"cross_references": "MeSH; D065886.",
"definition": "A disorder characterized by global developmental delay, moderately to severely impaired intellectual development, poor or absent speech, delayed motor skills, and early-onset epilepsy in many patients. Most affected individuals have feeding difficulties, poor overall growth, dysmorphic facial features, and significant dental anomalies resembling amelogenesis imperfecta. More variable features include visual defects, behavioral abnormalities, and non-specific involvement of other organ systems. DHDBV transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance and variable expressivity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Dental anomalies and short stature.",
"acronym": "DASS.",
"accession": "DI-02717",
"synonyms": "Brachyolmia-amelogenesis imperfecta syndrome.; Platyspondyly with amelogenesis imperfecta.; STHAG6.; Tooth agenesis, selective, 6.; VBS.; Verloes Bourguignon syndrome.; ",
"cross_references": "MeSH; D010009.",
"definition": "A disorder characterized by hypoplastic amelogenesis imperfecta, significant short stature, brachyolmia-like anomalies including platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Dental anomalies include widely spaced, small, yellow teeth, oligodontia, and severely reduced to absent enamel. ",
"keywords": "KW-0242:Dwarfism.; KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Dentatorubral-pallidoluysian atrophy.",
"acronym": "DRPLA.",
"accession": "DI-01476",
"synonyms": null,
"cross_references": "MedGen; C2931846.",
"definition": "Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth. ",
"keywords": null
},
{
"identifier": "Dent disease 1.",
"acronym": "DENT1.",
"accession": "DI-00802",
"synonyms": "Nephrolithiasis 2.; Nephrolithiasis-hypercalciuria X-linked recessive.; NPHL2.; Urolithiasis, hypercalciuric, X-linked.; ",
"cross_references": "MeSH; D053040.",
"definition": "An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. DENT1 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia. ",
"keywords": null
},
{
"identifier": "Dent disease 2.",
"acronym": "DENT2.",
"accession": "DI-00386",
"synonyms": null,
"cross_references": "MeSH; D015499.",
"definition": "An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low- molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones. ",
"keywords": null
},
{
"identifier": "Dentici-Novelli neurodevelopmental syndrome.",
"acronym": "DENNED.",
"accession": "DI-06425",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Disease severity is variable. More severely affected individuals have profound intellectual disability, axial hypotonia, peripheral spasticity, prenatal and postnatal microcephaly, early-onset seizures, brain imaging abnormalities, and are unable to walk or speak. Patients with a less severe phenotype may achieve some developmental goals and show less severe intellectual disability. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
}
]
}