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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3100&ordering=-synonyms",
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"results": [
{
"identifier": "Immunodeficiency 26 with or without neurologic abnormalities.",
"acronym": "IMD26.",
"accession": "DI-04200",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A form of severe combined immunodeficiency characterized by reduced or absent T and B cells, recurrent candidiasis, and lower respiratory tract infections. Some patients show dysmorphic features, severe growth failure, microcephaly, seizures, and impaired neurological functions. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Craniofacial-deafness-hand syndrome.",
"acronym": "CDHS.",
"accession": "DI-01442",
"synonyms": null,
"cross_references": "MedGen; C1852510.",
"definition": "Thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1CC.",
"acronym": "CMD1CC.",
"accession": "DI-02530",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Li-Ghorbani-Weisz-Hubshman syndrome.",
"acronym": "LIGOWS.",
"accession": "DI-05894",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, mild to moderate intellectual disability, speech and language impairment, and variable facial dysmorphism. Some patients have seizures and autistic features. Brain imaging abnormalities are observed in some patients and include decreased white matter volume, enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Joubert syndrome 27.",
"acronym": "JBTS27.",
"accession": "DI-04819",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS27 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities.",
"acronym": "NEDHFS.",
"accession": "DI-06586",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures may be present in affected individuals. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Craniometadiaphyseal osteosclerosis with hip dysplasia.",
"acronym": "CMDOH.",
"accession": "DI-06785",
"synonyms": null,
"cross_references": "MeSH; D010026.",
"definition": "An autosomal recessive skeletal dysplasia characterized by macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis. Other frequent findings include hip dysplasia, heart malformations, variable developmental delay, and hematological anomalies. Bone biopsy shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, leading to coarse trabeculae. ",
"keywords": null
},
{
"identifier": "Alport syndrome 2, autosomal recessive.",
"acronym": "ATS2.",
"accession": "DI-00080",
"synonyms": null,
"cross_references": "MeSH; D009394.",
"definition": "A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. ",
"keywords": "KW-0023:Alport syndrome.; KW-0209:Deafness.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1D.",
"acronym": "CMD1D.",
"accession": "DI-00213",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Joubert syndrome 28.",
"acronym": "JBTS28.",
"accession": "DI-04820",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Craniometaphyseal dysplasia, autosomal recessive.",
"acronym": "CMDR.",
"accession": "DI-03897",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1DD.",
"acronym": "CMD1DD.",
"accession": "DI-02568",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cranioosteoarthropathy.",
"acronym": "COA.",
"accession": "DI-01446",
"synonyms": null,
"cross_references": "MeSH; D010004.",
"definition": "A form of osteoarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder with dysmorphic facies and ptosis.",
"acronym": "IDDDFP.",
"accession": "DI-04946",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Immunodeficiency 36 with lymphoproliferation.",
"acronym": "IMD36.",
"accession": "DI-04215",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency characterized by impaired B-cell function, hypogammaglobulinemia and recurrent infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 37.",
"acronym": "IMD37.",
"accession": "DI-04266",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A form of primary combined immunodeficiency, a group of disorders characterized by severe recurrent infections, with normal numbers or an absence of T and B lymphocytes, and impaired cellular and humoral immunity. IMD37 is characterized by hypogammaglobulinemia without lymphopenia, but with profoundly reduced memory B cells and memory T cells, and increased numbers of circulating naive lymphocytes. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Leber congenital amaurosis 13.",
"acronym": "LCA13.",
"accession": "DI-00639",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
"keywords": "KW-0901:Leber congenital amaurosis.; "
},
{
"identifier": "Immunodeficiency 39.",
"acronym": "IMD39.",
"accession": "DI-04423",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency causing severe, life-threatening acute respiratory distress upon infection with H1N1 influenza A. ",
"keywords": null
},
{
"identifier": "Craniosynostosis 3.",
"acronym": "CRS3.",
"accession": "DI-03808",
"synonyms": null,
"cross_references": "MeSH; D003398.",
"definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Tooth agenesis, selective, 9.",
"acronym": "STHAG9.",
"accession": "DI-04899",
"synonyms": null,
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG9 inheritance is autosomal dominant. ",
"keywords": null
}
]
}