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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4540&ordering=synonyms",
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"results": [
{
"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": "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": "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": "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": "Cardiomyopathy, dilated, 1EE.",
"acronym": "CMD1EE.",
"accession": "DI-02682",
"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": "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": "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": "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": "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": "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": "Immunodeficiency 24.",
"acronym": "IMD24.",
"accession": "DI-04159",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A life-threatening immunodeficiency, characterized by an impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpes viruses, including EBV and varicella zooster virus (VZV), and also suffer from recurrent encapsulated bacterial infections, a spectrum of infections typical of a combined deficiency of adaptive immunity. ",
"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": "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": "Immunodeficiency 22.",
"acronym": "IMD22.",
"accession": "DI-04079",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency characterized by T-cell dysfunction. Affected individuals present with lymphopenia, recurrent infections, severe diarrhea, and failure to thrive. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 20.",
"acronym": "IMD20.",
"accession": "DI-04050",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Affected individuals typically present with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV). ",
"keywords": null
},
{
"identifier": "Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2.",
"acronym": "CFSMR2.",
"accession": "DI-06460",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive disorder characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Craniofacial anomalies and anterior segment dysgenesis syndrome.",
"acronym": "CAASDS.",
"accession": "DI-03261",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "A disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1R.",
"acronym": "CMD1R.",
"accession": "DI-00223",
"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.; "
}
]
}