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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3220&ordering=-synonyms",
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"results": [
{
"identifier": "Infantile liver failure syndrome 1.",
"acronym": "ILFS1.",
"accession": "DI-03895",
"synonyms": null,
"cross_references": "MeSH; D017093.",
"definition": "A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. ",
"keywords": null
},
{
"identifier": "Infantile liver failure syndrome 2.",
"acronym": "ILFS2.",
"accession": "DI-04550",
"synonyms": null,
"cross_references": "MeSH; D017093.",
"definition": "A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. ",
"keywords": null
},
{
"identifier": "Dyskeratosis congenita, X-linked.",
"acronym": "DKCX.",
"accession": "DI-00409",
"synonyms": "Zinsser-Cole-Engman syndrome.; ",
"cross_references": "MeSH; D019871.",
"definition": "A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "ZTTK syndrome.",
"acronym": "ZTTKS.",
"accession": "DI-04860",
"synonyms": "Zhu-Tokita-Takenouchi-Kim syndrome.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant syndrome characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculo-skeletal abnormalities, and congenital malformations. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Dystonia 31.",
"acronym": "DYT31.",
"accession": "DI-06261",
"synonyms": "Zech-Boesch syndrome.; ",
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT31 is an autosomal recessive, progressive form with onset from childhood to young adulthood. Involuntary muscle twisting movements and postural abnormalities affect the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "XFE progeroid syndrome.",
"acronym": "XFEPS.",
"accession": "DI-02464",
"synonyms": "XPF-ERCC1 progeroid syndrome.; ",
"cross_references": "MeSH; D049914.",
"definition": "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Myopathy, X-linked, with excessive autophagy.",
"acronym": "MEAX.",
"accession": "DI-02454",
"synonyms": "XMEA.; ",
"cross_references": "MeSH; D009135.",
"definition": "A muscle disorder characterized by childhood early onset of a slowly progressive proximal limb muscle weakness (especially in legs) and elevation of serum creatine kinase, without evidence of cardiac, respiratory or central nervous system involvement. Histopathological analysis reveals diseased muscle fibers that are not necrotic, but show abnormal autophagic vacuolation as a manifestation of excessive autophagic activity in skeletal muscle cells. ",
"keywords": null
},
{
"identifier": "Pigmentary disorder, reticulate, with systemic manifestations, X-linked.",
"acronym": "PDR.",
"accession": "DI-04788",
"synonyms": "XLPDR.; ",
"cross_references": "MeSH; D010859.",
"definition": "An X-linked recessive disorder characterized by recurrent infections and sterile inflammation in various organs. Diffuse skin hyperpigmentation with a distinctive reticulate pattern is universally evident by early childhood. This is later followed in many patients by hypohidrosis, corneal inflammation and scarring, enterocolitis that resembles inflammatory bowel disease, and recurrent urethral strictures. Melanin and amyloid deposition is present in the dermis. Affected males also have a characteristic facies with frontally upswept hair and flared eyebrows. Female carriers have only restricted pigmentary changes along Blaschko's lines. ",
"keywords": null
},
{
"identifier": "Lissencephaly, X-linked 1.",
"acronym": "LISX1.",
"accession": "DI-00673",
"synonyms": "XLIS.; ",
"cross_references": "MeSH; D054082.",
"definition": "A classic lissencephaly characterized by intellectual disability and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Retinitis pigmentosa 2.",
"acronym": "RP2.",
"accession": "DI-00972",
"synonyms": "X-linked retinitis pigmentosa 2.; XLRP2.; XLRP-2.; ",
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Congenital heart defects, multiple types, 1, X-linked.",
"acronym": "CHTD1.",
"accession": "DI-03598",
"synonyms": "X-linked congenital heart defects nonsyndromic 1.; X-linked congenital heart disease nonsyndromic 1.; ",
"cross_references": "MeSH; D006330.",
"definition": "A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. ",
"keywords": null
},
{
"identifier": "Cleft palate with or without ankyloglossia, X-linked.",
"acronym": "CPX.",
"accession": "DI-02436",
"synonyms": "X-linked cleft palate with ankyloglossia.; ",
"cross_references": "MeSH; D002972.",
"definition": "A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue. ",
"keywords": null
},
{
"identifier": "Abruzzo-Erickson syndrome.",
"acronym": "ABERS.",
"accession": "DI-03763",
"synonyms": "X-linked Charge-like syndrome.; ",
"cross_references": "MeSH; D019767.",
"definition": "A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; "
},
{
"identifier": "Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome.",
"acronym": "IPEX.",
"accession": "DI-01811",
"synonyms": "X-linked autoimmunity-immunodeficiency syndrome.; ",
"cross_references": "MedGen; C1844663.",
"definition": "Characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, thrombocytopenia, anemia and eczema. It is usually lethal in infancy. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 3B.",
"acronym": "CMD3B.",
"accession": "DI-00231",
"synonyms": "XLCM.; X-linked dilated cardiomyopathy.; ",
"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. CMD3B is an X-linked disorder. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Lymphoproliferative syndrome, X-linked, 2.",
"acronym": "XLP2.",
"accession": "DI-00695",
"synonyms": "XIAP deficiency.; ",
"cross_references": "MeSH; D008232.",
"definition": "A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma. ",
"keywords": null
},
{
"identifier": "De Sanctis-Cacchione syndrome.",
"acronym": "DSC.",
"accession": "DI-00389",
"synonyms": "Xerodermic idiocy.; Xerodermic idiocy of de Sanctis and Cacchione.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with intellectual disability, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset. ",
"keywords": "KW-0242:Dwarfism.; KW-0857:Xeroderma pigmentosum.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Xeroderma pigmentosum variant type.",
"acronym": "XPV.",
"accession": "DI-01162",
"synonyms": "Xeroderma pigmentosum with normal DNA repair rates.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes. ",
"keywords": "KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum complementation group E.",
"acronym": "XP-E.",
"accession": "DI-01159",
"synonyms": "Xeroderma pigmentosum V.; XP5.; XP group E.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-E patients show a mild phenotype with minimal or no neurologic features. ",
"keywords": "KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum complementation group F.",
"acronym": "XP-F.",
"accession": "DI-01160",
"synonyms": "Xeroderma pigmentosum VI.; XP6.; XP group F.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype. ",
"keywords": "KW-0857:Xeroderma pigmentosum.; "
}
]
}