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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2180&ordering=-synonyms",
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"results": [
{
"identifier": "Erythropoietic protoporphyria, X-linked dominant.",
"acronym": "XLDPT.",
"accession": "DI-00485",
"synonyms": null,
"cross_references": "MeSH; D046351.",
"definition": "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is characterized biochemically by a high proportion of zinc- protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. ",
"keywords": null
},
{
"identifier": "Epidermodysplasia verruciformis 5.",
"acronym": "EV5.",
"accession": "DI-05471",
"synonyms": null,
"cross_references": "MeSH; D004819.",
"definition": "A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV5 patients shows T-cell lymphopenia, particularly affecting CD4+ T cells. EV5 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.",
"acronym": "CDP-PBHM.",
"accession": "DI-03899",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A disease characterized by chondrodysplasia, severe platyspondyly, hydrocephaly, and facial features with microphthalmia. Bone abnormalities include a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. Affected females show a milder phenotype with small stature, sometimes associated with body asymmetry and mild intellectual disability. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 19.",
"acronym": "BBS19.",
"accession": "DI-04162",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Chondrosarcoma.",
"acronym": "CHDSA.",
"accession": "DI-02741",
"synonyms": null,
"cross_references": "MeSH; D002813.",
"definition": "A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. ",
"keywords": null
},
{
"identifier": "Epidermolysis bullosa dystrophica, pretibial type.",
"acronym": "PR-DEB.",
"accession": "DI-00455",
"synonyms": null,
"cross_references": "MeSH; D016108.",
"definition": "A form of dystrophic epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa dystrophica, with subcorneal cleavage.",
"acronym": "EBDSC.",
"accession": "DI-00456",
"synonyms": null,
"cross_references": "MeSH; D016108.",
"definition": "A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa pruriginosa.",
"acronym": "EBP.",
"accession": "DI-00460",
"synonyms": null,
"cross_references": "MeSH; D016108.",
"definition": "A distinct clinical subtype of epidermolysis bullosa dystrophica. It is characterized by skin fragility, blistering, scar formation, intense pruritus and excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third decade of life. Inheritance can be autosomal dominant or recessive. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "CHOPS syndrome.",
"acronym": "CHOPS.",
"accession": "DI-04427",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. ",
"keywords": "KW-0242:Dwarfism.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 2.",
"acronym": "BBS2.",
"accession": "DI-00160",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Chordoma.",
"acronym": "CHDM.",
"accession": "DI-02579",
"synonyms": null,
"cross_references": "MeSH; D002817.",
"definition": "Rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 20.",
"acronym": "BBS20.",
"accession": "DI-06190",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Chorea, childhood-onset, with psychomotor retardation.",
"acronym": "COCPMR.",
"accession": "DI-04724",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by abnormal involuntary movements, marked speech delay, intellectual disability and learning difficulties. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "Bardet-Biedl syndrome 21.",
"acronym": "BBS21.",
"accession": "DI-04960",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive.",
"acronym": "EBS2D.",
"accession": "DI-06254",
"synonyms": null,
"cross_references": "MeSH; D016110.",
"definition": "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2D is an autosomal recessive form characterized by widespread intraepidermal skin blistering and erosions from birth. Death may occur in the neonatal period. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia.",
"acronym": "ALS6.",
"accession": "DI-00111",
"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": "Immunodeficiency 14B, autosomal recessive.",
"acronym": "IMD14B.",
"accession": "DI-06085",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive, primary immunodeficiency characterized by recurrent sinopulmonary infections apparent in early childhood. Some patients may develop inflammatory bowel disease or osteomyelitis. Immunological features include hypogammaglobulinemia, decreased levels of B cells, and evidence of impaired immune-mediated cytotoxicity and defective T-cell function. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 22.",
"acronym": "BBS22.",
"accession": "DI-04830",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia.",
"acronym": "NEDFIH.",
"accession": "DI-06588",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by moderate to severe global developmental delay, facial dysmorphism, and ischiopubic synchondrosis hypoplasia. Affected individuals show infection- triggered lymphopenia, and loss of developmental milestones associated with epileptic spasms. Diminished white matter volume, enlarged ventricles, and thin corpus callosum are visible on brain imaging. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}