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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1100&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1060&ordering=-synonyms",
"results": [
{
"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": "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": "Chopra-Amiel-Gordon syndrome.",
"acronym": "CAGS.",
"accession": "DI-06214",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by developmental delay, intellectual disability, speech delay, and dysmorphic facial features. Additional features include growth failure, feeding difficulties, non- specific brain abnormalities, ophthalmological abnormalities, gait and balance disturbance, joint hypermobility, and predisposition to recurrent infections. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "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": "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": "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": "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": "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": "Combined oxidative phosphorylation deficiency 51.",
"acronym": "COXPD51.",
"accession": "DI-05943",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, mitochondrial disorder characterized by intrauterine growth retardation, low birth weight, poor overall growth, progressive limb rigidity, delayed psychomotor development, hearing loss, and optic atrophy. Brain imaging shows abnormal bilateral signs at the basal ganglia and brainstem. Patient cells show decreased mitochondrial complex I and IV levels and activities, and generalized mitochondrial translation defects. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Choroidal dystrophy, central areolar 2.",
"acronym": "CACD2.",
"accession": "DI-01330",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 3.",
"acronym": "BBS3.",
"accession": "DI-00161",
"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": "Bardet-Biedl syndrome 4.",
"acronym": "BBS4.",
"accession": "DI-00162",
"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": "Ciliary dyskinesia, primary, 34.",
"acronym": "CILD34.",
"accession": "DI-04822",
"synonyms": null,
"cross_references": "MeSH; D007619.",
"definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Bardet-Biedl syndrome 5.",
"acronym": "BBS5.",
"accession": "DI-00163",
"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": "Amyotrophic lateral sclerosis 9.",
"acronym": "ALS9.",
"accession": "DI-00113",
"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": "Bardet-Biedl syndrome 6.",
"acronym": "BBS6.",
"accession": "DI-00164",
"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": "Cohen-Gibson syndrome.",
"acronym": "COGIS.",
"accession": "DI-05034",
"synonyms": null,
"cross_references": "MeSH; D001847.",
"definition": "An autosomal dominant overgrowth disorder characterized by accelerated osseous maturation, advanced bone age, skeletal abnormalities including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, scoliosis, cervical spine anomalies, dysmorphic facial features, and variable intellectual disability. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 7.",
"acronym": "BBS7.",
"accession": "DI-00165",
"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": "Glaucoma 1, open angle, H.",
"acronym": "GLC1H.",
"accession": "DI-06858",
"synonyms": null,
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. GLC1H is an autosomal dominant form manifesting at age between 3 and 40 years, in most patients. Some affected individuals present with glaucoma after age 35 or 40 years. ",
"keywords": "KW-0955:Glaucoma.; "
}
]
}