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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=80&ordering=-synonyms",
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"results": [
{
"identifier": "Amyloidosis, hereditary systemic 6.",
"acronym": "AMYLD6.",
"accession": "DI-06896",
"synonyms": null,
"cross_references": "MeSH; D028226.",
"definition": "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD6 is mainly characterized by gastrointestinal and cardiac symptoms. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present. Inheritance is autosomal dominant. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome.",
"acronym": "PAPPAS.",
"accession": "DI-05747",
"synonyms": null,
"cross_references": "MeSH; D004480.",
"definition": "An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia. ",
"keywords": null
},
{
"identifier": "2,4-dienoyl-CoA reductase deficiency.",
"acronym": "DECRD.",
"accession": "DI-04240",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. ",
"keywords": null
},
{
"identifier": "Achromatopsia 4.",
"acronym": "ACHM4.",
"accession": "DI-01166",
"synonyms": null,
"cross_references": "MeSH; D003117.",
"definition": "An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ",
"keywords": null
},
{
"identifier": "Achromatopsia 5.",
"acronym": "ACHM5.",
"accession": "DI-05080",
"synonyms": null,
"cross_references": "MeSH; D003117.",
"definition": "A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Achromatopsia 7.",
"acronym": "ACHM7.",
"accession": "DI-04499",
"synonyms": null,
"cross_references": "MeSH; D003117.",
"definition": "A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ",
"keywords": null
},
{
"identifier": "Acid-labile subunit deficiency.",
"acronym": "ACLSD.",
"accession": "DI-04198",
"synonyms": null,
"cross_references": "MeSH; D006130.",
"definition": "A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings. ",
"keywords": null
},
{
"identifier": "Glomuvenous malformations.",
"acronym": "GVMs.",
"accession": "DI-01668",
"synonyms": null,
"cross_references": "MedGen; C1841984.",
"definition": "Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. ",
"keywords": null
},
{
"identifier": "High bone mass trait.",
"acronym": "HBM.",
"accession": "DI-01741",
"synonyms": null,
"cross_references": "MedGen; C1866080.",
"definition": "Rare phenotype characterized by exceptionally dense bones. HBM individuals show otherwise a completely normal skeletal structure and no other unusual clinical findings. ",
"keywords": null
},
{
"identifier": "Acromesomelic dysplasia 4.",
"acronym": "AMD4.",
"accession": "DI-06276",
"synonyms": null,
"cross_references": "MeSH; D004392.",
"definition": "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age. AMD4 inheritance is autosomal recessive. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Adams-Oliver syndrome 5.",
"acronym": "AOS5.",
"accession": "DI-04227",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ",
"keywords": null
},
{
"identifier": "Acro-dermato-ungual-lacrimal-tooth syndrome.",
"acronym": "ADULT syndrome.",
"accession": "DI-00028",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Alazami-Yuan syndrome.",
"acronym": "ALYUS.",
"accession": "DI-04825",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive syndrome reminiscent of Cornelia de Lange syndrome and characterized by delayed psychomotor development with intellectual disability, hypotonia, microcephaly, short stature, poor speech, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Acrocapitofemoral dysplasia.",
"acronym": "ACFD.",
"accession": "DI-00026",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles. ",
"keywords": null
},
{
"identifier": "Acrodermatitis enteropathica, zinc-deficiency type.",
"acronym": "AEZ.",
"accession": "DI-00027",
"synonyms": null,
"cross_references": "MeSH; D000169.",
"definition": "A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune- system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. ",
"keywords": null
},
{
"identifier": "Advanced sleep phase syndrome, familial, 1.",
"acronym": "FASPS1.",
"accession": "DI-01548",
"synonyms": null,
"cross_references": "MeSH; D020178.",
"definition": "An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ",
"keywords": null
},
{
"identifier": "Acrodysostosis 2, with or without hormone resistance.",
"acronym": "ACRDYS2.",
"accession": "DI-03460",
"synonyms": null,
"cross_references": "MeSH; D004413.",
"definition": "A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. ",
"keywords": null
},
{
"identifier": "Adams-Oliver syndrome 4.",
"acronym": "AOS4.",
"accession": "DI-03817",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ",
"keywords": null
},
{
"identifier": "Acrofacial dysostosis, Cincinnati type.",
"acronym": "AFDCIN.",
"accession": "DI-04483",
"synonyms": null,
"cross_references": "MeSH; D008342.",
"definition": "A form of acrofacial dysostosis, a group of disorders characterized by malformations of the craniofacial skeleton and, in some patients, the limbs. AFDCIN patients may also have structural cardiac defects and neurologic abnormalities including developmental delay, hypotonia, motor delay and seizures. AFDCIN inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Amyotrophic lateral sclerosis 27, juvenile.",
"acronym": "ALS27.",
"accession": "DI-06629",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A form of amyotrophic lateral sclerosis, 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. ALS27 is an autosomal dominant form manifesting as toe walking and gait abnormalities in early childhood. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
}
]
}