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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2100&ordering=-synonyms",
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"results": [
{
"identifier": "Bainbridge-Ropers syndrome.",
"acronym": "BRPS.",
"accession": "DI-03920",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands. ",
"keywords": null
},
{
"identifier": "Epilepsy, childhood absence 5.",
"acronym": "ECA5.",
"accession": "DI-00300",
"synonyms": null,
"cross_references": "MeSH; D004832.",
"definition": "A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Ectodermal dysplasia-syndactyly syndrome 1.",
"acronym": "EDSS1.",
"accession": "DI-02899",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ectodermal dysplasia/short stature syndrome.",
"acronym": "ECTDS.",
"accession": "DI-04239",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "An autosomal recessive ectodermal dysplasia syndrome characterized by nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation, abnormal dentition, keratoderma affecting the margins of the palms and soles, focal hyperkeratosis of the dorsal aspects of the hands and feet, and short stature. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; "
},
{
"identifier": "Ectopia lentis 1, isolated, autosomal dominant.",
"acronym": "ECTOL1.",
"accession": "DI-01839",
"synonyms": null,
"cross_references": "MeSH; D004479.",
"definition": "An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation. ",
"keywords": null
},
{
"identifier": "Ectopia lentis 2, isolated, autosomal recessive.",
"acronym": "ECTOL2.",
"accession": "DI-01244",
"synonyms": null,
"cross_references": "MeSH; D004479.",
"definition": "An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation. ",
"keywords": null
},
{
"identifier": "Ectopia lentis et pupillae.",
"acronym": "ECTOLP.",
"accession": "DI-03690",
"synonyms": null,
"cross_references": "MeSH; D011681.",
"definition": "An ocular abnormality characterized by displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions. Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy. ",
"keywords": null
},
{
"identifier": "Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.",
"acronym": "EEC3.",
"accession": "DI-00434",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant syndrome characterized by ectrodactyly of hands and feet, ectodermal dysplasia and facial clefting. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Leukocyte adhesion deficiency 1.",
"acronym": "LAD1.",
"accession": "DI-01897",
"synonyms": null,
"cross_references": "MedGen; C1861766.",
"definition": "LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 13.",
"acronym": "CVID13.",
"accession": "DI-04688",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. CVID13 is an autosomal dominant disease associated with a striking decrease in B-cell numbers. ",
"keywords": null
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 13.",
"acronym": "ARCI13.",
"accession": "DI-05041",
"synonyms": null,
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.",
"acronym": "PEERB.",
"accession": "DI-05486",
"synonyms": null,
"cross_references": "MeSH; D012206.",
"definition": "An autosomal recessive disease characterized by progressive encephalopathy exacerbated by febrile illness and associated with severe neurodevelopmental delay, episodes of rhabdomyolysis, developmental regression, epilepsy and tetraplegia. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Fraser syndrome 3.",
"acronym": "FRASRS3.",
"accession": "DI-05099",
"synonyms": null,
"cross_references": "MeSH; D058497.",
"definition": "A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. ",
"keywords": null
},
{
"identifier": "Huntington disease-like 1.",
"acronym": "HDL1.",
"accession": "DI-01755",
"synonyms": null,
"cross_references": "MedGen; C1864112.",
"definition": "Autosomal dominant, early-onset neurodegenerative disorder with prominent psychiatric features. ",
"keywords": null
},
{
"identifier": "Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia.",
"acronym": "ALS22.",
"accession": "DI-04318",
"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. Patients with ALS22 may develop frontotemporal dementia. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Ehlers-Danlos syndrome, classic-like, 2.",
"acronym": "EDSCLL2.",
"accession": "DI-05255",
"synonyms": null,
"cross_references": "MeSH; D004535.",
"definition": "A variant form of Ehlers-Danlos syndrome, a connective tissue disorder. EDSCLL2 patients show severe joint and skin laxity, osteoporosis affecting the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Additional variable features include gastrointestinal and genitourinary manifestations (bowel rupture, gut dysmotility, cryptorchidism, and hernias), vascular complications (mitral valve prolapse and aortic root dilation), and skeletal anomalies. EDSCLL2 inheritance is autosomal recessive. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "CHARGE syndrome.",
"acronym": "CHARGES.",
"accession": "DI-01338",
"synonyms": null,
"cross_references": "MedGen; C0265354.",
"definition": "Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. ",
"keywords": null
},
{
"identifier": "Fanconi renotubular syndrome 3.",
"acronym": "FRTS3.",
"accession": "DI-03997",
"synonyms": null,
"cross_references": "MeSH; D005198.",
"definition": "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Chediak-Higashi syndrome.",
"acronym": "CHS.",
"accession": "DI-00295",
"synonyms": null,
"cross_references": "MeSH; D002609.",
"definition": "A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT). ",
"keywords": null
},
{
"identifier": "Nemaline myopathy 6.",
"acronym": "NEM6.",
"accession": "DI-02960",
"synonyms": null,
"cross_references": "MeSH; D017696.",
"definition": "A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. ",
"keywords": "KW-1057:Nemaline myopathy.; "
}
]
}