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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=100&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=60&ordering=synonyms",
"results": [
{
"identifier": "Agenesis of the corpus callosum, with abnormal genitalia.",
"acronym": "ACCAG.",
"accession": "DI-01175",
"synonyms": "ACC with abnormal genitalia.; Corpus callosum, agenesis of, with abnormal genitalia.; Micrencephaly-corpus callosum agenesis-abnormal genitalia.; Proud-Levine-Carpenter syndrome.; Proud syndrome.; ",
"cross_references": "MeSH; D009421.",
"definition": "An X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, intellectual disability and seizures. Manifestations in surviving males include severe acquired micrencephaly, intellectual disability, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. ",
"keywords": null
},
{
"identifier": "Alveolar capillary dysplasia with misalignment of pulmonary veins.",
"acronym": "ACDMPV.",
"accession": "DI-02714",
"synonyms": "ACD.; Alveolar capillary dysplasia.; Alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies.; ",
"cross_references": "MeSH; D010547.",
"definition": "A rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right- left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn. ",
"keywords": null
},
{
"identifier": "Amyloidosis, primary localized cutaneous, 3.",
"acronym": "PLCA3.",
"accession": "DI-05216",
"synonyms": "ACD.; Amyloidosis cutis dyschromica.; ",
"cross_references": "MeSH; D028226.",
"definition": "A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. PLCA3 inheritance is autosomal recessive. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Corneal dystrophy, Avellino type.",
"acronym": "CDA.",
"accession": "DI-01264",
"synonyms": "ACD.; Avellino corneal dystrophy.; CGD2.; Combined granular-lattice corneal dystrophy.; Granular corneal dystrophy type II.; ",
"cross_references": "MeSH; D028226.",
"definition": "A corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision. ",
"keywords": "KW-1008:Amyloidosis.; KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Farber lipogranulomatosis.",
"acronym": "FRBRL.",
"accession": "DI-01606",
"synonyms": "AC deficiency.; Acid ceramidase deficiency.; Ceramidase deficiency.; Farber disease.; N-laurylsphingosine deacylase deficiency.; ",
"cross_references": "MeSH; D055577.",
"definition": "An autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 16.",
"acronym": "SPGF16.",
"accession": "DI-04878",
"synonyms": "Acephalic spermatozoa syndrome.; ",
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. Most spermatozoa are made up of headless tails, while a small proportion has an abnormal head-tail junction. A few spermatozoa are made up of tailless heads. ",
"keywords": null
},
{
"identifier": "Episodic ataxia 2.",
"acronym": "EA2.",
"accession": "DI-00476",
"synonyms": "Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia.; APCA.; CAPA.; EA-2.; Episodic ataxia nystagmus-associated.; Episodic ataxia with nystagmus.; Hereditary paroxysmal cerebellopathy.; ",
"cross_references": "MeSH; D001259.",
"definition": "An autosomal dominant disorder characterized by acetozolamide- responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy. ",
"keywords": null
},
{
"identifier": "Mucopolysaccharidosis 3C.",
"acronym": "MPS3C.",
"accession": "DI-00776",
"synonyms": "Acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency.; MPS IIIC.; Mucopolysaccharidosis type IIIC.; Sanfilippo syndrome C.; ",
"cross_references": "MeSH; D009084.",
"definition": "A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. ",
"keywords": "KW-0510:Mucopolysaccharidosis.; "
},
{
"identifier": "Huppke-Brendel syndrome.",
"acronym": "HPBDS.",
"accession": "DI-03388",
"synonyms": "Acetyl-CoA transporter deficiency.; CCHLND.; Congenital cataracts, hearing loss, and neurodegeneration.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination. ",
"keywords": "KW-0209:Deafness.; KW-0523:Neurodegeneration.; KW-0898:Cataract.; "
},
{
"identifier": "Achondrogenesis 1A.",
"acronym": "ACG1A.",
"accession": "DI-02719",
"synonyms": "ACG-IA.; Achondrogenesis Houston-Harris type.; Achondrogenesis type IA.; ",
"cross_references": "MeSH; D010009.",
"definition": "A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Achondrogenesis 1B.",
"acronym": "ACG1B.",
"accession": "DI-00019",
"synonyms": "ACG-IB.; Achondrogenesis Fraccaro type.; Achondrogenesis type IB.; Fraccaro achondrogenesis.; ",
"cross_references": "MeSH; D010009.",
"definition": "A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ACG1B is an autosomal recessive disease. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Achondrogenesis 2.",
"acronym": "ACG2.",
"accession": "DI-00020",
"synonyms": "ACG-II.; Achondrogenesis-hypochondrogenesis type II.; Achondrogenesis Langer-Saldino type.; Achondrogenesis type II.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal dominant disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Acheiropody.",
"acronym": "ACHP.",
"accession": "DI-01165",
"synonyms": "Acheiropodia.; Acheiropody Brazilian type.; ",
"cross_references": "MeSH; D006228.",
"definition": "Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet. ",
"keywords": null
},
{
"identifier": "Butyrylcholinesterase deficiency.",
"acronym": "BCHED.",
"accession": "DI-01302",
"synonyms": "Acholinesterasemia.; Fluoride-resistant butyrylcholinesterase deficiency Japanese type.; Fluoride-resistant hypocholinesterasemia Japanese type.; Postanesthetic apnea.; Pseudocholinesterase deficiency.; Suxamethonium sensitivity.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. ",
"keywords": null
},
{
"identifier": "Acromesomelic dysplasia 2A.",
"acronym": "AMD2A.",
"accession": "DI-00031",
"synonyms": "Achondrogenesis, Brazilian.; Achondrogenesis, type II.; Acromesomelic chondrodysplasia, Grebe type.; AMDG.; Grebe chondrodysplasia.; Grebe dysplasia.; ",
"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). AMD2A is an autosomal recessive form characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Achromatopsia 3.",
"acronym": "ACHM3.",
"accession": "DI-00023",
"synonyms": "Achromatopsia with myopia.; Pingelapese blindness.; Total colorblindness with myopia.; ",
"cross_references": "MeSH; D003117.",
"definition": "An autosomal recessive, 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. Achromatopsia type 3 patients manifest severe myopia. ",
"keywords": null
},
{
"identifier": "Glycogen storage disease 2.",
"acronym": "GSD2.",
"accession": "DI-00522",
"synonyms": "Acid alpha-glucosidase deficiency.; Acid maltase deficiency.; Alpha-1,4-glucosidase deficiency.; AMD.; Cardiomegalia glycogenica.; GAA deficiency.; Glycogenosis generalized cardiac form.; Glycogenosis II.; Glycogen storage disease II.; GSD II.; GSD-II.; Pompe disease.; ",
"cross_references": "MeSH; D006009.",
"definition": "A metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Gaucher disease.",
"acronym": "GD.",
"accession": "DI-03092",
"synonyms": "Acid beta-glucosidase deficiency.; GBA deficiency.; Glucocerebrosidase deficiency.; ",
"cross_references": "MeSH; D005776.",
"definition": "An autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta-glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD is a multisystem disease historically divided into three main subtypes on the basis of the presence of neurologic involvement, age at onset and progression rate: type 1 is the non-neuropathic form, type 2 is the acute neuropathic form with early onset and rapid neurologic deterioration, type 3 is the chronic neuropathic form with slow progression of neurologic features. GD shows a marked phenotypic diversity ranging from adult asymptomatic forms, at the mild end, to perinatal lethal forms at the severe end of the disease spectrum. Formal diagnosis of Gaucher disease is based on the measurement of glucocerebrosidase levels in circulating leukocytes and molecular genetic analysis. ",
"keywords": null
},
{
"identifier": "Acne inversa, familial, 3.",
"acronym": "ACNINV3.",
"accession": "DI-02997",
"synonyms": "Acne inversa familial.; Hidradenitis suppurativa familial.; ",
"cross_references": "MeSH; D017497.",
"definition": "A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. ",
"keywords": null
},
{
"identifier": "Acne inversa, familial, 2, with or without Dowling-Degos disease.",
"acronym": "ACNINV2.",
"accession": "DI-02996",
"synonyms": "Acne inversa familial.; Hidradenitis suppurativa familial.; ",
"cross_references": "MeSH; D017497.",
"definition": "An autosomal dominant form of acne inversa, a chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Some ACNINV2 patients also exhibit reticulate hyperpigmentation consistent with Dowling- Degos disease. ",
"keywords": null
}
]
}