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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6640&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6600&ordering=-synonyms",
"results": [
{
"identifier": "Carpenter syndrome 1.",
"acronym": "CRPT1.",
"accession": "DI-01325",
"synonyms": "ACPS2.; ACPS II.; Acrocephalopolysyndactyly 2.; Acrocephalopolysyndactyly type II.; Carpenter syndrome.; ",
"cross_references": "MeSH; D000168.",
"definition": "A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; intellectual disability; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Schwannomatosis, vestibular.",
"acronym": "SWNV.",
"accession": "DI-02045",
"synonyms": "Acoustic neurinoma, bilateral.; Acoustic schwannomas, bilateral.; ANC.; BANF.; Bilateral acoustic neurofibromatosis.; Central neurofibromatosis.; Neurofibromatosis 2.; NF2.; Schwannomatosis 3.; SWN3.; ",
"cross_references": "MeSH; D016518.",
"definition": "An autosomal dominant neoplasia syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Affected individuals usually present with bilateral vestibular schwannomas but can have schwannomas on other cranial, spinal, and peripheral/cutaneous nerves. Meningiomas are common, whereas 20 to 35% of affected individuals develop intramedullary spinal cord tumors called ependymomas. The condition is also characterized by several ophthalmic features such as lenticular opacities, retinal hamartoma, epiretinal membranes. ",
"keywords": null
},
{
"identifier": "Acne inversa, familial, 1.",
"acronym": "ACNINV1.",
"accession": "DI-02995",
"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, 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
},
{
"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": "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": "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": "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": "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": "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": "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": "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 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": "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": "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": "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": "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": "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": "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.; "
}
]
}