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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5780&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5740&ordering=-synonyms",
"results": [
{
"identifier": "Gerstmann-Straussler disease.",
"acronym": "GSD.",
"accession": "DI-01656",
"synonyms": "Cerebellar ataxia, progressive dementia, and amyloid deposits in CNS.; Cerebral amyloidosis with spongiform encephalopathy.; Gerstmann-Straussler-Scheinker disease.; GSS.; Prion dementia.; Subacute spongiform encephalopathy Gerstmann-Straussler type.; ",
"cross_references": "MeSH; D016098.",
"definition": "A rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. GSD presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Cerebral amyloid angiopathy, ITM2B-related 2.",
"acronym": "CAA-ITM2B2.",
"accession": "DI-02617",
"synonyms": "Cerebellar ataxia cataract deafness and dementia or psychosis.; Familial Danish dementia.; FDD.; Heredopathia ophthalmootoencephalica.; HOOE.; ",
"cross_references": "MeSH; D028243.",
"definition": "A disorder characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina. Plaques and neurofibrillary tangles are observed in the hippocampus. Clinical features include progressive ataxia, dementia, cataracts and deafness. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Spinocerebellar ataxia 27A.",
"acronym": "SCA27A.",
"accession": "DI-01080",
"synonyms": "Cerebellar ataxia, autosomal dominant, FGF14-related.; NYS4.; Nystagmus 4, congenital, autosomal dominant.; SCA27.; Spinocerebellar ataxia 27.; Vestibulocerebellar disorder with predominant ocular signs.; ",
"cross_references": "MeSH; D020754.",
"definition": "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27A is an autosomal dominant, slowly progressive form characterized by gait disturbances, ataxia with tremor, dysarthria, orofacial dyskinesia, gaze-evoked nystagmus, and learning disabilities. There is significant variability, and patients show various combinations of neurologic features. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Immunodeficiency-centromeric instability-facial anomalies syndrome 1.",
"acronym": "ICF1.",
"accession": "DI-01813",
"synonyms": "Centromeric instability immunodeficiency syndrome.; CIID.; ICF syndrome.; Variable immune deficiency with centromeric instability of chromosomes 1 9 and 16.; Variable immunodeficiency syndrome.; ",
"cross_references": "MeSH; D043171.",
"definition": "A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. ",
"keywords": null
},
{
"identifier": "Abdominal obesity-metabolic syndrome 3.",
"acronym": "AOMS3.",
"accession": "DI-04090",
"synonyms": "Central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease.; ",
"cross_references": "MeSH; D024821.",
"definition": "A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS3 is characterized by early-onset coronary artery disease, central obesity, hypertension, and diabetes. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0550:Obesity.; "
},
{
"identifier": "Lymphatic malformation 7.",
"acronym": "LMPHM7.",
"accession": "DI-04930",
"synonyms": "Central conduction lymphatic anomaly.; HFASD.; Hydrops fetalis, non-immune, and/or atrial septal defect.; ",
"cross_references": "MeSH; D008209.",
"definition": "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults. ",
"keywords": null
},
{
"identifier": "Cenani-Lenz syndactyly syndrome.",
"acronym": "CLSS.",
"accession": "DI-02834",
"synonyms": "Cenani-Lenz syndactyly.; Cenani-Lenz syndrome.; Cenani syndactylism.; Syndactyly type 7.; Syndactyly type VII.; ",
"cross_references": "MeSH; D013576.",
"definition": "A congenital malformation syndrome defined as complete and complex syndactyly of the hands combined with malformations of the forearm bones and similar manifestations in the lower limbs. It is characterized by fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet. ",
"keywords": null
},
{
"identifier": "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome.",
"acronym": "CEDNIK.",
"accession": "DI-00251",
"synonyms": "CEDNIK syndrome.; ",
"cross_references": "MeSH; D020752.",
"definition": "A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. ",
"keywords": "KW-0622:Neuropathy.; KW-0977:Ichthyosis.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Camurati-Engelmann disease.",
"acronym": "CAEND.",
"accession": "DI-01314",
"synonyms": "CED.; Diaphyseal dysplasia 1, progressive.; DPD1.; Engelmann disease.; PDD.; Progressive diaphyseal dysplasia.; ",
"cross_references": "MeSH; D003966.",
"definition": "An autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision. ",
"keywords": null
},
{
"identifier": "Focal cortical dysplasia 2.",
"acronym": "FCORD2.",
"accession": "DI-04980",
"synonyms": "CDT.; CDTBC.; CDTD.; Cortical dysplasia of Taylor.; Cortical dysplasia of Taylor, dysplasia only.; Cortical dysplasia of Taylor with balloon cells.; Cortical dysplasia of Taylor without balloon cells.; FCD2.; FCD IIA.; FCD IIB.; FCDT.; FCORD2A.; FCORD2B.; Focal cortical dysplasia, type II.; Focal cortical dysplasia, type IIA.; Focal cortical dysplasia, type IIB.; Focal cortical dysplasia of Taylor.; Focal cortical dysplasia type 2.; ",
"cross_references": "MeSH; D001927.",
"definition": "A form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes: type IIA characterized by dysmorphic neurons and lack of balloon cells; type IIB with dysmorphic neurons and balloon cells. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Rhizomelic chondrodysplasia punctata 1.",
"acronym": "RCDP1.",
"accession": "DI-01001",
"synonyms": "CDPR.; Chondrodysplasia punctata, rhizomelic form.; Chondrodystrophia calcificans punctata.; PBD9.; Peroxisome biogenesis disorder 9.; Rhizomelic chondrodysplasia punctata, type 1.; ",
"cross_references": "MeSH; D018902.",
"definition": "A peroxisome biogenesis disorder. It is characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity. ",
"keywords": "KW-0685:Rhizomelic chondrodysplasia punctata.; KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Corneal dystrophy and perceptive deafness.",
"acronym": "CDPD.",
"accession": "DI-01426",
"synonyms": "CDPD1.; Corneal dystrophy and sensorineural deafness.; Corneal endothelial dystrophy and perceptive deafness.; Harboyan syndrome.; ",
"cross_references": "MeSH; D003317.",
"definition": "An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss. ",
"keywords": "KW-0209:Deafness.; KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development.",
"acronym": "MCLMR.",
"accession": "DI-03432",
"synonyms": "CDMMR syndrome.; Lymphedema and retinal folds with microcephaly and microphthalmos.; Lymphedema microcephaly chorioretinopathy syndrome.; Microcephaly lymphedema chorioretinal dysplasia syndrome.; MLCRD syndrome.; ",
"cross_references": "MeSH; D008831.",
"definition": "An autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes. ",
"keywords": null
},
{
"identifier": "Diabetes insipidus, neurohypophyseal.",
"acronym": "NDI.",
"accession": "DI-01217",
"synonyms": "CDI.; Diabetes insipidus cranial type.; Neurogenic diabetes insipidus.; Primary central diabetes insipidus.; ",
"cross_references": "MeSH; D020790.",
"definition": "A disease characterized by persistent thirst, polydipsia and polyuria. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood. ",
"keywords": "KW-0218:Diabetes insipidus.; "
},
{
"identifier": "Congenital disorder of glycosylation 1Y.",
"acronym": "CDG1Y.",
"accession": "DI-04259",
"synonyms": "CDGIy.; CDG Iy.; CDG-Iy.; Congenital disorder of glycosylation type Iy.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 1X.",
"acronym": "CDG1X.",
"accession": "DI-04007",
"synonyms": "CDGIx.; CDG Ix.; CDG-Ix.; Congenital disorder of glycosylation type Ix.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 1U.",
"acronym": "CDG1U.",
"accession": "DI-03685",
"synonyms": "CDGIu.; CDG Iu.; CDG-Iu.; Congenital disorder of glycosylation type Iu.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1U patients have dystrophic changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha- dystroglycan. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Congenital disorder of glycosylation 1T.",
"acronym": "CDG1T.",
"accession": "DI-03611",
"synonyms": "CDGIt.; CDG It.; CDG-It.; Congenital disorder of glycosylation type It.; Glycogen storage disease XIV.; GSD14.; GSD XIV.; PGM1 deficiency.; Phosphoglucomutase 1 deficiency.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ",
"keywords": "KW-0322:Glycogen storage disease.; KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 1R.",
"acronym": "CDG1R.",
"accession": "DI-03397",
"synonyms": "CDGIr.; CDG Ir.; CDG-Ir.; Congenital disorder of glycosylation 1r.; Congenital disorder of glycosylation type Ir.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 1Q.",
"acronym": "CDG1Q.",
"accession": "DI-02863",
"synonyms": "CDGIq.; CDG Iq.; CDG-Iq.; Congenital disorder of glycosylation 1q.; Congenital disorder of glycosylation type Iq.; Ocular coloboma ichthyosis brain malformations and endocrine abnormalities.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
}
]
}