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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6260&ordering=-synonyms",
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"results": [
{
"identifier": "Indifference to pain, congenital, autosomal recessive.",
"acronym": "CIP.",
"accession": "DI-01231",
"synonyms": "Asymbolia for pain.; Channelopathy-associated insensitivity to pain.; Congenital analgesia autosomal recessive.; ",
"cross_references": "MeSH; D000699.",
"definition": "A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating. ",
"keywords": null
},
{
"identifier": "Glioma.",
"acronym": "GLM.",
"accession": "DI-02566",
"synonyms": "Astrocytoma.; Familial glioma of brain.; GBM.; Glioblastoma multiforme.; GLM.; Oligodendroglioma.; ",
"cross_references": "MeSH; D005910.",
"definition": "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ",
"keywords": null
},
{
"identifier": "Right atrial isomerism.",
"acronym": "RAI.",
"accession": "DI-03896",
"synonyms": "Asplenia with cardiovascular anomalies.; Heterotaxy, visceroatrial, autosomal recessive.; Ivemark syndrome.; Polyasplenia.; VAH, autosomal recessive.; ",
"cross_references": "MeSH; D059446.",
"definition": "A severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. ",
"keywords": null
},
{
"identifier": "Short-rib thoracic dysplasia 5 with or without polydactyly.",
"acronym": "SRTD5.",
"accession": "DI-03325",
"synonyms": "Asphyxiating thoracic dystrophy 5.; ATD5.; JATD.; Jeune asphyxiating thoracic dystrophy.; Jeune syndrome 5.; ",
"cross_references": "MeSH; D012779.",
"definition": "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Short-rib thoracic dysplasia 4 with or without polydactyly.",
"acronym": "SRTD4.",
"accession": "DI-03067",
"synonyms": "Asphyxiating thoracic dystrophy 4.; ATD4.; JATD.; Jeune asphyxiating thoracic dystrophy.; Jeune syndrome 4.; ",
"cross_references": "MeSH; D012779.",
"definition": "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Short-rib thoracic dysplasia 3 with or without polydactyly.",
"acronym": "SRTD3.",
"accession": "DI-02583",
"synonyms": "Asphyxiating thoracic dystrophy 3.; ATD3.; JATD.; Jeune asphyxiating thoracic dystrophy.; Jeune syndrome 3.; Majewski syndrome.; Polydactyly with neonatal chondrodystrophy type I.; Polydactyly with neonatal chondrodystrophy type III.; Saldino-Noonan syndrome.; Short rib-polydactyly syndrome type I.; Short rib-polydactyly syndrome type IIB.; Short rib-polydactyly syndrome type III.; SRPS1.; SRPS2B.; SRPS3.; SRPS type IIB.; SRPS type III.; Verma-Naumoff syndrome.; ",
"cross_references": "MeSH; D012779.",
"definition": "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Short-rib thoracic dysplasia 2 with or without polydactyly.",
"acronym": "SRTD2.",
"accession": "DI-01192",
"synonyms": "Asphyxiating thoracic dystrophy 2.; ATD2.; JATD.; Jeune asphyxiating thoracic dystrophy.; Jeune syndrome 2.; ",
"cross_references": "MeSH; D012779.",
"definition": "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Autism, X-linked 2.",
"acronym": "AUTSX2.",
"accession": "DI-02432",
"synonyms": "Asperger syndrome, X-linked, 2.; ASPGX2.; Intellectual developmental disorder, X-linked.; ",
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Autism, X-linked 1.",
"acronym": "AUTSX1.",
"accession": "DI-02431",
"synonyms": "Asperger syndrome, X-linked, 1.; ASPGX1.; ",
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Asparagine synthetase deficiency.",
"acronym": "ASNSD.",
"accession": "DI-03985",
"synonyms": "ASNS deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "An inborn error of asparagine biosynthesis that results in a severe neurologic disorder characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, cortical atrophy, and seizure or hyperekplexic activity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Ewing sarcoma.",
"acronym": "ES.",
"accession": "DI-02610",
"synonyms": "Askin tumor.; ESFT.; Ewing's tumor.; Ewing sarcoma family of tumors.; Extraosseous Ewing tumor.; Peripheral neuroepithelioma.; PNE.; PNET.; PNET of the chest wall.; Primitive neuroectodermal tumor.; ",
"cross_references": "MeSH; D012512.",
"definition": "A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial hypertrophic.",
"acronym": "CMH.",
"accession": "DI-00232",
"synonyms": "ASH.; Asymmetric septal hypertrophy.; Familial hypertrophic cardiomyopathy.; FHC.; HCM.; Hypertrophic cardiomyopathy.; Hypertrophic subaortic stenosis, idiopathic.; Ventricular hypertrophy, hereditary.; ",
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Avascular necrosis of femoral head, primary, 1.",
"acronym": "ANFH1.",
"accession": "DI-02197",
"synonyms": "Aseptic necrosis of femoral head.; Avascular necrosis of femoral head.; Ischemic necrosis of femoral head.; Osteonecrosis of femoral head.; ",
"cross_references": "MeSH; D005271.",
"definition": "A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ANFH1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Atrial septal defect 7, with or without atrioventricular conduction defects.",
"acronym": "ASD7.",
"accession": "DI-00153",
"synonyms": "ASD with atrioventricular conduction defects.; ASD with or without atrioventricular conduction defects.; Atrial septal defect 7 with or without AV conduction defects.; ",
"cross_references": "MeSH; D006344.",
"definition": "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria, and atrioventricular conduction defects in some cases. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Impaired intellectual development and distinctive facial features with or without cardiac defects.",
"acronym": "MRFACD.",
"accession": "DI-04642",
"synonyms": "Asadollahi-Rauch syndrome.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant syndrome characterized by intellectual disability, delayed psychomotor development, profound language impairment, and facial dysmorphism, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Progressive pseudorheumatoid dysplasia.",
"acronym": "PPRD.",
"accession": "DI-02213",
"synonyms": "Arthropathy, progressive pseudorheumatoid, of childhood.; PPAC.; PPD.; Progressive pseudorheumatoid arthropathy of childhood.; SEDT-PA.; Spondyloepiphyseal dysplasia tarda with progressive arthropathy;.; ",
"cross_references": "MeSH; D007592.",
"definition": "An autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging. ",
"keywords": null
},
{
"identifier": "Camptodactyly-arthropathy-coxa vara-pericarditis syndrome.",
"acronym": "CACP.",
"accession": "DI-01313",
"synonyms": "Arthropathy-camptodactyly syndrome.; Camptodactyly-arthropathy-pericarditis syndrome.; CAP syndrome.; Fibrosing serositis, familial.; Hypertrophic synovitis, congenital familial.; Jacobs syndrome.; PAC syndrome.; Pericarditis-arthropathy-camptodactyly syndrome.; ",
"cross_references": "MeSH; D060905.",
"definition": "An autosomal recessive disorder characterized by the association of congenital or early-onset camptodactyly and non-inflammatory arthropathy with synovial hyperplasia. Individuals with CACP have normal appearing joints at birth but with advancing age develop joint failure, non-inflammatory synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule. Some patients also manifest progressive coxa vara deformity and/or non-inflammatory pericardial or pleural effusions. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 5.",
"acronym": "DA5.",
"accession": "DI-04009",
"synonyms": "Arthrogryposis with oculomotor limitation and electroretinal abnormalities.; DAIIB.; Distal arthrogryposis type IIB.; Oculomelic amyoplasia.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, renal dysfunction and cholestasis syndrome 2.",
"acronym": "ARCS2.",
"accession": "DI-02624",
"synonyms": "Arthrogryposis renal dysfunction and cholestasis 2.; ",
"cross_references": "MeSH; D051437.",
"definition": "A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common. ",
"keywords": null
},
{
"identifier": "Fetal akinesia deformation sequence 1.",
"acronym": "FADS1.",
"accession": "DI-01615",
"synonyms": "Arthrogryposis multiplex congenita with pulmonary hypoplasia.; FADS.; Fetal akinesia deformation sequence.; Fetal akinesia sequence.; Pena-Shokeir syndrome type 1.; ",
"cross_references": "MeSH; D005317.",
"definition": "A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS1 inheritance is autosomal recessive. ",
"keywords": null
}
]
}