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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1400&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1360&ordering=synonyms",
"results": [
{
"identifier": "Epilepsy, early-onset, 5, with or without developmental delay.",
"acronym": "EPEO5.",
"accession": "DI-03870",
"synonyms": "Cortical myoclonic tremor with epilepsy, familial, 5.; Epilepsy, familial adult myoclonic, 5.; FAME5.; Familial cortical myoclonic tremor with epilepsy 5.; FCMTE5.; ",
"cross_references": "MeSH; D004831.",
"definition": "An autosomal recessive neurologic disorder characterized by a combination of various seizure types with onset in the first decade of life or during adolescence. Most patients have developmental delay, impaired intellectual development, and behavioral abnormalities. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Glucocorticoid resistance.",
"acronym": "GCRES.",
"accession": "DI-01671",
"synonyms": "Cortisol resistance.; ",
"cross_references": "MedGen; C1841982.",
"definition": "Hypertensive, hyperandrogenic disorder characterized by increased serum cortisol concentrations. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Spondylocostal dysostosis 1, autosomal recessive.",
"acronym": "SCDO1.",
"accession": "DI-01081",
"synonyms": "Costovertebral dysplasia.; Jarcho-Levin syndrome.; Spondylothoracic dysostosis.; Spondylothoracic dysplasia.; ",
"cross_references": "MeSH; D004413.",
"definition": "A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondylocostal dysostosis 5.",
"acronym": "SCDO5.",
"accession": "DI-04021",
"synonyms": "Costovertebral segmentation anomalies.; Scoliosis, congenital, with or without rib anomalies.; Spondylocostal dysplasia.; Spondylothoracic dysostosis.; TACS.; ",
"cross_references": "MeSH; D004413.",
"definition": "A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. SCDO5 inheritance can be autosomal dominant or recessive. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Robinow syndrome, autosomal recessive 1.",
"acronym": "RRS1.",
"accession": "DI-02247",
"synonyms": "Costovertebral segmentation defect with mesomelia.; COVESDEM syndrome.; Robinow syndrome autosomal recessive with aplasia/hypoplasia of phalanges and metacarpals/metatarsals.; Robinow syndrome autosomal recessive with brachy-syn-polydactyly.; ",
"cross_references": "MeSH; D019465.",
"definition": "A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Warfarin sensitivity, X-linked.",
"acronym": "WARFS.",
"accession": "DI-05867",
"synonyms": "Coumarin sensitivity, X-linked.; ",
"cross_references": "MeSH; D004351.",
"definition": "A condition characterized by sensitivity to warfarin, a drugs used as anti-coagulants for the prevention of thromboembolic diseases in subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. Warfarin sensitive individuals develop bleeding complications when they are given warfarin within the therapeutic ranges. ",
"keywords": null
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 5.",
"acronym": "MC4DN5.",
"accession": "DI-01887",
"synonyms": "COX deficiency, French Canadian type.; COX deficiency, Saguenay-Lac-Saint-Jean type.; Cytochrome c oxidase deficiency, French Canadian type.; Leigh syndrome, French-Canadian type.; Leigh syndrome, Saguenay-Lac-Saint-Jean type.; LSFC.; ",
"cross_references": "MeSH; D030401.",
"definition": "An autosomal recessive, severe mitochondrial disease with multisystemic manifestations and early onset. Clinical features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. Brain imaging shows bilaterally symmetrical necrotic lesions in subcortical brain regions. Mortality is high, due to episodes of severe metabolic acidosis and coma. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension.",
"acronym": "ICPPS.",
"accession": "DI-02312",
"synonyms": "Coxopodopatellar syndrome.; Ischiopatellar dysplasia.; Patella aplasia, coxa vara, and tarsal synostosis.; Scott-Taor syndrome.; Small patella syndrome.; SPS.; ",
"cross_references": "MeSH; D001848.",
"definition": "An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. ",
"keywords": null
},
{
"identifier": "Cleft palate isolated.",
"acronym": "CPI.",
"accession": "DI-01837",
"synonyms": "CP.; ",
"cross_references": "MeSH; D002972.",
"definition": "A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, intellectual disability, and osteoporosis. ",
"keywords": null
},
{
"identifier": "Cataract 31, multiple types.",
"acronym": "CTRCT31.",
"accession": "DI-02183",
"synonyms": "CPP3.; CTPP3.; Posterior polar cataract 3.; ",
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT31 includes posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular cataracts. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cardiac arrhythmia syndrome, with or without skeletal muscle weakness.",
"acronym": "CARDAR.",
"accession": "DI-03912",
"synonyms": "CPVT5.; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness.; ",
"cross_references": "MeSH; D017180.",
"definition": "An autosomal recessive cardiac disorder characterized by stress- induced arrhythmias in infancy or early childhood. Patients present with recurrent syncope or cardiac arrest after physical activity or emotional stress. Sudden death may occur in early childhood. Some patients have muscle weakness. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 2A.",
"acronym": "DA2A.",
"accession": "DI-01492",
"synonyms": "Craniocarpotarsal dysplasia.; Craniocarpotarsal dystrophy.; Freeman-Sheldon syndrome.; FSS.; Whistling face-windmill vane hand syndrome.; ",
"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. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and a H-shaped dimple of the chin. ",
"keywords": null
},
{
"identifier": "Cranioectodermal dysplasia 1.",
"acronym": "CED1.",
"accession": "DI-02715",
"synonyms": "Cranio-ectodermal dysplasia.; Levin syndrome I.; Sensenbrenner syndrome.; ",
"cross_references": "MeSH; D004476.",
"definition": "A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1186:Ciliopathy.; "
},
{
"identifier": "CEBALID syndrome.",
"acronym": "CEBALID.",
"accession": "DI-05758",
"synonyms": "Craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development.; MCTT.; MN1 C-terminal truncation syndrome.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant developmental disorder characterized by global developmental delay, intellectual disability with severe expressive language delay, craniofacial dysmorphism, and structural brain abnormalities. Most patients have an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres. Other frequent features include perisylvian polymicrogyria, abnormal posterior clinoid processes, cerebellar hypoplasia or dysplasia, and persistent trigeminal artery. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cousin syndrome.",
"acronym": "COUSS.",
"accession": "DI-01439",
"synonyms": "Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature.; ",
"cross_references": "MedGen; C1850040.",
"definition": "Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and a low hairline). Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synosthosis, dislocation of the femoral heads, and moderate brachydactyly. ",
"keywords": null
},
{
"identifier": "Fontaine progeroid syndrome.",
"acronym": "FPS.",
"accession": "DI-05183",
"synonyms": "Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence.; GCMS.; Gorlin-Chaudhry-Moss syndrome.; Progeroid syndrome, congenital, Petty type.; ",
"cross_references": "MeSH; D019588.",
"definition": "An autosomal dominant progeroid disorder characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, wrinkled skin, an aged appearance since birth, an abnormal scalp hair pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis. Early death is observed in some patients. ",
"keywords": null
},
{
"identifier": "Curry-Jones syndrome.",
"acronym": "CRJS.",
"accession": "DI-04790",
"synonyms": "Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development.; Curry Jones syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. ",
"keywords": null
},
{
"identifier": "Mandibuloacral dysplasia with type A lipodystrophy.",
"acronym": "MADA.",
"accession": "DI-01932",
"synonyms": "Craniomandibular dermatodysostosis.; Lipodystrophy type A associated with mandibuloacral dysplasia.; Mandibuloacral dysplasia with type A lipodystrophy atypical.; Tendinous calcinosis arthropathy and progeroid features.; ",
"cross_references": "MeSH; D030981.",
"definition": "A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADA is an autosomal recessive disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased. ",
"keywords": null
},
{
"identifier": "Otopalatodigital syndrome 2.",
"acronym": "OPD2.",
"accession": "DI-02114",
"synonyms": "Cranioorodigital syndrome.; ",
"cross_references": "MedGen; C1844696.",
"definition": "Congenital bone disorder that is characterized by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects. ",
"keywords": null
},
{
"identifier": "Craniosynostosis 1.",
"acronym": "CRS1.",
"accession": "DI-01447",
"synonyms": "Craniostenosis.; CRS.; ",
"cross_references": "MeSH; D003398.",
"definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ",
"keywords": "KW-0989:Craniosynostosis.; "
}
]
}