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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=900&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=860&ordering=synonyms",
"results": [
{
"identifier": "Camptodactyly, tall stature, and hearing loss syndrome.",
"acronym": "CATSHLS.",
"accession": "DI-01312",
"synonyms": "CATSHL syndrome.; ",
"cross_references": "MeSH; D034381.",
"definition": "An autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and/or intellectual disability, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Congenital bilateral absence of the vas deferens.",
"acronym": "CBAVD.",
"accession": "DI-01389",
"synonyms": "CAVD.; ",
"cross_references": "MeSH; D052801.",
"definition": "An autosomal recessive disease characterized by vas deferens aplasia resulting in azoospermia and male infertility. CBAVD may occur in isolation or as a manifestation of cystic fibrosis. ",
"keywords": null
},
{
"identifier": "Cerebral cavernous malformations 1.",
"acronym": "CCM1.",
"accession": "DI-00255",
"synonyms": "Cavernous angiomatous malformations.; Cavernous hemangioma of the brain.; Cerebral capillary malformations.; Cerebral cavernoma.; Familial cavernous angioma.; ",
"cross_references": "MeSH; D020786.",
"definition": "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Cerebral cavernous malformations 2.",
"acronym": "CCM2.",
"accession": "DI-00256",
"synonyms": "Cavernous angiomatous malformations.; Cavernous hemangioma of the brain.; Cerebral capillary malformations.; Cerebral cavernoma.; Familial cavernous angioma.; ",
"cross_references": "MeSH; D020786.",
"definition": "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Cerebral cavernous malformations 3.",
"acronym": "CCM3.",
"accession": "DI-00257",
"synonyms": "Cavernous angiomatous malformations.; Cavernous hemangioma of the brain.; Cerebral capillary malformations.; Cerebral cavernoma.; Familial cavernous angioma.; ",
"cross_references": "MeSH; D020786.",
"definition": "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Autoimmune disease, multisystem, infantile-onset, 3.",
"acronym": "ADMIO3.",
"accession": "DI-06710",
"synonyms": "CBLB deficiency.; ",
"cross_references": "MeSH; D001327.",
"definition": "An autosomal recessive disorder characterized by autoimmune manifestations apparent in the first months or years of life. Clinical features may include hypothyroidism, type 1 diabetes mellitus, systemic inflammatory manifestations such as fever and hepatomegaly, and autoimmune cytopenias. ",
"keywords": null
},
{
"identifier": "Methylmalonic aciduria and homocystinuria, cblF type.",
"acronym": "MAHCF.",
"accession": "DI-00746",
"synonyms": "cblF.; Cobalamin F disease.; Methylcobalamin deficiency tape F.; Methylmalonic acidemia and homocystinuria cblF type.; Methylmalonic aciduria due to vitamin B12-release defect.; Vitamin B12 lysosomal release defect.; Vitamin B12 storage defect.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12. ",
"keywords": null
},
{
"identifier": "Cystathionine beta-synthase deficiency.",
"acronym": "CBSD.",
"accession": "DI-01464",
"synonyms": "CBS deficiency.; Homocystinuria due to cystathionine beta-synthase deficiency.; Homocystinuria with or without response to pyridoxine.; Hyperhomocysteinemia thrombotic CBS-related.; ",
"cross_references": "MeSH; D006712.",
"definition": "An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, intellectual disability, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. ",
"keywords": null
},
{
"identifier": "Cataract 3, multiple types.",
"acronym": "CTRCT3.",
"accession": "DI-01392",
"synonyms": "CCA2.; Congenital cataract blue dot type 2.; Congenital cataract cerulean type 2.; CSPC.; Sutural cataract with punctate and cerulean opacities.; ",
"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. CTRCT3 includes congenital cerulean and sutural cataract with punctate and cerulean opacities, among others. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Sutural cataract with punctate and cerulean opacities is characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia.",
"acronym": "CMYP1A.",
"accession": "DI-01331",
"synonyms": "CCD.; Central core disease of muscle.; ",
"cross_references": "MeSH; D020512.",
"definition": "An autosomal dominant myopathy characterized by hypotonia and proximal muscle weakness primarily affecting the lower limbs, beginning in infancy or early childhood. Some patients manifest later onset of symptoms. The clinical course of the disorder is usually slow or non- progressive in adulthood, and the severity of the symptoms is variable. Affected individuals typically show delayed motor development and usually achieve independent walking, although many have difficulty running or climbing stairs. Additional features often include mild facial weakness, joint laxity, shoulder girdle weakness, and skeletal manifestations, such as dislocation of the hips, foot deformities, scoliosis, and Achilles tendon contractures. Microscopic examination of affected skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain with oxidative and phosphorylase histochemical techniques. Additional pathologic findings may also be observed on muscle biopsy. CMYP1A affected individuals are at risk for malignant hyperthermia, and both disorders may be present in the same family. ",
"keywords": null
},
{
"identifier": "Cleidocranial dysplasia 1.",
"acronym": "CLCD1.",
"accession": "DI-01353",
"synonyms": "CCD.; CLCD.; Cleidocranial dysostosis.; ",
"cross_references": "MeSH; D002973.",
"definition": "A form of cleidocranial dysplasia, a rare skeletal disorder with significant clinical variability, even within families. Patients typically present with delayed closure of cranial sutures and fontanels with multiple Wormian bones, retarded ossification of the skull, shortening of the distal phalanges, dental anomalies including supernumerary teeth and eruption failure, clavicular hypoplasia or aplasia, wide pubic symphysis, vertebral anomalies, and short stature. CLCD1 inheritance is autosomal dominant. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Central hypoventilation syndrome, congenital, 1.",
"acronym": "CCHS1.",
"accession": "DI-01391",
"synonyms": "CCHS.; Central hypoventilation syndrome, congenital.; Congenital failure of autonomic control.; Ondine curse.; ",
"cross_references": "MeSH; D020182.",
"definition": "An autosomal dominant form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 12.",
"acronym": "LMPHM12.",
"accession": "DI-06490",
"synonyms": "CCLA.; Central conducting lymphatic anomaly.; ",
"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. LMPHM12 is an autosomal recessive, severe form often resulting in fetal or perinatal demise. It is characterized by dysfunction of core collecting lymphatic vessels, including the thoracic duct and cisterna chyli, non-immune hydrops fetalis, chylothorax, pleural effusions, and chylous ascites. ",
"keywords": null
},
{
"identifier": "Cerebrocostomandibular syndrome.",
"acronym": "CCMS.",
"accession": "DI-04367",
"synonyms": "CCM syndrome.; Cerebro-costo-mandibular syndrome.; Rib gap defects with micrognathia.; ",
"cross_references": "MeSH; D008844.",
"definition": "A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Immunodeficiency 63 with lymphoproliferation and autoimmunity.",
"acronym": "IMD63.",
"accession": "DI-05611",
"synonyms": "CD122 deficiency.; Deficiency of interleukin 2 receptor beta.; IL2RB deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by immune dysregulation resulting in lymphoid proliferation, dermatitis, enteropathy, autoantibodies, hypergammaglobulinemia, and immunodeficiency with recurrent infections. Patients show increased susceptibility to viral infections, particularly cytomegalovirus disease. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 41 with lymphoproliferation and autoimmunity.",
"acronym": "IMD41.",
"accession": "DI-04551",
"synonyms": "CD25 deficiency.; IL2RA deficiency.; Interleukin 2 receptor alpha deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "A disorder of immune dysregulation characterized by recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. ",
"keywords": null
},
{
"identifier": "Lymphoproliferative syndrome 2.",
"acronym": "LPFS2.",
"accession": "DI-03702",
"synonyms": "CD27 deficiency.; ",
"cross_references": "MeSH; D008232.",
"definition": "An autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired T-cell-dependent B-cell responses and T-cell dysfunction. The phenotype is highly variable, ranging from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 19.",
"acronym": "IMD19.",
"accession": "DI-04027",
"synonyms": "CD3-delta deficiency.; T cell-negative, B cell-positive, NK cell-positive SCID.; T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Immunodeficiency 18.",
"acronym": "IMD18.",
"accession": "DI-04034",
"synonyms": "CD3-epsilon deficiency.; Immunodeficiency 18, SCID variant.; Immunodeficiency 18, severe combined immunodeficiency variant.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 17.",
"acronym": "IMD17.",
"accession": "DI-04033",
"synonyms": "CD3-gamma deficiency.; SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor dependent stimuli. The phenotype in some patients is reminiscent of severe combined immunodeficiency. ",
"keywords": null
}
]
}