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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6600&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6560&ordering=-synonyms",
"results": [
{
"identifier": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency.",
"acronym": "ADASCID.",
"accession": "DI-01016",
"synonyms": "ADA deficiency.; Adenosine deaminase deficiency.; SCID due to ADA deficiency.; Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell negative/NK-cell negative due to adenosine deaminase deficiency.; Severe combined immunodeficiency autosomal recessive T-cell-negative/B cell-negative/NK cell-negative due to adenosine deaminase deficiency.; Severe combined immunodeficiency due to ADA deficiency.; ",
"cross_references": "MeSH; D016511.",
"definition": "An autosomal recessive disorder accounting for about 50% of non-X- linked SCIDs. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell- mediated cellular immunity due to a defect in T-cell development. ADA deficiency has been diagnosed in chronically ill teenagers and adults (late or adult onset). Population and newborn screening programs have also identified several healthy individuals with normal immunity who have partial ADA deficiency. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome.",
"acronym": "VAIHS.",
"accession": "DI-04055",
"synonyms": "ADA2 deficiency.; PAN.; Periarteritis nodosa.; Polyarteritis nodosa.; ",
"cross_references": "MeSH; D010488.",
"definition": "An autosomal recessive, systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly. ",
"keywords": null
},
{
"identifier": "Cerebral amyloid angiopathy, CST3-related.",
"acronym": "CAA-CST3.",
"accession": "DI-00102",
"synonyms": "ACys.; CAA.; Cerebral amyloid angiopathy.; Cerebral amyloid angiopathy CST3-related.; Cerebroarterial amyloidosis Icelandic type.; Cystatin C amyloidosis.; HCCAA.; HCHWA.; HCHWAI.; HCHWA-I.; Hereditary cerebral hemorrhage with amyloidosis.; Hereditary cerebral hemorrhage with amyloidosis Icelandic type.; Hereditary cystatin C amyloid angiopathy.; ",
"cross_references": "MeSH; D028243.",
"definition": "An autosomal dominant disorder characterized by cystatin C amyloid accumulation in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in intracranial hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Canavan disease.",
"acronym": "CAND.",
"accession": "DI-00208",
"synonyms": "ACY2 deficiency.; Aminoacylase 2 deficiency.; ASPA deficiency.; Aspartoacylase deficiency.; Canavan-van Bogaert-Bertrand disease.; Spongy degeneration of central nervous system.; ",
"cross_references": "MeSH; D017825.",
"definition": "A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demyelination that gives rise to a spongy appearance. The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Spinocerebellar ataxia 29.",
"acronym": "SCA29.",
"accession": "DI-03660",
"synonyms": "ACV.; Aplasia of cerebellar vermis.; Autosomal dominant congenital nonprogressive cerebellar ataxia.; Cerebellar vermis aplasia.; CNPCA.; ",
"cross_references": "MeSH; D020754.",
"definition": "An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Myoglobinuria, acute recurrent, autosomal recessive.",
"acronym": "ARARM.",
"accession": "DI-01227",
"synonyms": "Acute recurrent rhabdomyolysis.; Familial paroxysmal paralytic myoglobinuria.; ",
"cross_references": "MeSH; D009212.",
"definition": "Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. ",
"keywords": null
},
{
"identifier": "Gaucher disease 2.",
"acronym": "GD2.",
"accession": "DI-01648",
"synonyms": "Acute neuronopathic Gaucher disease.; Gaucher disease type II.; GD II.; ",
"cross_references": "MeSH; D005776.",
"definition": "The most severe form of Gaucher disease, 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. GD2 is an acute neuronopathic form that manifests soon after birth, with death generally occurring before patients reach two years of age. Clinical features include hepatosplenomegaly, developmental regression, growth arrest, and rapidly progressing neurologic deterioration. ",
"keywords": null
},
{
"identifier": "Leukemia, acute myelogenous.",
"acronym": "AML.",
"accession": "DI-01171",
"synonyms": "Acute myeloblastic leukemia.; Acute myelocytic leukemia.; Acute myeloid leukemia.; Acute non-lymphoblastic leukemia.; Acute non-lymphocytic leukemia.; ",
"cross_references": "MeSH; D015470.",
"definition": "A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. ",
"keywords": null
},
{
"identifier": "Liver failure, infantile, transient.",
"acronym": "LFIT.",
"accession": "DI-02634",
"synonyms": "Acute infantile liver failure.; Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect.; ",
"cross_references": "MeSH; D017093.",
"definition": "A transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence. ",
"keywords": null
},
{
"identifier": "Cataract 4, multiple types.",
"acronym": "CTRCT4.",
"accession": "DI-01456",
"synonyms": "Aculeiform cataract.; CACA.; Cataract 4, multiple types, with or without microcornea.; CCA3.; CCP.; Congenital cataract blue dot type 3.; Congenital cataract cerulean type 3.; Congenital non-nuclear polymorphic cataract.; Crystalline aculeiform cataract.; PCC.; Punctate, progressive juvenile-onset, cataract.; ",
"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. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non- nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital 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. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Blau syndrome.",
"acronym": "BLAUS.",
"accession": "DI-01286",
"synonyms": "ACUG.; Arthrocutaneouveal granulomatosis.; EOS.; Familial granulomatosis blau type.; Familial granulomatous inflammatory arthritis dermatitis and uveitis.; Familial juvenile systemic granulomatosis.; Jabs syndrome.; Sarcoidosis, early-onset.; ",
"cross_references": "MeSH; D014605.",
"definition": "An autosomal dominant inflammatory disorder characterized by the formation of immune granulomas invading the skin, joints and eye. Other organs may be involved. Clinical manifestations are variable and include early-onset granulomatous arthritis, uveitis and skin rash. Blindness, joint destruction and visceral involvement have been reported in severe cases. ",
"keywords": null
},
{
"identifier": "Metachromatic leukodystrophy due to saposin B deficiency.",
"acronym": "MLDSAPB.",
"accession": "DI-02744",
"synonyms": "Activator deficiency.; Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency.; Saposin B deficiency.; ",
"cross_references": "MeSH; D007966.",
"definition": "A form of metachromatic leukodystrophy biochemically characterized by tissue accumulation of cerebroside-3-sulfate, saposin B deficiency, and normal arylsulfatase A activity. Clinical manifestations include periventricular white matter abnormalities, demyelination, and peripheral neuropathy. Additional neurological features include dysarthria, ataxic gait, psychomotor regression, seizures, cognitive decline and spastic quadriparesis. ",
"keywords": "KW-0478:Metachromatic leukodystrophy.; "
},
{
"identifier": "Thrombophilia due to activated protein C resistance.",
"acronym": "THPH2.",
"accession": "DI-01101",
"synonyms": "Activated protein C resistance.; APC resistance.; PCCF deficiency.; PROC cofactor deficiency.; Thrombophilia due to deficiency of activated protein C cofactor.; Thrombophilia due to factor V Leiden.; Thrombophilia V.; ",
"cross_references": "MeSH; D020016.",
"definition": "A hemostatic disorder due to defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis. ",
"keywords": "KW-0792:Thrombophilia.; "
},
{
"identifier": "Immunodeficiency 14A with lymphoproliferation, autosomal dominant.",
"acronym": "IMD14A.",
"accession": "DI-03995",
"synonyms": "Activated PI3K-delta immunodeficiency syndrome.; Activated PI3K-delta syndrome.; APDS.; p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency.; PASLI.; ",
"cross_references": "MeSH; D007153.",
"definition": "A disorder characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, reduced immunoglobulin G2 levels in serum, and impaired vaccine responses. ",
"keywords": null
},
{
"identifier": "Epilepsy, progressive myoclonic 4, with or without renal failure.",
"acronym": "EPM4.",
"accession": "DI-01169",
"synonyms": "Action myoclonus-renal failure syndrome.; AMRF.; Myoclonus-nephropathy syndrome.; ",
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM4 is an autosomal recessive form associated with renal failure in some cases. Cognitive function is preserved. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Achalasia-addisonianism-alacrima syndrome.",
"acronym": "AAAS.",
"accession": "DI-00018",
"synonyms": "ACTH-resistant adrenal insufficiency with achalasia and alacrima.; Addisonian-achalasia syndrome.; Alacrima-achalasia-addisonianism.; Alacrima-achalasia-adrenal insufficiency neurologic disorder.; Allgrove's syndrome.; Allgrove syndrome.; Glucocorticoid deficiency and achalasia.; Hypoadrenalism with achalasia.; Triple-A syndrome.; ",
"cross_references": "MeSH; D000309.",
"definition": "An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. ",
"keywords": null
},
{
"identifier": "Glucocorticoid deficiency 1.",
"acronym": "GCCD1.",
"accession": "DI-01669",
"synonyms": "ACTH resistance.; Adrenal unresponsiveness to ACTH.; Familial glucocorticoid deficiency 1.; FGD1.; Hereditary unresponsiveness to adrenocorticotropic hormone.; Isolated glucocorticoid deficiency.; ",
"cross_references": "MeSH; D000309.",
"definition": "A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. ",
"keywords": null
},
{
"identifier": "ACTH-independent macronodular adrenal hyperplasia 1.",
"acronym": "AIMAH1.",
"accession": "DI-01167",
"synonyms": "ACTH-independent Cushing syndrome.; ACTH-independent macronodular adrenocortical hyperplasia.; Adrenal Cushing syndrome due to AIMAH.; Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia.; Corticotropin-independent macronodular adrenal hyperplasia.; ",
"cross_references": "MeSH; D003480.",
"definition": "A rare adrenal defect characterized by multiple, bilateral, non- pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. ",
"keywords": "KW-1062:Cushing syndrome.; "
},
{
"identifier": "Hyperaldosteronism, familial, 1.",
"acronym": "HALD1.",
"accession": "DI-02693",
"synonyms": "ACTH-dependent hyperaldosteronism syndrome.; Aldosteronism sensitive to dexamethasone.; Dexamethasone sensitive hypertension.; Familial hyperaldosteronism 1.; Familial hyperaldosteronism type I.; FH1.; FH I.; FH type 1.; Glucocorticoid-remediable aldosteronism.; Glucocorticoid sensitive hypertension.; Glucocorticoid-suppressible hyperaldosteronism.; GRA.; GSH.; ",
"cross_references": "MeSH; D006929.",
"definition": "A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 2A, typical, autosomal dominant.",
"acronym": "CMYP2A.",
"accession": "DI-02034",
"synonyms": "ACTA1-related nemaline myopathy.; Actin myopathy congenital with cores.; Myopathy, actin, congenital, with excess of thin myofilaments.; NEM3.; Nemaline myopathy 3.; Nemaline myopathy 3 with intranuclear rods.; ",
"cross_references": "MeSH; D017696.",
"definition": "A muscular disorder characterized by generalized muscle weakness, delayed motor milestones, hypotonia, and muscle fiber abnormalities on histologic examination. Histologic findings include abnormal thread- or rod-like structures (nemaline rods), intranuclear rods, clumped filaments, cores, or fiber-type disproportion. The spectrum of clinical phenotypes ranges from severe neonatal presentations to onset of a milder disorder in childhood. ",
"keywords": "KW-1057:Nemaline myopathy.; "
}
]
}