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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=140&ordering=synonyms",
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"results": [
{
"identifier": "Reticulate acropigmentation of Kitamura.",
"acronym": "RAK.",
"accession": "DI-03962",
"synonyms": "Acropigmentatio reticularis.; Kitamura reticulate acropigmentation.; Reticulate pigmentation of Kitamura.; RPK.; ",
"cross_references": "MeSH; D010859.",
"definition": "A rare cutaneous pigmentation disorder characterized by reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet and appearing in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities. The manifestations tend to progress until middle age, after which progression of the eruptions stops. The pigmentary augmentation is found on the flexor aspects of the wrists, neck, patella and olecranon. Other features include breaks in the epidermal ridges on the palms and fingers, palmoplantar pits, occasionally plantar keratoderma, and partial alopecia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 6.",
"acronym": "SPGF6.",
"accession": "DI-01666",
"synonyms": "Acrosome malformation of spermatozoa.; Globozoospermia.; Round-headed spermatozoa.; ",
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon. ",
"keywords": null
},
{
"identifier": "Auriculocondylar syndrome 1.",
"acronym": "ARCND1.",
"accession": "DI-03467",
"synonyms": "ACS.; Dysgnathia complex.; Question mark ears syndrome.; ",
"cross_references": "MeSH; D018640.",
"definition": "An autosomal dominant form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ",
"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.; "
},
{
"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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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.; "
}
]
}