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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1180&ordering=-synonyms",
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"results": [
{
"identifier": "Anemia, hypochromic microcytic, with iron overload 2.",
"acronym": "AHMIO2.",
"accession": "DI-03728",
"synonyms": null,
"cross_references": "MeSH; D000747.",
"definition": "A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size, severe anemia, erythropoietic hyperplasia of bone marrow, massive hepatic iron deposition, and hepatosplenomegaly. ",
"keywords": null
},
{
"identifier": "Cleidocranial dysplasia 2.",
"acronym": "CLCD2.",
"accession": "DI-06534",
"synonyms": null,
"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. Craniofacial features are subtle and characterized by prominent parietal and frontal bones, widely spaced eyes, depressed nasal bridge and small maxilla. Some CLCD2 patients present mild to moderate developmental delay. CLCD2 inheritance is autosomal dominant. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Atransferrinemia.",
"acronym": "ATRAF.",
"accession": "DI-00145",
"synonyms": null,
"cross_references": "MeSH; D008664.",
"definition": "A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 40.",
"acronym": "COXPD40.",
"accession": "DI-05808",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by prenatal or infantile onset, fetal hydrops, severe hypertrophic cardiomyopathy, poor growth, sensorineural hearing loss, hepatic dysfunction, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in infancy. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "COACH syndrome 2.",
"acronym": "COACH2.",
"accession": "DI-05978",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH2 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; KW-1186:Ciliopathy.; "
},
{
"identifier": "COACH syndrome 3.",
"acronym": "COACH3.",
"accession": "DI-05979",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH3 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Anemia, non-spherocytic hemolytic, due to G6PD deficiency.",
"acronym": "NSHA.",
"accession": "DI-01351",
"synonyms": null,
"cross_references": "MeSH; D000746.",
"definition": "A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Cone-rod dystrophy, X-linked 3.",
"acronym": "CORDX3.",
"accession": "DI-00328",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Beaulieu-Boycott-Innes syndrome.",
"acronym": "BBIS.",
"accession": "DI-03901",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal dominant, 75.",
"acronym": "DFNA75.",
"accession": "DI-05761",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic deafness characterized by late-onset hearing loss that involves mid and high frequencies, and progresses to encompass all frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Beck-Fahrner syndrome.",
"acronym": "BEFAHRS.",
"accession": "DI-05782",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A developmental disorder characterized by mild to severe intellectual disability, global developmental delay, hypotonia, autistic traits, movement disorders, growth abnormalities including overgrowth or poor growth, and facial dysmorphism. Both autosomal dominant and autosomal recessive inheritance has been reported. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Acro-dermato-ungual-lacrimal-tooth syndrome.",
"acronym": "ADULT syndrome.",
"accession": "DI-00028",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 2.",
"acronym": "COQ10D2.",
"accession": "DI-03446",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive multisystem disorder characterized by early- onset deafness, optic atrophy, mild intellectual disability, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 3.",
"acronym": "COQ10D3.",
"accession": "DI-03447",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 51.",
"acronym": "COXPD51.",
"accession": "DI-05943",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, mitochondrial disorder characterized by intrauterine growth retardation, low birth weight, poor overall growth, progressive limb rigidity, delayed psychomotor development, hearing loss, and optic atrophy. Brain imaging shows abnormal bilateral signs at the basal ganglia and brainstem. Patient cells show decreased mitochondrial complex I and IV levels and activities, and generalized mitochondrial translation defects. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 5.",
"acronym": "COQ10D5.",
"accession": "DI-03448",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Corneal dystrophy, Fuchs endothelial, 8.",
"acronym": "FECD8.",
"accession": "DI-03947",
"synonyms": null,
"cross_references": "MeSH; D005642.",
"definition": "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 7.",
"acronym": "COQ10D7.",
"accession": "DI-04354",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 8.",
"acronym": "COQ10D8.",
"accession": "DI-04625",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Holoprosencephaly 13, X-linked.",
"acronym": "HPE13.",
"accession": "DI-05801",
"synonyms": null,
"cross_references": "MeSH; D016142.",
"definition": "An X-linked form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. HPE13 features range from full alobar holoprosencephaly with cyclopia to semilobar holoprosencephaly or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. ",
"keywords": "KW-0370:Holoprosencephaly.; "
}
]
}