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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=300&ordering=-synonyms",
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"results": [
{
"identifier": "Atrial septal defect 5.",
"acronym": "ASD5.",
"accession": "DI-02497",
"synonyms": null,
"cross_references": "MeSH; D006344.",
"definition": "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Atrial septal defect 9.",
"acronym": "ASD9.",
"accession": "DI-03370",
"synonyms": null,
"cross_references": "MeSH; D006344.",
"definition": "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Atrial septal defect 6.",
"acronym": "ASD6.",
"accession": "DI-02498",
"synonyms": null,
"cross_references": "MeSH; D006344.",
"definition": "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Atrioventricular septal defect 2.",
"acronym": "AVSD2.",
"accession": "DI-01195",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"keywords": null
},
{
"identifier": "Agenesis of the corpus callosum, X-linked, partial.",
"acronym": "ACCPX.",
"accession": "DI-02143",
"synonyms": null,
"cross_references": "MeSH; D055673.",
"definition": "A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, intellectual disability, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients. ",
"keywords": null
},
{
"identifier": "Anemia, congenital dyserythropoietic, 3B, autosomal recessive.",
"acronym": "CDAN3B.",
"accession": "DI-06364",
"synonyms": null,
"cross_references": "MeSH; D000742.",
"definition": "An autosomal recessive blood disorder characterized by marked dyserythropoiesis, hemolytic anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts in the bone marrow. ",
"keywords": "KW-1055:Congenital dyserythropoietic anemia.; "
},
{
"identifier": "Birk-Barel syndrome.",
"acronym": "BIBARS.",
"accession": "DI-02513",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A syndrome characterized by intellectual disability, hypotonia, hyperactivity, and facial dysmorphism. BIBARS transmission pattern is consistent with autosomal dominant inheritance with paternal imprinting. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Birk-Landau-Perez syndrome.",
"acronym": "BILAPES.",
"accession": "DI-05046",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy. ",
"keywords": null
},
{
"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": "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": "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": "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": "Atrial septal defect 8.",
"acronym": "ASD8.",
"accession": "DI-03333",
"synonyms": null,
"cross_references": "MeSH; D006344.",
"definition": "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Anemia, sideroblastic, 3, pyridoxine-refractory.",
"acronym": "SIDBA3.",
"accession": "DI-04678",
"synonyms": null,
"cross_references": "MeSH; D000756.",
"definition": "A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA3 is refractory to treatment with vitamin B6, while iron chelation therapy may result in clinical improvement. SIDBA3 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Anemia, sideroblastic, 4.",
"acronym": "SIDBA4.",
"accession": "DI-04677",
"synonyms": null,
"cross_references": "MeSH; D000756.",
"definition": "A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families. ",
"keywords": null
},
{
"identifier": "Anemia, sideroblastic, 5.",
"acronym": "SIDBA5.",
"accession": "DI-06225",
"synonyms": null,
"cross_references": "MeSH; D000756.",
"definition": "A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA5 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Alazami-Yuan syndrome.",
"acronym": "ALYUS.",
"accession": "DI-04825",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive syndrome reminiscent of Cornelia de Lange syndrome and characterized by delayed psychomotor development with intellectual disability, hypotonia, microcephaly, short stature, poor speech, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Angioedema, hereditary, 5.",
"acronym": "HAE5.",
"accession": "DI-06125",
"synonyms": null,
"cross_references": "MeSH; D054179.",
"definition": "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE5 is an autosomal dominant form characterized by onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life. ",
"keywords": null
},
{
"identifier": "Anencephaly 2.",
"acronym": "ANPH2.",
"accession": "DI-06156",
"synonyms": null,
"cross_references": "MeSH; D000757.",
"definition": "A form of anencephaly, an extreme neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH2 features may also include frontonasal dysplasia with midline cleft of the upper lip and alveolar ridge, bifid nose, and clinical anophthalmia. ANPH2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma.",
"acronym": "CAPOK.",
"accession": "DI-05518",
"synonyms": null,
"cross_references": "MeSH; D010859.",
"definition": "An autosomal recessive genodermatosis characterized by hypo- and hyperpigmented macular skin lesions, progressive alopecia, palmoplantar keratoderma, dystrophic nails, teeth abnormalities and a predisposition to squamous cell carcinoma. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; KW-1063:Hypotrichosis.; "
}
]
}