HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=280",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=240",
"results": [
{
"identifier": "Amyotrophic lateral sclerosis 5, juvenile.",
"acronym": "ALS5.",
"accession": "DI-04565",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS5 is an autosomal recessive, juvenile form characterized by onset of upper and lower motor neuron signs before age 25. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia.",
"acronym": "ALS6.",
"accession": "DI-00111",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 8.",
"acronym": "ALS8.",
"accession": "DI-00112",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 9.",
"acronym": "ALS9.",
"accession": "DI-00113",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1.",
"acronym": "ALS-PDC1.",
"accession": "DI-02695",
"synonyms": "ALS/PDC of Guam.; Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam.; Guam disease.; ",
"cross_references": "MeSH; D020734.",
"definition": "A neurodegenerative disorder characterized by chronic, progressive and uniformly fatal amyotrophic lateral sclerosis and parkinsonism- dementia. Both diseases are known to occur in the same kindred, the same sibship and even the same individual. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Analbuminemia.",
"acronym": "ANALBA.",
"accession": "DI-04235",
"synonyms": null,
"cross_references": "MeSH; D034141.",
"definition": "A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. ",
"keywords": null
},
{
"identifier": "Anauxetic dysplasia 2.",
"acronym": "ANXD2.",
"accession": "DI-04972",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Anauxetic dysplasia 3.",
"acronym": "ANXD3.",
"accession": "DI-05799",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal dysplasia characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Androgen insensitivity, partial.",
"acronym": "PAIS.",
"accession": "DI-00117",
"synonyms": "Androgen insensitivity partial with or without breast cancer.; Familial incomplete male pseudohermaphroditism, type 1.; Reifenstein syndrome.; ",
"cross_references": "MeSH; D013734.",
"definition": "A disorder that is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations. ",
"keywords": "KW-0657:Pseudohermaphroditism.; "
},
{
"identifier": "Androgen insensitivity syndrome.",
"acronym": "AIS.",
"accession": "DI-00116",
"synonyms": "Androgen receptor deficiency.; Androgen resistance syndrome.; AR deficiency.; CAIS.; Complete androgen insensitivity syndrome.; DHTR deficiency.; Dihydrotestosterone receptor deficiency.; Testicular feminization syndrome.; TFM.; ",
"cross_references": "MeSH; D013734.",
"definition": "An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype. ",
"keywords": "KW-0657:Pseudohermaphroditism.; "
},
{
"identifier": "Anemia, congenital dyserythropoietic, 1A.",
"acronym": "CDAN1A.",
"accession": "DI-01400",
"synonyms": "CDA I.; CDA Ia.; Congenital dyserythropoietic anemia type I.; Congenital dyserythropoietic anemia type Ia.; ",
"cross_references": "MeSH; D000742.",
"definition": "An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts. ",
"keywords": "KW-1055:Congenital dyserythropoietic anemia.; "
},
{
"identifier": "Anemia, congenital dyserythropoietic, 1B.",
"acronym": "CDAN1B.",
"accession": "DI-04032",
"synonyms": "CDA Ib.; Congenital dyserythropoietic anemia type Ib.; ",
"cross_references": "MeSH; D000742.",
"definition": "An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts. ",
"keywords": "KW-1055:Congenital dyserythropoietic anemia.; "
},
{
"identifier": "Anemia, congenital dyserythropoietic, 2.",
"acronym": "CDAN2.",
"accession": "DI-02476",
"synonyms": "CDA II.; Congenital dyserythropoietic anemia type II.; Dyserythropoietic anemia HEMPAS type.; HEMPAS.; Hereditary erythroblastic multinuclearity with positive acidified-serum test.; ",
"cross_references": "MeSH; D000742.",
"definition": "An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins. ",
"keywords": "KW-1055:Congenital dyserythropoietic anemia.; "
},
{
"identifier": "Anemia, congenital dyserythropoietic, 3A.",
"acronym": "CDAN3A.",
"accession": "DI-06363",
"synonyms": "Anemia, congenital dyserythropoietic, type III.; Anemia, congenital dyserythropoietic, type IIIA.; Anemia with multinucleated erythroblasts erythroreticulosis, hereditary benign.; CDA, type IIIA.; CDAN3.; Dyserythropoietic anemia, congenital, type IIIA.; ",
"cross_references": "MeSH; D000742.",
"definition": "An autosomal dominant blood disorder characterized by ineffective erythropoiesis, hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow. ",
"keywords": "KW-1055:Congenital dyserythropoietic anemia.; "
},
{
"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": "Anemia, congenital dyserythropoietic, 4.",
"acronym": "CDAN4.",
"accession": "DI-02966",
"synonyms": "CDA IV.; Congenital dyserythropoietic anemia type IV.; ",
"cross_references": "MeSH; D000742.",
"definition": "A blood disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDA4 also have increased levels of fetal hemoglobin. ",
"keywords": "KW-1055:Congenital dyserythropoietic anemia.; "
},
{
"identifier": "Anemia, hypochromic microcytic, with iron overload 1.",
"acronym": "AHMIO1.",
"accession": "DI-01787",
"synonyms": "Hypochromic microcytic anemia.; ",
"cross_references": "MeSH; D000747.",
"definition": "A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis. ",
"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": "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": "Anemia, sideroblastic, 1.",
"acronym": "SIDBA1.",
"accession": "DI-00120",
"synonyms": "Anemia, sideroblastic, X-linked.; ANH1.; Hereditary iron-loading anemia.; Hereditary sideroblastic anemia.; Hypochromic anemia.; XLSA.; ",
"cross_references": "MeSH; D000756.",
"definition": "A form of sideroblastic anemia that shows a variable hematologic response to pharmacologic doses of pyridoxine. 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. ",
"keywords": null
}
]
}