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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2220&ordering=synonyms",
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"results": [
{
"identifier": "Hemophagocytic lymphohistiocytosis, familial, 4.",
"acronym": "FHL4.",
"accession": "DI-01575",
"synonyms": "HLH4.; HPLH4.; ",
"cross_references": "MeSH; D051359.",
"definition": "A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. ",
"keywords": null
},
{
"identifier": "Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease.",
"acronym": "FHL5.",
"accession": "DI-02796",
"synonyms": "HLH5.; HPLH5.; ",
"cross_references": "MeSH; D051359.",
"definition": "A rare, autosomal recessive disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. Some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease. ",
"keywords": null
},
{
"identifier": "Hypermanganesemia with dystonia 1.",
"acronym": "HMNDYT1.",
"accession": "DI-04212",
"synonyms": "HMDPC.; Hypermanganesemia with dystonia, polycythemia, and cirrhosis.; ",
"cross_references": "MeSH; D008659.",
"definition": "A metabolic autosomal recessive disorder characterized by dystonia, parkinsonism, extrapyramidal signs, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency.",
"acronym": "HMGCS2D.",
"accession": "DI-01751",
"synonyms": "HMG-CoA synthase deficiency.; HMGCS2 deficiency.; HMGCS deficiency.; Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency.; Mitochondrial HMG-CoA synthase deficiency.; ",
"cross_references": "MeSH; D028361.",
"definition": "A metabolic disorder characterized by severe hypoketotic hypoglycemia, encephalopathy, and hepatomegaly. ",
"keywords": null
},
{
"identifier": "Neuronopathy, hereditary motor, autosomal recessive 7.",
"acronym": "HMNR7.",
"accession": "DI-06035",
"synonyms": "HMNMYO.; Neuropathy, hereditary motor, autosomal recessive 7.; Neuropathy, hereditary motor, with myopathic features.; ",
"cross_references": "MeSH; D009468.",
"definition": "An autosomal recessive, neuromyopathic disorder that manifests in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs. Affected individuals have difficulty climbing stairs and problems standing on the heels. Most patients have foot deformities, and some may have leg muscle atrophy. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Giant axonal neuropathy 2, autosomal dominant.",
"acronym": "GAN2.",
"accession": "DI-04139",
"synonyms": "HMSN2 with neurofilament accumulations and infrequent giant axons.; ",
"cross_references": "MeSH; D015417.",
"definition": "An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Lymphoma, Hodgkin, classic.",
"acronym": "CHL.",
"accession": "DI-02721",
"synonyms": "Hodgkin disease.; ",
"cross_references": "MeSH; D006689.",
"definition": "A malignant disease characterized by progressive enlargement of the lymph nodes, spleen and general lymphoid tissue, and the presence of large, usually multinucleate, cells (Reed-Sternberg cells). Reed- Sternberg cells compose only 1-2% of the total tumor cell mass. The remainder is composed of a variety of reactive, mixed inflammatory cells consisting of lymphocytes, plasma cells, neutrophils, eosinophils and histiocytes. ",
"keywords": null
},
{
"identifier": "Periodic paralysis hypokalemic 1.",
"acronym": "HOKPP1.",
"accession": "DI-00907",
"synonyms": "HOKPP.; HYPOPP.; Westphall disease.; ",
"cross_references": "MeSH; D020514.",
"definition": "An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels. ",
"keywords": null
},
{
"identifier": "Holoprosencephaly 11.",
"acronym": "HPE11.",
"accession": "DI-03230",
"synonyms": "Holoprosencephaly-11.; ",
"cross_references": "MeSH; D016142.",
"definition": "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. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 2.",
"acronym": "HPE2.",
"accession": "DI-00566",
"synonyms": "Holoprosencephaly-2.; ",
"cross_references": "MeSH; D016142.",
"definition": "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. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 3.",
"acronym": "HPE3.",
"accession": "DI-00567",
"synonyms": "Holoprosencephaly-3.; ",
"cross_references": "MeSH; D016142.",
"definition": "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. The majority of holoprosencephaly type 3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 4.",
"acronym": "HPE4.",
"accession": "DI-00568",
"synonyms": "Holoprosencephaly-4.; ",
"cross_references": "MeSH; D016142.",
"definition": "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. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 5.",
"acronym": "HPE5.",
"accession": "DI-00569",
"synonyms": "Holoprosencephaly-5.; ",
"cross_references": "MeSH; D016142.",
"definition": "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. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 7.",
"acronym": "HPE7.",
"accession": "DI-00570",
"synonyms": "Holoprosencephaly-7.; ",
"cross_references": "MeSH; D016142.",
"definition": "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. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 9.",
"acronym": "HPE9.",
"accession": "DI-00571",
"synonyms": "Holoprosencephaly-9.; Pituitary anomalies with holoprosencephaly-like features.; ",
"cross_references": "MeSH; D016142.",
"definition": "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. Holoprosencephaly type 9 is characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Hartsfield syndrome.",
"acronym": "HRTFDS.",
"accession": "DI-03909",
"synonyms": "Holoprosencephaly, ectrodactyly and bilateral cleft lip/palate.; ",
"cross_references": "MeSH; D016142.",
"definition": "A syndrome characterized by the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound intellectual disability is also present. Multiple other congenital anomalies usually occur. ",
"keywords": "KW-0370:Holoprosencephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypomagnesemia 1.",
"acronym": "HOMG1.",
"accession": "DI-00576",
"synonyms": "HOMG.; HSH.; Hypomagnesemia with secondary hypocalcemia.; Hypomagnesemic tetany.; Intestinal hypomagnesemia 1.; Intestinal hypomagnesemia with secondary hypocalcemia.; ",
"cross_references": "MeSH; D008286.",
"definition": "A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage. ",
"keywords": "KW-0982:Primary hypomagnesemia.; "
},
{
"identifier": "Methylmalonic aciduria and homocystinuria, cblD type.",
"acronym": "MAHCD.",
"accession": "DI-00745",
"synonyms": "Homocystinuria cblD variant 1.; Methylmalonic acidemia and homocystinuria cblD type.; Methylmalonic aciduria and homocystinuria cblD-combined.; Methylmalonic aciduria and homocystinuria cblD original.; Methylmalonic aciduria cblD variant 2.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, intellectual disability, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2). ",
"keywords": null
},
{
"identifier": "Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity.",
"acronym": "MTHFRD.",
"accession": "DI-01972",
"synonyms": "Homocystinuria due to MTHFR deficiency.; Methylenetetrahydrofolate reductase deficiency.; MTHFR deficiency.; ",
"cross_references": "MeSH; D006712.",
"definition": "An autosomal recessive inborn error of folate metabolism. Clinical severity is variable, ranging from severe neurologic features to absence of symptoms. Clinical features include homocysteinuria, homocysteinemia, developmental delay, severe intellectual disability, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. ",
"keywords": null
},
{
"identifier": "Homocystinuria-megaloblastic anemia, cblE complementation type.",
"acronym": "HMAE.",
"accession": "DI-01970",
"synonyms": "Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type.; Methylcobalamin deficiency cblE type.; Vitamin B12-responsive homocystinuria cblE type.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. ",
"keywords": null
}
]
}