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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2280&ordering=-synonyms",
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"results": [
{
"identifier": "Lessel-Kreienkamp syndrome.",
"acronym": "LESKRES.",
"accession": "DI-06006",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, intellectual disability of variable degree, and speech and language delay apparent from infancy or early childhood. Behavioral disorders are observed in most patients. Additional variable features include seizures, hypotonia, gait abnormalities, visual and cardiac defects, and non-specific facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Erythropoietic protoporphyria, X-linked dominant.",
"acronym": "XLDPT.",
"accession": "DI-00485",
"synonyms": null,
"cross_references": "MeSH; D046351.",
"definition": "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is characterized biochemically by a high proportion of zinc- protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. ",
"keywords": null
},
{
"identifier": "Ciliary dyskinesia, primary, 41.",
"acronym": "CILD41.",
"accession": "DI-05575",
"synonyms": null,
"cross_references": "MeSH; D002925.",
"definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD41 inheritance is autosomal recessive. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Guttmacher syndrome.",
"acronym": "GUTTS.",
"accession": "DI-01691",
"synonyms": null,
"cross_references": "MedGen; C1867801.",
"definition": "Dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot- genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails. ",
"keywords": null
},
{
"identifier": "Episodic ataxia 8.",
"acronym": "EA8.",
"accession": "DI-06856",
"synonyms": null,
"cross_references": "MeSH; D001259.",
"definition": "A form of episodic ataxia, a neurologic disorder characterized by episodes of poor coordination and balance. EA8 affected individuals have attacks of unsteadiness, general weakness, and slurred speech. Additional variable features include twitching around the eyes, nystagmus, myokymia, and persistent intention tremor. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Episodic ataxia 9.",
"acronym": "EA9.",
"accession": "DI-05869",
"synonyms": null,
"cross_references": "MeSH; D001259.",
"definition": "An autosomal dominant neurologic disorder characterized by episodic ataxia manifesting in the first years of life, early-onset seizures, difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The duration of ataxic episodes is heterogeneous. Most patients show episodes lasting minutes to maximum several hours, but periods lasting days up to weeks have been reported. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 2.",
"acronym": "MRD2.",
"accession": "DI-03185",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Ichthyosis, spastic quadriplegia, and impaired intellectual development.",
"acronym": "ISQMR.",
"accession": "DI-03376",
"synonyms": null,
"cross_references": "MeSH; D010264.",
"definition": "A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. ",
"keywords": "KW-0977:Ichthyosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Episodic pain syndrome, familial, 1.",
"acronym": "FEPS1.",
"accession": "DI-03683",
"synonyms": null,
"cross_references": "MeSH; D010146.",
"definition": "An autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress. The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall. Affected individuals do not manifest altered pain sensitivity outside the episodes. ",
"keywords": null
},
{
"identifier": "Episodic pain syndrome, familial, 2.",
"acronym": "FEPS2.",
"accession": "DI-03973",
"synonyms": null,
"cross_references": "MeSH; D010146.",
"definition": "An autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities. ",
"keywords": null
},
{
"identifier": "Harderoporphyria.",
"acronym": "HARPO.",
"accession": "DI-05848",
"synonyms": null,
"cross_references": "MeSH; D011164.",
"definition": "An autosomal recessive form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. HARPO is a rare erythropoietic variant form characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Glycine encephalopathy 2.",
"acronym": "GCE2.",
"accession": "DI-06697",
"synonyms": null,
"cross_references": "MeSH; D020158.",
"definition": "A form of glycine encephalopathy, a metabolic disorder characterized by a high concentration of glycine in the body fluids. Affected individuals typically have severe neurological symptoms, including seizure, lethargy, and muscular hypotonia soon after birth. Most of them die within the neonatal period. Atypical cases have later disease onset and less severely affected psychomotor development. ",
"keywords": null
},
{
"identifier": "Ciliary dyskinesia, primary, 46.",
"acronym": "CILD46.",
"accession": "DI-06168",
"synonyms": null,
"cross_references": "MeSH; D002925.",
"definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD46 is an autosomal recessive form. No situs abnormalities have been observed. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Erythrocytosis, familial, 3.",
"acronym": "ECYT3.",
"accession": "DI-00481",
"synonyms": null,
"cross_references": "MeSH; D011086.",
"definition": "An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal serum erythropoietin levels. ",
"keywords": "KW-0985:Congenital erythrocytosis.; "
},
{
"identifier": "Erythrocytosis, familial, 4.",
"acronym": "ECYT4.",
"accession": "DI-00482",
"synonyms": null,
"cross_references": "MeSH; D011086.",
"definition": "An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts. ",
"keywords": "KW-0985:Congenital erythrocytosis.; "
},
{
"identifier": "Erythrocytosis, familial, 5.",
"acronym": "ECYT5.",
"accession": "DI-05215",
"synonyms": null,
"cross_references": "MeSH; D011086.",
"definition": "An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit. Some patients have increased serum erythropoietin levels. ",
"keywords": "KW-0985:Congenital erythrocytosis.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 48, without situs inversus.",
"acronym": "CILD48.",
"accession": "DI-06504",
"synonyms": null,
"cross_references": "MeSH; D002925.",
"definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD48 is an autosomal recessive form. No situs abnormalities have been observed. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "IgA nephropathy 3.",
"acronym": "IGAN3.",
"accession": "DI-04653",
"synonyms": null,
"cross_references": "MeSH; D005922.",
"definition": "A form of IgA nephropathy, a common primary glomerulonephritis characterized by glomerular sclerosis, interstitial fibrosis, and mesangial glomerular deposits of immunoglobulin A and immunoglobulin G visible on renal biopsies. IgA nephropathy is associated with renal insufficiency that can progress to end-stage renal disease. Proteinuria and hematuria are characteristic clinical presentations. ",
"keywords": null
},
{
"identifier": "Ciliary dyskinesia, primary, 49, without situs inversus.",
"acronym": "CILD49.",
"accession": "DI-06590",
"synonyms": null,
"cross_references": "MeSH; D002925.",
"definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD49 is an autosomal recessive form without situs abnormalities. Affected males also show infertility due to defective flagellar morphology and function. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia.",
"acronym": "NEDSCAC.",
"accession": "DI-06070",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and poor or absent speech. More severely affected individuals do not achieve independent ambulation, whereas others develop some speech and can walk, or show regression later in childhood. Additional features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures. Brain imaging usually shows cerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and hypomyelination. ",
"keywords": "KW-0898:Cataract.; KW-0991:Intellectual disability.; "
}
]
}