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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2540&ordering=-synonyms",
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"results": [
{
"identifier": "Glaucoma 1, open angle, H.",
"acronym": "GLC1H.",
"accession": "DI-06858",
"synonyms": null,
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. GLC1H is an autosomal dominant form manifesting at age between 3 and 40 years, in most patients. Some affected individuals present with glaucoma after age 35 or 40 years. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 45.",
"acronym": "COXPD45.",
"accession": "DI-05877",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder with onset in utero and characterized by poor overall growth, failure to thrive, global developmental delay, poor or absent speech, seizures, hypotonia, loss of walking, acute progressive neurologic deterioration, brain lesions, and facial dysmorphism. Laboratory studies show increased serum lactate and decreased mitochondrial respiratory chain enzyme activity in patient tissues. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 46.",
"acronym": "COXPD46.",
"accession": "DI-05878",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder characterized by childhood-onset mitochondrial respiratory chain complex deficiencies, particularly complexes I and IV, and hepatic disease. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Bleeding disorder, platelet-type, 22.",
"acronym": "BDPLT22.",
"accession": "DI-05589",
"synonyms": null,
"cross_references": "MeSH; D006470.",
"definition": "An autosomal recessive disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after minor injuries, and menorrhagia. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 47.",
"acronym": "COXPD47.",
"accession": "DI-05882",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, multisystemic, mitochondrial disorder characterized by intrauterine growth retardation, swallowing difficulties with failure to thrive, hypoglycemia, dehydration, and hepatomegaly. Additional features include global developmental delay with impaired intellectual development and absent speech, microcephaly, facial dysmorphism, cataract, sensorineural deafness, skeletal features, and cryptorchidism. Laboratory studies show metabolic acidosis, increased serum lactate, and variably impaired activity of mitochondrial respiratory complexes I, III, IV, and V in different tissues. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 9.",
"acronym": "ARCI9.",
"accession": "DI-03828",
"synonyms": null,
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Glaucoma 3, primary congenital, E.",
"acronym": "GLC3E.",
"accession": "DI-04901",
"synonyms": null,
"cross_references": "MeSH; D005901.",
"definition": "An autosomal dominant form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 48.",
"acronym": "COXPD48.",
"accession": "DI-05913",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, mitochondrial encephalomyopathy characterized by global developmental delay, microcephaly, failure to thrive, hypotonia, muscle weakness, external ophthalmoplegia, and seizures. Laboratory studies show metabolic acidosis, increased serum lactate, and combined oxidative phosphorylation deficiency in skeletal muscle. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 49.",
"acronym": "COXPD49.",
"accession": "DI-05914",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, mitochondrial myopathy characterized by progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated serum creatine kinase, and deficiencies of multiple respiratory chain enzymes. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Menke-Hennekam syndrome 2.",
"acronym": "MKHK2.",
"accession": "DI-05488",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 5.",
"acronym": "COXPD5.",
"accession": "DI-01368",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Glioma 1.",
"acronym": "GLM1.",
"accession": "DI-01665",
"synonyms": null,
"cross_references": "MeSH; D005910.",
"definition": "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ",
"keywords": null
},
{
"identifier": "Glioma 2.",
"acronym": "GLM2.",
"accession": "DI-02567",
"synonyms": null,
"cross_references": "MeSH; D005910.",
"definition": "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ",
"keywords": null
},
{
"identifier": "Glioma 3.",
"acronym": "GLM3.",
"accession": "DI-02629",
"synonyms": null,
"cross_references": "MeSH; D005910.",
"definition": "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ",
"keywords": null
},
{
"identifier": "Glioma 7.",
"acronym": "GLM7.",
"accession": "DI-06531",
"synonyms": null,
"cross_references": "MeSH; D005910.",
"definition": "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ",
"keywords": null
},
{
"identifier": "Global developmental delay with or without impaired intellectual development.",
"acronym": "GDDI.",
"accession": "DI-05485",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay associated with mild-to-moderate intellectual disability, hypotonia and short stature in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Global developmental delay with speech and behavioral abnormalities.",
"acronym": "GDSBA.",
"accession": "DI-06063",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder manifesting in infancy or early childhood. It is characterized by mildly delayed fine and motor skills, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and attention deficit-hyperactivity disorder. Additional non-specific features include facial dysmorphism, myopia or strabismus, and skeletal defects. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.",
"acronym": "GDACCF.",
"accession": "DI-04903",
"synonyms": null,
"cross_references": "MeSH; D002658.",
"definition": "An autosomal dominant syndrome characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and intellectual disability, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Bleeding disorder, vascular-type.",
"acronym": "BDVAS.",
"accession": "DI-06847",
"synonyms": null,
"cross_references": "MeSH; D006474.",
"definition": "An autosomal dominant disorder characterized by increased bleeding tendency, without platelet dysfunction. Affected individuals experience spontaneous episodic bleeding, usually beginning in childhood. Clinical manifestations include epistaxis, oral cavity bleeding, menorrhagia, and excessive bleeding during surgery or childbirth. ",
"keywords": null
},
{
"identifier": "Primordial dwarfism-immunodeficiency-lipodystrophy syndrome.",
"acronym": "PDIL.",
"accession": "DI-06484",
"synonyms": null,
"cross_references": "MeSH; D008060.",
"definition": "An autosomal recessive syndrome characterized by growth failure with in utero growth retardation and severe postnatal growth restriction, severe microcephaly, absence of subcutaneous fat, and significant haematological and immune dysfunction. Patients have hypo- or agammaglobulinemia, lymphopenia, anemia, and thrombocytopenia. Most affected individuals die in early childhood from either respiratory or gastrointestinal infections. ",
"keywords": "KW-0242:Dwarfism.; "
}
]
}