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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2780&ordering=-synonyms",
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"results": [
{
"identifier": "Intellectual developmental disorder with language impairment and with or without autistic features.",
"acronym": "MRLIAF.",
"accession": "DI-02984",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A developmental disorder characterized by mild to moderate intellectual disability, language impairment, and autistic features in some patients. Patients show global delay, delayed walking, severely delayed speech development, and behavioral abnormalities, including irritability, hyperactivity, aggression, and stereotypical rigid behaviors. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 95.",
"acronym": "MRX95.",
"accession": "DI-00740",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"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": "Neural tube defects, folate-sensitive.",
"acronym": "NTDFS.",
"accession": "DI-01623",
"synonyms": null,
"cross_references": "MedGen; C1866559.",
"definition": "The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. ",
"keywords": null
},
{
"identifier": "Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency.",
"acronym": "CMS2C.",
"accession": "DI-04398",
"synonyms": null,
"cross_references": "MeSH; D020294.",
"definition": "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. CMS2C is clinically characterized by early-onset muscle weakness with variable severity. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 92.",
"acronym": "MRX92.",
"accession": "DI-00738",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"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": "Hoxha-Aliu syndrome.",
"acronym": "HXAL.",
"accession": "DI-06816",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal recessive disorder characterized by mild intellectual disability, eyelid ptosis, and limb anomalies including brachydactyly, clinodactyly, dysplastic or absent nails, brachytelephalangy, short metacarpals, and toe syndactyly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypoparathyroidism, X-linked.",
"acronym": "HYPX.",
"accession": "DI-05492",
"synonyms": null,
"cross_references": "MeSH; D007011.",
"definition": "An X-linked form of true hypoparathyroidism characterized by neonatal or infantile onset and absence of parathyroid glands. Clinical features are hypocalcemia, hyperphosphatemia, seizures, tetany and cramps. ",
"keywords": null
},
{
"identifier": "Breast cancer, lobular.",
"acronym": "LBC.",
"accession": "DI-03803",
"synonyms": null,
"cross_references": "MeSH; D001943.",
"definition": "A type of breast cancer that begins in the milk-producing glands (lobules) of the breast. ",
"keywords": null
},
{
"identifier": "Hyperammonemia due to carbonic anhydrase VA deficiency.",
"acronym": "CA5AD.",
"accession": "DI-04105",
"synonyms": null,
"cross_references": "MeSH; D022124.",
"definition": "An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic 14.",
"acronym": "MRXS14.",
"accession": "DI-02460",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS14 patients manifest intellectual disability associated with other variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Huntington disease.",
"acronym": "HD.",
"accession": "DI-01754",
"synonyms": null,
"cross_references": "MeSH; D006816.",
"definition": "A neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Huntington disease-like 1.",
"acronym": "HDL1.",
"accession": "DI-01755",
"synonyms": null,
"cross_references": "MedGen; C1864112.",
"definition": "Autosomal dominant, early-onset neurodegenerative disorder with prominent psychiatric features. ",
"keywords": null
},
{
"identifier": "Huntington disease-like 2.",
"acronym": "HDL2.",
"accession": "DI-01756",
"synonyms": null,
"cross_references": "MedGen; C1847987.",
"definition": "Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Raymond type.",
"acronym": "MRXSR.",
"accession": "DI-02508",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Some MRXSR patients show additional features, including marfanoid habitus, epilepsy, facial dysmorphism, hypotonia, and behavioral problems. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Congenital heart defects, multiple types, 5.",
"acronym": "CHTD5.",
"accession": "DI-05221",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive. ",
"keywords": null
},
{
"identifier": "Aplasia or hypoplasia of the breasts and/or nipples 2.",
"acronym": "BNAH2.",
"accession": "DI-04216",
"synonyms": null,
"cross_references": "MeSH; D001941.",
"definition": "A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia). ",
"keywords": null
},
{
"identifier": "Hutchinson-Gilford progeria syndrome.",
"acronym": "HGPS.",
"accession": "DI-01757",
"synonyms": null,
"cross_references": "MedGen; CN070028.",
"definition": "Rare genetic disorder characterized by features reminiscent of marked premature aging. ",
"keywords": null
},
{
"identifier": "Episodic pain syndrome, familial, 3.",
"acronym": "FEPS3.",
"accession": "DI-03978",
"synonyms": null,
"cross_references": "MeSH; D010146.",
"definition": "An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked 99, syndromic, female-restricted.",
"acronym": "MRXS99F.",
"accession": "DI-04666",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning, associated with impairments in adaptive behavior and manifested during the developmental period. MRXS99F affected females manifest intellectual disability, developmental delay, facial dysmorphism, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Inheritance is X-linked dominant. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Shwachman-Diamond syndrome 1.",
"acronym": "SDS1.",
"accession": "DI-02303",
"synonyms": null,
"cross_references": "MeSH; D010188.",
"definition": "A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS1 inheritance is autosomal recessive. ",
"keywords": null
}
]
}