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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=760&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=720&ordering=synonyms",
"results": [
{
"identifier": "Parkinsonism-dystonia 2, infantile-onset.",
"acronym": "PKDYS2.",
"accession": "DI-05288",
"synonyms": "Brain dopamine-serotonin vesicular transport disease.; Brain monoamine vesicular transport disease.; ",
"cross_references": "MeSH; D020734.",
"definition": "An autosomal recessive disorder characterized by infantile onset of abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay. ",
"keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction.",
"acronym": "CAHTP.",
"accession": "DI-01345",
"synonyms": "Brain-lung-thyroid syndrome.; Choreoathetosis, hypothyroidism, and neonatal respiratory distress.; ",
"cross_references": "MeSH; D012127.",
"definition": "An autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 1.",
"acronym": "HLD1.",
"accession": "DI-00648",
"synonyms": "Brain sclerosis diffuse familial.; Pelizaeus-Merzbacher brain sclerosis.; Pelizaeus-Merzbacher disease.; PMD.; Sudanophilic leukodystrophy Paelizeus-Merzbacher type.; ",
"cross_references": "MeSH; D020371.",
"definition": "An X-linked recessive disorder of the central nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Mismatch repair cancer syndrome 1.",
"acronym": "MMRCS1.",
"accession": "DI-01980",
"synonyms": "Brain tumor-polyposis syndrome 1.; BTP1 syndrome.; BTPS1.; Childhood cancer syndrome.; CMMRDS.; Constitutional mismatch repair deficiency syndrome.; Mismatch repair deficiency.; MMR deficiency.; Turcot syndrome.; ",
"cross_references": "MeSH; D009386.",
"definition": "An autosomal recessive form of mismatch repair cancer syndrome, a childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. ",
"keywords": null
},
{
"identifier": "Hypervalinemia and hyperleucine-isoleucinemia.",
"acronym": "HVLI.",
"accession": "DI-05797",
"synonyms": "Branched-chain aminotransferase deficiency.; Hypervalinemia or hyperleucine-isoleucinemia.; ",
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive metabolic disorder characterized by highly elevated plasma concentrations of valine and leucine/isoleucine. Affected individuals suffer from headache and mild memory impairment. ",
"keywords": null
},
{
"identifier": "Dentinogenesis imperfecta, Shields type 3.",
"acronym": "DGI3.",
"accession": "DI-01478",
"synonyms": "Brandywine type dentinogenesis imperfecta.; ",
"cross_references": "MeSH; D003811.",
"definition": "A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI3 teeth typically manifest multiple periapical radiolucencies. DGI3 is not associated with osteogenesis imperfecta. ",
"keywords": null
},
{
"identifier": "Breast-ovarian cancer, familial, 1.",
"acronym": "BROVCA1.",
"accession": "DI-01559",
"synonyms": "Breast cancer familial 1.; Ovarian cancer familial 1.; ",
"cross_references": "MeSH; D010051.",
"definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ",
"keywords": null
},
{
"identifier": "Breast-ovarian cancer, familial, 2.",
"acronym": "BROVCA2.",
"accession": "DI-02603",
"synonyms": "Breast cancer familial 2.; Ovarian cancer familial 2.; ",
"cross_references": "MeSH; D010051.",
"definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ",
"keywords": null
},
{
"identifier": "Breast-ovarian cancer, familial, 3.",
"acronym": "BROVCA3.",
"accession": "DI-02774",
"synonyms": "Breast cancer familial 3.; Ovarian cancer familial 3.; ",
"cross_references": "MeSH; D010051.",
"definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ",
"keywords": null
},
{
"identifier": "Breast-ovarian cancer, familial, 4.",
"acronym": "BROVCA4.",
"accession": "DI-03288",
"synonyms": "Breast cancer familial 4.; Ovarian cancer familial 4.; ",
"cross_references": "MeSH; D010051.",
"definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ",
"keywords": null
},
{
"identifier": "Breast cancer.",
"acronym": "BC.",
"accession": "DI-02602",
"synonyms": "Breast cancer familial.; Breast cancer familial male.; Breast carcinoma.; Mammary carcinoma.; ",
"cross_references": "MeSH; D001943.",
"definition": "A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. ",
"keywords": null
},
{
"identifier": "Biliary, renal, neurologic, and skeletal syndrome.",
"acronym": "BRENS.",
"accession": "DI-06257",
"synonyms": "BRENS syndrome.; ",
"cross_references": "MeSH; D000072661.",
"definition": "An autosomal recessive ciliopathy with multisystemic manifestations including severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis, postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Immunodeficiency 60 and autoimmunity.",
"acronym": "IMD60.",
"accession": "DI-05539",
"synonyms": "BRIDA.; Immunodeficiency 60.; Immunodeficiency and autoimmunity, BACH2-related.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant primary immunologic disorder characterized by intestinal inflammation, recurrent sino-pulmonary infections, impaired lymphocyte maturation, and variably decreased immunoglobulin production. ",
"keywords": null
},
{
"identifier": "Hyperlipoproteinemia 3.",
"acronym": "HLPP3.",
"accession": "DI-01771",
"synonyms": "Broad beta disease.; Broad-betalipoproteinemia.; Deficiency or defect of apolipoprotein E.; Dysbetalipoproteinemia due to defect in apolipoprotein E.; Familial dysbetalipoproteinemia.; Familial hyperbeta- and prebetalipoproteinemia.; Familial hypercholesterolemia with hyperlipemia.; Floating-betalipoproteinemia.; Hyperlipemia with familial hypercholesterolemic xanthomatosis.; Hyperlipoproteinemia type III.; ",
"cross_references": "MeSH; D006952.",
"definition": "A disorder characterized by the accumulation of intermediate-density lipoprotein particles (IDL or broad-beta-lipoprotein) rich in cholesterol. Clinical features include xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. ",
"keywords": null
},
{
"identifier": "Rubinstein-Taybi syndrome 1.",
"acronym": "RSTS1.",
"accession": "DI-02730",
"synonyms": "Broad thumb-hallux syndrome.; RSTS.; Rubinstein syndrome.; ",
"cross_references": "MeSH; D012415.",
"definition": "A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. ",
"keywords": null
},
{
"identifier": "Brody disease.",
"acronym": "BROD.",
"accession": "DI-00200",
"synonyms": "Brody myopathy.; ",
"cross_references": "MeSH; D009120.",
"definition": "An autosomal recessive muscular disorder characterized by exercise- induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur. ",
"keywords": null
},
{
"identifier": "Asthma.",
"acronym": "ASTHMA.",
"accession": "DI-02482",
"synonyms": "Bronchial asthma.; ",
"cross_references": "MeSH; D001249.",
"definition": "The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. ",
"keywords": "KW-1058:Asthma.; "
},
{
"identifier": "Multiple familial trichoepithelioma 1.",
"acronym": "MFT1.",
"accession": "DI-02007",
"synonyms": "Brooke-Fordyce trichoepitheliomas.; EAC.; Epithelioma adenoides cysticum of Brooke.; Hereditary multiple benign cystic epithelioma.; ",
"cross_references": "MedGen; C1275122.",
"definition": "Autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Turner type.",
"acronym": "MRXST.",
"accession": "DI-00720",
"synonyms": "Brooks-Wisniewski-Brown syndrome.; JMS.; Juberg-Marsidi syndrome.; MRXSBWB.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked neurodevelopmental disorder with highly variable clinical manifestations. Common features consist of moderate to profound intellectual disability, delayed or absent speech, short stature with small hands and feet, and non-specific but recurrent dysmorphic facial features such as macrocephaly, microcephaly, a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures and a short philtrum. Patients may manifest other features, such as hypotonia, seizures and delayed bone age. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Myoectodermal gonadal dysgenesis syndrome.",
"acronym": "MEGD.",
"accession": "DI-05558",
"synonyms": "Brosnan-Kennerknecht-Guran-Koc syndrome BKGK.; GDRM.; Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.; ",
"cross_references": "MeSH; D058499.",
"definition": "An autosomal recessive disorder characterized by 46,XY complete gonadal dysgenesis and extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay. ",
"keywords": "KW-0182:Cone-rod dystrophy.; KW-0209:Deafness.; "
}
]
}