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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4800&ordering=synonyms",
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{
"identifier": "Breast-ovarian cancer, familial, 5.",
"acronym": "BROVCA5.",
"accession": "DI-06717",
"synonyms": null,
"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": "Aplastic anemia.",
"acronym": "AA.",
"accession": "DI-02842",
"synonyms": null,
"cross_references": "MeSH; D000741.",
"definition": "A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. ",
"keywords": null
},
{
"identifier": "Hydatidiform mole, recurrent, 4.",
"acronym": "HYDM4.",
"accession": "DI-05568",
"synonyms": null,
"cross_references": "MeSH; D006828.",
"definition": "A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. ",
"keywords": null
},
{
"identifier": "Hydatidiform mole, recurrent, 3.",
"acronym": "HYDM3.",
"accession": "DI-05567",
"synonyms": null,
"cross_references": "MeSH; D006828.",
"definition": "A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. ",
"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": "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": "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": "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.",
"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": "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": "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": "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": "Holt-Oram syndrome.",
"acronym": "HOS.",
"accession": "DI-01752",
"synonyms": null,
"cross_references": "MedGen; C0265264.",
"definition": "Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. ",
"keywords": null
},
{
"identifier": "Holoprosencephaly 14.",
"acronym": "HPE14.",
"accession": "DI-06434",
"synonyms": null,
"cross_references": "MeSH; D016142.",
"definition": "An autosomal recessive form of holoprosencephaly, 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. In its most severe form (alobar holoprosencephaly), the forebrain consists of a single ventricle, and midbrain structures may be malformed as well. In the most extreme cases, anophthalmia or cyclopia is evident along with a congenital absence of the mature nose. In milder forms (semilobar or lobar holoprosencephaly), rudimentary midline structures are present. The less severe form features facial dysmorphism characterized by ocular hypertelorism, defects of the upper lip and/or nose, and absence of the olfactory nerves or corpus callosum. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Aplasia cutis-enamel dysplasia.",
"acronym": "ACED.",
"accession": "DI-06886",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by congenital absence of a portion of skin of the scalp with or without skull defects, enamel hypoplasia, and neurodevelopmental delay with autism spectrum disorder. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Alfadhel syndrome.",
"acronym": "AFDL.",
"accession": "DI-06815",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay and regression, intellectual disability, hypotonia, delayed motor development, stereotypy, behavioral abnormalities, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Holoprosencephaly 13, X-linked.",
"acronym": "HPE13.",
"accession": "DI-05801",
"synonyms": null,
"cross_references": "MeSH; D016142.",
"definition": "An X-linked form of holoprosencephaly, 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. HPE13 features range from full alobar holoprosencephaly with cyclopia to semilobar holoprosencephaly or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 12 with or without pancreatic agenesis.",
"acronym": "HPE12.",
"accession": "DI-05615",
"synonyms": null,
"cross_references": "MeSH; D016142.",
"definition": "An autosomal dominant form of holoprosencephaly, 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. HPE12 clinical features include abnormal forebrain development, dysmorphic features, global developmental delay, learning difficulties, and congenital absence of the pancreas in most patients, resulting in early-onset insulin-dependent diabetes mellitus. Other features may include hearing loss and absence of the gallbladder. ",
"keywords": "KW-0370:Holoprosencephaly.; "
}
]
}