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"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5460&ordering=synonyms",
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{
"identifier": "Basal ganglia calcification, idiopathic, 6.",
"acronym": "IBGC6.",
"accession": "DI-04453",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Basal ganglia calcification, idiopathic, 5.",
"acronym": "IBGC5.",
"accession": "DI-03923",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Hirschsprung disease 3.",
"acronym": "HSCR3.",
"accession": "DI-01745",
"synonyms": null,
"cross_references": "MeSH; D006627.",
"definition": "A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ",
"keywords": "KW-0367:Hirschsprung disease.; "
},
{
"identifier": "Hirschsprung disease 4.",
"acronym": "HSCR4.",
"accession": "DI-02982",
"synonyms": null,
"cross_references": "MeSH; D006627.",
"definition": "A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ",
"keywords": "KW-0367:Hirschsprung disease.; "
},
{
"identifier": "Hirschsprung disease, cardiac defects, and autonomic dysfunction.",
"acronym": "HCAD.",
"accession": "DI-01748",
"synonyms": null,
"cross_references": "MeSH; D006627.",
"definition": "A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction. ",
"keywords": "KW-0367:Hirschsprung disease.; "
},
{
"identifier": "Histidinemia.",
"acronym": "HISTID.",
"accession": "DI-01750",
"synonyms": null,
"cross_references": "MedGen; C0220992.",
"definition": "Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. ",
"keywords": null
},
{
"identifier": "Basal ganglia calcification, idiopathic, 4.",
"acronym": "IBGC4.",
"accession": "DI-03665",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"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.; "
},
{
"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": "Basal cell carcinoma 7.",
"acronym": "BCC7.",
"accession": "DI-03503",
"synonyms": null,
"cross_references": "MeSH; D002280.",
"definition": "A common malignant skin neoplasm that typically appears on hair- bearing skin, most commonly on sun-exposed areas. It is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. ",
"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": "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": "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": "Birk-Barel syndrome.",
"acronym": "BIBARS.",
"accession": "DI-02513",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A syndrome characterized by intellectual disability, hypotonia, hyperactivity, and facial dysmorphism. BIBARS transmission pattern is consistent with autosomal dominant inheritance with paternal imprinting. ",
"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": "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": "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
}
]
}