{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2780&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2740&ordering=identifier","results":[{"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":"Huppke-Brendel syndrome.","acronym":"HPBDS.","accession":"DI-03388","synonyms":"Acetyl-CoA transporter deficiency.; CCHLND.; Congenital cataracts, hearing loss, and neurodegeneration.; ","cross_references":"MeSH; D000015.","definition":"An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination. ","keywords":"KW-0209:Deafness.; KW-0523:Neurodegeneration.; KW-0898:Cataract.; "},{"identifier":"Huriez syndrome.","acronym":"HRZ.","accession":"DI-05520","synonyms":"Keratoderma with scleroatrophy of the extremities.; Scleroatrophic and keratotic dermatosis of limbs.; Sclerotylosis.; ","cross_references":"MeSH; D012878.","definition":"An autosomal dominant syndrome characterized by atrophic fibrosis of the skin of the limbs, nail hypoplasia, and palmoplantar keratoderma. Malignant degeneration of affected skin resulting in aggressive squamous cell carcinoma and early metastasis formation is a distinctive feature of the syndrome. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Hurthle cell thyroid carcinoma.","acronym":"HCTC.","accession":"DI-02876","synonyms":"Hurthle cell carcinoma.; Hurthle cell thyroid neoplasia.; ","cross_references":"MeSH; D013964.","definition":"A rare type of thyroid cancer accounting for only about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type. ","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":"Hyaline fibromatosis syndrome.","acronym":"HFS.","accession":"DI-01850","synonyms":"Infantile systemic hyalinosis.; ISH.; JHF.; Juvenile hyaline fibromatosis.; Systemic hyalinosis.; ","cross_references":"MeSH; D057770.","definition":"An autosomal recessive syndrome characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Disease severity is variable. Some individuals manifest symptoms in infancy and have additional visceral or systemic involvement. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to early death. Surviving children may suffer from severely reduced mobility due to joint contractures. Other patients have later onset of a milder disorder affecting only the face and digits. ","keywords":null},{"identifier":"Hydatidiform mole, recurrent, 1.","acronym":"HYDM1.","accession":"DI-01758","synonyms":"CHM.; Complete hydatidiform mole.; Gestational trophoblastic disease.; Hydatidiform mole.; HYDM.; ","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, 2.","acronym":"HYDM2.","accession":"DI-03290","synonyms":"Hydatidiform mole complete.; ","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":"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":"Hydrocephalus, congenital, 1.","acronym":"HYC1.","accession":"DI-03639","synonyms":"Hydrocephalus, non-syndromic, autosomal recessive 1.; Hydrocephaly.; Ventriculomegaly.; ","cross_references":"MeSH; D006849.","definition":"A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. Affected individuals may have neurologic impairment. HYC1 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Hydrocephalus, congenital, 2, with or without brain or eye anomalies.","acronym":"HYC2.","accession":"DI-03725","synonyms":"Hydrocephalus, non-syndromic, autosomal recessive 2.; ","cross_references":"MeSH; D006849.","definition":"A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC2 affected individuals have variable neurologic impairment. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and non-specific dysmorphic features, may be observed. HYC2 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Hydrocephalus, congenital, 3, with brain anomalies.","acronym":"HYC3.","accession":"DI-05285","synonyms":"Hydrocephalus, non-syndromic, autosomal recessive 3.; ","cross_references":"MeSH; D006849.","definition":"A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC3 features include enlarged ventricles, hypoplastic or absent cerebellum, holoprosencephaly and Dandy-Walker malformation. Most patients die in utero or shortly after birth. HYC3 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Hydrocephalus, congenital, 4.","acronym":"HYC4.","accession":"DI-05706","synonyms":"HYDCC1.; Hydrocephalus, congenital communicating, 1.; ","cross_references":"MeSH; D006849.","definition":"An autosomal dominant form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC4 occurs in the absence of obstruction to cerebrospinal fluid flow between the ventricles (communicating hydrocephalus). Affected individuals have neurodevelopmental delay and epilepsy. ","keywords":null},{"identifier":"Hydrocephalus, congenital, 5.","acronym":"HYC5.","accession":"DI-06606","synonyms":null,"cross_references":"MeSH; D006849.","definition":"A form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC5 is an autosomal dominant form with incomplete penetrance and variable expressivity, associated with aqueductal stenosis apparent from birth. Some patients may have neurodevelopmental delay, seizures, or structural brain abnormalities. ","keywords":null},{"identifier":"Hydrocephalus, congenital, X-linked.","acronym":"HYCX.","accession":"DI-01759","synonyms":"HSAS.; Hydrocephalus due to stenosis of the aqueduct of Sylvius.; ","cross_references":"MeSH; D006849.","definition":"An X-linked recessive form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYCX is the most common inherited form and occurs in approximately 1/30000 male births. The primary diagnostic criteria of intellectual disability and enlarged cerebral ventricles are often accompanied by spastic paraparesis and adducted thumbs and, occasionally, visual defects or seizures. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference. Stenosis of the aqueduct of Sylvius is frequently associated with the disorder. ","keywords":null},{"identifier":"Hydrocephalus, normal pressure, 1.","acronym":"HYDNP1.","accession":"DI-05745","synonyms":null,"cross_references":"MeSH; D006850.","definition":"An autosomal dominant neurologic disorder characterized by a slowly progressive gait disorder, urinary incontinence, progressive intellectual decline, and ventricular enlargement on brain imaging. Cerebrospinal fluid pressure tends to be in the high normal range. ","keywords":null},{"identifier":"Hydrolethalus syndrome 1.","acronym":"HLS1.","accession":"DI-01760","synonyms":null,"cross_references":"MeSH; D006849.","definition":"A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery. ","keywords":"KW-1186:Ciliopathy.; "}]}