Human Disease List
GET /api/human_diseases/?format=api&offset=3760&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3780&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3740&ordering=-identifier", "results": [ { "identifier": "Hypothyroidism, congenital, non-goitrous, 8.", "acronym": "CHNG8.", "accession": "DI-05650", "synonyms": null, "cross_references": "MeSH; D003409.", "definition": "A form of central hypothyroidism, a disorder characterized by sub- optimal thyroid hormone secretion, due to insufficient stimulation by the thyroid stimulating hormone of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG8 is a congenital, X-linked, relatively mild form which may be accompanied by hearing loss in some patients. ", "keywords": "KW-0984:Congenital hypothyroidism.; " }, { "identifier": "Hypothyroidism, congenital, non-goitrous, 7.", "acronym": "CHNG7.", "accession": "DI-05659", "synonyms": "Thyrotropin-releasing hormone resistance, generalized.; ", "cross_references": "MeSH; D003409.", "definition": "A form of central hypothyroidism, a disorder characterized by sub- optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG7 is a congenital, autosomal recessive form characterized by normal-to-low T4 and normal-to-high thyrotropin levels, and reduced or absent pituitary responsiveness to thyrotropin- releasing hormone. Patients may exhibit short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue. ", "keywords": "KW-0984:Congenital hypothyroidism.; " }, { "identifier": "Hypothyroidism, congenital, non-goitrous, 6.", "acronym": "CHNG6.", "accession": "DI-03343", "synonyms": null, "cross_references": "MeSH; D003409.", "definition": "A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. There is differential sensitivity to thyroid hormone action, with retention of hormone responsiveness in the hypothalamic pituitary axis and liver but skeletal, gastrointestinal, and myocardial resistance. ", "keywords": "KW-0984:Congenital hypothyroidism.; " }, { "identifier": "Hypothyroidism, congenital, non-goitrous, 5.", "acronym": "CHNG5.", "accession": "DI-01404", "synonyms": null, "cross_references": "MeSH; D003409.", "definition": "A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. ", "keywords": "KW-0984:Congenital hypothyroidism.; " }, { "identifier": "Hypothyroidism, congenital, non-goitrous, 4.", "acronym": "CHNG4.", "accession": "DI-06483", "synonyms": "Pituitary cretinism.; Thyroid-stimulating hormone deficiency.; Thyrotropin deficiency, isolated.; TSH deficiency.; ", "cross_references": "MeSH; D003409.", "definition": "A form of central hypothyroidism, a disorder characterized by insufficient stimulation by thyroid stimulating hormone of an otherwise normal thyroid gland. CHNG4 is an autosomal recessive form characterized by isolated thyrotropin deficiency that, if untreated, results in severe growth retardation and intellectual disability. ", "keywords": "KW-0984:Congenital hypothyroidism.; " }, { "identifier": "Hypothyroidism, congenital, non-goitrous, 2.", "acronym": "CHNG2.", "accession": "DI-00363", "synonyms": "Athyreotic hypothyroidism.; Congenital hypothyroidism due to thyroid dysgenesis.; RTSH.; Thyroid dysgenesis.; Thyroid-stimulating hormone resistance.; Thyrotropin resistance.; ", "cross_references": "MeSH; D050033.", "definition": "A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue. ", "keywords": "KW-0984:Congenital hypothyroidism.; " }, { "identifier": "Hypothyroidism, congenital, non-goitrous, 1.", "acronym": "CHNG1.", "accession": "DI-00362", "synonyms": "Congenital hypothyroidism due to TSH resistance.; Hypothyroidism due to unresponsiveness to thyrotropin.; Non-autoimmune hypothyroidism.; RTSH.; Thyroid-stimulating hormone resistance.; Thyrotropin resistance.; TSH resistance.; ", "cross_references": "MeSH; D003409.", "definition": "A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. ", "keywords": "KW-0984:Congenital hypothyroidism.; " }, { "identifier": "Hypothyroidism, central, and testicular enlargement.", "acronym": "CHTE.", "accession": "DI-03629", "synonyms": null, "cross_references": "MeSH; D003409.", "definition": "A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood. ", "keywords": "KW-0984:Congenital hypothyroidism.; " }, { "identifier": "Hypotaurinemic retinal degeneration and cardiomyopathy.", "acronym": "HTRDC.", "accession": "DI-06123", "synonyms": null, "cross_references": "MeSH; D012162.", "definition": "An autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy. ", "keywords": "KW-0122:Cardiomyopathy.; " }, { "identifier": "Hypospadias 2, X-linked.", "acronym": "HYSP2.", "accession": "DI-02448", "synonyms": null, "cross_references": "MeSH; D007021.", "definition": "A common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome. ", "keywords": null }, { "identifier": "Hypospadias 1, X-linked.", "acronym": "HYSP1.", "accession": "DI-03834", "synonyms": null, "cross_references": "MeSH; D007021.", "definition": "A common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome. ", "keywords": null }, { "identifier": "Hypoplastic left heart syndrome 2.", "acronym": "HLHS2.", "accession": "DI-03342", "synonyms": null, "cross_references": "MeSH; D018636.", "definition": "A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. ", "keywords": null }, { "identifier": "Hypoplastic left heart syndrome 1.", "acronym": "HLHS1.", "accession": "DI-01799", "synonyms": null, "cross_references": "MeSH; D018636.", "definition": "A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. ", "keywords": null }, { "identifier": "Hypoplastic femurs and pelvis.", "acronym": "HYPOFP.", "accession": "DI-06232", "synonyms": null, "cross_references": "MeSH; D001848.", "definition": "An autosomal dominant disorder characterized by isolated bilateral hypoplasia of the femoral and pelvic bones. ", "keywords": null }, { "identifier": "Hypoplasia or aplasia of tibia with polydactyly.", "acronym": "THYP.", "accession": "DI-04241", "synonyms": "Hypoplastic or aplastic tibia with polydactyly.; Tibia, hypoplasia or aplasia of, with polydactyly.; Tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia.; Werner mesomelic syndrome.; WMS.; ", "cross_references": "MeSH; D017689.", "definition": "An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly. ", "keywords": null }, { "identifier": "Hypopigmentation, organomegaly, and delayed myelination and development.", "acronym": "HOD.", "accession": "DI-05637", "synonyms": null, "cross_references": "MeSH; D000015.", "definition": "An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles. ", "keywords": null }, { "identifier": "Hypophosphatemic rickets, X-linked recessive.", "acronym": "XLHRR.", "accession": "DI-00574", "synonyms": null, "cross_references": "MeSH; D053098.", "definition": "A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLHRR patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only. ", "keywords": null }, { "identifier": "Hypophosphatemic rickets, X-linked dominant.", "acronym": "XLHRD.", "accession": "DI-02447", "synonyms": "HPDR.; HYP.; Hypophosphatemia X-linked.; Hypophosphatemic vitamin D-resistant rickets.; Vitamin D-resistant rickets X-linked.; XLH.; ", "cross_references": "MeSH; D053098.", "definition": "A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000. ", "keywords": null }, { "identifier": "Hypophosphatemic rickets, autosomal recessive, 2.", "acronym": "ARHR2.", "accession": "DI-02785", "synonyms": "Hypophosphatemia autosomal recessive.; ", "cross_references": "MeSH; D012279.", "definition": "A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities. ", "keywords": null }, { "identifier": "Hypophosphatemic rickets, autosomal recessive, 1.", "acronym": "ARHR1.", "accession": "DI-01243", "synonyms": "ARHP.; Hypophosphatemia autosomal recessive.; ", "cross_references": "MeSH; D012279.", "definition": "A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities. ", "keywords": null } ] }