{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2880","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2840","results":[{"identifier":"Hyperphosphatasia with impaired intellectual development syndrome 2.","acronym":"HPMRS2.","accession":"DI-03510","synonyms":"Glycosylphosphatidylinositol biosynthesis defect 6.; GPIBD6.; ","cross_references":"MeSH; D010760.","definition":"An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hyperphosphatasia with impaired intellectual development syndrome 3.","acronym":"HPMRS3.","accession":"DI-03720","synonyms":"Glycosylphosphatidylinositol biosynthesis defect 8.; GPIBD8.; MRT17.; MRT21.; ","cross_references":"MeSH; D010760.","definition":"An autosomal recessive disorder usually characterized by intellectual disability, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hyperphosphatasia with impaired intellectual development syndrome 4.","acronym":"HPMRS4.","accession":"DI-04049","synonyms":"Glycosylphosphatidylinositol biosynthesis defect 10.; GPIBD10.; ","cross_references":"MeSH; D010760.","definition":"An autosomal recessive neurologic disorder characterized by profound developmental delay, severe intellectual disability, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hyperphosphatasia with impaired intellectual development syndrome 6.","acronym":"HPMRS6.","accession":"DI-04648","synonyms":null,"cross_references":"MeSH; D010760.","definition":"An autosomal recessive, multisystem disorder characterized by severe developmental delay, dysmorphism, seizures, cataracts, and early death in some patients. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hyperpigmentation with or without hypopigmentation, familial progressive.","acronym":"FPHH.","accession":"DI-02576","synonyms":"Melanosis universalis hereditaria.; MUH.; ","cross_references":"MedGen; C1840392.","definition":"A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. Hyperpigmentation has variable intensity, and sometimes is associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. ","keywords":null},{"identifier":"Hyperproinsulinemia.","acronym":"HPRI.","accession":"DI-01585","synonyms":null,"cross_references":"MeSH; D003920.","definition":"An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material. ","keywords":null},{"identifier":"Hyperprolactinemia.","acronym":"HPRL.","accession":"DI-03975","synonyms":null,"cross_references":"MeSH; D006966.","definition":"A disorder characterized by increased levels of prolactin in the blood not associated with gestation or the puerperium. HPRL may result in infertility, hypogonadism, and galactorrhea. ","keywords":null},{"identifier":"Hyperprolinemia 1.","acronym":"HYRPRO1.","accession":"DI-01782","synonyms":"HPI.; Hyperprolinemia type I.; Proline oxidase deficiency.; ","cross_references":"MeSH; D000592.","definition":"An inborn error of proline metabolism resulting in elevated levels of proline in the plasma and urine. The disorder is generally benign and most affected individuals are clinically asymptomatic. Some patients, however, have neurologic manifestations, including epilepsy and intellectual disability. Association with certain forms of schizophrenia have been reported. ","keywords":null},{"identifier":"Hyperprolinemia 2.","acronym":"HYRPRO2.","accession":"DI-01783","synonyms":"1-pyrroline-5-carboxylate dehydrogenase deficiency.; HPII.; Hyperprolinemia type II.; ","cross_references":"MeSH; D000592.","definition":"An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay. ","keywords":null},{"identifier":"Hypersulfaturia.","acronym":"HYSULF.","accession":"DI-06685","synonyms":null,"cross_references":"MeSH; D008659.","definition":"An autosomal recessive inborn error of sulfate homeostasis resulting in urinary sulfate wasting and low plasma sulfate. Clinical features include costochondritis, perichondritis of the costovertebral joints, and chest pain. ","keywords":null},{"identifier":"Hypertension and brachydactyly syndrome.","acronym":"HTNB.","accession":"DI-04464","synonyms":"Bilginturan syndrome.; Brachydactyly, type E, with short stature and hypertension.; Brachydactyly type E with short stature and hypertension.; Brachydactyly with hypertension.; ","cross_references":"MeSH; D059327.","definition":"A syndrome characterized by brachydactyly type E, severe salt- independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, and altered baroreflex blood pressure regulation. It results in death from stroke before age 50 years when untreated. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. ","keywords":null},{"identifier":"Hyperthyroidism, non-autoimmune.","acronym":"HTNA.","accession":"DI-02059","synonyms":"Familial hyperthyroidism due to mutations in TSH receptor.; Familial non-immune hyperthyroidism.; Hyperthyroidism congenital non-autoimmune.; Hyperthyroidism non-autoimmune autosomal dominant.; Resistance to thyroid stimulating hormone.; Toxic thyroid hyperplasia autosomal dominant.; ","cross_references":"MeSH; D006980.","definition":"A condition characterized by abnormally high levels of serum thyroid hormones, thyroid hyperplasia, goiter and lack of anti-thyroid antibodies. Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent. ","keywords":null},{"identifier":"Hyperthyroxinemia, dystransthyretinemic.","acronym":"DTTRH.","accession":"DI-01785","synonyms":"Dystransthyretinemic euthyroidal hyperthyroxinemia.; Euthryroidal hyperthyroxinemia 2.; Hyperthyroxinemia dysprealbuminemic.; Hyperthyroxinemia dystransthyretinemic.; ","cross_references":"MeSH; D006981.","definition":"A condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities. ","keywords":null},{"identifier":"Hyperthyroxinemia, familial dysalbuminemic.","acronym":"FDAH.","accession":"DI-01565","synonyms":"Bisalbuminemia.; ","cross_references":"MeSH; D050010.","definition":"A disorder characterized by abnormally elevated levels of total serum thyroxine (T4) in euthyroid patients. It is due to abnormal serum albumin that binds T4 with enhanced affinity. ","keywords":null},{"identifier":"Hypertrichotic osteochondrodysplasia.","acronym":"HTOCD.","accession":"DI-03485","synonyms":"Cantu syndrome.; ","cross_references":"MeSH; D010009.","definition":"A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability. ","keywords":null},{"identifier":"Hypertriglyceridemia 1.","acronym":"HYTG1.","accession":"DI-01586","synonyms":"Hypertriglyceridemia, familial.; ","cross_references":"MeSH; D006953.","definition":"A common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis. Inheritance is autosomal dominant. ","keywords":null},{"identifier":"Hypertriglyceridemia 2.","acronym":"HYTG2.","accession":"DI-06131","synonyms":null,"cross_references":"MeSH; D015228.","definition":"An autosomal dominant form of hypertriglyceridemia, a disorder characterized by elevated plasma triglyceride levels. HYTG2 patients also have increased total cholesterol levels and low levels of high density lipoprotein (HDL) cholesterol. Reduced penetrance has been observed. ","keywords":null},{"identifier":"Hypertriglyceridemia, transient infantile.","acronym":"HTGTI.","accession":"DI-03387","synonyms":null,"cross_references":"MeSH; D015228.","definition":"An autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. ","keywords":null},{"identifier":"Hypertrophic osteoarthropathy, primary, autosomal dominant.","acronym":"PHOAD.","accession":"DI-06152","synonyms":null,"cross_references":"MeSH; D010004.","definition":"A form of primary hypertrophic osteoarthropathy, a disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. PHOAD patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females. ","keywords":null},{"identifier":"Hypertrophic osteoarthropathy, primary, autosomal recessive, 1.","acronym":"PHOAR1.","accession":"DI-02204","synonyms":"Pachydermoperiostosis autosomal recessive.; PDP autosomal recessive.; PHO autosomal recessive.; Touraine-Solente-Gole syndrome.; ","cross_references":"MeSH; D010004.","definition":"A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease. ","keywords":null}]}