{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5340&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5300&ordering=synonyms","results":[{"identifier":"Genitopatellar syndrome.","acronym":"GTPTS.","accession":"DI-03437","synonyms":null,"cross_references":"MeSH; D000015.","definition":"A rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. ","keywords":null},{"identifier":"Genitourinary and/or brain malformation syndrome.","acronym":"GUBS.","accession":"DI-05791","synonyms":null,"cross_references":"MeSH; D014564.","definition":"An autosomal dominant syndrome characterized by multiple congenital anomalies including urogenital malformations and brain abnormalities ranging from agenesis of the corpus callosum to anencephaly. ","keywords":null},{"identifier":"Brachydactyly-syndactyly syndrome.","acronym":"BDSD.","accession":"DI-01291","synonyms":null,"cross_references":"MeSH; D059327.","definition":"A disease characterized by generalized shortening of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1. ","keywords":null},{"identifier":"Ghosal hematodiaphyseal dysplasia.","acronym":"GHDD.","accession":"DI-01657","synonyms":null,"cross_references":"MedGen; C1856465.","definition":"Rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all. ","keywords":null},{"identifier":"Brachydactyly E2.","acronym":"BDE2.","accession":"DI-02711","synonyms":null,"cross_references":"MeSH; D059327.","definition":"A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges. ","keywords":null},{"identifier":"Brachydactyly B2.","acronym":"BDB2.","accession":"DI-02844","synonyms":null,"cross_references":"MeSH; D059327.","definition":"A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. ","keywords":null},{"identifier":"Cardiomyopathy, dilated, 2A.","acronym":"CMD2A.","accession":"DI-00229","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Glaucoma 1, open angle, H.","acronym":"GLC1H.","accession":"DI-06858","synonyms":null,"cross_references":"MeSH; D005902.","definition":"A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. GLC1H is an autosomal dominant form manifesting at age between 3 and 40 years, in most patients. Some affected individuals present with glaucoma after age 35 or 40 years. ","keywords":"KW-0955:Glaucoma.; "},{"identifier":"Glaucoma 3, primary congenital, E.","acronym":"GLC3E.","accession":"DI-04901","synonyms":null,"cross_references":"MeSH; D005901.","definition":"An autosomal dominant form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. ","keywords":"KW-0955:Glaucoma.; "},{"identifier":"Glioma 1.","acronym":"GLM1.","accession":"DI-01665","synonyms":null,"cross_references":"MeSH; D005910.","definition":"Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ","keywords":null},{"identifier":"Glioma 2.","acronym":"GLM2.","accession":"DI-02567","synonyms":null,"cross_references":"MeSH; D005910.","definition":"Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ","keywords":null},{"identifier":"Glioma 3.","acronym":"GLM3.","accession":"DI-02629","synonyms":null,"cross_references":"MeSH; D005910.","definition":"Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ","keywords":null},{"identifier":"Glioma 7.","acronym":"GLM7.","accession":"DI-06531","synonyms":null,"cross_references":"MeSH; D005910.","definition":"Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ","keywords":null},{"identifier":"Global developmental delay with or without impaired intellectual development.","acronym":"GDDI.","accession":"DI-05485","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by global developmental delay associated with mild-to-moderate intellectual disability, hypotonia and short stature in some patients. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Global developmental delay with speech and behavioral abnormalities.","acronym":"GDSBA.","accession":"DI-06063","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder manifesting in infancy or early childhood. It is characterized by mildly delayed fine and motor skills, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and attention deficit-hyperactivity disorder. Additional non-specific features include facial dysmorphism, myopia or strabismus, and skeletal defects. ","keywords":"KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.","acronym":"GDACCF.","accession":"DI-04903","synonyms":null,"cross_references":"MeSH; D002658.","definition":"An autosomal dominant syndrome characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and intellectual disability, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Glucocorticoid deficiency 5.","acronym":"GCCD5.","accession":"DI-05165","synonyms":null,"cross_references":"MeSH; D000309.","definition":"A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. ","keywords":null},{"identifier":"Bosley-Salih-Alorainy syndrome.","acronym":"BSAS.","accession":"DI-01290","synonyms":null,"cross_references":"MeSH; D009421.","definition":"A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest intellectual disability and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation. ","keywords":null},{"identifier":"Bosch-Boonstra-Schaaf optic atrophy syndrome.","acronym":"BBSOAS.","accession":"DI-04111","synonyms":null,"cross_references":"MeSH; D029241.","definition":"An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment. ","keywords":null},{"identifier":"Boomerang dysplasia.","acronym":"BOOMD.","accession":"DI-01289","synonyms":null,"cross_references":"MeSH; D010009.","definition":"A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments. ","keywords":"KW-0242:Dwarfism.; "}]}