{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2580&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2540&ordering=-synonyms","results":[{"identifier":"Glycine encephalopathy with normal serum glycine.","acronym":"GCENSG.","accession":"DI-04929","synonyms":null,"cross_references":"MeSH; D020739.","definition":"An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. ","keywords":null},{"identifier":"Acrofacial dysostosis, Cincinnati type.","acronym":"AFDCIN.","accession":"DI-04483","synonyms":null,"cross_references":"MeSH; D008342.","definition":"A form of acrofacial dysostosis, a group of disorders characterized by malformations of the craniofacial skeleton and, in some patients, the limbs. AFDCIN patients may also have structural cardiac defects and neurologic abnormalities including developmental delay, hypotonia, motor delay and seizures. AFDCIN inheritance is autosomal dominant. ","keywords":null},{"identifier":"Anorexia nervosa.","acronym":"ANON.","accession":"DI-04568","synonyms":null,"cross_references":"MeSH; D000856.","definition":"An eating disorder characterized by the lack or loss of appetite, excess fear of becoming overweight, body image disturbance, significant weight loss, refusal to maintain minimal normal weight, and amenorrhea. ","keywords":null},{"identifier":"Iminoglycinuria.","acronym":"IG.","accession":"DI-02940","synonyms":null,"cross_references":"MeSH; D000608.","definition":"A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. ","keywords":null},{"identifier":"Joubert syndrome 38.","acronym":"JBTS38.","accession":"DI-06194","synonyms":null,"cross_references":"MeSH; D052177.","definition":"A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS38 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Hemolytic uremic syndrome, atypical, 7.","acronym":"AHUS7.","accession":"DI-03798","synonyms":null,"cross_references":"MeSH; D065766.","definition":"An atypical form of hemolytic uremic syndrome characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system. ","keywords":"KW-1068:Hemolytic uremic syndrome.; "},{"identifier":"Anterior segment anomalies with or without cataract.","acronym":"ASA.","accession":"DI-03442","synonyms":null,"cross_references":"MeSH; D005124.","definition":"A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract. ","keywords":null},{"identifier":"Immunodeficiency 120.","acronym":"IMD120.","accession":"DI-06904","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder manifesting in early childhood with recurrent upper and lower respiratory tract infections, lymphopenia, and hypogammaglobulinemia. Affected individuals may also develop persistent viral infections, particularly of the herpes family. Additional variable features include hearing loss, speech delay, short stature, and mildly impaired intellectual development. ","keywords":null},{"identifier":"Intellectual developmental disorder, X-linked, syndromic 33.","acronym":"MRXS33.","accession":"DI-04617","synonyms":null,"cross_references":"MeSH; D038901.","definition":"A syndrome characterized by intellectual deficit, delayed psychomotor development, delayed speech and language, and characteristic facial features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with paroxysmal dyskinesia or seizures.","acronym":"IDDPADS.","accession":"DI-06007","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, language delay, and early- onset paroxysmal hyperkinetic movement disorder that manifests as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. Some patients may also develop epileptic seizures or only have seizures without a movement disorder. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Microcephaly 16, primary, autosomal recessive.","acronym":"MCPH16.","accession":"DI-04594","synonyms":null,"cross_references":"MeSH; D008831.","definition":"A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ","keywords":"KW-0905:Primary microcephaly.; "},{"identifier":"Immunodeficiency 15B.","acronym":"IMD15B.","accession":"DI-04000","synonyms":null,"cross_references":"MeSH; D016511.","definition":"An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells. ","keywords":"KW-0705:SCID.; "},{"identifier":"Mitochondrial phosphoenolpyruvate carboxykinase deficiency.","acronym":"M-PEPCKD.","accession":"DI-01986","synonyms":null,"cross_references":"MedGen; C1849821.","definition":"Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. ","keywords":null},{"identifier":"Immunodeficiency 15A.","acronym":"IMD15A.","accession":"DI-05387","synonyms":null,"cross_references":"MeSH; D016511.","definition":"An autosomal dominant primary immunodeficiency disorder characterized by lymphopenia, inflammation and immune activation of both CD4+ and CD8+ T cells. Patients suffer from recurrent respiratory tract infections, oral candidiasis, and otitis media. ","keywords":null},{"identifier":"Microcephaly 30, primary, autosomal recessive.","acronym":"MCPH30.","accession":"DI-06562","synonyms":null,"cross_references":"MeSH; D008831.","definition":"A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH30 is characterized by small head, poor overall growth, and global developmental delay with variably impaired intellectual development. Affected individuals may also have variable congenital anomalies, including atrial septal defect, dysmorphic facial features, tracheal stenosis, and anomalies of the skin and teeth. ","keywords":"KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "},{"identifier":"Immunodeficiency 20.","acronym":"IMD20.","accession":"DI-04050","synonyms":null,"cross_references":"MeSH; D007153.","definition":"A rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Affected individuals typically present with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV). ","keywords":null},{"identifier":"Hypotonia-cystinuria syndrome.","acronym":"HCS.","accession":"DI-01801","synonyms":null,"cross_references":"MedGen; C1848030.","definition":"Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. ","keywords":null},{"identifier":"Macular degeneration, age-related, 12.","acronym":"ARMD12.","accession":"DI-03063","synonyms":null,"cross_references":"MeSH; D008268.","definition":"A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ","keywords":"KW-0913:Age-related macular degeneration.; "},{"identifier":"Immunodeficiency 96.","acronym":"IMD96.","accession":"DI-06359","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. ","keywords":null},{"identifier":"Pulmonary hypertension, primary, 5.","acronym":"PPH5.","accession":"DI-06437","synonyms":null,"cross_references":"MeSH; D006976.","definition":"A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH5 is an autosomal recessive form characterized by the onset in infancy. Death in early childhood is common. ","keywords":null}]}