{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5380&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5340&ordering=synonyms","results":[{"identifier":"Bleeding disorder, platelet-type, 20.","acronym":"BDPLT20.","accession":"DI-04706","synonyms":null,"cross_references":"MeSH; D006470.","definition":"A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT20 is characterized by moderate thrombocytopenia and platelet secretion defects. Inheritance is autosomal dominant. ","keywords":null},{"identifier":"Bleeding disorder, platelet-type, 19.","acronym":"BDPLT19.","accession":"DI-04294","synonyms":null,"cross_references":"MeSH; D006470.","definition":"A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. ","keywords":null},{"identifier":"Bleeding disorder, platelet-type, 18.","acronym":"BDPLT18.","accession":"DI-04150","synonyms":null,"cross_references":"MeSH; D006470.","definition":"A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. ","keywords":null},{"identifier":"Greig cephalo-poly-syndactyly syndrome.","acronym":"GCPS.","accession":"DI-01685","synonyms":null,"cross_references":"MedGen; C0265306.","definition":"Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism. ","keywords":null},{"identifier":"Griscelli syndrome 2.","acronym":"GS2.","accession":"DI-01687","synonyms":null,"cross_references":"MedGen; C1868679.","definition":"Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome. ","keywords":null},{"identifier":"Griscelli syndrome 3.","acronym":"GS3.","accession":"DI-01688","synonyms":null,"cross_references":"MedGen; C1836573.","definition":"Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. ","keywords":null},{"identifier":"Growth hormone deficiency with pituitary anomalies.","acronym":"GHDPA.","accession":"DI-02581","synonyms":null,"cross_references":"MeSH; D007018.","definition":"A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe. ","keywords":null},{"identifier":"Growth hormone deficiency, isolated partial.","acronym":"GHDP.","accession":"DI-04331","synonyms":null,"cross_references":"MeSH; D004393.","definition":"A disorder characterized by partial growth hormone deficiency resulting in growth delay and short stature, sometimes associated with recurrent episodes of abdominal pain, vomiting, ketosis and hypoglycemia. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant.","acronym":"GHISID2.","accession":"DI-05897","synonyms":null,"cross_references":"MeSH; D046150.","definition":"An autosomal dominant form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. GHISID2 patients usually have delayed bone age, delayed puberty, and decreased serum IGF1. Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies.","acronym":"GKAF.","accession":"DI-06106","synonyms":null,"cross_references":"MeSH; D000505.","definition":"An autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, hydrocephalus, genital hypoplasia, and early mortality. ","keywords":"KW-0209:Deafness.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "},{"identifier":"Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.","acronym":"GRIDHH.","accession":"DI-04841","synonyms":null,"cross_references":"MeSH; D009123.","definition":"An autosomal recessive disorder characterized by severe growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and hepatic dysfunction. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Guttmacher syndrome.","acronym":"GUTTS.","accession":"DI-01691","synonyms":null,"cross_references":"MedGen; C1867801.","definition":"Dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot- genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails. ","keywords":null},{"identifier":"Birt-Hogg-Dube syndrome 2.","acronym":"BHD2.","accession":"DI-06731","synonyms":null,"cross_references":"MeSH; D058249.","definition":"A form of Birt-Hogg-Dube syndrome, a rare genodermatosis usually manifesting in adulthood and characterized by multiple fibrofolliculomas, trichodiscomas, and acrochordons. Patients with this syndrome have an increased susceptibility to develop renal cell carcinoma, lung cysts, and spontaneous pneumothorax. BHD2 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Hamamy syndrome.","acronym":"HMMS.","accession":"DI-03480","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Harderoporphyria.","acronym":"HARPO.","accession":"DI-05848","synonyms":null,"cross_references":"MeSH; D011164.","definition":"An autosomal recessive form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. HARPO is a rare erythropoietic variant form characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Harel-Yoon syndrome.","acronym":"HAYOS.","accession":"DI-04881","synonyms":null,"cross_references":"MeSH; D065886.","definition":"A syndrome characterized by global developmental delay, hypotonia, intellectual disability, and axonal neuropathy. Some patients have optic atrophy and hypertrophic cardiomyopathy. HAYOS inheritance can be autosomal dominant or autosomal recessive. ","keywords":null},{"identifier":"Hartnup disorder.","acronym":"HND.","accession":"DI-01695","synonyms":null,"cross_references":"MedGen; C0018609.","definition":"Autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria. ","keywords":null},{"identifier":"Heart-hand syndrome Slovenian type.","acronym":"HHS-Slovenian.","accession":"DI-01697","synonyms":null,"cross_references":"MedGen; C1857829.","definition":"Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. ","keywords":null},{"identifier":"Bile acid malabsorption, primary, 2.","acronym":"PBAM2.","accession":"DI-06199","synonyms":null,"cross_references":"MeSH; D008286.","definition":"An autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease. ","keywords":null},{"identifier":"Heinz body anemias.","acronym":"HEIBAN.","accession":"DI-01698","synonyms":null,"cross_references":"MedGen; C0700299.","definition":"Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency. ","keywords":null}]}