{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2620","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2580","results":[{"identifier":"Greenberg dysplasia.","acronym":"GRBGD.","accession":"DI-01761","synonyms":"Chondrodystrophy, hydropic and prenatally lethal type.; HEM skeletal dysplasia.; Hydrops-ectopic calcification-moth-eaten skeletal dysplasia.; Moth-eaten skeletal dysplasia.; ","cross_references":"MeSH; D010009.","definition":"A rare autosomal recessive chondrodystrophy characterized by early in utero lethality. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers. ","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 1.","acronym":"GS1.","accession":"DI-01686","synonyms":"Griscelli syndrome with primary neurologic impairment.; ","cross_references":"MedGen; C1859194.","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, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and intellectual disability, without apparent immune abnormalities. ","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, isolated, 1A.","acronym":"IGHD1A.","accession":"DI-01841","synonyms":"Growth hormone deficiency isolated autosomal recessive.; IGHD IA.; Illig-type growth hormone deficiency.; Isolated growth hormone deficiency type IA.; Pituitary dwarfism I.; Primordial dwarfism.; Sexual ateleiotic dwarfism.; ","cross_references":"MeSH; D004393.","definition":"An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Growth hormone deficiency, isolated, 1B.","acronym":"IGHD1B.","accession":"DI-03019","synonyms":"IGHD IB.; Isolated growth hormone deficiency type IB.; Pituitary dwarfism I.; ","cross_references":"MeSH; D004393.","definition":"An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Growth hormone deficiency, isolated, 2.","acronym":"IGHD2.","accession":"DI-01842","synonyms":"Growth hormone deficiency isolated autosomal dominant.; IGHD II.; Isolated growth hormone deficiency type II.; Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant.; ","cross_references":"MeSH; D004393.","definition":"An autosomal dominant deficiency of growth hormone leading to short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Growth hormone deficiency, isolated, 3, with agammaglobulinemia.","acronym":"IGHD3.","accession":"DI-02446","synonyms":"Agammaglobulinemia and isolated growth hormone deficiency.; Fleisher syndrome.; Isolated growth hormone deficiency, type III, with agammaglobulinemia.; Isolated growth hormone deficiency type 3.; X-linked hypogammaglobulinemia and isolated growth hormone deficiency.; ","cross_references":"MeSH; D004393.","definition":"An X-linked recessive disorder characterized by growth hormone deficiency, short stature, delayed bone age, agammaglobulinemia with markedly reduced numbers of B cells, and good response to treatment with growth hormone. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Growth hormone deficiency, isolated, 4.","acronym":"IGHD4.","accession":"DI-05358","synonyms":"Dwarfism of Sindh.; Growth hormone deficiency, isolated, type IV.; Isolated growth hormone deficiency, type IV.; ","cross_references":"MeSH; D004393.","definition":"An autosomal recessive deficiency of growth hormone leading to early and severe growth failure and short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. ","keywords":"KW-0242:Dwarfism.; "},{"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 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 insensitivity, partial.","acronym":"GHIP.","accession":"DI-02300","synonyms":"Isolated partial growth hormone deficiency.; Partial IGHD.; ","cross_references":"MeSH; D004393.","definition":"A disease characterized by partial resistance to growth hormone resulting in short stature. Short stature is defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well- nourished, healthy, genetically relevant population. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive.","acronym":"GHISID1.","accession":"DI-01878","synonyms":"Growth hormone insensitivity due to postreceptor defect.; Laron syndrome due to a post-receptor defect.; Laron syndrome type II.; Laron type dwarfism II.; ","cross_references":"MeSH; D046150.","definition":"An autosomal recessive 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. Most, but not all, patients have features of immune dysregulation. ","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, developmental delay, and facial dysmorphism.","acronym":"GDFD.","accession":"DI-02561","synonyms":"Growth retardation developmental delay coarse facies early death.; Lethal polymalformative syndrome Boissel type.; ","cross_references":"MeSH; D000015.","definition":"A severe polymalformation syndrome characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits and characteristic facial dysmorphism. In some patients, structural brain malformations, cardiac defects, genital anomalies, and cleft palate are observed. Early death occurs by the age of 3 years. ","keywords":null},{"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":"Hailey-Hailey disease.","acronym":"HHD.","accession":"DI-01693","synonyms":"BCPM.; Benign chronic pemphigus.; Pemphigus, benign familial.; ","cross_references":"MeSH; D016506.","definition":"An autosomal dominant cutaneous disorder characterized by erythema, skin blisters and erosions, and suprabasal acantholysis. Blisters and erosions most often affect the neck, armpits, skin folds, groin and genitals. ","keywords":null}]}