{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4120&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4080&ordering=-identifier","results":[{"identifier":"Hallermann-Streiff syndrome.","acronym":"HSS.","accession":"DI-02798","synonyms":"Francois dyscephalic syndrome.; ","cross_references":"MeSH; D006210.","definition":"A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Intellectual disability is present in a minority of cases. ","keywords":null},{"identifier":"Hajdu-Cheney syndrome.","acronym":"HJCYS.","accession":"DI-02985","synonyms":"Acroosteolysis with osteoporosis and changes in skull and mandible.; Arthrodentoosteodysplasia.; Cheney syndrome.; HCS.; Serpentine Fibula-Polycystic Kidney Syndrome.; Serpentine fibula syndrome.; SFPKS.; ","cross_references":"MeSH; D031845.","definition":"A rare, autosomal dominant skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes. ","keywords":"KW-1285:Osteoporosis.; "},{"identifier":"Haim-Munk syndrome.","acronym":"HMS.","accession":"DI-00539","synonyms":"Cochin Jewish disorder.; Keratosis palmoplantaris with periodontopathia and onychogryposis.; ","cross_references":"MeSH; D007645.","definition":"An autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"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},{"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":"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":"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 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 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 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, 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 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 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, 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, 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, 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, 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":"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":"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}]}