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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2200&ordering=synonyms",
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"results": [
{
"identifier": "Spherocytosis 1.",
"acronym": "SPH1.",
"accession": "DI-02321",
"synonyms": "Hereditary spherocytosis type 1.; HS1.; ",
"cross_references": "MeSH; D013103.",
"definition": "A form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance can be autosomal dominant or autosomal recessive. Patients with homozygous mutations have a more severe disorder. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Spherocytosis 2.",
"acronym": "SPH2.",
"accession": "DI-02322",
"synonyms": "Hereditary spherocytosis type 2.; HS2.; Spherocytosis, hereditary, 2.; Spherocytosis, type 2, autosomal dominant.; ",
"cross_references": "MeSH; D013103.",
"definition": "An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity. ",
"keywords": null
},
{
"identifier": "Spherocytosis 3.",
"acronym": "SPH3.",
"accession": "DI-02323",
"synonyms": "Hereditary spherocytosis type 3.; HS3.; ",
"cross_references": "MedGen; C2678338.",
"definition": "Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Spherocytosis 5.",
"acronym": "SPH5.",
"accession": "DI-02325",
"synonyms": "Hereditary spherocytosis type 5.; HS5.; ",
"cross_references": "MedGen; C2675192.",
"definition": "Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported. ",
"keywords": null
},
{
"identifier": "Encephalopathy, acute, infection-induced, 8, herpes-specific.",
"acronym": "IIAE8.",
"accession": "DI-05212",
"synonyms": "Herpes simplex encephalitis 6.; ",
"cross_references": "MeSH; D018792.",
"definition": "A rare, often fatal complication of herpes simplex infection, caused by virus spreading in the central nervous system. Disease manifestations include low-grade fever, severe headache, nausea, vomiting, and lethargy. Neurological features include confusion, acute memory disturbances, disorientation, behavioral changes, hemiparesis and seizures. ",
"keywords": null
},
{
"identifier": "Otospondylomegaepiphyseal dysplasia, autosomal dominant.",
"acronym": "OSMEDA.",
"accession": "DI-01093",
"synonyms": "Heterozygous OSMED.; Pierre Robin syndrome with fetal chondrodysplasia.; Stickler-like syndrome.; Stickler syndrome 3.; Stickler syndrome non-ocular type.; Stickler syndrome type III.; STL3.; Weissenbacher-Zweymueller syndrome.; WZS.; ",
"cross_references": "MeSH; D003240.",
"definition": "An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. ",
"keywords": "KW-0209:Deafness.; KW-0757:Stickler syndrome.; "
},
{
"identifier": "GM2-gangliosidosis 2.",
"acronym": "GM2G2.",
"accession": "DI-00537",
"synonyms": "Hexosaminidase A and B deficiency.; Sandhoff disease.; SD.; ",
"cross_references": "MeSH; D012497.",
"definition": "An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. Clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula. ",
"keywords": "KW-0331:Gangliosidosis.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Humerofemoral hypoplasia with radiotibial ray deficiency.",
"acronym": "HHRRD.",
"accession": "DI-05281",
"synonyms": "HFHRTRD.; ",
"cross_references": "MeSH; D004480.",
"definition": "A severe disease characterized by reduction of all four limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present. HHRRD transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Hyperferritinemia with or without cataract.",
"acronym": "HRFTC.",
"accession": "DI-01718",
"synonyms": "HHCS.; Hyperferritinemia, hereditary, with congenital cataracts.; Hyperferritinemia-cataract syndrome.; ",
"cross_references": "MeSH; D019189.",
"definition": "An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.",
"acronym": "HHHS.",
"accession": "DI-01776",
"synonyms": "HHH syndrome.; Ornithine translocase deficiency.; ",
"cross_references": "MeSH; D056806.",
"definition": "An autosomal recessive disorder of the urea cycle characterized by onset in early life. The acute phase of the disease is characterized by vomiting, ataxia, lethargy, confusion, and coma. Chronic clinical manifestations include hypotonia, developmental delay, progressive encephalopathy with mental regression, and spastic paraparesis with pyramidal signs. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections.",
"acronym": "HIES2.",
"accession": "DI-02809",
"synonyms": "HIES autosomal recessive.; Hyper-IgE recurrent infection syndrome 2, autosomal recessive.; Hyper-IgE recurrent infection syndrome autosomal recessive.; Hyper-IgE syndrome autosomal recessive.; Hyperimmunoglobulin E syndrome type 2.; Nonskeletal hyper IgE syndrome.; ",
"cross_references": "MeSH; D007589.",
"definition": "A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement. ",
"keywords": null
},
{
"identifier": "Pyruvate kinase hyperactivity.",
"acronym": "PKHYP.",
"accession": "DI-02241",
"synonyms": "High red cell ATP syndrome.; ",
"cross_references": "MedGen; C1863224.",
"definition": "Autosomal dominant phenotype characterized by increase of red blood cell ATP. ",
"keywords": null
},
{
"identifier": "Immunodeficiency with hyper-IgM, type 1.",
"acronym": "HIGM1.",
"accession": "DI-02449",
"synonyms": "HIGM.; Hyper-IgM syndrome.; Hyper-IgM syndrome 1.; IHIS.; IMD3.; Immunodeficiency 3.; XHIM.; X-linked hyper IgM syndrome.; X-linked immunodeficiency with hyper-IgM 1.; ",
"cross_references": "MeSH; D053307.",
"definition": "Immunoglobulin isotype switch defect characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes. Affected males present at an early age (usually within the first year of life) recurrent bacterial and opportunistic infections, including Pneumocystis carinii pneumonia and intractable diarrhea due to cryptosporidium infection. Despite substitution treatment with intravenous immunoglobulin, the overall prognosis is rather poor, with a death rate of about 10% before adolescence. ",
"keywords": null
},
{
"identifier": "Waardenburg syndrome 4A.",
"acronym": "WS4A.",
"accession": "DI-01139",
"synonyms": "Hirschsprung disease with pigmentary anomaly.; Shah-Waardenburg syndrome.; Waardenburg-Shah syndrome.; Waardenburg syndrome type IVA.; Waardenburg syndrome with Hirschsprung disease type 4A.; ",
"cross_references": "MeSH; D014849.",
"definition": "A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). ",
"keywords": "KW-0367:Hirschsprung disease.; KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "Waardenburg syndrome 4B.",
"acronym": "WS4B.",
"accession": "DI-02677",
"synonyms": "Hirschsprung disease with pigmentary anomaly.; Shah-Waardenburg syndrome.; Waardenburg-Shah syndrome.; Waardenburg syndrome type IVB.; Waardenburg syndrome with Hirschsprung disease type 4B.; ",
"cross_references": "MeSH; D014849.",
"definition": "A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). ",
"keywords": "KW-0367:Hirschsprung disease.; KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "Waardenburg syndrome 4C.",
"acronym": "WS4C.",
"accession": "DI-02676",
"synonyms": "Hirschsprung disease with pigmentary anomaly.; Shah-Waardenburg syndrome.; Waardenburg-Shah syndrome.; Waardenburg syndrome type IVC.; Waardenburg syndrome with Hirschsprung disease type 4C.; ",
"cross_references": "MeSH; D014849.",
"definition": "A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). ",
"keywords": "KW-0367:Hirschsprung disease.; KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "Pelizaeus-Merzbacher disease.",
"acronym": "PMD.",
"accession": "DI-00903",
"synonyms": "HLD1.; Leukodystrophy hypomyelinating 1.; ",
"cross_references": "MeSH; D020371.",
"definition": "An X-linked recessive hypomyelinating disorder of the central nervous system in which myelin is not formed properly. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay. ",
"keywords": null
},
{
"identifier": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency.",
"acronym": "HMGCLD.",
"accession": "DI-00003",
"synonyms": "HL deficiency.; HMGCL deficiency.; HMG-CoA lyase deficiency.; Hydroxymethylglutaricaciduria.; Hydroxymethylglutaric aciduria.; ",
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases. ",
"keywords": null
},
{
"identifier": "Hemophagocytic lymphohistiocytosis, familial, 2.",
"acronym": "FHL2.",
"accession": "DI-01573",
"synonyms": "HLH2.; HPLH2.; ",
"cross_references": "MeSH; D051359.",
"definition": "A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. ",
"keywords": null
},
{
"identifier": "Hemophagocytic lymphohistiocytosis, familial, 3.",
"acronym": "FHL3.",
"accession": "DI-01574",
"synonyms": "HLH3.; HPLH3.; ",
"cross_references": "MeSH; D051359.",
"definition": "A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. ",
"keywords": null
}
]
}