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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3340&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3300&ordering=synonyms",
"results": [
{
"identifier": "Immunodeficiency 104.",
"acronym": "IMD104.",
"accession": "DI-01018",
"synonyms": "SCIDBNK.; Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-positive/NK cell-positive.; Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell positive/NK-cell positive.; ",
"cross_references": "MeSH; D016511.",
"definition": "A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive.",
"acronym": "T(-)B(-)NK(+) SCID.",
"accession": "DI-01019",
"synonyms": "SCID T cell-negative B cell-negative NK cell-positive.; Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-negative/NK cell-positive.; Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell negative/NK-cell positive.; ",
"cross_references": "MeSH; D016511.",
"definition": "A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Immunodeficiency 49.",
"acronym": "IMD49.",
"accession": "DI-04911",
"synonyms": "SCID, T cell-negative, B cell-positive, NK cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities.; SCID, T-cell-negative, B-cell-positive, NK-cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities.; Severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities.; ",
"cross_references": "MeSH; D016511.",
"definition": "A form of severe combined immunodeficiency characterized by severe T- cell lymphopenia, no detectable T-cell receptor excision circles, no naive helper CD4+ T-cells, and impaired T-cell proliferative response. In addition to primary immunodeficiency, affected individuals manifest multiple abnormal systemic features, including severe delayed psychomotor development, intellectual disability, spastic quadriplegia, and craniofacial abnormalities. ",
"keywords": "KW-0705:SCID.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Disabling pansclerotic morphea of childhood.",
"acronym": "DPMC.",
"accession": "DI-06718",
"synonyms": "Scleroderma, juvenile localized.; ",
"cross_references": "MeSH; D012594.",
"definition": "An autosomal dominant, severe systemic inflammatory disorder that is part of the juvenile localized scleroderma spectrum. DPMC is characterized by poor wound healing with rapidly progressive deep fibrosis involving the mucous membranes, dermis, subcutaneous fat, fascia, muscles, and bone, leading to contractures, musculoskeletal atrophy, and articular ankylosis. Systemic manifestations include cytopenias and hypogammaglobulinemia, but scleroderma-associated autoantibodies are usually not present. The disorder is associated with high morbidity and mortality due to squamous-cell carcinoma, restrictive pulmonary disease, sepsis, and gangrene. ",
"keywords": null
},
{
"identifier": "Synpolydactyly 1.",
"acronym": "SPD1.",
"accession": "DI-02355",
"synonyms": "SDYT2.; Syndactyly type 2.; ",
"cross_references": "MedGen; C1861368.",
"definition": "Limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance. ",
"keywords": null
},
{
"identifier": "Sea-blue histiocyte disease.",
"acronym": "SBHD.",
"accession": "DI-02290",
"synonyms": "Sea-blue histiocytosis.; ",
"cross_references": "MedGen; C0036489.",
"definition": "Characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses. ",
"keywords": null
},
{
"identifier": "Spondyloepiphyseal dysplasia, Stanescu type.",
"acronym": "SEDSTN.",
"accession": "DI-04552",
"synonyms": "SED, Stanescu type.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal dominant spondyloepiphyseal dysplasia characterized by glycoproteins accumulation in chondrocytes. Clinical features include progressive joint contractures, premature degenerative joint disease particularly in the knee, hip and finger joints, and osseous distention of the metaphyseal ends of the phalanges causing swolling of interphalangeal joints of the hands. Radiological features include generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. ",
"keywords": null
},
{
"identifier": "Spondyloepiphyseal dysplasia, Kondo-Fu type.",
"acronym": "SEDKF.",
"accession": "DI-05540",
"synonyms": "SED with elevated blood lysosomal enzymes.; ",
"cross_references": "MeSH; D010009.",
"definition": "A disorder characterized by severely retarded growth, spondyloepiphyseal dysplasia, reduced bone mineral density, and markedly elevated plasma levels of various lysosomal enzymes. Additional features include pectus carinatum, kyphosis, a waddling gait, brachydactyly and dysmorphic facial features. SEDKF transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Seizures, scoliosis, and macrocephaly/microcephaly syndrome.",
"acronym": "SSMS.",
"accession": "DI-04595",
"synonyms": "Seizures-scoliosis-macrocephaly syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Immunodeficiency 48.",
"acronym": "IMD48.",
"accession": "DI-02295",
"synonyms": "Selective T-cell defect.; STCD.; ",
"cross_references": "MeSH; D016511.",
"definition": "A form of severe immunodeficiency characterized by a selective absence of CD8+ T-cells. ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 7.",
"acronym": "STHAG7.",
"accession": "DI-04606",
"synonyms": "Selective tooth agenesis 7.; ",
"cross_references": "MeSH; D000848.",
"definition": "An autosomal dominant form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 8.",
"acronym": "STHAG8.",
"accession": "DI-04805",
"synonyms": "Selective tooth agenesis 8.; ",
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG8 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, aggrecan type.",
"acronym": "SEMDAG.",
"accession": "DI-02539",
"synonyms": "SEMD aggrecan type.; ",
"cross_references": "MeSH; D001848.",
"definition": "A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures.",
"acronym": "SEMDJL1.",
"accession": "DI-03845",
"synonyms": "SEMDJL-Beighton type.; Spondyloepimetaphyseal dysplasia with joint laxity Beighton type.; ",
"cross_references": "MeSH; D010009.",
"definition": "A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Liberfarb syndrome.",
"acronym": "LIBF.",
"accession": "DI-05845",
"synonyms": "SEMDLIBF.; Spondyloepimetaphyseal dysplasia, Liberfarb type.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive multisystem disorder affecting the eye, ear, bone, and brain development. Clinical features include early-onset retinal degeneration, congenital cataracts, sensorineural hearing loss, microcephaly, intellectual disability, white matter changes, mild facial dysmorphism, and skeletal dysplasia with platyspondyly, scoliosis and short stature. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, Missouri type.",
"acronym": "SEMDM.",
"accession": "DI-02332",
"synonyms": "SEMD-MO.; Spondyloepimetaphyseal dysplasia type 2.; Spondyloepimetaphyseal dysplasia type Missouri.; Spondylometaepiphyseal dysplasia type Missouri.; ",
"cross_references": "MeSH; D001848.",
"definition": "A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age. ",
"keywords": null
},
{
"identifier": "Brachyolmia type 4 with mild epiphyseal and metaphyseal changes.",
"acronym": "BCYM4.",
"accession": "DI-02331",
"synonyms": "SEMD Pakistani type.; Spondylodysplasia and premature pubarche.; Spondylometaepiphyseal dysplasia Pakistani type.; ",
"cross_references": "MeSH; D001848.",
"definition": "A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM4 is an autosomal recessive form with mild epiphyseal and metaphyseal changes. Clinical features include short stature evidenced at birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints. Some BCYM4 patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, Shohat type.",
"acronym": "SEMDSH.",
"accession": "DI-05181",
"synonyms": "SEMD, Shohat type.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal dysplasia that affects cartilage development. It is characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, X-linked.",
"acronym": "SEMDX.",
"accession": "DI-04786",
"synonyms": "SEMD, X-linked.; ",
"cross_references": "MeSH; D010009.",
"definition": "An X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Cranioectodermal dysplasia 2.",
"acronym": "CED2.",
"accession": "DI-02916",
"synonyms": "Sensenbrenner syndrome 2.; ",
"cross_references": "MeSH; D004476.",
"definition": "A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities include widely spaced, hypoplastic and fused teeth. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1186:Ciliopathy.; "
}
]
}