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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6360",
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"results": [
{
"identifier": "Syndactyly 3.",
"acronym": "SDTY3.",
"accession": "DI-02352",
"synonyms": "Ring and little finger syndactyly.; Syndactyly of fingers IV and V.; Syndactyly type III.; ",
"cross_references": "MeSH; D013576.",
"definition": "A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected. ",
"keywords": null
},
{
"identifier": "Syndactyly 4.",
"acronym": "SDTY4.",
"accession": "DI-02353",
"synonyms": "Haas type syndactyly.; Polysyndactyly Haas type.; SD4.; Syndactyly type IV.; ",
"cross_references": "MeSH; D013576.",
"definition": "A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. ",
"keywords": null
},
{
"identifier": "Syndactyly 5.",
"acronym": "SDTY5.",
"accession": "DI-02354",
"synonyms": "Syndactyly type V.; Syndactyly with metacarpal and metatarsal fusion.; ",
"cross_references": "MeSH; D013576.",
"definition": "A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. The characteristic finding in SDTY5 is the presence of an associated metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and 4th fingers and the 2nd and 3rd toes. ",
"keywords": null
},
{
"identifier": "Syndactyly, mesoaxial synostotic, with phalangeal reduction.",
"acronym": "MSSD.",
"accession": "DI-04323",
"synonyms": "Mesoaxial synostotic syndactyly, Malik-Percin type.; Syndactyly, Malik-Percin type.; Syndactyly, type IX.; ",
"cross_references": "MeSH; D013576.",
"definition": "An autosomal recessive, non-syndromic digit anomaly characterized by mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes. ",
"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": "Systemic lupus erythematosus.",
"acronym": "SLE.",
"accession": "DI-02648",
"synonyms": null,
"cross_references": "MeSH; D008180.",
"definition": "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ",
"keywords": "KW-0772:Systemic lupus erythematosus.; "
},
{
"identifier": "Systemic lupus erythematosus 1.",
"acronym": "SLEB1.",
"accession": "DI-02649",
"synonyms": null,
"cross_references": "MeSH; D008180.",
"definition": "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ",
"keywords": "KW-0772:Systemic lupus erythematosus.; "
},
{
"identifier": "Systemic lupus erythematosus 10.",
"acronym": "SLEB10.",
"accession": "DI-02652",
"synonyms": null,
"cross_references": "MeSH; D008180.",
"definition": "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ",
"keywords": "KW-0772:Systemic lupus erythematosus.; "
},
{
"identifier": "Systemic lupus erythematosus 11.",
"acronym": "SLEB11.",
"accession": "DI-02653",
"synonyms": null,
"cross_references": "MeSH; D008180.",
"definition": "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ",
"keywords": "KW-0772:Systemic lupus erythematosus.; "
},
{
"identifier": "Systemic lupus erythematosus 16.",
"acronym": "SLEB16.",
"accession": "DI-03334",
"synonyms": null,
"cross_references": "MeSH; D008180.",
"definition": "A rare autosomal recessive form of systemic lupus erythematosus with childhood onset, characterized by high frequency of anti-neutrophil cytoplasmic antibodies and lupus nephritis. Systemic lupus erythematosus is a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ",
"keywords": "KW-0772:Systemic lupus erythematosus.; "
},
{
"identifier": "Systemic lupus erythematosus 17.",
"acronym": "SLEB17.",
"accession": "DI-06410",
"synonyms": null,
"cross_references": "MeSH; D008180.",
"definition": "A form of systemic lupus erythematosus, a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. SLEB17 is an X-linked dominant form characterized by onset of systemic autoinflammatory symptoms in the first decades of life. ",
"keywords": "KW-0772:Systemic lupus erythematosus.; "
},
{
"identifier": "Systemic lupus erythematosus 2.",
"acronym": "SLEB2.",
"accession": "DI-02650",
"synonyms": null,
"cross_references": "MeSH; D008180.",
"definition": "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ",
"keywords": "KW-0772:Systemic lupus erythematosus.; "
},
{
"identifier": "Systemic lupus erythematosus 6.",
"acronym": "SLEB6.",
"accession": "DI-02654",
"synonyms": null,
"cross_references": "MeSH; D008180.",
"definition": "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ",
"keywords": "KW-0772:Systemic lupus erythematosus.; "
},
{
"identifier": "Systemic lupus erythematosus 9.",
"acronym": "SLEB9.",
"accession": "DI-02651",
"synonyms": null,
"cross_references": "MeSH; D008180.",
"definition": "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ",
"keywords": "KW-0772:Systemic lupus erythematosus.; "
},
{
"identifier": "Systemic primary carnitine deficiency.",
"acronym": "CDSP.",
"accession": "DI-02356",
"synonyms": null,
"cross_references": "MedGen; C0342788.",
"definition": "Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. ",
"keywords": null
},
{
"identifier": "Takenouchi-Kosaki syndrome.",
"acronym": "TKS.",
"accession": "DI-04631",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "An autosomal dominant syndrome characterized by macrothrombocytopenia, lymphedema, intellectual disability, developmental delay, and distinctive facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Tan-Almurshedi syndrome.",
"acronym": "TANALS.",
"accession": "DI-06808",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual deficit, poor or absent speech, failure to thrive, short stature, microcephaly, and craniofacial anomalies. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Tangier disease.",
"acronym": "TGD.",
"accession": "DI-01742",
"synonyms": "Analphalipoproteinemia.; HDLD1.; High density lipoprotein deficiency, Tangier Type.; High density lipoprotein deficiency 1.; ",
"cross_references": "MeSH; D013631.",
"definition": "An autosomal recessive disorder characterized by near absence of plasma high density lipoproteins, low serum HDL cholesterol, and massive tissue deposition of cholesterol esters. Clinical features include large yellow-orange tonsils, hepatomegaly, splenomegaly, enlarged lymph nodes, and often sensory polyneuropathy. ",
"keywords": null
},
{
"identifier": "Tardive tibial muscular dystrophy.",
"acronym": "TMD.",
"accession": "DI-02358",
"synonyms": "Udd myopathy.; ",
"cross_references": "MedGen; C1838244.",
"definition": "Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later. ",
"keywords": null
},
{
"identifier": "TARP syndrome.",
"acronym": "TARPS.",
"accession": "DI-02837",
"synonyms": "Pierre Robin syndrome with congenital heart malformation and clubfoot.; Talipes equinovarus atrial septal defect robin sequence and persistence of left superior vena cava.; ",
"cross_references": "MeSH; D003025.",
"definition": "A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects. ",
"keywords": null
}
]
}