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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=380&ordering=-identifier",
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{
"identifier": "Taurodontism, microdontia, and dens invaginatus.",
"acronym": "TMDI.",
"accession": "DI-06767",
"synonyms": null,
"cross_references": "MeSH; D014071.",
"definition": "An X-linked recessive disorder characterized by the triad of taurodontism, microdontia, and dens invaginatus. Taurodontism is a rare developmental dental condition that largely affects the molar teeth and may be associated with hypodontia. In taurodontism, the crown of the molar tooth and pulp chamber are disproportionately longer than the roots. Microdontia, a mild form of hypodontia, is defined as smaller than normal teeth with shortened crowns (vertically or mesio-distally) and loss of contact areas between the teeth. Dens invaginatus or dens invagination is a tooth developmental anomaly that results from either the dental papilla folding into the developing tooth or the entire enamel organ folding into the dental papilla. In both instances, this leads to the formation of a tooth within a tooth. ",
"keywords": null
},
{
"identifier": "Tatton-Brown-Rahman syndrome.",
"acronym": "TBRS.",
"accession": "DI-04151",
"synonyms": "DNMT3A overgrowth syndrome.; ",
"cross_references": "MeSH; D008607.",
"definition": "An overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Tarsal-carpal coalition syndrome.",
"acronym": "TCC.",
"accession": "DI-02359",
"synonyms": null,
"cross_references": "MedGen; C1861306.",
"definition": "Autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families. ",
"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
},
{
"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": "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": "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": "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": "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": "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 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 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 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 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 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 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 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.",
"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": "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": "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
}
]
}