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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6380&ordering=identifier",
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"results": [
{
"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": "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": "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": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy.",
"acronym": "TIDAND.",
"accession": "DI-02357",
"synonyms": "Pignata Guarino syndrome.; Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy.; Winged helix deficiency.; ",
"cross_references": "MeSH; D009260.",
"definition": "A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "T-cell immunodeficiency with thymic aplasia.",
"acronym": "TIDTA.",
"accession": "DI-05795",
"synonyms": "Immune defect due to absence of thymus.; Nezelof syndrome.; T-lymphocyte deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by selective hypo- or aplasia of the thymus, T-cell immunodeficiency due to impaired T-cell development, and increased susceptibility to viral infections. ",
"keywords": null
},
{
"identifier": "T-cell lymphoma, subcutaneous panniculitis-like.",
"acronym": "SPTCL.",
"accession": "DI-05542",
"synonyms": null,
"cross_references": "MeSH; D016399.",
"definition": "An uncommon form of T-cell non-Hodgkin lymphoma, in which cytotoxic CD8+ T-cells infiltrate subcutaneous adipose tissue, and rimming adipocytes in a lace-like pattern. Affected individuals typically present with multiple subcutaneous nodules, systemic B-cell symptoms, and, in a subset of cases, autoimmune disorders, most commonly systemic lupus erythematosus. A subset of patients develop hemophagocytic lymphohistiocytosis. SPTCL transmission pattern is consistent with autosomal recessive inheritance with incomplete penetrance. ",
"keywords": null
},
{
"identifier": "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant.",
"acronym": "TLIND.",
"accession": "DI-05787",
"synonyms": null,
"cross_references": "MeSH; D008231.",
"definition": "An autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, and increased susceptibility to recurrent infections, mainly respiratory viral infections. Additional features may include impaired thymic development, skin abnormalities, such as atopic dermatitis, and nail dystrophy. ",
"keywords": null
},
{
"identifier": "Teebi hypertelorism syndrome 1.",
"acronym": "TBHS1.",
"accession": "DI-05364",
"synonyms": "BBB syndrome.; Brachycephalofrontonasal dysplasia.; Chromosome 22q11.2 deletion syndrome, Opitz phenotype.; GBBB syndrome.; G syndrome.; Hypertelorism, Teebi type.; Hypertelorism-hypospadias syndrome.; Hypertelorism with esophageal abnormality and hypospadias.; Hypospadias-dysphagia syndrome.; OGS2.; Opitz BBBG syndrome.; Opitz-Frias syndrome.; Opitz GBBB syndrome, autosomal dominant.; Opitz-G syndrome, type II.; Opitz oculogenitolaryngeal syndrome, type II.; TBHS.; Teebi hypertelorism syndrome.; ",
"cross_references": "MeSH; D006972.",
"definition": "A form of Teebi hypertelorism syndrome, a syndrome characterized by an abnormally increased distance between ocular orbits, and facial features that can resemble craniofrontonasal dysplasia such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Some affected individuals have limb, urogenital, umbilical and cardiac defects. Developmental delay and/or impaired intellectual development have been observed in some patients. TBHS1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Teebi hypertelorism syndrome 2.",
"acronym": "TBHS2.",
"accession": "DI-06331",
"synonyms": null,
"cross_references": "MeSH; D006972.",
"definition": "A form of Teebi hypertelorism syndrome, a syndrome characterized by an abnormally increased distance between ocular orbits, and facial features that can resemble craniofrontonasal dysplasia such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Some affected individuals have limb, urogenital, umbilical and cardiac defects. Developmental delay and/or impaired intellectual development have been observed in some patients. TBHS2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Telangiectasia, hereditary hemorrhagic, 1.",
"acronym": "HHT1.",
"accession": "DI-01716",
"synonyms": "Hereditary hemorrhagic telangiectasia of Rendu, Osler, and Weber.; ORW1.; ORW disease.; Osler-Rendu-Weber syndrome.; Osler-Rendu-Weber syndrome 1.; ",
"cross_references": "MeSH; D013683.",
"definition": "A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain. ",
"keywords": null
},
{
"identifier": "Telangiectasia, hereditary hemorrhagic, 2.",
"acronym": "HHT2.",
"accession": "DI-01717",
"synonyms": null,
"cross_references": "MeSH; D013683.",
"definition": "A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain. ",
"keywords": null
},
{
"identifier": "Telangiectasia, hereditary hemorrhagic, 5.",
"acronym": "HHT5.",
"accession": "DI-03967",
"synonyms": null,
"cross_references": "MeSH; D013683.",
"definition": "A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain. ",
"keywords": null
},
{
"identifier": "Temple-Baraitser syndrome.",
"acronym": "TMBTS.",
"accession": "DI-04297",
"synonyms": "TBS.; ",
"cross_references": "MeSH; D017880.",
"definition": "A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Temtamy preaxial brachydactyly syndrome.",
"acronym": "TPBS.",
"accession": "DI-03156",
"synonyms": "Preaxial brachydactyly syndrome Temtamy type.; ",
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by multiple congenital anomalies, intellectual disability, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism. ",
"keywords": null
},
{
"identifier": "Temtamy syndrome.",
"acronym": "TEMTYS.",
"accession": "DI-03719",
"synonyms": null,
"cross_references": "MeSH; D061085.",
"definition": "An autosomal recessive syndrome characterized by intellectual disability, variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Tenorio syndrome.",
"acronym": "TNORS.",
"accession": "DI-04352",
"synonyms": "Overgrowth, macrocephaly, and intellectual disability syndrome.; ",
"cross_references": "MeSH; D058627.",
"definition": "A disease characterized by overgrowth, macrocephaly, and intellectual disability. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Terminal osseous dysplasia.",
"acronym": "TOD.",
"accession": "DI-02914",
"synonyms": "Digital osseous dysplasia with facial pigmentary defects and multiple frenula.; ODPD.; ODPF.; ODPF syndrome.; Osseous dysplasia and pigmentary defects.; Terminal osseous dysplasia and pigmentary defects.; TODPD.; ",
"cross_references": "MeSH; D001848.",
"definition": "A rare X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin and recurrent digital fibroma during infancy. A significant phenotypic variability is observed in affected females. ",
"keywords": null
},
{
"identifier": "Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1.",
"acronym": "TEBIVANED1.",
"accession": "DI-06350",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder with onset in infancy, characterized by poor overall growth, microcephaly, hypotonia, profound global developmental delay, impaired intellectual development, poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose. Other variable neurologic and systemic features may also occur. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 2.",
"acronym": "TEBIVANED2.",
"accession": "DI-06351",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by poor overall growth, microcephaly, hypotonia, profound global developmental delay, impaired intellectual development, absent speech, and characteristic dysmorphic facial features, including hypertelorism, abnormal nose, and wide mouth. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3.",
"acronym": "TEBIVANED3.",
"accession": "DI-06448",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. More variable features include hypotonia, microcephaly, and dysmorphic facies. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}