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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6380&ordering=synonyms",
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"results": [
{
"identifier": "Premature ovarian failure 2A.",
"acronym": "POF2A.",
"accession": "DI-02191",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ",
"keywords": "KW-1066:Premature ovarian failure.; "
},
{
"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": "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": "Premature ovarian failure 24.",
"acronym": "POF24.",
"accession": "DI-06897",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF24 inheritance is autosomal recessive. ",
"keywords": "KW-1066:Premature ovarian failure.; "
},
{
"identifier": "Premature ovarian failure 23.",
"acronym": "POF23.",
"accession": "DI-06828",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF23 inheritance is autosomal recessive. ",
"keywords": "KW-1066:Premature ovarian failure.; "
},
{
"identifier": "Premature ovarian failure 22.",
"acronym": "POF22.",
"accession": "DI-06782",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF22 is an autosomal recessive form characterized by infertility, and small to atrophic ovaries and no visible ovarian follicles. ",
"keywords": "KW-1066:Premature ovarian failure.; "
},
{
"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": "Premature ovarian failure 21.",
"acronym": "POF21.",
"accession": "DI-06641",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF21 inheritance is autosomal dominant. ",
"keywords": "KW-1066:Premature ovarian failure.; "
},
{
"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": "Premature ovarian failure 20.",
"acronym": "POF20.",
"accession": "DI-06466",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF20 inheritance is autosomal recessive. ",
"keywords": "KW-1066:Premature ovarian failure.; "
},
{
"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": "Premature ovarian failure 19.",
"acronym": "POF19.",
"accession": "DI-06064",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF19 is an autosomal recessive form characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life. ",
"keywords": "KW-1066:Premature ovarian failure.; "
},
{
"identifier": "Premature ovarian failure 18.",
"acronym": "POF18.",
"accession": "DI-06020",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF18 is an autosomal recessive form characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life. The uterus is small, ovaries may be small or rudimentary, and do not show follicular activity. ",
"keywords": "KW-1066:Premature ovarian failure.; "
},
{
"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": "Premature ovarian failure 17.",
"acronym": "POF17.",
"accession": "DI-05974",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF17 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": "KW-1066:Premature ovarian failure.; "
},
{
"identifier": "Premature ovarian failure 16.",
"acronym": "POF16.",
"accession": "DI-05724",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "An autosomal dominant form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ",
"keywords": "KW-1066:Premature ovarian failure.; "
},
{
"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.; "
}
]
}