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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5420",
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"results": [
{
"identifier": "Portal hypertension, non-cirrhotic, 2.",
"acronym": "NCPH2.",
"accession": "DI-06180",
"synonyms": null,
"cross_references": "MeSH; D006975.",
"definition": "An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH2 patients have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency. ",
"keywords": null
},
{
"identifier": "Postaxial acrofacial dysostosis.",
"acronym": "POADS.",
"accession": "DI-02571",
"synonyms": "Miller syndrome.; ",
"cross_references": "MedGen; C0265257.",
"definition": "POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases. ",
"keywords": null
},
{
"identifier": "Posterior column ataxia with retinitis pigmentosa.",
"acronym": "PCARP.",
"accession": "DI-03015",
"synonyms": "AXPC1.; ",
"cross_references": "MeSH; D012174.",
"definition": "A neurodegenerative syndrome beginning in infancy with areflexia and retinitis pigmentosa. Nyctalopia (night blindness) and peripheral visual field loss are usually evident during late childhood or teenage years, with subsequent progressive constriction of the visual fields and loss of central retinal function over time. A sensory ataxia caused by degeneration of the posterior columns of the spinal cord results in a loss of proprioceptive sensation that is clinically evident in the second decade of life and gradually progresses. Scoliosis, camptodactyly, achalasia, gastrointestinal dysmotility, and a sensory peripheral neuropathy are variable features of the disease. Affected individuals have no clinical or radiological evidence of cerebral or cerebellar involvement. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Potocki-Shaffer syndrome.",
"acronym": "POSHS.",
"accession": "DI-02006",
"synonyms": "Chromosome 11p11.2 deletion syndrome.; ",
"cross_references": "MeSH; D002872.",
"definition": "A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis, and intellectual disability in some cases. ",
"keywords": null
},
{
"identifier": "Preaxial polydactyly 2.",
"acronym": "PPD2.",
"accession": "DI-03095",
"synonyms": null,
"cross_references": "MedGen; C1868114.",
"definition": "Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. ",
"keywords": null
},
{
"identifier": "Precocious puberty, central 1.",
"acronym": "CPPB1.",
"accession": "DI-01332",
"synonyms": null,
"cross_references": "MeSH; D011629.",
"definition": "A condition defined as the development of secondary sexual characteristics in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of puberty in the population. Central precocious puberty results from premature activation of the hypothalamic-pituitary-gonadal axis. ",
"keywords": null
},
{
"identifier": "Precocious puberty, central 2.",
"acronym": "CPPB2.",
"accession": "DI-03824",
"synonyms": null,
"cross_references": "MeSH; D011629.",
"definition": "A condition defined as the development of secondary sexual characteristics in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of puberty in the population. Central precocious puberty results from premature activation of the hypothalamic-pituitary-gonadal axis. ",
"keywords": null
},
{
"identifier": "Pre-eclampsia/eclampsia 4.",
"acronym": "PEE4.",
"accession": "DI-02187",
"synonyms": "Gestational proteinuric hypertension.; ",
"cross_references": "MeSH; D011225.",
"definition": "A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide. ",
"keywords": null
},
{
"identifier": "Pre-eclampsia/eclampsia 5.",
"acronym": "PEE5.",
"accession": "DI-03420",
"synonyms": "Gestational proteinuric hypertension.; ",
"cross_references": "MeSH; D011225.",
"definition": "A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide. ",
"keywords": null
},
{
"identifier": "Pregnancy loss, recurrent, 1.",
"acronym": "RPRGL1.",
"accession": "DI-03350",
"synonyms": "Recurrent embryonic loss.; Recurrent fetal loss.; Recurrent miscarriage.; Recurrent stillbirth.; RPL.; RPRGL.; Spontaneous recurrent abortion.; ",
"cross_references": "MeSH; D000026.",
"definition": "A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. ",
"keywords": null
},
{
"identifier": "Pregnancy loss, recurrent, 2.",
"acronym": "RPRGL2.",
"accession": "DI-03351",
"synonyms": null,
"cross_references": "MeSH; D000026.",
"definition": "A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. ",
"keywords": null
},
{
"identifier": "Pregnancy loss, recurrent, 3.",
"acronym": "RPRGL3.",
"accession": "DI-03352",
"synonyms": null,
"cross_references": "MeSH; D000026.",
"definition": "A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. ",
"keywords": null
},
{
"identifier": "Pregnancy loss, recurrent, 4.",
"acronym": "RPRGL4.",
"accession": "DI-04655",
"synonyms": null,
"cross_references": "MeSH; D000026.",
"definition": "A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. ",
"keywords": null
},
{
"identifier": "Prekallikrein deficiency.",
"acronym": "PKKD.",
"accession": "DI-02188",
"synonyms": "Fletcher factor deficiency.; PKK deficiency.; ",
"cross_references": "MeSH; D001778.",
"definition": "An autosomal recessive condition characterized by a clotting defect due to prolongation of activated partial thromboplastin time. Affected individuals are clinically asymptomatic. ",
"keywords": null
},
{
"identifier": "Premature aging syndrome, Penttinen type.",
"acronym": "PENTT.",
"accession": "DI-04566",
"synonyms": "Penttinen-Aula syndrome.; Penttinen syndrome.; ",
"cross_references": "MeSH; D030981.",
"definition": "A syndrome characterized by a prematurely aged appearance with lipoatrophy, epidermal and dermal atrophy along with hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acro-osteolysis. ",
"keywords": null
},
{
"identifier": "Premature chromatid separation trait.",
"acronym": "PCS.",
"accession": "DI-02189",
"synonyms": null,
"cross_references": "MedGen; C1864389.",
"definition": "Consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have reported decreased fertility. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Premature ovarian failure 1.",
"acronym": "POF1.",
"accession": "DI-02518",
"synonyms": "Hypergonadotropic ovarian failure X-linked.; Ovarian failure premature.; POF.; POFX.; POI.; Premature ovarian failure X-linked.; Primary ovarian insufficiency.; ",
"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": "Premature ovarian failure 10.",
"acronym": "POF10.",
"accession": "DI-04371",
"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": "Premature ovarian failure 11.",
"acronym": "POF11.",
"accession": "DI-04722",
"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": "Premature ovarian failure 12.",
"acronym": "POF12.",
"accession": "DI-04723",
"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.; "
}
]
}