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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6400&ordering=synonyms",
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"results": [
{
"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.; "
},
{
"identifier": "Testicular anomalies with or without congenital heart disease.",
"acronym": "TACHD.",
"accession": "DI-03956",
"synonyms": null,
"cross_references": "MeSH; D058490.",
"definition": "A 46,XY disorder of sex development with variable clinical presentation and defects in testicular differentiation and function. Clinical features include ambiguous genitalia, fused labioscrotal folds, hypospadias, microphallus, and bilateral inguinal hernia containing gonads. ",
"keywords": null
},
{
"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 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": "Tetraamelia syndrome 2.",
"acronym": "TETAMS2.",
"accession": "DI-05280",
"synonyms": null,
"cross_references": "MeSH; D004480.",
"definition": "A form of tetraamelia, a rare disease characterized by rudimentary appendages or complete absence of all four limbs, and other anomalies such as craniofacial, nervous system, pulmonary, skeletal and urogenital defects. TETAMS2 patients manifest limb deformities, bilateral agenesis of the lungs, abnormalities of the pulmonary vasculature, labioscrotal fold aplasia, and dysmorphic features including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, and microretrognathia. TETAMS2 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Tetralogy of Fallot.",
"acronym": "TOF.",
"accession": "DI-02362",
"synonyms": null,
"cross_references": "MeSH; D013771.",
"definition": "A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. ",
"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": "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": "Thauvin-Robinet-Faivre syndrome.",
"acronym": "TROFAS.",
"accession": "DI-04839",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "A rare autosomal recessive syndrome characterized by generalized overgrowth, developmental delay, learning disabilities, and variable congenital abnormalities including congenital heart defects, renal dysplasia, and skeletal defects. ",
"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, 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": "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": "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": "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": "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": "Porokeratosis 9, multiple types.",
"acronym": "POROK9.",
"accession": "DI-04569",
"synonyms": null,
"cross_references": "MeSH; D017499.",
"definition": "A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. ",
"keywords": null
},
{
"identifier": "Porokeratosis 8, disseminated superficial actinic type.",
"acronym": "POROK8.",
"accession": "DI-04250",
"synonyms": null,
"cross_references": "MeSH; D017499.",
"definition": "A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun- exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near- complete penetrance by the third or fourth decade of life. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies.",
"acronym": "THC11.",
"accession": "DI-06814",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC11 is an autosomal dominant, syndromic form. Affected individuals have chronic and persistent thrombocytopenia, dysmorphic facial features, and multiple congenital anomalies with involvement of the cardiovascular, genitourinary, neurologic and skeletal systems. Additional features include leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 12 with or without myopathy.",
"acronym": "THC12.",
"accession": "DI-06867",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC12 is an autosomal recessive form manifesting from infancy or early childhood with bleeding episodes. Clinical features include petechiae, easy bruising, epistaxis, hematomas, menorrhagia, and increased bleeding after trauma or surgery. Rare patients may have thrombocytopenia without bleeding. Some affected individuals have myopathic features, usually apparent in the second or third decades of life. ",
"keywords": null
}
]
}