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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5580&ordering=identifier",
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"results": [
{
"identifier": "Pyruvate kinase hyperactivity.",
"acronym": "PKHYP.",
"accession": "DI-02241",
"synonyms": "High red cell ATP syndrome.; ",
"cross_references": "MedGen; C1863224.",
"definition": "Autosomal dominant phenotype characterized by increase of red blood cell ATP. ",
"keywords": null
},
{
"identifier": "Quebec platelet disorder.",
"acronym": "QPD.",
"accession": "DI-03256",
"synonyms": "BDPLT5.; Bleeding disorder platelet-type 5.; Factor V Quebec.; ",
"cross_references": "MeSH; D006470.",
"definition": "An autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. ",
"keywords": null
},
{
"identifier": "Question mark ears, isolated.",
"acronym": "QME.",
"accession": "DI-04053",
"synonyms": "Congenital auricular cleft.; Cosman deformity of the auricle.; Prominent and constricted ears.; ",
"cross_references": "MeSH; D004427.",
"definition": "An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. ",
"keywords": null
},
{
"identifier": "Rabin-Pappas syndrome.",
"acronym": "RAPAS.",
"accession": "DI-06563",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by severely impaired global development, intellectual disability, microcephaly, facial dysmorphism, and variable congenital anomalies affecting the skeletal, genitourinary, cardiac, and other organ systems. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Rabson-Mendenhall syndrome.",
"acronym": "RMS.",
"accession": "DI-02242",
"synonyms": "Mendenhall syndrome.; ",
"cross_references": "MedGen; C0271695.",
"definition": "Severe insulin resistance syndrome characterized by insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Radiohumeral fusions with other skeletal and craniofacial anomalies.",
"acronym": "RHFCA.",
"accession": "DI-03424",
"synonyms": "Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies.; ",
"cross_references": "MeSH; D013580.",
"definition": "A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Radio-Tartaglia syndrome.",
"acronym": "RATARS.",
"accession": "DI-06099",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, mild motor difficulties, impaired intellectual development, speech delay, craniofacial dysmorphism, and variable behavioral abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Radioulnar synostosis, non-syndromic.",
"acronym": "RUS.",
"accession": "DI-05849",
"synonyms": null,
"cross_references": "MeSH; D013580.",
"definition": "An autosomal dominant disease characterized by proximal fusion of the radius and ulna resulting in extremely limited pronation and supination of the forearm. There are two disease forms. Radioulnar synostosis type 1 is characterized by a proximal fusion between the radius and ulna, and the radial head is absent. Radioulnar synostosis type 2 is characterized by a fusion just distal to the proximal radial epiphysis, and congenital dislocation of the radial head. In radioulnar synostosis type 2 there is also a restriction of extension at the elbow. ",
"keywords": null
},
{
"identifier": "Radioulnar synostosis with amegakaryocytic thrombocytopenia 1.",
"acronym": "RUSAT1.",
"accession": "DI-02243",
"synonyms": "CTRUS.; Radio-ulnar synostosis with amegakaryocytic thrombocytopenia.; RUSAT.; Thrombocytopenia, congenital, with radioulnar synostosis.; ",
"cross_references": "MeSH; D013921.",
"definition": "The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation. ",
"keywords": null
},
{
"identifier": "Radioulnar synostosis with amegakaryocytic thrombocytopenia 2.",
"acronym": "RUSAT2.",
"accession": "DI-04632",
"synonyms": "Radioulnar synostosis and amegakaryocytic thrombocytopenia 2.; ",
"cross_references": "MeSH; D013921.",
"definition": "An autosomal dominant disease characterized by proximal fusion of the radius and ulna resulting in extremely limited pronation and supination of the forearm, and congenital thrombocytopenia that progresses to pancytopenia. ",
"keywords": null
},
{
"identifier": "Rafiq syndrome.",
"acronym": "RAFQS.",
"accession": "DI-03241",
"synonyms": "CDG2U.; MRT15.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Rahman syndrome.",
"acronym": "RMNS.",
"accession": "DI-05023",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant syndrome characterized by intellectual disability and overgrowth manifesting as increased birth length, height, weight, and/or head circumference. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Raine syndrome.",
"acronym": "RNS.",
"accession": "DI-02244",
"synonyms": "Lethal osteosclerotic bone dysplasia.; Osteomalacia, sclerosing, with cerebral calcification.; ",
"cross_references": "MeSH; D010026.",
"definition": "An autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome, although some patients survive into childhood. Clinical features include generalized increase in the density of all bones and a marked increase in the ossification of the skull, craniofacial dysplasia and microcephaly. ",
"keywords": null
},
{
"identifier": "Rajab interstitial lung disease with brain calcifications 1.",
"acronym": "RILDBC1.",
"accession": "DI-05269",
"synonyms": "Developmental delay, small stature, microcephaly, and brain calcifications.; NEDBLLA.; Neurodevelopmental disorder with brain, liver, and lung abnormalities.; Rajab syndrome.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive, lethal neurodevelopmental disorder characterized by multiple clinical manifestations including intrauterine growth restriction, failure to thrive, developmental delay, hypotonia, interstitial lung disease, and liver dysfunction. Brain imaging shows abnormal periventricular white matter, basal ganglia echogenicity, cerebral volume loss, incomplete closure of the Sylvian fissures, and normal myelination. ",
"keywords": null
},
{
"identifier": "Rajab interstitial lung disease with brain calcifications 2.",
"acronym": "RILDBC2.",
"accession": "DI-05916",
"synonyms": null,
"cross_references": "MeSH; D017563.",
"definition": "An autosomal recessive disorder characterized by interstitial lung disease, growth delay, hypotonia, liver disease, and brain abnormalities including diffuse, symmetrical brain calcifications and periventricular cysts. ",
"keywords": null
},
{
"identifier": "RAPADILINO syndrome.",
"acronym": "RAPADILINOS.",
"accession": "DI-02245",
"synonyms": null,
"cross_references": "MedGen; C1849453.",
"definition": "Disease characterized by radial and patellar aplasia or hypoplasia. ",
"keywords": null
},
{
"identifier": "Rapp-Hodgkin syndrome.",
"acronym": "RHS.",
"accession": "DI-00428",
"synonyms": "Anhidrotic ectodermal dysplasia with cleft lip/palate.; Ectodermal dysplasia, Rapp-Hodgkin type.; EDRH.; Rapp-Hodgkin ectodermal dysplasia.; ",
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the combination of anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The clinical syndrome is comprised of a characteristic facies (narrow nose and small mouth), wiry, slow- growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, dystrophic nails, and cleft lip/cleft palate. RHS inheritance is autosomal dominant. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "RAS-associated autoimmune leukoproliferative disorder.",
"acronym": "RALD.",
"accession": "DI-03381",
"synonyms": "ALPS4.; Autoimmune lymphoproliferative syndrome, type IV.; Autoimmune lymphoproliferative syndrome 4.; ",
"cross_references": "MeSH; D056735.",
"definition": "A disorder of apoptosis, characterized by chronic accumulation of non- malignant lymphocytes, defective lymphocyte apoptosis, and an increased risk for the development of hematologic malignancies. ",
"keywords": null
},
{
"identifier": "Rauch-Steindl syndrome.",
"acronym": "RAUST.",
"accession": "DI-06312",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by poor pre- and postnatal growth, facial dysmorphism, and variable developmental delay with delayed motor and speech acquisition and impaired intellectual. Other features may include hypotonia and behavioral abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Raynaud-Claes syndrome.",
"acronym": "MRXSRC.",
"accession": "DI-04808",
"synonyms": "MRX49.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked syndrome characterized by borderline to severe intellectual disability and impaired language development. Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}