Human Disease List
GET /api/human_diseases/?format=api&offset=5580&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5600&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5560&ordering=-identifier", "results": [ { "identifier": "Clark-Baraitser syndrome.", "acronym": "CLABARS.", "accession": "DI-05132", "synonyms": "MRD49.; ", "cross_references": "MeSH; D008607.", "definition": "An autosomal dominant disease characterized by intellectual disability, delayed psychomotor development, behavioral abnormalities, variable dysmorphic facial features, tall stature, obesity, and macrocephaly. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "CLAPO syndrome.", "acronym": "CLAPO.", "accession": "DI-05367", "synonyms": "Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth.; Lopez-Gutierrez syndrome.; ", "cross_references": "MeSH; D000015.", "definition": "A syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs and partial or generalised overgrowth. ", "keywords": null }, { "identifier": "CK syndrome.", "acronym": "CKS.", "accession": "DI-03007", "synonyms": null, "cross_references": "MeSH; D038901.", "definition": "An X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Citrullinemia 2.", "acronym": "CTLN2.", "accession": "DI-00310", "synonyms": "Adult-onset citrullinemia type 2.; Citrin deficiency.; Citrullinemia type II.; ", "cross_references": "MeSH; D056806.", "definition": "A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. ", "keywords": null }, { "identifier": "Citrullinemia 1.", "acronym": "CTLN1.", "accession": "DI-00309", "synonyms": "Argininosuccinate synthetase deficiency.; ASS deficiency.; Citrullinemia type I.; Citrullinuria.; Classic citrullinemia.; ", "cross_references": "MeSH; D020159.", "definition": "The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood. ", "keywords": null }, { "identifier": "Cirrhosis.", "acronym": "CIRRH.", "accession": "DI-01454", "synonyms": "Cryptogenic cirrhosis.; ", "cross_references": "MedGen; C1876166.", "definition": "A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension. ", "keywords": null }, { "identifier": "CIMDAG syndrome.", "acronym": "CIMDAG.", "accession": "DI-06081", "synonyms": "Cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation.; ", "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant syndrome characterized by global developmental delay, severely impaired intellectual development, poor or absent speech, microcephaly, growth retardation, poor motor skills with inability to walk, hypotonia and spasticity, and cataracts. Cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination are apparent on brain imaging. Affected individuals show hematologic abnormalities mostly consistent with congenital dyserythropoietic anemia. ", "keywords": "KW-0898:Cataract.; KW-0991:Intellectual disability.; KW-1055:Congenital dyserythropoietic anemia.; " }, { "identifier": "Ciliary dyskinesia, primary, 9.", "acronym": "CILD9.", "accession": "DI-00933", "synonyms": "ICS9.; Immotile cilia syndrome 9.; Primary ciliary dyskinesia 9 with or without situs inversus.; ", "cross_references": "MeSH; D007619.", "definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ", "keywords": "KW-1012:Kartagener syndrome.; " }, { "identifier": "Ciliary dyskinesia, primary, 7.", "acronym": "CILD7.", "accession": "DI-00932", "synonyms": "ICS7.; Immotile cilia syndrome 7.; ", "cross_references": "MeSH; D007619.", "definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ", "keywords": "KW-0990:Primary ciliary dyskinesia.; " }, { "identifier": "Ciliary dyskinesia, primary, 6.", "acronym": "CILD6.", "accession": "DI-00931", "synonyms": "ICS6.; Immotile cilia syndrome 6.; ", "cross_references": "MeSH; D007619.", "definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ", "keywords": "KW-0990:Primary ciliary dyskinesia.; " }, { "identifier": "Ciliary dyskinesia, primary, 53.", "acronym": "CILD53.", "accession": "DI-06809", "synonyms": null, "cross_references": "MeSH; D007619.", "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD53 is an autosomal recessive form characterized by randomization of the left-right body asymmetry and respiratory symptoms. ", "keywords": "KW-1012:Kartagener syndrome.; " }, { "identifier": "Ciliary dyskinesia, primary, 52.", "acronym": "CILD52.", "accession": "DI-06788", "synonyms": "Ciliary dyskinesia, primary, 52, with or without situs inversus.; ", "cross_references": "MeSH; D002925.", "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD52 is an autosomal recessive form characterized by laterality defects, and mild respiratory symptoms. ", "keywords": "KW-0990:Primary ciliary dyskinesia.; " }, { "identifier": "Ciliary dyskinesia, primary, 51.", "acronym": "CILD51.", "accession": "DI-06701", "synonyms": null, "cross_references": "MeSH; D002925.", "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD51 is an autosomal recessive form characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced progressive motility. Affected individuals have recurrent upper and lower respiratory infections, and some exhibit dextrocardia and/or situs inversus. ", "keywords": "KW-0990:Primary ciliary dyskinesia.; " }, { "identifier": "Ciliary dyskinesia, primary, 50.", "acronym": "CILD50.", "accession": "DI-06669", "synonyms": null, "cross_references": "MeSH; D002925.", "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD50 is an autosomal recessive form characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella. ", "keywords": "KW-0990:Primary ciliary dyskinesia.; " }, { "identifier": "Ciliary dyskinesia, primary, 5.", "acronym": "CILD5.", "accession": "DI-03560", "synonyms": "ICS5.; Immotile cilia syndrome 5.; Primary ciliary dyskinesia 5 with or without situs inversus.; ", "cross_references": "MeSH; D007619.", "definition": "An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus. ", "keywords": "KW-1012:Kartagener syndrome.; " }, { "identifier": "Ciliary dyskinesia, primary, 49, without situs inversus.", "acronym": "CILD49.", "accession": "DI-06590", "synonyms": null, "cross_references": "MeSH; D002925.", "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD49 is an autosomal recessive form without situs abnormalities. Affected males also show infertility due to defective flagellar morphology and function. ", "keywords": "KW-0990:Primary ciliary dyskinesia.; " }, { "identifier": "Ciliary dyskinesia, primary, 48, without situs inversus.", "acronym": "CILD48.", "accession": "DI-06504", "synonyms": null, "cross_references": "MeSH; D002925.", "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD48 is an autosomal recessive form. No situs abnormalities have been observed. ", "keywords": "KW-0990:Primary ciliary dyskinesia.; " }, { "identifier": "Ciliary dyskinesia, primary, 47, and lissencephaly.", "acronym": "CILD47.", "accession": "DI-06185", "synonyms": null, "cross_references": "MeSH; D002925.", "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD47 is an autosomal recessive form characterized by onset soon after birth or in early childhood. Affected individuals also have neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. No situs abnormalities have been observed. ", "keywords": "KW-0451:Lissencephaly.; KW-0990:Primary ciliary dyskinesia.; " }, { "identifier": "Ciliary dyskinesia, primary, 46.", "acronym": "CILD46.", "accession": "DI-06168", "synonyms": null, "cross_references": "MeSH; D002925.", "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD46 is an autosomal recessive form. No situs abnormalities have been observed. ", "keywords": "KW-0990:Primary ciliary dyskinesia.; " }, { "identifier": "Ciliary dyskinesia, primary, 45.", "acronym": "CILD45.", "accession": "DI-05780", "synonyms": "Ciliary dyskinesia, primary, 45, without situs inversus.; ", "cross_references": "MeSH; D002925.", "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD45 is an autosomal recessive form characterized by onset of symptoms in infancy or early childhood. Male patients have infertility due to immotile sperm. ", "keywords": "KW-0990:Primary ciliary dyskinesia.; " } ] }