{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1180&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1140&ordering=synonyms","results":[{"identifier":"Hyperlipoproteinemia 1.","acronym":"HLPP1.","accession":"DI-01911","synonyms":"Chylomicronemia, familial.; Hyperchylomicronemia, familial.; Hyperlipemia, essential familial.; Hyperlipemia, idiopathic, Burger-Grutz type.; Hyperlipoproteinemia, type IA.; Lipase D deficiency.; LIPD deficiency.; Lipoprotein lipase deficiency.; LPL deficiency.; ","cross_references":"MeSH; D006951.","definition":"An autosomal recessive metabolic disorder characterized by defective breakdown of dietary fats, impaired clearance of chylomicrons from plasma causing the plasma to have a milky appearance, and severe hypertriglyceridemia. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis. ","keywords":null},{"identifier":"Palmoplantar carcinoma, multiple self-healing.","acronym":"MSPC.","accession":"DI-03762","synonyms":"CIDED.; Corneal intraepithelial dyskeratosis and ectodermal dysplasia.; ","cross_references":"MeSH; D004476.","definition":"An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ichthyosis, congenital, autosomal recessive 2.","acronym":"ARCI2.","accession":"DI-00822","synonyms":"CIE.; Ichthyosiform erythroderma, congenital.; Ichthyosiform erythroderma Brocq congenital non-bullous form.; IECN1.; NCIE1.; Non-bullous congenital ichthyosiform erythroderma type 1.; Self-healing collodion baby.; ","cross_references":"MeSH; D017490.","definition":"A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked.","acronym":"IPOX.","accession":"DI-02438","synonyms":"CIIP.; CIIPX.; CIIP X-linked.; Congenital idiopathic intestinal pseudoobstruction.; ","cross_references":"MeSH; D007418.","definition":"A disease characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion. ","keywords":null},{"identifier":"Ciliary dyskinesia, primary, 32.","acronym":"CILD32.","accession":"DI-04489","synonyms":"Ciliary dyskinesia, primary, 32, 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. ","keywords":"KW-0990:Primary ciliary dyskinesia.; "},{"identifier":"Ciliary dyskinesia, primary, 33.","acronym":"CILD33.","accession":"DI-04621","synonyms":"Ciliary dyskinesia, primary, 33, without situs inversus.; ","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. CILD33 inheritance is autosomal recessive. ","keywords":"KW-0990:Primary ciliary dyskinesia.; "},{"identifier":"Ciliary dyskinesia, primary, 35.","acronym":"CILD35.","accession":"DI-04827","synonyms":"Ciliary dyskinesia, primary, 35 with or without situs inversus.; Primary ciliary dyskinesia 35 with or without situs inversus.; ","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. CILD35 inheritance is autosomal recessive. ","keywords":"KW-1012:Kartagener syndrome.; "},{"identifier":"Ciliary dyskinesia, primary, 36, X-linked.","acronym":"CILD36.","accession":"DI-04940","synonyms":"Ciliary dyskinesia, primary, 36, with or without situs inversus.; ","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. CILD36 inheritance is X-linked recessive. About half of CILD36 patients have laterality defects due to ciliary dysfunction at the embryonic node. ","keywords":"KW-1012:Kartagener syndrome.; "},{"identifier":"Ciliary dyskinesia, primary, 37.","acronym":"CILD37.","accession":"DI-05029","synonyms":"Ciliary dyskinesia, primary, 37, with or without situs inversus.; ","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. CILD37 inheritance is autosomal recessive. ","keywords":"KW-1012:Kartagener syndrome.; "},{"identifier":"Ciliary dyskinesia, primary, 38.","acronym":"CILD38.","accession":"DI-05283","synonyms":"Ciliary dyskinesia, primary, 38, with or without situs inversus.; ","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. CILD38 inheritance is autosomal recessive. ","keywords":"KW-1012:Kartagener syndrome.; "},{"identifier":"Ciliary dyskinesia, primary, 39.","acronym":"CILD39.","accession":"DI-05437","synonyms":"Ciliary dyskinesia, primary, 39, with or without situs inversus.; ","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. CILD39 inheritance is autosomal recessive. ","keywords":"KW-1012:Kartagener syndrome.; "},{"identifier":"Ciliary dyskinesia, primary, 3.","acronym":"CILD3.","accession":"DI-00930","synonyms":"Ciliary dyskinesia, primary, 3, with or without situs inversus.; ICS3.; Immotile cilia syndrome 3.; ","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, 40.","acronym":"CILD40.","accession":"DI-05451","synonyms":"Ciliary dyskinesia, primary, 40, with or without situs inversus.; ","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. CILD40 inheritance is autosomal recessive. ","keywords":"KW-1012:Kartagener syndrome.; "},{"identifier":"Ciliary dyskinesia, primary, 42.","acronym":"CILD42.","accession":"DI-05714","synonyms":"Ciliary dyskinesia, primary, 42, 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. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. CILD42 inheritance is autosomal recessive. ","keywords":"KW-0990:Primary ciliary dyskinesia.; "},{"identifier":"Ciliary dyskinesia, primary, 43.","acronym":"CILD43.","accession":"DI-05715","synonyms":"Ciliary dyskinesia, primary, 43 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. Patients with this disorder also develop significant obstructive hydrocephalus. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. CILD43 inheritance is autosomal dominant. ","keywords":"KW-0990:Primary ciliary dyskinesia.; "},{"identifier":"Ciliary dyskinesia, primary, 44.","acronym":"CILD44.","accession":"DI-05765","synonyms":"Ciliary dyskinesia, primary, 44 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. CILD44 inheritance is autosomal recessive. ","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.; "},{"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":"Skin creases, congenital symmetric circumferential, 1.","acronym":"CSCSC1.","accession":"DI-04628","synonyms":"Circumferential skin creases, Kunze type.; Circumferential skin creases Kunze type.; CSC-KT.; Michelin tire baby syndrome.; Multiple benign ring-shaped skin creases of limbs.; Skin creases, multiple benign ring-shaped, of limbs.; ","cross_references":"MeSH; D012868.","definition":"An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. ","keywords":null},{"identifier":"Perching syndrome.","acronym":"PERCHING.","accession":"DI-04779","synonyms":"CISS3.; Crisponi/Cold-induced sweating syndrome 3.; ","cross_references":"MeSH; D006945.","definition":"An autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating. ","keywords":null}]}