Human Disease List
GET /api/human_diseases/?format=api&offset=2920&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2940&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2900&ordering=-identifier", "results": [ { "identifier": "Luscan-Lumish syndrome.", "acronym": "LLS.", "accession": "DI-04661", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant syndrome with a variable phenotype. Clinical features include macrocephaly, distinctive facial appearance, postnatal overgrowth, various degrees of learning difficulties, autism spectrum disorder, and intellectual disability. ", "keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; " }, { "identifier": "Luo-Schoch-Yamamoto syndrome.", "acronym": "LUSYAM.", "accession": "DI-06178", "synonyms": null, "cross_references": "MeSH; D012640.", "definition": "An autosomal dominant disorder characterized by intrauterine growth retardation, severe intellectual disability, behavioral problems, early-onset seizures, feeding difficulties, and dysmorphic features. White matter abnormalities and delayed myelination are observed on brain imaging. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Lung disease, immunodeficiency, and chromosome breakage syndrome.", "acronym": "LICS.", "accession": "DI-04908", "synonyms": null, "cross_references": "MeSH; D008171.", "definition": "An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features. ", "keywords": null }, { "identifier": "Lung cancer.", "acronym": "LNCR.", "accession": "DI-02205", "synonyms": "Adenocarcinoma of lung.; Alveolar cell carcinoma.; Nonsmall cell lung cancer.; ", "cross_references": "MeSH; D008175.", "definition": "A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. ", "keywords": null }, { "identifier": "Lui-Jee-Baron syndrome.", "acronym": "LJBS.", "accession": "DI-06805", "synonyms": null, "cross_references": "MeSH; D001848.", "definition": "An X-linked disorder characterized by prenatal onset, generalized overgrowth, extreme tall stature, enlarged liver and spleen, macrocephaly, dysmorphic features, and normal development. Hemizygous males are more severely affected than heterozygous females. ", "keywords": null }, { "identifier": "Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis.", "acronym": "LMWPHN.", "accession": "DI-00689", "synonyms": null, "cross_references": "MeSH; D015499.", "definition": "An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. LMWPHN is a slowly progressive disorder. Patients tend to have hypercalciuric nephrocalcinosis without rickets or renal failure. ", "keywords": null }, { "identifier": "Lower urinary tract obstruction, congenital.", "acronym": "LUTO.", "accession": "DI-05673", "synonyms": null, "cross_references": "MeSH; D014570.", "definition": "A disorder characterized by urinary bladder outflow obstruction, which can represent an anatomical blockage or a functional obstruction. The most common anatomical causes are posterior urethral valves at the level of the prostatic urethra, a lesion unique to males. Less common are anterior urethral valves, also called urethral atresia, that can occur in either sex. LUTO is an autosomal dominant disease with variable expression. ", "keywords": null }, { "identifier": "Lowe oculocerebrorenal syndrome.", "acronym": "OCRL.", "accession": "DI-01916", "synonyms": "Lowe syndrome.; ", "cross_references": "MedGen; C2713392.", "definition": "X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, intellectual disability, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination. ", "keywords": "KW-1186:Ciliopathy.; " }, { "identifier": "Lopes-Maciel-Rodan syndrome.", "acronym": "LOMARS.", "accession": "DI-04988", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive neurodevelopmental disorder characterized by developmental regression in infancy, delayed psychomotor development, severe intellectual disability, and cerebral and cerebellar atrophy. Additional features include swallowing problems, dystonia, bradykinesia, and continuous manual stereotypies without chorea. Some patients manifest seizures. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Loose anagen hair syndrome.", "acronym": "LAHS.", "accession": "DI-01915", "synonyms": null, "cross_references": "MedGen; C0406468.", "definition": "In LAHS, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color and hair shafts of reduced caliber, and an early age of onset are features. Usually the hairs are not fragile and there are no areas of breakage. ", "keywords": null }, { "identifier": "Long QT syndrome 9.", "acronym": "LQT9.", "accession": "DI-00686", "synonyms": null, "cross_references": "MeSH; D008133.", "definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ", "keywords": "KW-0454:Long QT syndrome.; " }, { "identifier": "Long QT syndrome 8.", "acronym": "LQT8.", "accession": "DI-05582", "synonyms": null, "cross_references": "MeSH; D008133.", "definition": "A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. LQT8 transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. ", "keywords": "KW-0454:Long QT syndrome.; " }, { "identifier": "Long QT syndrome 7.", "acronym": "LQT7.", "accession": "DI-00685", "synonyms": "Andersen cardiodysrhythmic periodic paralysis.; Andersen syndrome.; Andersen-Tawil syndrome.; ATS.; Periodic paralysis, potassium-sensitive cardiodysrhythmic type.; ", "cross_references": "MeSH; D050030.", "definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features. ", "keywords": "KW-0454:Long QT syndrome.; " }, { "identifier": "Long QT syndrome 6.", "acronym": "LQT6.", "accession": "DI-00684", "synonyms": "Long QT syndrome 3/6.; LQT3/6.; Susceptibility to acquired Long QT syndrome 6.; ", "cross_references": "MeSH; D008133.", "definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ", "keywords": "KW-0454:Long QT syndrome.; " }, { "identifier": "Long QT syndrome 5.", "acronym": "LQT5.", "accession": "DI-00683", "synonyms": "Long QT syndrome 2/5.; LQT2/5.; Susceptibility to acquired Long QT syndrome 5.; ", "cross_references": "MeSH; D008133.", "definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ", "keywords": "KW-0454:Long QT syndrome.; " }, { "identifier": "Long QT syndrome 4.", "acronym": "LQT4.", "accession": "DI-00682", "synonyms": "Sick sinus syndrome with bradycardia.; ", "cross_references": "MeSH; D008133.", "definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature. ", "keywords": "KW-0454:Long QT syndrome.; " }, { "identifier": "Long QT syndrome 3.", "acronym": "LQT3.", "accession": "DI-00681", "synonyms": null, "cross_references": "MeSH; D008133.", "definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ", "keywords": "KW-0454:Long QT syndrome.; " }, { "identifier": "Long QT syndrome 2.", "acronym": "LQT2.", "accession": "DI-00680", "synonyms": "Long QT syndrome 1/2.; LONG QT syndrome 2/3.; LONG QT syndrome 2/5.; LONG QT syndrome 2/9.; LQT1/2.; LQT2/3.; LQT2/5.; LQT2/9.; Susceptibility to acquired Long QT syndrome 2.; ", "cross_references": "MeSH; D008133.", "definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2. ", "keywords": "KW-0454:Long QT syndrome.; " }, { "identifier": "Long QT syndrome 16.", "acronym": "LQT16.", "accession": "DI-05766", "synonyms": null, "cross_references": "MeSH; D008133.", "definition": "An autosomal dominant form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ", "keywords": "KW-0454:Long QT syndrome.; " }, { "identifier": "Long QT syndrome 15.", "acronym": "LQT15.", "accession": "DI-04328", "synonyms": null, "cross_references": "MeSH; D008133.", "definition": "A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ", "keywords": "KW-0454:Long QT syndrome.; " } ] }