{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=620&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=580&ordering=-synonyms","results":[{"identifier":"Bethlem myopathy 1B.","acronym":"BTHLM1B.","accession":"DI-06833","synonyms":null,"cross_references":"MeSH; D009136.","definition":"A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. Inheritance can be autosomal dominant or autosomal recessive. ","keywords":"KW-0912:Congenital muscular dystrophy.; "},{"identifier":"Bethlem myopathy 1C.","acronym":"BTHLM1C.","accession":"DI-06834","synonyms":null,"cross_references":"MeSH; D009136.","definition":"A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM1C inheritance is autosomal dominant. ","keywords":"KW-0912:Congenital muscular dystrophy.; "},{"identifier":"Coffin-Siris syndrome 6.","acronym":"CSS6.","accession":"DI-05158","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS6 inheritance is autosomal dominant. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Cataract 42.","acronym":"CTRCT42.","accession":"DI-04171","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 50 with or without glaucoma.","acronym":"CTRCT50.","accession":"DI-06610","synonyms":null,"cross_references":"MeSH; D002386.","definition":"A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT50 is an autosomal dominant form characterized by early onset. Affected individuals may also exhibit high-tension glaucoma and variable anterior segment defects. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 39, multiple types.","acronym":"CTRCT39.","accession":"DI-03806","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT39 includes lamellar, anterior polar, and complete cataracts. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Acrodermatitis enteropathica, zinc-deficiency type.","acronym":"AEZ.","accession":"DI-00027","synonyms":null,"cross_references":"MeSH; D000169.","definition":"A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune- system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. ","keywords":null},{"identifier":"Bile acid conjugation defect 1.","acronym":"BACD1.","accession":"DI-06059","synonyms":null,"cross_references":"MeSH; D008661.","definition":"An autosomal recessive metabolic disorder characterized by reduced biliary secretion of conjugated bile acids, fat malabsorption, and fat-soluble vitamin deficiency. Clinical manifestations include rickets with variable growth failure due to vitamin D deficiency, and coagulopathy due to deficiency of vitamin K-dependent clotting factors. Additional variable features include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids. ","keywords":null},{"identifier":"Bile acid malabsorption, primary, 1.","acronym":"PBAM1.","accession":"DI-02198","synonyms":null,"cross_references":"MeSH; D045602.","definition":"An autosomal recessive intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids. ","keywords":null},{"identifier":"Bile acid malabsorption, primary, 2.","acronym":"PBAM2.","accession":"DI-06199","synonyms":null,"cross_references":"MeSH; D008286.","definition":"An autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease. ","keywords":null},{"identifier":"Spondyloepiphyseal dysplasia congenital type.","acronym":"SEDC.","accession":"DI-02333","synonyms":null,"cross_references":"MedGen; C2745959.","definition":"Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems. ","keywords":null},{"identifier":"Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism.","acronym":"CDIDHH.","accession":"DI-06352","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by delayed motor development, ataxia with cerebellar hypoplasia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed puberty with congenital hypogonadotropic hypogonadism. ","keywords":"KW-0991:Intellectual disability.; KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Aicardi-Goutieres syndrome 7.","acronym":"AGS7.","accession":"DI-04126","synonyms":null,"cross_references":"MeSH; D020274.","definition":"A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ","keywords":"KW-0948:Aicardi-Goutieres syndrome.; "},{"identifier":"Chronic atrial and intestinal dysrhythmia.","acronym":"CAID.","accession":"DI-04314","synonyms":null,"cross_references":"MeSH; D012804.","definition":"A disease characterized by dysregulation of the cardiac sinus node resulting in sick sinus syndrome, in association with chronic intestinal pseudo-obstruction, a disorder of gastrointestinal motility in which intestinal obstruction occurs in the absence of a mechanical obstacle. ","keywords":null},{"identifier":"Angioedema, hereditary, 4.","acronym":"HAE4.","accession":"DI-06124","synonyms":null,"cross_references":"MeSH; D054179.","definition":"A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE4 is an autosomal dominant form with incomplete penetrance, variable expressivity, and female predominance. ","keywords":null},{"identifier":"Birt-Hogg-Dube syndrome 2.","acronym":"BHD2.","accession":"DI-06731","synonyms":null,"cross_references":"MeSH; D058249.","definition":"A form of Birt-Hogg-Dube syndrome, a rare genodermatosis usually manifesting in adulthood and characterized by multiple fibrofolliculomas, trichodiscomas, and acrochordons. Patients with this syndrome have an increased susceptibility to develop renal cell carcinoma, lung cysts, and spontaneous pneumothorax. BHD2 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Angioedema, hereditary, 5.","acronym":"HAE5.","accession":"DI-06125","synonyms":null,"cross_references":"MeSH; D054179.","definition":"A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE5 is an autosomal dominant form characterized by onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life. ","keywords":null},{"identifier":"Brugada syndrome 6.","acronym":"BRGDA6.","accession":"DI-02501","synonyms":null,"cross_references":"MeSH; D053840.","definition":"A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ","keywords":"KW-0992:Brugada syndrome.; "},{"identifier":"Angioedema, hereditary, 6.","acronym":"HAE6.","accession":"DI-06126","synonyms":null,"cross_references":"MeSH; D054179.","definition":"A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE6 is an autosomal dominant form with onset in adulthood. ","keywords":null},{"identifier":"Corneal dystrophy, posterior polymorphous, 4.","acronym":"PPCD4.","accession":"DI-05267","synonyms":null,"cross_references":"MeSH; D003317.","definition":"A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. In severe cases, corneal endothelial failure may occur and corneal transplantation is required to restore vision. Secondary complications are common and include corneal edema, glaucoma, iris adherence to the cornea, and corectopia. PPCD4 transmission pattern is consistent with autosomal dominant inheritance. ","keywords":"KW-1212:Corneal dystrophy.; "}]}