{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5020&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4980&ordering=synonyms","results":[{"identifier":"Cardiomyopathy, familial hypertrophic, 11.","acronym":"CMH11.","accession":"DI-00241","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Digital arthropathy-brachydactyly, familial.","acronym":"FDAB.","accession":"DI-03486","synonyms":null,"cross_references":"MeSH; D059327.","definition":"A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected. ","keywords":null},{"identifier":"Cardiomyopathy, familial hypertrophic, 1.","acronym":"CMH1.","accession":"DI-00233","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Distal myopathy with anterior tibial onset.","acronym":"DMAT.","accession":"DI-01494","synonyms":null,"cross_references":"MedGen; C1847532.","definition":"Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive. ","keywords":null},{"identifier":"DMGDH deficiency.","acronym":"DMGDHD.","accession":"DI-01497","synonyms":null,"cross_references":"MedGen; C1853892.","definition":"Disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine. ","keywords":null},{"identifier":"Dominant nonimmune chronic idiopathic neutropenia of adults.","acronym":"NI-CINA.","accession":"DI-01499","synonyms":null,"cross_references":"MedGen; C1842930.","definition":"Relatively mild form of neutropenia diagnosed in adults, but predisposing to leukemia in a subset of patients. ","keywords":null},{"identifier":"Dominantly inherited venous malformations.","acronym":"VMCM.","accession":"DI-01500","synonyms":null,"cross_references":"MedGen; C1838437.","definition":"An error of vascular morphogenesis characterized by dilated, serpiginous channels. ","keywords":null},{"identifier":"Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.","acronym":"DCWHKTA.","accession":"DI-04267","synonyms":null,"cross_references":"MeSH; D007645.","definition":"A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia. ","keywords":"KW-0122:Cardiomyopathy.; KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Dowling-Degos disease 2.","acronym":"DDD2.","accession":"DI-03821","synonyms":null,"cross_references":"MeSH; D017495.","definition":"An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. ","keywords":null},{"identifier":"Dowling-Degos disease 4.","acronym":"DDD4.","accession":"DI-04044","synonyms":null,"cross_references":"MeSH; D017495.","definition":"A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas. ","keywords":null},{"identifier":"Cardiomyopathy, dilated, 2J.","acronym":"CMD2J.","accession":"DI-06798","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2J is an autosomal recessive form characterized by onset of heart failure within the first year of life. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Duane retraction syndrome 2.","acronym":"DURS2.","accession":"DI-01506","synonyms":null,"cross_references":"MeSH; D004370.","definition":"A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. ","keywords":null},{"identifier":"Duane retraction syndrome 3 with or without deafness.","acronym":"DURS3.","accession":"DI-04764","synonyms":null,"cross_references":"MeSH; D004370.","definition":"A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. Some DURS3 patients manifest sensorineural hearing loss. ","keywords":null},{"identifier":"Dubin-Johnson syndrome.","acronym":"DJS.","accession":"DI-01508","synonyms":null,"cross_references":"MedGen; C0022350.","definition":"Autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function. ","keywords":null},{"identifier":"Duchenne muscular dystrophy.","acronym":"DMD.","accession":"DI-01509","synonyms":null,"cross_references":"MedGen; C0013264.","definition":"Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. ","keywords":null},{"identifier":"Dworschak-Punetha neurodevelopmental syndrome.","acronym":"DWOPNED.","accession":"DI-06469","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay, mildly impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder and hyperactivity. Additional variable additional features include optic disk hypoplasia, ptosis, hypo- or hyperpigmented skin lesions, non- specific facial dysmorphism, and abnormalities of the ventricles or corpus callosum seen on brain imaging. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Dyggve-Melchior-Clausen syndrome.","acronym":"DMC.","accession":"DI-00406","synonyms":null,"cross_references":"MeSH; D001848.","definition":"A rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Dyschromatosis universalis hereditaria 1.","acronym":"DUH1.","accession":"DI-05519","synonyms":null,"cross_references":"MeSH; D010859.","definition":"A form of dyschromatosis universalis, an autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. ","keywords":null},{"identifier":"Dyskeratosis congenita, autosomal dominant, 3.","acronym":"DKCA3.","accession":"DI-03165","synonyms":null,"cross_references":"MeSH; D019871.","definition":"A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ","keywords":"KW-1011:Dyskeratosis congenita.; "},{"identifier":"Dyskeratosis congenita, autosomal dominant, 4.","acronym":"DKCA4.","accession":"DI-03889","synonyms":null,"cross_references":"MeSH; D019871.","definition":"A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ","keywords":"KW-1011:Dyskeratosis congenita.; "}]}