Human Disease List
GET /api/human_diseases/?format=api&offset=4720&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4740&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4700&ordering=-identifier", "results": [ { "identifier": "Dyskeratosis congenita, autosomal recessive, 6.", "acronym": "DKCB6.", "accession": "DI-04424", "synonyms": null, "cross_references": "MeSH; D019871.", "definition": "A form of dyskeratosis congenita, 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 recessive, 5.", "acronym": "DKCB5.", "accession": "DI-03755", "synonyms": null, "cross_references": "MeSH; D019871.", "definition": "A form of dyskeratosis congenita, 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. DKCB5 is characterized by onset of bone marrow failure and immunodeficiency in early childhood. Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome. ", "keywords": "KW-1011:Dyskeratosis congenita.; " }, { "identifier": "Dyskeratosis congenita, autosomal recessive, 4.", "acronym": "DKCB4.", "accession": "DI-03166", "synonyms": "Dyskeratosis congenita Scoggins type.; ", "cross_references": "MeSH; D019871.", "definition": "A severe form of dyskeratosis congenita, 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 recessive, 3.", "acronym": "DKCB3.", "accession": "DI-03168", "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 recessive, 2.", "acronym": "DKCB2.", "accession": "DI-03167", "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 recessive, 1.", "acronym": "DKCB1.", "accession": "DI-00408", "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, 6.", "acronym": "DKCA6.", "accession": "DI-04521", "synonyms": null, "cross_references": "MeSH; D019871.", "definition": "A form of dyskeratosis congenita, 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, 5.", "acronym": "DKCA5.", "accession": "DI-00998", "synonyms": "Exudative retinopathy with bone marrow failure.; Revesz Debuse syndrome.; Revesz syndrome.; ", "cross_references": "MeSH; D019871.", "definition": "A disease characterized by bone marrow hypoplasia, nail dystrophy, fine sparse hair, fine reticulate skin pigmentation, oral leukoplakia, bilateral exudative retinopathy, cerebellar hypoplasia, and growth retardation. ", "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.; " }, { "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, 2.", "acronym": "DKCA2.", "accession": "DI-00407", "synonyms": "Dyskeratosis congenita Scoggins type.; ", "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": "Dysfibrinogenemia, congenital.", "acronym": "DYSFIBRIN.", "accession": "DI-04218", "synonyms": "Hypodysfibrinogenemia, congenital.; ", "cross_references": "MeSH; D025861.", "definition": "A disorder characterized by qualitative abnormalities (dysfibrinogenemia) of the circulating fibrinogen. Affected individuals are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both. In some cases, dysfibrinogenemia is associated with low circulating fibrinogen levels (hypodysfibrinogenemia). ", "keywords": null }, { "identifier": "Dyschromatosis universalis hereditaria 3.", "acronym": "DUH3.", "accession": "DI-03880", "synonyms": "DSH.; Dyschromatosis symmetrica hereditaria.; Reticulate acropigmentation of Dohi.; Symmetric dyschromatosis of the extremities.; ", "cross_references": "MeSH; D010859.", "definition": "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": "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": "Dyschromatosis symmetrica hereditaria.", "acronym": "DSH.", "accession": "DI-01510", "synonyms": "DSH1.; Dyschromatosis symmetrica hereditaria 1.; Reticulate acropigmentation of Dohi.; Symmetric dyschromatosis of the extremities.; ", "cross_references": "MeSH; D010859.", "definition": "An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal parts of the hands and feet, that appear in infancy or early childhood. ", "keywords": null }, { "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": "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": "Dursun syndrome.", "acronym": "DURSS.", "accession": "DI-02930", "synonyms": "Pulmonary arterial hypertension leukopenia and atrial septal defect.; ", "cross_references": "MeSH; D009503.", "definition": "A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia. ", "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": "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 } ] }