{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1200&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1160&ordering=-identifier","results":[{"identifier":"Pulmonary surfactant metabolism dysfunction 2.","acronym":"SMDP2.","accession":"DI-00961","synonyms":"Congenital pulmonary alveolar proteinosis 2.; Desquamative interstitial pneumonitis due to surfactant protein C deficiency.; Interstitial lung disease due to surfactant protein C deficiency.; PAP.; ","cross_references":"MeSH; D011649.","definition":"A rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. ","keywords":null},{"identifier":"Pulmonary surfactant metabolism dysfunction 1.","acronym":"SMDP1.","accession":"DI-00960","synonyms":"Congenital pulmonary alveolar proteinosis 1.; Interstitial lung disease due to surfactant protein B deficiency.; Interstitial lung disease non-specific due to surfactant protein B deficiency.; PAP.; ","cross_references":"MeSH; D011649.","definition":"A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. ","keywords":null},{"identifier":"Pulmonary hypertension, primary, 6.","acronym":"PPH6.","accession":"DI-06877","synonyms":null,"cross_references":"MeSH; D006976.","definition":"A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH6 is an autosomal recessive form. ","keywords":null},{"identifier":"Pulmonary hypertension, primary, 5.","acronym":"PPH5.","accession":"DI-06437","synonyms":null,"cross_references":"MeSH; D006976.","definition":"A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH5 is an autosomal recessive form characterized by the onset in infancy. Death in early childhood is common. ","keywords":null},{"identifier":"Pulmonary hypertension, primary, 4.","acronym":"PPH4.","accession":"DI-03837","synonyms":null,"cross_references":"MeSH; D006976.","definition":"A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. ","keywords":null},{"identifier":"Pulmonary hypertension, primary, 3.","acronym":"PPH3.","accession":"DI-03836","synonyms":null,"cross_references":"MeSH; D006976.","definition":"A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. ","keywords":null},{"identifier":"Pulmonary hypertension, primary, 2.","acronym":"PPH2.","accession":"DI-03835","synonyms":null,"cross_references":"MeSH; D006976.","definition":"A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. ","keywords":null},{"identifier":"Pulmonary hypertension, primary, 1.","acronym":"PPH1.","accession":"DI-00942","synonyms":null,"cross_references":"MeSH; D006976.","definition":"A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. ","keywords":null},{"identifier":"Pulmonary hypertension, neonatal.","acronym":"PHN.","accession":"DI-03858","synonyms":null,"cross_references":"MeSH; D006976.","definition":"A disease characterized by elevated pulmonary artery pressure. Pulmonary hypertension in the neonate is associated with multiple underlying problems such as respiratory distress syndrome, meconium aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary dysplasia, sepsis, or congenital heart disease. ","keywords":null},{"identifier":"Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 9.","acronym":"PFBMFT9.","accession":"DI-06698","synonyms":"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9.; ","cross_references":"MeSH; D011658.","definition":"An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT9 is characterized by the development of pulmonary fibrosis or hematologic abnormalities in adulthood. Liver disease may also be present. There is incomplete penetrance and evidence of genetic anticipation. ","keywords":null},{"identifier":"Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 8.","acronym":"PFBMFT8.","accession":"DI-06678","synonyms":null,"cross_references":"MeSH; D011658.","definition":"An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT8 is characterized by the onset of progressive pulmonary fibrosis in adulthood, signs of bone marrow failure, such as thrombocytopenia, liver dysfunction, and features of dyskeratosis congenita, including premature graying of the hair, in some affected individuals. ","keywords":null},{"identifier":"Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 7.","acronym":"PFBMFT7.","accession":"DI-06677","synonyms":null,"cross_references":"MeSH; D011658.","definition":"An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT7 patients manifest anemia, lymphopenia, liver involvement with portal hypertension and hepatopulmonary syndrome, premature graying of the hair, nail dystrophy, and predisposition to squamous cell cancers or myelodysplasia. ","keywords":null},{"identifier":"Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 6.","acronym":"PFBMFT6.","accession":"DI-06355","synonyms":null,"cross_references":"MeSH; D011658.","definition":"An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. ","keywords":null},{"identifier":"Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 5.","acronym":"PFBMFT5.","accession":"DI-05708","synonyms":null,"cross_references":"MeSH; D011658.","definition":"A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT5 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 4.","acronym":"PFBMFT4.","accession":"DI-04430","synonyms":null,"cross_references":"MeSH; D011658.","definition":"An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. ","keywords":null},{"identifier":"Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3.","acronym":"PFBMFT3.","accession":"DI-04431","synonyms":null,"cross_references":"MeSH; D011658.","definition":"An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. ","keywords":null},{"identifier":"Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1.","acronym":"PFBMFT1.","accession":"DI-03500","synonyms":null,"cross_references":"MeSH; D011658.","definition":"An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. ","keywords":null},{"identifier":"Pulmonary disease, chronic obstructive.","acronym":"COPD.","accession":"DI-01352","synonyms":"Chronic obstructive lung disease.; Severe early-onset chronic obstructive pulmonary disease.; ","cross_references":"MeSH; D029424.","definition":"A common, complex disorder defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC). ","keywords":null},{"identifier":"Pulmonary alveolar microlithiasis.","acronym":"PULAM.","accession":"DI-02232","synonyms":null,"cross_references":"MedGen; C0155912.","definition":"Rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades and generally, the diagnosis is incidental to clinical investigations unrelated to the disease. Cases with early-onset or rapid progression are rare. A 'sandstorm- appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age and the disease follows a long-term, progressive course, resulting in a slow deterioration of lung functions. Pulmonary alveolar microlithiasis is a recessive monogenic disease with full penetrance. ","keywords":null},{"identifier":"Psoriatic arthritis.","acronym":"PSORAS.","accession":"DI-02697","synonyms":"Arthritic psoriasis.; Psoriasis arthropathica.; Psoriatic arthropathy.; ","cross_references":"MeSH; D015535.","definition":"An inflammatory, seronegative arthritis associated with psoriasis. It is a heterogeneous disorder ranging from a mild, non-destructive disease to a severe, progressive, erosive arthropathy. Five types of psoriatic arthritis have been defined: asymmetrical oligoarthritis characterized by primary involvement of the small joints of the fingers or toes; asymmetrical arthritis which involves the joints of the extremities; symmetrical polyarthritis characterized by a rheumatoid like pattern that can involve hands, wrists, ankles, and feet; arthritis mutilans, which is a rare but deforming and destructive condition; arthritis of the sacroiliac joints and spine (psoriatic spondylitis). ","keywords":null}]}