{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6360&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6320&ordering=synonyms","results":[{"identifier":"Premature ovarian failure 9.","acronym":"POF9.","accession":"DI-04070","synonyms":null,"cross_references":"MeSH; D016649.","definition":"An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ","keywords":"KW-1066:Premature ovarian failure.; "},{"identifier":"Symphalangism, proximal 1B.","acronym":"SYM1B.","accession":"DI-03804","synonyms":null,"cross_references":"MeSH; D007592.","definition":"A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone. ","keywords":null},{"identifier":"Premature ovarian failure 8.","acronym":"POF8.","accession":"DI-04093","synonyms":null,"cross_references":"MeSH; D016649.","definition":"An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ","keywords":"KW-1066:Premature ovarian failure.; "},{"identifier":"Premature ovarian failure 7.","acronym":"POF7.","accession":"DI-02517","synonyms":null,"cross_references":"MeSH; D016649.","definition":"An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ","keywords":"KW-1066:Premature ovarian failure.; "},{"identifier":"Premature ovarian failure 6.","acronym":"POF6.","accession":"DI-02196","synonyms":null,"cross_references":"MeSH; D016649.","definition":"An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ","keywords":"KW-1066:Premature ovarian failure.; "},{"identifier":"Premature ovarian failure 5.","acronym":"POF5.","accession":"DI-02195","synonyms":null,"cross_references":"MeSH; D016649.","definition":"An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ","keywords":"KW-1066:Premature ovarian failure.; "},{"identifier":"Premature ovarian failure 4.","acronym":"POF4.","accession":"DI-02194","synonyms":null,"cross_references":"MeSH; D016649.","definition":"An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ","keywords":"KW-1066:Premature ovarian failure.; "},{"identifier":"Premature ovarian failure 3.","acronym":"POF3.","accession":"DI-02193","synonyms":null,"cross_references":"MeSH; D016649.","definition":"An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ","keywords":"KW-1066:Premature ovarian failure.; "},{"identifier":"Systemic lupus erythematosus.","acronym":"SLE.","accession":"DI-02648","synonyms":null,"cross_references":"MeSH; D008180.","definition":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ","keywords":"KW-0772:Systemic lupus erythematosus.; "},{"identifier":"Systemic lupus erythematosus 1.","acronym":"SLEB1.","accession":"DI-02649","synonyms":null,"cross_references":"MeSH; D008180.","definition":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ","keywords":"KW-0772:Systemic lupus erythematosus.; "},{"identifier":"Systemic lupus erythematosus 10.","acronym":"SLEB10.","accession":"DI-02652","synonyms":null,"cross_references":"MeSH; D008180.","definition":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ","keywords":"KW-0772:Systemic lupus erythematosus.; "},{"identifier":"Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 4.","acronym":"TEBIVANED4.","accession":"DI-06449","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by global developmental delay with poor overall growth, variably impaired intellectual development, learning difficulties, distal skeletal anomalies, and dysmorphic facies. Some patients have visual or hearing deficits. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Systemic lupus erythematosus 11.","acronym":"SLEB11.","accession":"DI-02653","synonyms":null,"cross_references":"MeSH; D008180.","definition":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ","keywords":"KW-0772:Systemic lupus erythematosus.; "},{"identifier":"Systemic lupus erythematosus 16.","acronym":"SLEB16.","accession":"DI-03334","synonyms":null,"cross_references":"MeSH; D008180.","definition":"A rare autosomal recessive form of systemic lupus erythematosus with childhood onset, characterized by high frequency of anti-neutrophil cytoplasmic antibodies and lupus nephritis. Systemic lupus erythematosus is a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ","keywords":"KW-0772:Systemic lupus erythematosus.; "},{"identifier":"Systemic lupus erythematosus 17.","acronym":"SLEB17.","accession":"DI-06410","synonyms":null,"cross_references":"MeSH; D008180.","definition":"A form of systemic lupus erythematosus, a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. SLEB17 is an X-linked dominant form characterized by onset of systemic autoinflammatory symptoms in the first decades of life. ","keywords":"KW-0772:Systemic lupus erythematosus.; "},{"identifier":"Systemic lupus erythematosus 2.","acronym":"SLEB2.","accession":"DI-02650","synonyms":null,"cross_references":"MeSH; D008180.","definition":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ","keywords":"KW-0772:Systemic lupus erythematosus.; "},{"identifier":"Systemic lupus erythematosus 6.","acronym":"SLEB6.","accession":"DI-02654","synonyms":null,"cross_references":"MeSH; D008180.","definition":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ","keywords":"KW-0772:Systemic lupus erythematosus.; "},{"identifier":"Systemic lupus erythematosus 9.","acronym":"SLEB9.","accession":"DI-02651","synonyms":null,"cross_references":"MeSH; D008180.","definition":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ","keywords":"KW-0772:Systemic lupus erythematosus.; "},{"identifier":"Systemic primary carnitine deficiency.","acronym":"CDSP.","accession":"DI-02356","synonyms":null,"cross_references":"MedGen; C0342788.","definition":"Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. ","keywords":null},{"identifier":"Premature ovarian failure 2B.","acronym":"POF2B.","accession":"DI-02192","synonyms":null,"cross_references":"MeSH; D016649.","definition":"An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ","keywords":"KW-1066:Premature ovarian failure.; "}]}