{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6060","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6020","results":[{"identifier":"Speech-language disorder 1.","acronym":"SPCH1.","accession":"DI-02320","synonyms":"Autosomal dominant speech and language disorder with orofacial dyspraxia.; CAS.; Childhood apraxia of speech.; Developmental verbal dyspraxia.; DVD.; ","cross_references":"MeSH; D013064.","definition":"A disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals have severe impairment in the selection and sequencing of fine orofacial movements which are necessary for articulation, and deficits in several facets of grammatical skills and language processing, such as the ability to break up words into their constituent phonemes. ","keywords":null},{"identifier":"Spermatogenic failure 1.","acronym":"SPGF1.","accession":"DI-05773","synonyms":"Oligochiasmic infertility.; Oligosynaptic infertility.; ","cross_references":"MeSH; D007248.","definition":"An infertility disorder characterized by azoospermia due to spermatogenic arrest during meiosis. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n, but that are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules and degenerate. Both autosomal recessive and autosomal dominant inheritance have been reported. ","keywords":null},{"identifier":"Spermatogenic failure 10.","acronym":"SPGF10.","accession":"DI-03528","synonyms":"Spermatogenic failure with defective sperm annulus.; ","cross_references":"MeSH; D007248.","definition":"An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. The most prominent feature is a defective sperm annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. ","keywords":null},{"identifier":"Spermatogenic failure 11.","acronym":"SPGF11.","accession":"DI-03655","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Oligozoospermia is usually observed in SPGF11 patients. In addition to oligozoospermia, teratozoospermia and moderate asthenozoospermia is observed in some cases. ","keywords":null},{"identifier":"Spermatogenic failure 12.","acronym":"SPGF12.","accession":"DI-03877","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Non-obstructive azoospermia, oligozoospermia and oligo-astheno-teratozoospermia are features observed in SPGF12 patients. ","keywords":null},{"identifier":"Spermatogenic failure 13.","acronym":"SPGF13.","accession":"DI-04119","synonyms":null,"cross_references":"MeSH; D053713.","definition":"A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. ","keywords":null},{"identifier":"Spermatogenic failure 14.","acronym":"SPGF14.","accession":"DI-04124","synonyms":null,"cross_references":"MeSH; D053713.","definition":"A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. ","keywords":null},{"identifier":"Spermatogenic failure, 15.","acronym":"SPGF15.","accession":"DI-04721","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An infertility disorder caused by spermatogenesis defects and characterized by non-obstructive azoospermia due to complete meiotic maturation arrest. SPGF15 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Spermatogenic failure 16.","acronym":"SPGF16.","accession":"DI-04878","synonyms":"Acephalic spermatozoa syndrome.; ","cross_references":"MeSH; D007248.","definition":"An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. Most spermatozoa are made up of headless tails, while a small proportion has an abnormal head-tail junction. A few spermatozoa are made up of tailless heads. ","keywords":null},{"identifier":"Spermatogenic failure 17.","acronym":"SPGF17.","accession":"DI-04868","synonyms":"Male infertility due to oocyte activation failure.; ","cross_references":"MeSH; D007248.","definition":"An autosomal recessive infertility disorder due to failure of oocyte activation and fertilization by sperm that otherwise exhibits normal morphology. ","keywords":null},{"identifier":"Spermatogenic failure 18.","acronym":"SPGF18.","accession":"DI-05027","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF18 patients present with primary infertility and multiple morphological abnormalities of sperm flagella that result in impaired sperm mobility. Abnormalities include absent, short, coiled, bent, and irregular flagella. SPGF18 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Spermatogenic failure 19.","acronym":"SPGF19.","accession":"DI-05026","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF19 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. ","keywords":null},{"identifier":"Spermatogenic failure 2.","acronym":"SPGF2.","accession":"DI-06451","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An autosomal recessive disorder characterized by male infertility due to non-obstructive azoospermia. Testicular histopathology reveals no round spermatids or spermatozoa in the seminiferous tubules of SPGF2 patients, consistent with meiotic arrest. ","keywords":null},{"identifier":"Spermatogenic failure 20.","acronym":"SPGF20.","accession":"DI-05028","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF20 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. ","keywords":null},{"identifier":"Spermatogenic failure 21.","acronym":"SPGF21.","accession":"DI-05077","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An infertility disorder caused by spermatogenesis defects and characterized by acephalic spermatozoa in the semen of affected individuals. SPGF21 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Spermatogenic failure 22.","acronym":"SPGF22.","accession":"DI-05083","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia. ","keywords":null},{"identifier":"Spermatogenic failure 23.","acronym":"SPGF23.","accession":"DI-05085","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia. ","keywords":null},{"identifier":"Spermatogenic failure 24.","acronym":"SPGF24.","accession":"DI-05256","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate. ","keywords":null},{"identifier":"Spermatogenic failure 25.","acronym":"SPGF25.","accession":"DI-05242","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An autosomal recessive infertility disorder caused by spermatogenesis defects that result in severe oligozoospermia or azoospermia. ","keywords":null},{"identifier":"Spermatogenic failure 26.","acronym":"SPGF26.","accession":"DI-05243","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An autosomal recessive infertility disorder caused by spermatogenesis defects that result in acephalic spermatozoa. ","keywords":null}]}