{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6700&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6660&ordering=-identifier","results":[{"identifier":"Aarskog-Scott syndrome.","acronym":"AAS.","accession":"DI-00012","synonyms":"Faciodigitogenital syndrome.; Faciogenital dysplasia.; Faciogenital dysplasia with attention deficit-hyperactivity disorder.; ","cross_references":"MeSH; D001289.","definition":"An X-linked recessive, rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest intellectual disability, attention deficit disorder and hyperactivity. ","keywords":null},{"identifier":"Aaland island eye disease.","acronym":"AIED.","accession":"DI-01163","synonyms":"Aland island eye disease.; Forsius-Eriksson type ocular albinism.; ","cross_references":"MeSH; D014786.","definition":"A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions. ","keywords":null},{"identifier":"5-oxoprolinase deficiency.","acronym":"OPLAHD.","accession":"DI-03412","synonyms":"Oxoprolinuria due to oxoprolinase deficiency.; ","cross_references":"MeSH; D000592.","definition":"A disorder characterized by calcium oxalate/carbonate urolithiasis, and excessive urinary 5-oxo-L-proline. Affected individuals have recurrent episodes of vomiting, diarrhea, and abdominal pain. ","keywords":null},{"identifier":"46,XY sex reversal 9.","acronym":"SRXY9.","accession":"DI-04251","synonyms":"46,XY sex reversal, ZFPM2-related.; ","cross_references":"MeSH; D006061.","definition":"A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females or have ambiguous external genitalia. ","keywords":null},{"identifier":"46,XY sex reversal 8.","acronym":"SRXY8.","accession":"DI-03279","synonyms":"Male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase.; TDD.; ","cross_references":"MeSH; D006061.","definition":"A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. ","keywords":null},{"identifier":"46,XY sex reversal 7.","acronym":"SRXY7.","accession":"DI-01379","synonyms":"46,XY gonadal dysgenesis, partial or complete, DHH-related.; 46,XY sex reversal, partial or complete, DHH-related.; Complete pure gonadal dysgenesis 46,XY type.; GDXYM.; Male-limited gonadal dysgenesis 46,XY.; ","cross_references":"MeSH; D006061.","definition":"A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. SRXY7 patients have no functional gonads. ","keywords":null},{"identifier":"46,XY sex reversal 6.","acronym":"SRXY6.","accession":"DI-03052","synonyms":"46,XY gonadal dysgenesis partial or complete MAP3K1-related.; 46,XY sex reversal partial or complete MAP3K1-related.; ","cross_references":"MeSH; D006061.","definition":"A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. ","keywords":null},{"identifier":"46,XY sex reversal 5.","acronym":"SRXY5.","accession":"DI-02807","synonyms":"46,XY gonadal dysgenesis complete CBX2-related.; 46,XY sex reversal CBX2-related.; Disorder of sex development 46,XY CBX2-related.; Sex reversal XY CBX2-related.; ","cross_references":"MeSH; D006061.","definition":"A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. ","keywords":null},{"identifier":"46,XY sex reversal 4.","acronym":"SRXY4.","accession":"DI-03328","synonyms":"46,XY gonadal dysgenesis complete or partial with 9p24.3 deletion.; Chromosome 9p24.3 deletion syndrome.; ","cross_references":"MeSH; D006061.","definition":"A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients display complete or partial gonadal dysgenesis and a chromosome 9p deletion. ","keywords":null},{"identifier":"46,XY sex reversal 3.","acronym":"SRXY3.","accession":"DI-02465","synonyms":"46,XY disorder of sex development.; 46,XY sex reversal partial or complete NR5A1-related.; Complete or partial 46,XY gonadal dysgenesis with or without adrenal failure.; XY sex reversal with or without adrenal failure.; ","cross_references":"MeSH; D006061.","definition":"A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. ","keywords":null},{"identifier":"46,XY sex reversal 2.","acronym":"SRXY2.","accession":"DI-02751","synonyms":"46,XY sex reversal DAX1-related.; Dosage-sensitive sex reversal.; DSS.; ","cross_references":"MeSH; D058490.","definition":"A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. ","keywords":null},{"identifier":"46,XY sex reversal 11.","acronym":"SRXY11.","accession":"DI-05803","synonyms":"Anorchia, familial.; Testicular regression, embryonic.; Testicular regression syndrome.; TRS.; XY gonadal agenesis/dysgenesis syndrome.; ","cross_references":"MeSH; D006061.","definition":"An autosomal dominant disorder of sex development. Affected individuals have a 46,XY karyotype and a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity. Approximately half of patients present with micropenis and bilateral or unilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia. ","keywords":null},{"identifier":"46,XY sex reversal 10.","acronym":"SRXY10.","accession":"DI-04458","synonyms":"Chromosome 17q24 deletion syndrome.; ","cross_references":"MeSH; D006061.","definition":"A disorder of sex development. Affected individuals have a 46,XY karyotype, show gonadal dysgenesis with streak gonads, look like normal females at birth, do not develop secondary sexual characteristics at puberty and do not menstruate. ","keywords":null},{"identifier":"46,XY sex reversal 1.","acronym":"SRXY1.","accession":"DI-01682","synonyms":"46,XY gonadal dysgenesis complete SRY-related.; 46,XY sex reversal SRY-related.; 46,XY true hermaphroditism SRY-related.; Gonadal dysgenesis XY female type.; Swyer syndrome.; XY females.; ","cross_references":"MeSH; D006061.","definition":"A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal. ","keywords":null},{"identifier":"46,XY gonadal dysgenesis with minifascicular neuropathy.","acronym":"GDMN.","accession":"DI-02146","synonyms":null,"cross_references":"MeSH; D006061.","definition":"An autosomal recessive disorder characterized by gonadal dysgenesis associated with polyneuropathy. Genital anomalies include the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity. ","keywords":null},{"identifier":"46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs.","acronym":"SERKAL.","accession":"DI-01613","synonyms":"SERKAL syndrome.; ","cross_references":"MeSH; D058531.","definition":"A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs. ","keywords":null},{"identifier":"46,XX sex reversal 5.","acronym":"SRXX5.","accession":"DI-05853","synonyms":null,"cross_references":"MeSH; D058531.","definition":"A condition in which male gonads develop in a genetic female (female to male sex reversal). Additional features in SRXX5 patients are congenital heart disease, congenital diaphragmatic hernia, and blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5 inheritance is autosomal dominant. ","keywords":null},{"identifier":"46,XX sex reversal 4.","acronym":"SRXX4.","accession":"DI-05002","synonyms":"46,XX sex reversal SRY-negative.; ","cross_references":"MeSH; D058531.","definition":"A condition in which male gonads develop in a genetic female (female to male sex reversal). ","keywords":null},{"identifier":"46,XX sex reversal 3.","acronym":"SRXX3.","accession":"DI-03008","synonyms":"46,XX male sex reversal SOX3-related.; ","cross_references":"MeSH; D058531.","definition":"A condition in which male gonads develop in a genetic female (female to male sex reversal). ","keywords":null},{"identifier":"46,XX sex reversal 2.","acronym":"SRXX2.","accession":"DI-03053","synonyms":"46,XX sex reversal partial or complete SOX9-related.; ","cross_references":"MeSH; D058531.","definition":"A condition in which male gonads develop in a genetic female (female to male sex reversal). ","keywords":null}]}