{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6700&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6660&ordering=synonyms","results":[{"identifier":"Witteveen-Kolk syndrome.","acronym":"WITKOS.","accession":"DI-05538","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal dominant syndrome characterized by global developmental delay, mild to severe intellectual disability, and facial dysmorphism. Additional features include short stature, microcephaly, joint hypermotility, and small hands and feet with digital abnormalities. Brain imaging shows dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Non-phenylketonuria hyperphenylalaninemia.","acronym":"Non-PKU HPA.","accession":"DI-02063","synonyms":null,"cross_references":"MedGen; C2678416.","definition":"Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. ","keywords":null},{"identifier":"Nizon-Isidor syndrome.","acronym":"NIZIDS.","accession":"DI-05831","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal dominant neurodevelopmental disorder characterized by intellectual disability, global developmental delay, speech impairment, and behavioral abnormalities including autism spectrum disorder and aggressive behavior. Other features include a thin corpus callosum, and mild facial dysmorphism. Disease onset is in infancy or early childhood. ","keywords":"KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Nijmegen breakage syndrome.","acronym":"NBS.","accession":"DI-02058","synonyms":null,"cross_references":"MeSH; D049932.","definition":"A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies. ","keywords":null},{"identifier":"Wolfram syndrome 2.","acronym":"WFS2.","accession":"DI-02423","synonyms":null,"cross_references":"MeSH; D014929.","definition":"A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent. ","keywords":"KW-0209:Deafness.; KW-0219:Diabetes mellitus.; "},{"identifier":"Night blindness, congenital stationary, 1I.","acronym":"CSNB1I.","accession":"DI-05643","synonyms":null,"cross_references":"MeSH; D009755.","definition":"A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1I patients present with night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Progression to mild retinitis pigmentosa may occur. CSNB1I inheritance is autosomal recessive. ","keywords":"KW-1014:Congenital stationary night blindness.; "},{"identifier":"Niemann-Pick disease C2.","acronym":"NPC2.","accession":"DI-02056","synonyms":null,"cross_references":"MeSH; D052556.","definition":"A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. ","keywords":"KW-1054:Niemann-Pick disease.; "},{"identifier":"Ovarian dysgenesis 8.","acronym":"ODG8.","accession":"DI-05386","synonyms":null,"cross_references":"MeSH; D023961.","definition":"An autosomal dominant form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ","keywords":null},{"identifier":"Woodhouse-Sakati syndrome.","acronym":"WDSKS.","accession":"DI-02424","synonyms":null,"cross_references":"MedGen; C0342286.","definition":"A rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome. ","keywords":"KW-0209:Deafness.; KW-0219:Diabetes mellitus.; KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "},{"identifier":"Woolly hair autosomal dominant.","acronym":"ADWH.","accession":"DI-02722","synonyms":null,"cross_references":"MeSH; D006201.","definition":"A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. ","keywords":null},{"identifier":"Woolly hair autosomal recessive 1 with or without hypotrichosis.","acronym":"ARWH1.","accession":"DI-01263","synonyms":null,"cross_references":"MeSH; D006201.","definition":"A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals exhibit features of hypotrichosis. ","keywords":null},{"identifier":"Night blindness, congenital stationary, 1H.","acronym":"CSNB1H.","accession":"DI-04757","synonyms":null,"cross_references":"MeSH; D009755.","definition":"A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive. ","keywords":"KW-1014:Congenital stationary night blindness.; "},{"identifier":"Nevus comedonicus.","acronym":"NC.","accession":"DI-04767","synonyms":null,"cross_references":"MeSH; D009506.","definition":"A rare type of epidermal nevus characterized by closely arranged, dilated, plugged follicular ostia in a honeycomb pattern. The plugged ostia contain lamellated keratinaceous material, and their appearance resembles black dots. NC may be non-pyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Most commonly it affects the face and neck area and, by exception, other anatomical regions, including genital area, palms, and soles. NC lesions might present with various patterns of distribution: unilateral, bilateral, linear, interrupted, segmental, or blaschkoid. ","keywords":null},{"identifier":"Woolly hair-skin fragility syndrome.","acronym":"WHSF.","accession":"DI-06738","synonyms":null,"cross_references":"MeSH; D012873.","definition":"An autosomal recessive genodermatosis characterized by woolly hair texture with slow hair growth, and skin fragility present at birth or appearing in the neonatal period. Skin fragility then resolves or only persists as minor skin peeling, predominantly affecting the palms and soles. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Wrinkly skin syndrome.","acronym":"WSS.","accession":"DI-02425","synonyms":null,"cross_references":"MeSH; D003483.","definition":"A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay. ","keywords":null},{"identifier":"Neutropenia, severe congenital, X-linked.","acronym":"XLN.","accession":"DI-02457","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ","keywords":null},{"identifier":"X-linked combined immunodeficiency.","acronym":"XCID.","accession":"DI-02437","synonyms":null,"cross_references":"MedGen; C1706416.","definition":"Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID. ","keywords":null},{"identifier":"X-linked dyserythropoietic anemia and thrombocytopenia.","acronym":"XDAT.","accession":"DI-02443","synonyms":null,"cross_references":"MedGen; C3550789.","definition":"Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes. ","keywords":null},{"identifier":"Neutropenia, severe congenital, 11, autosomal dominant.","acronym":"SCN11.","accession":"DI-06823","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l, and early onset of severe bacterial infections. SCN11 is characterized by the onset of recurrent infections, mainly bacterial, in early childhood. ","keywords":null},{"identifier":"Neutropenia, severe congenital, 10, autosomal recessive.","acronym":"SCN10.","accession":"DI-06772","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l, and early onset of severe bacterial infections. SCN10 is characterized by infantile onset of neutropenia. Anemia and thrombocytopenia may be transiently present. ","keywords":null}]}