{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=120","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=80","results":[{"identifier":"Adams-Oliver syndrome 5.","acronym":"AOS5.","accession":"DI-04227","synonyms":null,"cross_references":"MeSH; D017880.","definition":"A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ","keywords":null},{"identifier":"Adams-Oliver syndrome 6.","acronym":"AOS6.","accession":"DI-04559","synonyms":null,"cross_references":"MeSH; D017880.","definition":"A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ","keywords":null},{"identifier":"Adenine phosphoribosyltransferase deficiency.","acronym":"APRTD.","accession":"DI-01188","synonyms":"2,8-dihydroxyadenine urolithiasis.; APRT deficiency.; Nephrolithiasis DHA.; Urolithiasis DHA.; ","cross_references":"MeSH; D011686.","definition":"An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. ","keywords":null},{"identifier":"Adenosine monophosphate deaminase deficiency erythrocyte type.","acronym":"AMPDDE.","accession":"DI-00038","synonyms":"AMP deaminase deficiency erythrocyte type.; Erythrocyte AMP deaminase deficiency.; ","cross_references":"MeSH; D008659.","definition":"A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders. ","keywords":null},{"identifier":"Adenylosuccinase deficiency.","acronym":"ADSLD.","accession":"DI-00040","synonyms":"Adenylosuccinate lyase deficiency.; ADSL deficiency.; ","cross_references":"MeSH; D011686.","definition":"An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA- riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Adermatoglyphia.","acronym":"ADERM.","accession":"DI-03267","synonyms":"Absence of fingerprints.; Immigration delay disease.; ","cross_references":"MeSH; D012868.","definition":"An autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles. ","keywords":null},{"identifier":"Adie pupil.","acronym":"ADIEP.","accession":"DI-01174","synonyms":"Adie syndrome.; Holmes-Adie syndrome.; Tonic pupil.; ","cross_references":"MeSH; D015845.","definition":"A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J. ","keywords":null},{"identifier":"Adiponectin deficiency.","acronym":"ADPOD.","accession":"DI-00041","synonyms":null,"cross_references":"MeSH; D009765.","definition":"An autosomal dominant condition characterized by very low concentrations of plasma adiponectin. Levels of adiponectin are decreased in obesity and may contribute to a chronic state of inflammation that leads to insulin resistance, type 2 diabetes, coronary artery disease, myocardial infarction, non-alcoholic steatohepatitis, and kidney disease. ","keywords":"KW-0219:Diabetes mellitus.; KW-0550:Obesity.; "},{"identifier":"Adrenal hyperplasia 1.","acronym":"AH1.","accession":"DI-01407","synonyms":"Congenital lipoid adrenal hyperplasia.; Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism.; Lipoid CAH.; ","cross_references":"MeSH; D000312.","definition":"The most severe form of adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted. ","keywords":"KW-0954:Congenital adrenal hyperplasia.; "},{"identifier":"Adrenal hyperplasia 2.","acronym":"AH2.","accession":"DI-00042","synonyms":"3-beta-HSD deficiency.; 3-beta-hydroxysteroid dehydrogenase type II deficiency.; Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency.; Adrenal hyperplasia type II.; AH-II.; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency.; ","cross_references":"MeSH; D000312.","definition":"A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life. ","keywords":"KW-0954:Congenital adrenal hyperplasia.; "},{"identifier":"Adrenal hyperplasia 3.","acronym":"AH3.","accession":"DI-00043","synonyms":"Adrenal hyperplasia type III.; AH-III.; CAH1.; Congenital adrenal hyperplasia 1.; Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.; Hyperandrogenism nonclassic type due to 21-hydroxylase deficiency.; ","cross_references":"MeSH; D000312.","definition":"A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). ","keywords":"KW-0954:Congenital adrenal hyperplasia.; "},{"identifier":"Adrenal hyperplasia 4.","acronym":"AH4.","accession":"DI-00044","synonyms":"Adrenal hyperplasia type IV.; AH-IV.; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency.; ","cross_references":"MeSH; D000312.","definition":"A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). ","keywords":"KW-0954:Congenital adrenal hyperplasia.; "},{"identifier":"Adrenal hyperplasia 5.","acronym":"AH5.","accession":"DI-00045","synonyms":"Adrenal hyperplasia type V.; AH-V.; Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency.; ","cross_references":"MeSH; D000312.","definition":"A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). ","keywords":"KW-0954:Congenital adrenal hyperplasia.; "},{"identifier":"Adrenal hypoplasia, congenital.","acronym":"AHC.","accession":"DI-02426","synonyms":"Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism.; AHCH.; AHC with HHG.; AHC with isolated gonadotropin deficiency.; AHX.; Cytomegalic adrenocortical hypoplasia.; X-linked Addison disease.; X-linked adrenal hypoplasia congenital.; ","cross_references":"MeSH; D000309.","definition":"A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern. ","keywords":null},{"identifier":"Adrenal insufficiency, congenital, with 46,XY sex reversal.","acronym":"AICSR.","accession":"DI-03022","synonyms":"Adrenal insufficiency congenital with 46,XY sex reversal partial or complete.; P450scc deficiency.; ","cross_references":"MeSH; D047808.","definition":"A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia. ","keywords":null},{"identifier":"Adrenal insufficiency, NR5A1-related.","acronym":"AINR.","accession":"DI-05003","synonyms":null,"cross_references":"MeSH; D000309.","definition":"A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt- wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. ","keywords":null},{"identifier":"Adrenocortical carcinoma.","acronym":"ADCC.","accession":"DI-02740","synonyms":"Hereditary adrenocortical carcinoma.; Pediatric adrenocortical carcinoma.; ","cross_references":"MeSH; D018268.","definition":"A malignant neoplasm of the adrenal cortex and a rare childhood tumor. It occurs with increased frequency in patients with Beckwith-Wiedemann syndrome and Li-Fraumeni syndrome. ","keywords":null},{"identifier":"Adrenoleukodystrophy.","acronym":"ALD.","accession":"DI-00050","synonyms":"Addison disease and cerebral sclerosis.; Adrenomyeloneuropathy.; AMN.; Bronze Schilder disease.; Melanodermic leukodystrophy.; Siemerling-Creutzfeldt disease.; ","cross_references":"MeSH; D000326.","definition":"A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. ","keywords":null},{"identifier":"Adrenoleukodystrophy, pseudoneonatal.","acronym":"Pseudo-NALD.","accession":"DI-00049","synonyms":"Peroxisomal acyl-CoA oxidase deficiency.; ","cross_references":"MeSH; D000326.","definition":"A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include intellectual disability, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning. ","keywords":null},{"identifier":"Advanced sleep phase syndrome, familial, 1.","acronym":"FASPS1.","accession":"DI-01548","synonyms":null,"cross_references":"MeSH; D020178.","definition":"An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ","keywords":null}]}