{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2180&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2140&ordering=-identifier","results":[{"identifier":"Nemaline myopathy 5A, autosomal recessive, severe infantile.","acronym":"NEM5A.","accession":"DI-02036","synonyms":"Amish nemaline myopathy.; ANM.; Nemaline myopathy Amish type.; TNNT1-related nemaline myopathy.; ","cross_references":"MeSH; D017696.","definition":"A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5A is a severe and progressive form characterized by symptom onset soon after birth or in early infancy. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year. ","keywords":"KW-1057:Nemaline myopathy.; "},{"identifier":"Nemaline myopathy 2.","acronym":"NEM2.","accession":"DI-02033","synonyms":"NEB-related nemaline myopathy.; ","cross_references":"MeSH; D017696.","definition":"A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. ","keywords":"KW-1057:Nemaline myopathy.; "},{"identifier":"Nemaline myopathy 10.","acronym":"NEM10.","accession":"DI-04292","synonyms":null,"cross_references":"MeSH; D017696.","definition":"An autosomal recessive severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy. ","keywords":"KW-1057:Nemaline myopathy.; "},{"identifier":"Naxos disease.","acronym":"NXD.","accession":"DI-00798","synonyms":"Cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities.; Keratosis palmoplantaris with arrythmogenic cardiomyopathy.; Mal de Naxos.; Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair.; Woolly hair, palmoplantar keratoderma, and cardiac abnormalities.; ","cross_references":"MeSH; D019571.","definition":"An autosomal recessive disorder characterized by the association of diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated cardiomyopathy and arrhythmogenic right ventricular dysplasia. ","keywords":"KW-0122:Cardiomyopathy.; KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Nasopharyngeal carcinoma, 3.","acronym":"NPCA3.","accession":"DI-04806","synonyms":null,"cross_references":"MeSH; D009303.","definition":"A form of nasopharyngeal carcinoma, a malignant neoplasm that originates in the nasopharyngeal epithelium and includes 4 subtypes: keratinizing squamous cell, non-keratinizing, basaloid squamous cell, and papillary adenocarcinoma. ","keywords":null},{"identifier":"Narcolepsy 7.","acronym":"NRCLP7.","accession":"DI-03240","synonyms":"Narcolepsy-cataplexy syndrome 7.; Narcoleptic syndrome 7.; ","cross_references":"MeSH; D009290.","definition":"Neurological disabling sleep disorder, characterized by excessive daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid- eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions, which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a sporadically occurring disorder but familial clustering has been observed. ","keywords":null},{"identifier":"Narcolepsy 1.","acronym":"NRCLP1.","accession":"DI-02029","synonyms":"Narcolepsy-cataplexy syndrome.; Narcoleptic syndrome 1.; ","cross_references":"MeSH; D009290.","definition":"Neurological disabling sleep disorder, characterized by excessive daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid- eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions, which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a sporadically occurring disorder but familial clustering has been observed. ","keywords":null},{"identifier":"Nanophthalmos 4.","acronym":"NNO4.","accession":"DI-04209","synonyms":"Nanophthalmia 4.; ","cross_references":"MeSH; D008850.","definition":"A rare disorder of eye development characterized by extreme hyperopia (farsightedness) and small functional eyes. The cornea and lens are normal in size and shape. Hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina. ","keywords":null},{"identifier":"Nanophthalmos 2.","acronym":"NNO2.","accession":"DI-02028","synonyms":"Nanophthalmia 2.; Nanophthalmos, autosomal recessive.; ","cross_references":"MeSH; D008850.","definition":"Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. ","keywords":null},{"identifier":"Nance-Horan syndrome.","acronym":"NHS.","accession":"DI-02027","synonyms":"Cataract-dental syndrome.; ","cross_references":"MedGen; C0796085.","definition":"Rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, intellectual disability. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described. ","keywords":null},{"identifier":"Nail-patella syndrome.","acronym":"NPS.","accession":"DI-02026","synonyms":"Onychoosteodysplasia.; ","cross_references":"MedGen; C0027341.","definition":"Disease that cause abnormal skeletal patterning and renal dysplasia. ","keywords":null},{"identifier":"Nail disorder, non-syndromic congenital, 8.","acronym":"NDNC8.","accession":"DI-01844","synonyms":"Isolated toenail dystrophy.; Isolated toenail dystrophy without skin fragility.; ","cross_references":"MeSH; D009260.","definition":"A nail disorder characterized by isolated toenail dystrophy. The nail changes are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge. ","keywords":null},{"identifier":"Nail disorder, non-syndromic congenital, 4.","acronym":"NDNC4.","accession":"DI-01185","synonyms":"Anonychia/hyponychia congenita.; Anonychia congenita totalis.; Hyponychia congenita.; ","cross_references":"MeSH; D009260.","definition":"A nail disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies. ","keywords":null},{"identifier":"Nail disorder, non-syndromic congenital, 3.","acronym":"NDNC3.","accession":"DI-03200","synonyms":"Leukonychia partialis.; Leukonychia punctata.; Leukonychia striatus.; Leukonychia totalis.; Leukonychia totalis and/or partialis.; Porcelain nails.; ","cross_references":"MeSH; D009260.","definition":"A nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata). ","keywords":null},{"identifier":"Nail disorder, non-syndromic congenital, 1.","acronym":"NDNC1.","accession":"DI-03199","synonyms":"Claw-shaped nails.; Nail disorder, non-syndromic congenital, 10.; NDNC10.; Onychauxis hyponychia and onycholysis.; ","cross_references":"MeSH; D054039.","definition":"An autosomal recessive nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair, teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal psychomotor development. ","keywords":null},{"identifier":"Naegeli-Franceschetti-Jadassohn syndrome.","acronym":"NFJS.","accession":"DI-00797","synonyms":"Naegeli syndrome.; NFJ syndrome.; ","cross_references":"MeSH; D007645.","definition":"A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-1007:Palmoplantar keratoderma.; "},{"identifier":"N-acetylglutamate synthase deficiency.","acronym":"NAGSD.","accession":"DI-02025","synonyms":"Hyperammonemia due to N-acetylglutamate synthetase deficiency.; N-acetylglutamate synthetase deficiency.; NAGS deficiency.; ","cross_references":"MeSH; D056806.","definition":"Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. ","keywords":null},{"identifier":"N-acetylaspartate deficiency.","acronym":"NACED.","accession":"DI-03149","synonyms":"Hypoacetylaspartia.; NAA deficiency.; ","cross_references":"MeSH; D000592.","definition":"A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. ","keywords":null},{"identifier":"Nabais Sa-de Vries syndrome 2.","acronym":"NSDVS2.","accession":"DI-05806","synonyms":"Nabais Sa-de Vries syndrome, type 2.; NEDMACE.; Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies.; ","cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by global developmental delay apparent from birth, impaired intellectual development, speech delay, dysmorphic facial features, and additional anomalies including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Nabais Sa-de Vries syndrome 1.","acronym":"NSDVS1.","accession":"DI-05805","synonyms":"Nabais Sa-de Vries syndrome, type 1.; NEDMIDF.; Neurodevelopmental disorder with microcephaly and dysmorphic facies.; ","cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show congenital microcephaly and dysmorphic facial features, including round face, small palpebral fissures, highly arched eyebrows, and short nose. ","keywords":"KW-0991:Intellectual disability.; "}]}