{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4560","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4520","results":[{"identifier":"Myotonia congenita, autosomal recessive.","acronym":"MCAR.","accession":"DI-01247","synonyms":"Becker disease.; Generalized myotonia.; ","cross_references":"MeSH; D009224.","definition":"A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease). ","keywords":null},{"identifier":"Myotonia SCN4A-related.","acronym":"MYOSCN4A.","accession":"DI-00796","synonyms":"Myotonia congenita acetazolamide-responsive.; Myotonia congenita atypical.; Myotonia fluctuans.; Myotonia permanens.; Myotonia potassium-aggravated.; SCM.; Sodium channel muscle disease.; ","cross_references":"MeSH; D020967.","definition":"A phenotypically highly variable myotonia aggravated by potassium loading, and sometimes by cold. Myotonia is characterized by sustained muscle tensing that prevents muscles from relaxing normally. It causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. Myotonia SCN4A-related includes myotonia permanens and myotonia fluctuans. In myotonia permanens, the myotonia is generalized and there is a hypertrophy of the muscle, particularly in the neck and the shoulder. Attacks of severe muscle stiffness of the thoracic muscles may be life threatening due to impaired ventilation. In myotonia fluctuans, the muscle stiffness may fluctuate from day to day, provoked by exercise. ","keywords":null},{"identifier":"Myxoid liposarcoma.","acronym":"MXLIPO.","accession":"DI-03715","synonyms":null,"cross_references":"MeSH; D018208.","definition":"A soft tissue tumor that tends to occur in the limbs (especially the thigh) of patients ranging in age from 35 to 55 years. It is defined by the presence of a hypocellular spindle cell proliferation set in a myxoid background, often with mucin pooling. Lipoblasts tend to be small and often monovacuolated and to cluster around vessels or at the periphery of the lesion. ","keywords":null},{"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.; "},{"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":"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":"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":"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":"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":"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, 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, 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-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":"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":"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":"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":"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":"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":"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":"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.; "}]}