UR-DBMS-検索結果一覧

UR-DBMS-検索結果一覧



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英語疾患名
日本語疾患名
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項番 疾患No 英語疾患名
2326 245010 Haim-Munk syndrome (HMS)
(Keratosis palmoplantaris with periodontopathia and onychogryposis)
(Cochin Jewish disorder)
2327 245100 Richard-Rundle syndrome (RRNS)
(Ataxia-deafness-retardation syndrome with ketoacidosis)
2328 245130 Ketoadipicaciduria
2329 245150 Keutel syndrome (KTLS)
(Pulmonary stenosis, brachytelephalangy, and calcification of cartilages)
2330 245160 Kniest-like dysplasia with pursed lips and ectopia lentis
(Burton syndrome)
2331 245180 Kifafa seizure disorder
2332 245190 Kniest-like dysplasia, lethal
2333 245200 Krabbe disease
(Globoid cell leukodystrophy; GLD; GCL)
(Globoid cell leukoencephalopathy)
(Galactosylceramide beta-galactosidase deficiency)
(Galactosylceramidase deficiency)
(GALC deficiency)
2334 245300 Kuru, susceptibility to
2335 245340 Erythrocyte lactate transporter defect
(Lactate transporter defect, myopathy due to)
2336 245348 Pyruvate dehydrogenase E2 deficiency (PDHDD)
(Lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex)
2337 245400 Mitochondrial DNA depletion syndrome 9 (encephalmyopathic type with methylmalonic aciduria) (MTDPS9)
(Lactic acidosis, fatal infantile, formerly)
2338 245450 D-lactic aciduria with gout (DLACD)
(Uric acid concentration,serum, quantitative trait locus 7; UAQTL7)
(Gout susceptibility to, 5; GOUT5)
2339 245480 Specific granule deficiency (SGD)
(Lactoferrin-deficient neutrophils)
(Neutrophil lactoferrin deficiency)
2340 245550 Lambert syndrome
(Branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia)
[Branchial anomalies-congenital heart disease-mental retardation-talipes [Lambert 1982]]
2341 245552 Lambotte syndrome
(Microcephaly, holoprosencephaly, and intrauterine growth retardation)
2342 245570 Epilepsy, focal, with speech and with or without mental retardation (FESD)
(Aphasia, aquired, with epilepsy)
(Landau-Kleffner syndrome, included; LKS)
(Continusous spike and waves during slow-wave sleep syndrome, included; CSWS; CSWSS,)
(Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant, included; RESDAD; ADRESD)
(Benign epilepsy of childhood with centrotemporal spikes, included BECTS)
2343 245590 Growth hormone insensitivity syndrome with ummune dysregulation 1, autosomal recessive (GHISID1)
(Laron syndrome due to postreceptor defect)
(Growth hormone insensitivity due to postreceptor defect)
2344 245600 Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defetcts (JDSCD)
(Larsen syndrome, autosomal recessive, formerly)
2345 245650 Larsen-like syndrome, lethal type
2346 245660 Laryngoonychocutaneous syndrome (LOCS)
(LOGIC syndrome)
2347 245800 Laurence-Moon syndrome (LNMS)
2348 245900 Lecithin:cholesterol acyltransferase deficiency
(LCAT deficiency)
(Norum disease)
2349 246000 Leg, absence deformity of, with congenital cataract
2350 246200 Donohue syndrome
(Leprechaunism)
(Insulin receptor, defect in, inclcuded)

前ページ 検索結果 9840件中2326-2350件目 次ページ