UR-DBMS-検索結果一覧

UR-DBMS-検索結果一覧



疾患No
英語疾患名
日本語疾患名
症状
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項番 疾患No 英語疾患名
2301 243180 Visceral neuropathy, familial, autosomal recessive
(Intestinal pseudoobstruction due to neuronal disease)
(Argyrophil myenteric plexus, deficiency of)
(Pseudoobstruction, chronic idiopathic intestinal, neuronal type)
(Neuronal intestinal dysplasia, type A; included)
(NID A, included)
2302 243185 Intestinal pseudoobstruction with patent ductus arteriosus and natal teeth
[Natal teeth-PDA-intestinal anomaly]
2303 243200 Intracranial hypertension, idopathic
(Pseudotumor cerebri)
2304 243300 Cholestasis, benign recurrent intrahepatic 1 (BRIC1)
(Summerskill syndrome)
2305 243310 Baraitser-Winter syndrome 1 (BRWS1)
(Iris coloboma with ptosis, hypertelorism, and mental retardation)
(Fryns-Aftimos syndrome)
(Pachygyria, mental retardation, epilepsy, and characteristic facies)
(Cerebrooculofacial lymphatic syndrome; COFLS)
(Mental retardation with epilepsy and charactristic facies )
(Cerebrofrontofacial syndrome)
2306 243320 Intrinsic factor and binder, combined congenital deficiency of
2307 243440 Isotretinoin embryopathy-like syndrome
(Microtia-aortic arch syndrome)
2308 243450 Isobutylic acid, inability to smell
2309 243500 Isovaleric acidemia (IVA)
(Isovaleric acid CoA dehydrogenase deficiency)
(IVD deficiency)
2310 243600 Jejunal atresia
(Apple peel syndrome)
(Apple peel small bowel syndrome; APSB)
[Christmas tree syndrome]
2311 243605 Stromme syndrome (STROMS)
(Jejunal atresia with microcephaly and ocular anomalies)
(Apple peel syndrome with microcephaly and ocular anomalies)
(Ciliary dyskinesia, primary, 31, formerly; CID31L)
2312 243700 Hyper-IgE recurrent infection syndrome 2, autosomal recessive (HIES2)
(Hyper-IgE syndrome, autosomal recessive)
(HIES, autosomal recessive)
2313 243800 Johanson-Blizzard syndrome (JBS)
(Nasal alar hypoplasia, hypothyroidism, pancreatic achylia, congenital deafness)
2314 243910 Arima syndrome
(Dekaban-Arima syndrome)
(Joubert syndrome with bilateral chorioretinal coloboma)
(Coloboma, chorioretinal, with cerebellar vermis aplasia)
(Cerebro-oculo-hepato-renal syndrome)
2315 244100 Jumping Frenchman of Maine
2316 244200 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3)
2317 244300 Kapur-Toriello syndrome
(Long columella with cleft lip/palate and eye, heart, and intestinal anomalies)
2318 244400 Ciliary dyskinesia, primary, 1 (CILD1)
(PCD)
(Ciliary dyskinesia, primary, 1, with or without situs inversus)
(Immotile cilia syndrome; ICS)
(Polynesian bronchiectasis)
(Kartagener syndrome, included)
(Dextrocardia, bronchiectasis, and sinusitis, included)
(Siewert syndrome, included)
2319 244450 Kaufman oculocerebrofacial syndrome (KOS)
(Blephalophimosis-ptosis-intellectural disability syndrome; BPIDS)
2320 244460 Kenny-Caffey syndrome, type 1 (KCS1)
(KCS)
(Kenny-Caffey syndrome, autosomal recessive)
2321 244510 Keratoconus and congenital hip dysplasia
2322 244600 Keratoconus posticus circumscriptus (KPC)
(KPC with associated malformations, included)
[Keratoconus-corneal opacity-cleft lip/palate-MR, Young 1982]
[Cleft lip-palate, posterior keratoconus, short stature, mental retardation, and genitourinary anomalies]
2323 244850 Keratoderma, palmoplantar, Norrbotten recessive type (PPKNR)
2324 245000 Papillon-Lefevre syndrome (PALS)
(PLS)
(Keratosis palmoplantaris with periodontopathia)
2325 245010 Haim-Munk syndrome (HMS)
(Keratosis palmoplantaris with periodontopathia and onychogryposis)
(Cochin Jewish disorder)

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