UR-DBMS-検索結果一覧
| 疾患No | |
| 英語疾患名 | |
| 日本語疾患名 | |
| 症状 | |
| コメント | |
| 文献 | |
| 検索方法 | すべての条件が一致 |
| 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) |