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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前ページ 検索結果 9713件中2301-2325件目 次ページ



項番 疾患No 英語疾患名
2301 243000 Indifference to pain, congenital, autosomal recessive (CIP)
(Insensitivity to pain, channelopathy-associated)
(Congenital analgesia, autosomal recessive)
(Asymbolia for pain)
(Neuropathy, hereditary sensory and autonomic, type IID, included; HSAN2D)
2302 243050 Indolylacroyl glycinemia with mental retardation
2303 243060 Spermatogenic failure 5 (SPGF5)
(Male infertility with large-headed, multiflagellar, polyploid spermatozoa)
(Infertility associated with multi-tailed spermatozoa and excessive DNA)
2304 243080 Inosine phosphorylase deficiency, immune defect due to
2305 243100 Internal carotid arteries, hypoplasia of
2306 243110 Immunodeficiency with defective T-cell response to interleukin 1
(Interleukin 1, defective T-cell response to)
2307 243150 Gastrointestinal defects and immunodeficiency syndrome (GIDID)
(Intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency)
(Intestinal atresia, multiple ; MINAT)
(Familial intestinal polyatresia syndrome; FIPA)
2308 243150b Intestinal atresia or stenosis
2309 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)
2310 243185 Intestinal pseudoobstruction with patent ductus arteriosus and natal teeth
[Natal teeth-PDA-intestinal anomaly]
2311 243200 Intracranial hypertension, idopathic
(Pseudotumor cerebri)
2312 243300 Cholestasis, benign recurrent intrahepatic 1 (BRIC1)
(Summerskill syndrome)
2313 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)
2314 243320 Intrinsic factor and binder, combined congenital deficiency of
2315 243440 Isotretinoin embryopathy-like syndrome
(Microtia-aortic arch syndrome)
2316 243450 Isobutylic acid, inability to smell
2317 243500 Isovaleric acidemia (IVA)
(Isovaleric acid CoA dehydrogenase deficiency)
(IVD deficiency)
2318 243600 Jejunal atresia
(Apple peel syndrome)
(Apple peel small bowel syndrome; APSB)
[Christmas tree syndrome]
2319 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)
2320 243700 Hyper-IgE recurrent infection syndrome 2, autosomal recessive (HIES2)
(Hyper-IgE syndrome, autosomal recessive)
(HIES, autosomal recessive)
2321 243800 Johanson-Blizzard syndrome (JBS)
(Nasal alar hypoplasia, hypothyroidism, pancreatic achylia, congenital deafness)
2322 243910 Arima syndrome
(Dekaban-Arima syndrome)
(Joubert syndrome with bilateral chorioretinal coloboma)
(Coloboma, chorioretinal, with cerebellar vermis aplasia)
(Cerebro-oculo-hepato-renal syndrome)
2323 244100 Jumping Frenchman of Maine
2324 244200 Hypogonadotropic hypogonadism 3 with or without anosmia (HH3)
2325 244300 Kapur-Toriello syndrome
(Long columella with cleft lip/palate and eye, heart, and intestinal anomalies)

前ページ 検索結果 9713件中2301-2325件目 次ページ