Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies (DIAR3)

伴或不伴其他先天性异常的先天失钠性分泌型腹泻3型(来自ICD-11)

别称:

Diarrhea 3, Secretory Sodium, Congenital, Syndromic

Congenital Secretory Sodium Diarrhea 3

Congenital Sodium Diarrhea

Diar3

Csd

Congenital Secretory Sodium Diarrhoea 3 with or Without Other Congenital Anomalies

Congenital Secretory Sodium Diarrhea 3 with or Without Other Congenital Anomalies

Diarrhea, Type 3, Secretory Sodium, Congenital, Syndromic

Congenital Secretory Sodium Diarrhoea 3 Syndromic

Congenital Secretory Sodium Diarrhea 3 Syndromic

Congenital Secretory Diarrhea, Sodium Type

Non-Syndromic Congenital Sodium Diarrhea

Congenital Secretory Sodium Diarrhoea 3

Sodium Diarrhea, Congenital

Na-H Exchange Deficiency

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

腹泻3型，分泌性钠，先天性，伴有或不伴有其他先天性异常，也称为腹泻3型，分泌性钠，先天性，综合征型，与腹泻8型，分泌性钠，先天性和腹泻有关，症状包括腹泻和水样腹泻。与腹泻3型，分泌性钠，先天性，伴有或不伴有其他先天性异常有关的重要基因是SPINT2（丝氨酸肽酶抑制剂，Kunitz型2）。附属组织包括嗅球和骨，相关表型为巨脑和低耳。

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