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2銆佽厧涓婅吅鑵︾櫧璩�(zh矛)鐕熼(y菐ng)涓嶈壇
3銆佽厧涓婅吅鐧�(f膩)鑲蹭笉鑹�
4銆佽鐞冭泲鐧借鐥�(Bruton鍨�)
5銆佽鐞冭泲鐧借鐥�(鐟炲+鍨�)
6銆佺溂閮ㄧ櫧鍖栫梾
7銆佺櫧鍖栫梾—鑰宠伨缍滃悎寰�
8銆� Wiskott-Aldrich缍滃悎寰�
9銆� Alport缍滃悎寰�
10銆侀噳璩�(zh矛)鐢熼暦涓嶅叏(鎴愮啛浣庝笅鍨�)
11銆侀噳璩�(zh矛)鐢熼暦涓嶅叏(鐧�(f膩)鑲蹭笉鑹瀷)
12銆侀伜鍌虫€т綆鑹茬礌鎬ц钵琛€
13銆佽绠¤璩�(zh矛)鐦abry鐥�
14銆佸厛澶╂€х櫧鍏�(n猫i)闅�
15銆佸皬鑵﹀叡婵熷け瑾�(di脿o)
16銆佸皬鑵﹀叡婵熷け瑾�(di脿o)
17銆佹摯鏁f€ц叇纭寲
18銆佽厯楠ㄨ倢钀庣府鐧�(Charcot-Marie-Tooth锛孋MT)
19銆佺劇鑴堢怠(lu貌)鑶滅櫏
20銆佽剤绲�(lu貌)鑶滆缍�(w菐ng)鑶滅梾璁�
21銆佽壊鐩�(缍犺壊绯诲垪鍨�)鍙�
22銆佽喗鍥婄簴缍寲鍜岃鍙嬬梾鏄仛绗笁浠h│绠″鍏掑父瑕嬬梾
23銆佽厧婧愭€у翱宕╃櫏
24銆佸翱宕╃櫏(绁炵稉(j墨ng)鍨傞珨鍨�)
25銆佸厛澶╂€ц鍖栦笉鑹�
26銆佸鑳氬堡鐧�(f膩)鑲蹭笉鍏�(鐒℃睏鍨�)
27銆丒hlers-Danlos缍滃悎寰�(绗琕椤炲瀷)
28銆侀潰鐢熸畺鐧�(f膩)鑲蹭笉鍏�(Aarskog缍滃悎寰�)
29銆佸眬鐏舵€х毊鑶氱櫦(f膩)鑲蹭笉鑹�(鑸嘪鏌撹壊楂旀湁闂�(gu膩n)鑱�(li谩n)鐨勯’鎬э紝灏嶇敺鎬ц€岃█鍙嚧姝�)
30銆佽憽钀勭硸-6-纾烽吀鑴矮閰剁己涔忕櫏
31銆佺硸鍘熻帛绌�(绗琕III椤炲瀷)
32銆佹€ц吅鐧�(f膩)鑲蹭笉鍏�(xy濂虫€ч鍨�)
33銆佹參鎬ц倝鑺借叓鐥�
34銆佽鍙嬬梾A
35銆佽鍙嬬梾B
36銆佽叇绌嶆按(涓叇姘寸鐙圭獎)
37銆佷綆纾烽吀琛€鎬т綕鍍傜梾
38銆侀瓪楸楃櫖
39銆佽壊绱犲け绡€(ji茅)鐧�(鑸嘪鏌撹壊楂旀湁闂�(gu膩n)鑱�(li谩n)鐨勯’鎬�锛屽皪鐢锋€ц€岃█鍙嚧姝�)
40銆並allmann缍滃悎寰�
41銆丼pinulosa姣涘泭瑙掑寲鐥�
42銆丩esch-Nyhan缍滃悎鐧�(娆¢粌鍢屽懁-槌ュ槍鍛�-纾烽吀鏍哥硸杞�(zhu菐n)绉婚叾缂轰箯)
43銆丩owe(鐪艰叇鑵�)缍滃悎鐧�
44銆佽缍�(w菐ng)鑶滈粌鏂戠嚐椁�(y菐ng)涓嶈壇
45銆丮enkes缍滃悎鐧�
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47.鏅哄姏閬茬珐(FRAXE鍨�)
48.鏅哄姏閬茬珐(MRXI鍨�)
49.灏忕溂鐧�(骞舵湁澶氱ó鐣稿舰)(Lenz缍滃悎鐧�)
50.榛忓绯栬帛绌嶇梾II(Hunter缍滃悎寰�)
51.鑲岀嚐椁�(y菐ng)涓嶈壇(Becker鍨�)
52.鑲岀嚐椁�(y菐ng)涓嶈壇(Duchenne鍨�)
53.鑲岀嚐椁�(y菐ng)涓嶈壇(Emery-Dreifuss鍨�)
54.鑲屽皬绠¤倢鐥�
55.鍏堝ぉ鎬ч潨姝㈡€у鐩茬櫏
56.Norrie’s(鍋囨€х缍�(j墨ng)鑶犺唱(zh矛)鐦�)
57.鐪肩悆闇囬~(鐪肩悆閬嬪嫊鐨勬垨鎶藉嫊鐨�)
58.槌ユ皑閰哥敳閰拌綁(zhu菐n)绉婚叾缂洪櫡鐧�(楂樻皑琛€鐧ョI椤炲瀷)
59.鍙�-闈�-鎸�(瓒�)缍滃悎鐧�(绗琁椤炲瀷)(鑸嘪鏌撹壊楂旀湁闂�(gu膩n)鑱�(li谩n)鐨勯’鎬�锛屽皪鐢锋€ц€岃█鍙嚧姝�)
60.鎰熻鎬ц伨鐧�(骞舵湁鍏辨繜澶辫(di脿o)鍜屽柂澶辫鍔�)
61.鎰熻鎬ц伨鐧�(DNFZ鍨�)
62銆佺7閰哥敇娌归吀婵€閰剁己涔�
63銆佺7閰告牳绯栫劍纾烽吀鍚堟垚閰剁己涔�
64銆� Reifenstein缍滃悎鐧�
65銆佽缍�(w菐ng)鑶滆壊绱犺畩鎬�
67銆佺棛鏀f€ч夯鐥�
68銆佽剨妞庤倢钀庣府
69銆侀伈鐧�(f膩)鎬ц剨妞庨楠肩櫦(f膩)鑲蹭笉鍏�
70銆佺潽涓稿コ鎬у寲缍滃悎寰�
71銆侀伜鍌虫€ц灏忔澘娓涘皯鐧�
72銆佺敳鐙€鑵虹礌-绲�(ji茅)鍚堢悆铔嬬櫧缂轰箯鎴栬畩绋�
73銆乆g琛€鍨嬬郴绲�(t菕ng)