All diseases

2 entries on 1 page. Showing entries 1 - 2.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00969 AAAS achalasia-addisonianism-alacrimia syndrome 231550 AR 20 20 AAAS, TMEM48 cerebellum adrenal insufficiency, dysphagia/achalasia, no hyporeflexia, developmental delay, alacrima
07104 AAAS2 achalasia-addisonianism-alacrimia syndrome, type 2 - AR - - TMEM48 - no adrenal insufficiency, dysphagia/achalasia, polyneuropathy, hyporeflexia, developmental delay, alacrima, no postural hypotension, no sexual dysfunction
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