DISO2_YXZ Find_IDs Find_Terms Annotation
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created at 2017-12-21 11:07:44 UTC
updated at 2017-12-22 12:31:05 UTC
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520,470 entries
Label
Id
GUIBAUD-VAINSEL SYNDROME DISO:OMIM
Autoimmune thrombocytopenia DISO:OMIM
autoimmune thrombocytopenia DISO:CHV
Thrombocytopenia, autoimmune DISO:OMIM
Autoimmune thrombocytopenia DISO:MTH
Immune thrombocytopenia DISO:HPO
Autoimmune thrombocytopenia DISO:HPO
Hyperpigmented skin patches (face, neck, trunk, limbs, lip, oral mucosa, palms, and soles) DISO:OMIM
Caused by mutation in the CCM2 gene (CCM2, 607929.0001) DISO:OMIM
Caused by mutation in the myosin, heavy polypeptide-9, nonmuscle gene (MYH9, 160775.0006) DISO:OMIM
Females more severely affected than males DISO:OMIM
Hemoglobin F distribution | bld-ser-plas DISO:LNC
Midge stinging | bld-ser-plas DISO:LNC
Memory &or recall - none of above are recalled DISO:LNC
Calcified styloid process DISO:OMIM