Phenotypes for disease #01951 (MPOD (myeloperoxidase deficiency (MPOD)), OMIM:254600)

24 entries on 1 page. Showing entries 1 - 24.
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Diagnosis/Definite     

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Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

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Individual ID     
0000233089 - complete myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307289
0000233090 - complete myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307290
0000233091 - partial myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307291
0000233092 - complete myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307292
0000233093 - partial myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307293
0000233094 - partial myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307294
0000233095 - complete myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307295
0000233096 - complete myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307296
0000233097 - partial myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307297
0000233098 - complete myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307298
0000233099 - partial myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307299
0000233100 - partial myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307300
0000233101 - complete myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307301
0000233102 - partial myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307302
0000233103 - complete myeloperoxidase deficiency deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307303
0000233120 absence of peroxidase activity in neutrophils myeloperoxidase deficiency MPOD Familial, autosomal recessive - - - - - Johan den Dunnen 00307320
0000233121 see paper; ..., complete absence MPO activity in neutrophils myeloperoxidase deficiency MPOD Unknown - - - - - Johan den Dunnen 00307321
0000233122 - complete myeloperoxidase deficiency - Familial, autosomal recessive - - - - - Johan den Dunnen 00307322
0000233123 complete myeloperoxidase deficiencysee paper; ..., complete myeloperoxidase deficiency - Familial, autosomal recessive - - - - - Johan den Dunnen 00307323
0000233124 complete MPO deficiency, signs of obstructive pulmonary disease, although no history of recurrent infections or medication known to interfere with MPO activity present or used complete myeloperoxidase deficiency MPOD Familial, autosomal recessive 39y - - - - Johan den Dunnen 00307325
0000233125 see paper; ... complete myeloperoxidase deficiency MPOD Familial, autosomal recessive 28y - - - - Johan den Dunnen 00307326
0000233126 - complete myeloperoxidase deficiency MPOD Familial, autosomal recessive 65y - - - - Johan den Dunnen 00307327
0000235148 see paper; ... vitelliform macular dystrophy - Familial, autosomal dominant - - - - - Johan den Dunnen 00309834
0000235149 see paper; ... vitelliform macular dystrophy - Familial, autosomal dominant - - - - - Johan den Dunnen 00309835
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