Global Variome shared LOVD
GPR126 (G protein-coupled receptor 126)
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Phenotypes for disease #01951 (MPOD (myeloperoxidase deficiency (MPOD)), OMIM:254600)
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Protein
: result from protein staining
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Date
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24 entries on 1 page. Showing entries 1 - 24.
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How to query
Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Protein
Owner
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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