Malaysian Node of the Human Variome Project Database
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Phenotypes for disease #00142 (GS (Griscelli Syndrome), OMIM:607624)
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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.
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 dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Complex
How to query this table
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Operator
Column type
Example
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Text
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space
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Text
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Text
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Ser)$
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=""
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!=""
Text
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combination
Text
*|Ter !fs
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Date
2020
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Date
2020-03|2020-04
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Date
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Date
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Date
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Date
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Numeric
23|24
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Numeric
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Numeric
<23
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Numeric
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>
Numeric
>23
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Numeric
>=23
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combination
Numeric
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Example
Matches
Asian
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Asian !Caucasian
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Asian|African !Caucasian
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"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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Phenotype ID
Phenotype details
Inheritance
Owner
Individual ID
0000000285
fair-skinned with silvery hair and had hepatosplenomegaly on abdominal palpation. He is presented with HLH and partial albinism. Micrograph of hair follicle demonstrating characteristic abnormal clumping of melanin pigment along the shaft.
-
Nur Aisyah Athirah
00000754
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