Phenotypes for disease #02093 (GT2;BDPLT23 (thrombasthenia, Glanzmann, type 2), OMIM:619267)

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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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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
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!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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52 entries on 1 page. Showing entries 1 - 52.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000340345	Easy bleeding (HP:0011889), Subcutaneous hemorrhage (HP:0001933), Epistaxis (HP:0000421), Gingival bleeding(HP:0000225), Oral cavity bleeding (HP:0030140), Menorrhagia (HP:0000132); brother died 5y-oral cavity/nasal hemorrhage	Glanzmann’s thrombasthenia	GT2	Familial, autosomal recessive	14y	14y	00y01m	Subcutaneous hemorrhage (HP:0001933)	-	Zhenjiang Li	00451684
0000340358	see paper; ..., died 5y-oral cavity/nasal hemorrhage	Glanzmann's thrombasthenia	GT2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00451682
0000355648	see paper; ...	Glanzmann thrombasthenia	GT2	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00470752
0000355650	see paper; ...	Glanzmann's thrombasthenia	GT2	Familial, autosomal recessive	19y	-	-	-	-	Johan den Dunnen	00470754
0000355651	see paper; ...	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00470755
0000355652	see paper; ..., life-long bleeding tendency, failure of platelets to aggregate and bind fibrinogen in response to agonists such as ADP, collagen, or thrombin	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00470756
0000355654	see paper; ..., childhood severe hemorrhagic diathesis, epistaxis, gingival bleeding, menorrhagia, (regular transfusions whole blood and/or platelets	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	29y	-	-	-	-	Johan den Dunnen	00470762
0000355655	see paper; ..., lifelong epistaxis, gum bleeding, petechias, purpura; severe monorrhagia, anemia, need for whole-blood transfusion; normal coagulation assays; prolonged bleeding time; absent clot retraction; decreased glass bead retention; absent platelet aggregation in response to adenine diphosphate/pinephrine/collagen; normal initial slope of platelet aggregation in response to ristocetin, but with a diminished maximal extent.	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	20y	-	-	-	-	Johan den Dunnen	00470768
0000355656	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00470769
0000355657	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00470770
0000355658	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00470771
0000355659	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00470772
0000355660	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00470773
0000355661	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00470774
0000355665	see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	6y	-	-	-	-	Johan den Dunnen	00470778
0000355666	see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00470779
0000355667	see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00470780
0000355668	see paper; ..., normal platelet counts, severe bleeding since birth	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00470781
0000355669	see paper; ..., from birth mucocutaneous bleeding episodes, unprovoked bruising, copious menstrual hemorrhages	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	20y	-	-	-	-	Johan den Dunnen	00470782
0000355683	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	6y	-	-	-	-	Johan den Dunnen	00470796
0000355684	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	11y	-	-	-	-	Johan den Dunnen	00470797
0000355685	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	3y	-	-	-	-	Johan den Dunnen	00470798
0000355686	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	8y	-	-	-	-	Johan den Dunnen	00470799
0000355687	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	21y	-	-	-	-	Johan den Dunnen	00470800
0000355688	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	12y	-	-	-	-	Johan den Dunnen	00470801
0000355689	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	11y	-	-	-	-	Johan den Dunnen	00470802
0000355690	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	21y	-	-	-	-	Johan den Dunnen	00470803
0000355691	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	25y	-	-	-	-	Johan den Dunnen	00470804
0000355692	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	33y	-	-	-	-	Johan den Dunnen	00470805
0000355693	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	5y	-	-	-	-	Johan den Dunnen	00470806
0000355694	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	6y	-	-	-	-	Johan den Dunnen	00470807
0000355695	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	18y	-	-	-	-	Johan den Dunnen	00470808
0000355696	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	5y	-	-	-	-	Johan den Dunnen	00470809
0000355697	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	14y	-	-	-	-	Johan den Dunnen	00470810
0000355698	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	6y	-	-	-	-	Johan den Dunnen	00470811
0000355699	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	26y	-	-	-	-	Johan den Dunnen	00470812
0000355700	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	5y	-	-	-	-	Johan den Dunnen	00470813
0000355701	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	2y	-	-	-	-	Johan den Dunnen	00470814
0000355702	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00470815
0000355703	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	21y	-	-	-	-	Johan den Dunnen	00470816
0000355704	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	27y	-	-	-	-	Johan den Dunnen	00470817
0000355705	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	25y	-	-	-	-	Johan den Dunnen	00470818
0000355706	-	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	16y	-	-	-	-	Johan den Dunnen	00470819
0000355707	see paper; ..., moderate	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	3y	-	-	-	Johan den Dunnen	00470820
0000355708	see paper; ..., mild	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	16y	-	-	-	Johan den Dunnen	00470821
0000355709	see paper; ..., moderate	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	7y	-	-	-	Johan den Dunnen	00470822
0000355710	see paper; ..., mild	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	6y	-	-	-	Johan den Dunnen	00470823
0000355711	see paper; ..., mild	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	2y	-	-	-	Johan den Dunnen	00470824
0000355712	see paper; ..., moderate	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	1y	-	-	-	Johan den Dunnen	00470825
0000355713	see paper; ..., moderate	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	1y	-	-	-	Johan den Dunnen	00470826
0000355714	see paper; ..., severe	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	-	9y	-	-	-	Johan den Dunnen	00470827
0000355733	see paper; ..., lifelong bleeding history, primarily nasal/gingival mucosa, menses	Glanzmann thrombasthenia	GT2	Familial, autosomal recessive	24y	-	-	-	-	Johan den Dunnen	00470846

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