Phenotypes for disease #03186 (CCDS2;GAMTD (deficiency, cerebral creatine, syndrome, type 2 (CCDS2, guanidinoacetate methyltransferase deficiency (GAMTD))), OMIM:612736)

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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

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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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
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=""	Text	="p.0"	all entries exactly matching 'p.0'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	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
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!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
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>=	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.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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101 entries on 2 pages. Showing entries 1 - 100.

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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
0000060547	Cerebral creatine deficiency syndrome 2 (OMIM:612736)	-	-	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00080978
0000144763	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184633
0000144764	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184634
0000144767	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184637
0000144768	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184638
0000144769	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184639
0000144772	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184642
0000144773	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184643
0000144777	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184647
0000144778	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184648
0000144781	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184651
0000144783	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184653
0000144790	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184660
0000144791	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184661
0000144792	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184662
0000144795	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184665
0000144796	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184666
0000144798	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184668
0000144799	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184669
0000144802	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184672
0000144803	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184673
0000144806	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184676
0000144807	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184677
0000144810	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184680
0000144811	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184681
0000144814	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184684
0000144815	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184685
0000144819	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184689
0000144820	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184690
0000144827	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184697
0000144828	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184698
0000144831	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184701
0000144834	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184704
0000144835	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184705
0000144838	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184708
0000144840	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184710
0000144843	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184713
0000144844	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184714
0000144847	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184717
0000144852	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184722
0000144854	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184724
0000144855	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184725
0000144856	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184726
0000144857	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184727
0000144858	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184728
0000144859	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184729
0000144862	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184732
0000144863	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184733
0000144864	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184734
0000144867	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184737
0000144868	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184738
0000144869	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184739
0000144870	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184740
0000144876	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184746
0000144877	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184747
0000144880	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184750
0000144883	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184753
0000144884	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184754
0000144887	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184757
0000144890	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184760
0000144893	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184763
0000144896	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184766
0000144899	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184769
0000144900	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184770
0000144901	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184771
0000144902	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184772
0000144903	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184773
0000144904	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184774
0000144905	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184775
0000144906	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184776
0000144909	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184779
0000144910	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184780
0000144913	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184783
0000144914	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184784
0000144915	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184785
0000144916	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184786
0000144917	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184787
0000144918	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184788
0000144919	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184789
0000144920	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184790
0000144921	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184791
0000144922	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184792
0000144923	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184793
0000144924	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184794
0000144925	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184795
0000144926	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184796
0000144927	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184797
0000144928	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184798
0000144931	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184801
0000144934	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184804
0000144935	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184805
0000144938	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184808
0000144949	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184819
0000144950	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184820
0000144951	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184821
0000144952	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184822
0000144953	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184823
0000144954	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184824
0000144955	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184825
0000144956	-	GAMT deficiency	CCDS-2	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184826

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