Phenotypes for disease #06973 (CAGI (calcification, arterial, generalized, infancy))

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Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

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

How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
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'
!=""	Text	!=""	all entries with this field not empty
!=""	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
>	Date	>2020-06	all entries after June, 2020
>=	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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94 entries on 1 page. Showing entries 1 - 94.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000311026	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419745
0000311027	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419746
0000311028	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419747
0000311029	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419748
0000311030	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419749
0000311031	generalized arterial calcification of infancy, hypophosphatemic rickets	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419750
0000311032	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419751
0000311033	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419752
0000311034	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419753
0000311035	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419754
0000311036	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419755
0000311037	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419756
0000311040	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419759
0000311041	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419760
0000311042	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419761
0000311043	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	infantile onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419762
0000311044	pseudoxanthoma elasticum, generalized arterial calcification of infancy	-	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419763
0000311045	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419764
0000311049	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419768
0000311050	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419769
0000311051	generalized arterial calcification of infancy, pseudoxanthoma elasticum, Creutzfeldt-Jakob disease	-	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419770
0000311052	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419771
0000311053	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419772
0000311054	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419773
0000311055	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419774
0000311056	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419775
0000311057	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419776
0000311058	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419777
0000311059	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419778
0000311060	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419779
0000311061	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419780
0000311062	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419781
0000311064	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419783
0000311065	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419784
0000311066	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419785
0000311069	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419788
0000311070	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419789
0000311071	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419790
0000311072	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419791
0000311073	generalized arterial calcification of infancy, hypophosphatemic rickets	-	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419792
0000311074	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419793
0000311075	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419794
0000311081	generalized arterial calcification of infancy, Loeys-Dietz syndrome, hypophosphatemic rickets, pseudoxanthoma elasticum	-	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419800
0000311082	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419801
0000311083	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419802
0000311084	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419803
0000311088	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419807
0000311089	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	infantile onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419808
0000311090	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	childhood onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419809
0000311091	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419810
0000311092	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419811
0000311093	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419812
0000311094	generalized arterial calcification of infancy, Brugada syndrome	-	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419813
0000311095	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419814
0000311096	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419815
0000311097	generalized arterial calcification of infancy, hypophosphatemic rickets, phenylketonuria	-	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419816
0000311098	generalized arterial calcification of infancy, hypophosphatemic rickets, pseudoxanthoma elasticum	-	childhood onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419817
0000311100	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419819
0000311102	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419821
0000311104	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419823
0000311105	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419824
0000311106	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419825
0000311107	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419826
0000311108	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419827
0000311109	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	infantile onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419828
0000311110	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419829
0000311111	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419830
0000311112	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419831
0000311113	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419832
0000311114	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419833
0000311115	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	infantile onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419834
0000311116	generalized arterial calcification of infancy	GACI1	infantile onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419835
0000311117	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419836
0000311118	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419837
0000311119	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419838
0000311120	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419839
0000311121	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419840
0000311125	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419844
0000311126	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419845
0000311127	generalized arterial calcification of infancy	GACI1	infantile onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419846
0000311128	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419847
0000311129	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419848
0000311130	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419849
0000311131	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419850
0000311132	generalized arterial calcification of infancy, hypophosphatemic rickets	GACI1;ARHR2	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419851
0000311133	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419852
0000311134	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419853
0000311135	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419854
0000311136	generalized arterial calcification of infancy	GACI1	infantile onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419855
0000311137	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419856
0000311140	generalized arterial calcification of infancy	GACI1	neonatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419859
0000311142	generalized arterial calcification of infancy	GACI1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419861
0000311144	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419863
0000311145	generalized arterial calcification of infancy	GACI1	antenatal onset	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00419864

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Global Variome shared LOVD

HOXC13 (homeobox C13)