Phenotypes for disease #04230 (ACHM (achromatopsia (ACHM)))

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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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^	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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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
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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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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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104 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
0000082889	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Marta de Castro-Miró	00104998
0000082905	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Marta de Castro-Miró	00105013
0000138586	see paper; ..., total colorblindness, photophobia, nystagmus, 20/200 visual acuity, normal-appearing retina; ECG slightly lower than normal rod function, no detectable cone response	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173732
0000138587	achromatopsia, total colourblindness, photophobia, nystagmus, 20/200 visual acuity, normal-appearing retina, healthy, normal intelligence; electroretinography older brother revealed normal rod response, no cone response	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173733
0000138590	horizontal nystagmus, marked photophobia; normal electroretinographic rod response, no detectable cone response	achromatopsia	ACHM-3	Familial, autosomal recessive	01y	-	-	-	-	Johan den Dunnen	00173737
0000138591	-	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173738
0000138592	-	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173739
0000138593	-	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173740
0000138594	-	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173741
0000138595	-	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173742
0000138596	-	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173743
0000138597	-	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173744
0000138598	-	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173745
0000138599	-	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173746
0000138600	-	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173747
0000138601	-	achromatopsia	ACHM-3	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00173748
0000273159	HP:0000613, HP:0000639, HP:0000007, HP:0011516	achromatopsia (ACHM)	-	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378012
0000273197	HP:0001141, HP:0000613, HP:0001129, HP:0000639, HP:0000551, HP:0000007, HP:0011516	achromatopsia (ACHM)	-	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378055
0000273487	HP:0030515, HP:0000613, HP:0001129, HP:0000007, HP:0000639, HP:0011516	achromatopsia (ACHM)	-	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379643
0000273527	HP:0030515, HP:0000613, HP:0001129, HP:0000639, HP:0000551, HP:0000007, HP:0011516	achromatopsia (ACHM)	-	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379683
0000273530	HP:0030515, HP:0000613, HP:0001129, HP:0000639, HP:0000007, HP:0011516, HP:0000551	achromatopsia (ACHM)	-	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379686
0000273622	HP:0001141, HP:0000613, HP:0001129, HP:0000639, HP:0000551, HP:0011516	achromatopsia (ACHM)	-	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379768
0000340340	HP:0000478, HP:0000613, HP:0000252, HP:0000271	achromatopsia	ALMS	Isolated (sporadic)	-	-	-	-	-	Marketa Wayhelova	00451680
0000343528	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454931
0000343529	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454932
0000343530	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454933
0000343531	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454934
0000343532	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454935
0000343533	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454936
0000343534	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454937
0000343535	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454938
0000343536	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454939
0000343537	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454940
0000343538	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454941
0000343539	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454942
0000343540	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454943
0000343541	see paper; ...	achromatopsia	ACHM2	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454944
0000343542	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454945
0000343543	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454946
0000343544	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454947
0000343545	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454948
0000343546	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454949
0000343547	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454950
0000343548	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454951
0000343549	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454952
0000343550	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454953
0000343551	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454954
0000343552	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454955
0000343553	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454956
0000343554	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454957
0000343555	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454958
0000343556	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454959
0000343557	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454960
0000343558	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454961
0000343559	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454962
0000343560	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454963
0000343561	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454964
0000343562	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454965
0000343563	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454966
0000343564	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454967
0000343565	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454968
0000343566	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454969
0000343567	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454970
0000343568	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454971
0000343569	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454972
0000343570	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454973
0000343571	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454974
0000343572	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454975
0000343573	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454976
0000343574	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454977
0000343575	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454978
0000343576	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454979
0000343577	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454980
0000343578	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454981
0000343579	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454982
0000343580	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454983
0000343581	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454984
0000343582	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454985
0000343583	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454986
0000343584	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454987
0000343585	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454988
0000343586	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454989
0000343587	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454990
0000343588	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454991
0000343589	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454992
0000343590	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454993
0000343591	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454994
0000343592	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454995
0000343593	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454996
0000343594	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454997
0000343595	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454998
0000343596	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00454999
0000343597	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00455000
0000343598	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00455001
0000343599	see paper; ...	achromatopsia	ACHM3	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00455002
0000343600	see paper; ...	achromatopsia	COD4	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00455003
0000343601	see paper; ...	achromatopsia	COD4	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00455004
0000343602	see paper; ...	achromatopsia	COD4	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00455005
0000343603	see paper; ...	achromatopsia	COD4	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00455006
0000343604	see paper; ...	achromatopsia	RCD3A	Familial, autosomal recessive	-	-	-	-	-	Susanne Kohl	00455007

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Global Variome shared LOVD

THRSP (thyroid hormone responsive)