Phenotypes for disease #01339 (fundus albipunctatus (retinitis punctata albescens (RPA)), OMIM:136880)

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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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110 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
0000066779	Fundus albipunctatus; cone dystrophy; white dots	-	-	Familial, autosomal recessive	-	-	22y	-	-	Raheel Qamar	00087957
0000066780	Fundus albipunctatus; cone dystrophy; white dots	-	-	Familial, autosomal recessive	-	-	19y	-	-	Raheel Qamar	00087958
0000066781	Fundus albipunctatus; cone dystrophy; numerous yellow-white flecks, bull's eye	-	-	Familial, autosomal recessive	-	-	47y	-	-	Raheel Qamar	00087960
0000066782	Fundus albipunctatus; macular dystrophy; white dots	-	-	Familial, autosomal recessive	-	-	56y	-	-	Raheel Qamar	00087969
0000066783	Fundus albipunctatus; macular dystrophy; white dots	-	-	Familial, autosomal recessive	-	-	51y	-	-	Raheel Qamar	00087970
0000066784	Fundus albipunctatus; cone dystrophy; white dots	-	-	Familial, autosomal recessive	-	-	23y	-	-	Raheel Qamar	00087978
0000066785	Fundus albipunctatus; cone dystrophy; white dots	-	-	Familial, autosomal recessive	-	-	23y	-	-	Raheel Qamar	00087979
0000066786	Fundus albipunctatus; fleck retina; various yellow white flecks on retina	-	-	Familial, autosomal recessive	-	-	3y	-	-	Raheel Qamar	00087985
0000066787	Fundus albipunctatus; cone dystrophy; white dots, bull's eye	-	-	Familial, autosomal recessive	-	-	74y	-	-	Raheel Qamar	00087993
0000066788	Fundus albipunctatus; macular dystrophy; white dots	-	-	Familial, autosomal recessive	-	-	70y	-	-	Raheel Qamar	00087994
0000066789	Fundus albipunctatus; macular dystrophy; light yellow discrete lesions	-	-	Familial, autosomal recessive	-	-	28y	-	-	Raheel Qamar	00088004
0000066790	Fundus albipunctatus; macular dystrophy; light yellow discrete lesions	-	-	Familial, autosomal recessive	-	-	?	-	-	Raheel Qamar	00088005
0000066791	Fundus albipunctatus; macular dystrophy; yellow white dots, foveal atrophy	-	-	Familial, autosomal recessive	-	-	9y	-	-	Raheel Qamar	00088010
0000066792	Fundus albipunctatus; macular dystrophy; white dots	-	-	Familial, autosomal recessive	-	-	9y	-	-	Raheel Qamar	00088011
0000067474	Deep white dots	-	-	Familial, autosomal recessive	-	-	19y	-	-	Raheel Qamar	00087953
0000067475	White dots, macular atrophy	-	-	Familial, autosomal recessive	-	-	8y	-	-	Raheel Qamar	00087954
0000067476	White dots	-	-	Familial, autosomal recessive	-	-	38y	-	-	Raheel Qamar	00087955
0000067477	Deep white dots, rpe degeneration	-	-	Familial, autosomal recessive	-	-	37y	-	-	Raheel Qamar	00087956
0000067478	Scattered white dots, macular degeneration	-	-	Familial, autosomal recessive	-	-	43y	-	-	Raheel Qamar	00087959
0000067479	White dots	-	-	Familial, autosomal recessive	-	-	20y	-	-	Raheel Qamar	00087961
0000067480	White dots	-	-	Familial, autosomal recessive	-	-	21y	-	-	Raheel Qamar	00087962
0000067481	White dots	-	-	Familial, autosomal recessive	-	-	54y	-	-	Raheel Qamar	00087963
0000067482	White dots	-	-	Familial, autosomal recessive	-	-	8y	-	-	Raheel Qamar	00087964
0000067483	White dots	-	-	Familial, autosomal recessive	-	-	38y	-	-	Raheel Qamar	00087965
0000067484	White dots	-	-	Familial, autosomal recessive	-	-	11y	-	-	Raheel Qamar	00087966
0000067485	White dots	-	-	Familial, autosomal recessive	-	-	15y	-	-	Raheel Qamar	00087967
0000067486	Deep white dots	-	-	Familial, autosomal recessive	-	-	43y	-	-	Raheel Qamar	00087968
0000067488	White dots, bull's eye	-	-	Familial, autosomal recessive	-	-	65y	-	-	Raheel Qamar	00087972
0000067489	Deep white dots, rpe degeneration	-	-	Familial, autosomal recessive	-	-	41y	-	-	Raheel Qamar	00087973
0000067490	No white dots	-	-	Familial, autosomal recessive	-	-	55y	-	-	Raheel Qamar	00087974
0000067491	White dots	-	-	Familial, autosomal recessive	-	-	19y	-	-	Raheel Qamar	00087975
0000067492	White dots	-	-	Familial, autosomal recessive	-	-	6y	-	-	Raheel Qamar	00087976
0000067493	White dots	-	-	Familial, autosomal recessive	-	-	53y	-	-	Raheel Qamar	00087977
0000067494	Deep white dots, rpe degeneration	-	-	Familial, autosomal recessive	-	-	18y	-	-	Raheel Qamar	00087980
0000067495	Deep white dots, rpe degeneration	-	-	Familial, autosomal recessive	-	-	36y	-	-	Raheel Qamar	00087981
0000067496	White dots	-	-	Familial, autosomal recessive	-	-	11y	-	-	Raheel Qamar	00087982
0000067497	Fading white dots, macular atrophy	-	-	Unknown	-	-	76y	-	-	Raheel Qamar	00087983
0000067498	White dots	-	-	Familial, autosomal recessive	-	-	6y	-	-	Raheel Qamar	00087984
0000067499	White dots	-	-	Familial, autosomal recessive	-	-	32y	-	-	Raheel Qamar	00087986
0000067500	Numerous yellow-white punctate deposits	-	-	Familial, autosomal recessive	-	-	43y	-	-	Raheel Qamar	00087987
0000067501	Numerous pale-yellow spots	-	-	Familial, autosomal recessive	-	-	49y	-	-	Raheel Qamar	00087988
0000067502	Numerous pale-yellow spots	-	-	Familial, autosomal recessive	-	-	?	-	-	Raheel Qamar	00087989
0000067503	Typical yellow-white dots	-	-	Familial, autosomal recessive	-	-	26y	-	-	Raheel Qamar	00087990
0000067504	Typical yellow-white dots	-	-	Familial, autosomal recessive	-	-	?	-	-	Raheel Qamar	00087991
0000067505	Multiple deep whitish flecks	-	-	Familial, autosomal recessive	-	-	7y	-	-	Raheel Qamar	00087992
0000067506	White dots, macular degeneration	-	-	Familial, autosomal recessive	-	-	45y	-	-	Raheel Qamar	00087995
0000067507	White dots, macular degeneration	-	-	Familial, autosomal recessive	-	-	?	-	-	Raheel Qamar	00087996
0000067508	White dots, macular degeneration	-	-	Familial, autosomal recessive	-	-	17y	-	-	Raheel Qamar	00087997
0000067509	White dots, macular degeneration	-	-	Familial, autosomal recessive	-	-	10y	-	-	Raheel Qamar	00087998
0000067510	White dots, macular degeneration	-	-	Familial, autosomal recessive	-	-	?	-	-	Raheel Qamar	00087999
0000067511	Light yellow spots	-	-	Familial, autosomal recessive	-	-	?	-	-	Raheel Qamar	00088000
0000067512	Light yellow spots	-	-	Familial, autosomal recessive	-	-	?	-	-	Raheel Qamar	00088001
0000067513	Light yellow spots	-	-	Familial, autosomal recessive	-	-	45y	-	-	Raheel Qamar	00088002
0000067514	Deep white dots and flecks, rpe degeneration	-	-	Familial, autosomal recessive	-	-	26y	-	-	Raheel Qamar	00088003
0000067515	White dots	-	-	Familial, autosomal recessive	-	-	18y	-	-	Raheel Qamar	00088006
0000067516	White dots	-	-	Familial, autosomal recessive	-	-	?	-	-	Raheel Qamar	00088007
0000067517	White dots	-	-	Familial, autosomal recessive	-	-	18y	-	-	Raheel Qamar	00088008
0000067518	White dots	-	-	Familial, autosomal recessive	-	-	11y	-	-	Raheel Qamar	00088009
0000067519	White dots	-	-	Familial, autosomal recessive	-	-	35y	-	-	Raheel Qamar	00088012
0000067520	White dots, macular degeneration	-	-	Familial, autosomal recessive	-	-	35y	-	-	Raheel Qamar	00088013
0000067521	White dots, macular degeneration	-	-	Familial, autosomal recessive	-	-	-	-	-	Raheel Qamar	00088014
0000067522	Light yellow spots	-	-	Familial, autosomal recessive	-	-	55y	-	-	Raheel Qamar	00088015
0000067523	White punctation and bull's eye	-	-	Familial, autosomal recessive	-	-	63y	-	-	Raheel Qamar	00088016
0000067524	Distinct macular dystrophy and inconspicuous white dots	-	-	Familial, autosomal recessive	-	-	59y	-	-	Raheel Qamar	00088017
0000067525	White punctation and bull's eye	-	-	Familial, autosomal recessive	-	-	58y	-	-	Raheel Qamar	00088018
0000067526	Macular dystrophy and white dots	-	-	Familial, autosomal recessive	-	-	48y	-	-	Raheel Qamar	00088019
0000067527	White dots, night blindness, photophobia	-	-	Familial, autosomal recessive	-	-	36y	-	-	Raheel Qamar	00088020
0000067528	White dots, night blindness	-	-	Familial, autosomal recessive	-	-	57y	-	-	Raheel Qamar	00088021
0000067529	White dots, night blindness	-	-	Familial, autosomal recessive	-	-	55y	-	-	Raheel Qamar	00088022
0000067530	White dots, night blindness	-	-	Familial, autosomal recessive	-	-	48y	-	-	Raheel Qamar	00088023
0000067531	White dots, night blindness	-	-	Familial, autosomal recessive	-	-	45y	-	-	Raheel Qamar	00088024
0000067532	White dots, night blindness	-	-	Familial, autosomal recessive	-	-	40y	-	-	Raheel Qamar	00088025
0000067533	White dots	-	-	Familial, autosomal recessive	-	-	18y	-	-	Raheel Qamar	00088026
0000067534	White dots	-	-	Familial, autosomal recessive	-	-	15y	-	-	Raheel Qamar	00088027
0000067535	White dots	-	-	Familial, autosomal recessive	-	-	66y	-	-	Raheel Qamar	00088028
0000067536	White dots	-	-	Familial, autosomal recessive	-	-	18y	-	-	Raheel Qamar	00088029
0000067537	White dots	-	-	Familial, autosomal recessive	-	-	15y	-	-	Raheel Qamar	00088030
0000067538	White dots	-	-	Familial, autosomal recessive	-	-	15y	-	-	Raheel Qamar	00088031
0000067539	White dots	-	-	Familial, autosomal recessive	-	-	15y	-	-	Raheel Qamar	00088032
0000067540	White dots	-	-	Familial, autosomal recessive	-	-	12y	-	-	Raheel Qamar	00088033
0000067541	White dots	-	-	Familial, autosomal recessive	-	-	53y	-	-	Raheel Qamar	00088034
0000067542	White dots	-	-	Familial, autosomal recessive	-	-	41y	-	-	Raheel Qamar	00088035
0000067543	White dots	-	-	Familial, autosomal recessive	-	-	35y	-	-	Raheel Qamar	00088036
0000067544	White dots	-	-	Familial, autosomal recessive	-	-	40y	-	-	Raheel Qamar	00088037
0000067545	White dots	-	-	Unknown	-	-	50y	-	-	Raheel Qamar	00088038
0000067546	White dots	-	-	Unknown	-	-	32y	-	-	Raheel Qamar	00088039
0000067547	White dots	-	-	Unknown	-	-	50y	-	-	Raheel Qamar	00088040
0000067548	White dots	-	-	Unknown	-	-	39y	-	-	Raheel Qamar	00088041
0000067549	White dots	-	-	Unknown	-	-	55y	-	-	Raheel Qamar	00088042
0000067550	White dots	-	-	Unknown	-	-	32y	-	-	Raheel Qamar	00088043
0000067551	White dots	-	-	Unknown	-	-	19y	-	-	Raheel Qamar	00088044
0000067552	White dots	-	-	Unknown	-	-	55y	-	-	Raheel Qamar	00088045
0000067553	White dots	-	-	Unknown	-	-	29y	-	-	Raheel Qamar	00088046
0000067554	White dots	-	-	Unknown	-	-	22y	-	-	Raheel Qamar	00088047
0000067555	White dots	-	-	Unknown	-	-	23y	-	-	Raheel Qamar	00088048
0000067556	White dots	-	-	Unknown	-	-	18y	-	-	Raheel Qamar	00088049
0000067557	White dots	-	-	Unknown	-	-	10y	-	-	Raheel Qamar	00088050
0000067558	White dots	-	-	Unknown	-	-	23y	-	-	Raheel Qamar	00088051
0000067559	White dots	-	-	Unknown	-	-	20y	-	-	Raheel Qamar	00088052
0000067560	White dots	-	-	Unknown	-	-	24y	-	-	Raheel Qamar	00088053

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Global Variome shared LOVD

GPR112 (G protein-coupled receptor 112)