Phenotypes for disease #04211 (RPar (retinitis pigmentosa, autosomal recessive (RPar)))

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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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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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467 entries on 5 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
0000026292	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Christina Zeitz	00032863
0000026293	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	>12y	-	-	Christina Zeitz	00032864
0000026294	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	>17y	-	-	Christina Zeitz	00032865
0000026297	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Christina Zeitz	00032868
0000026298	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Christina Zeitz	00032869
0000026328	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Christina Zeitz	00032899
0000026332	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Christina Zeitz	00032903
0000026334	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Christina Zeitz	00032905
0000026335	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Christina Zeitz	00032906
0000026336	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Christina Zeitz	00032907
0000026470	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00033041
0000026471	retinal telangiectasia	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00033042
0000026496	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00033067
0000026498	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00033069
0000026499	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00033070
0000026500	retinal telangiectasia	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00033071
0000026506	retinal telangiectasia	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00033077
0000026607	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00033178
0000027770	adult onset RP, night blind, field of vision reduced to <10 degrees	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00034374
0000027772	adult onset RP	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00034375
0000028874	?	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	?	-	Frans Cremers	00038331
0000028875	?	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	?	-	Frans Cremers	00038332
0000028876	?	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	?	-	Frans Cremers	00038333
0000028877	?	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	?	-	Frans Cremers	00038334
0000028878	?	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	?	-	Frans Cremers	00038335
0000046243	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059751
0000046244	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059752
0000046245	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059753
0000046246	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059754
0000046248	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059756
0000046249	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059757
0000046252	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059760
0000046253	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059761
0000046254	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059762
0000046255	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059763
0000046256	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059764
0000046257	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059765
0000046258	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059766
0000046259	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059767
0000046260	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059768
0000046261	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059769
0000046262	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059770
0000046263	-	retinitis pigmentosa	-	Familial	-	-	-	-	-	Jacopo Celli	00059771
0000046264	-	retinitis pigmentosa	-	Familial	-	-	-	-	-	Jacopo Celli	00059772
0000046265	-	retinitis pigmentosa	-	Familial	-	-	-	-	-	Jacopo Celli	00059773
0000046267	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059775
0000046268	-	retinitis pigmentosa	-	Familial	-	-	-	-	-	Jacopo Celli	00059776
0000046269	-	retinitis pigmentosa	-	Familial	-	-	-	-	-	Jacopo Celli	00059777
0000046270	-	retinitis pigmentosa	-	Familial	-	-	-	-	-	Jacopo Celli	00059778
0000046375	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Frans Cremers	00059883
0000046376	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Frans Cremers	00059884
0000046377	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Frans Cremers	00059885
0000046421	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059929
0000046422	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059930
0000046423	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059931
0000046424	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059932
0000046425	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059933
0000046426	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059934
0000046427	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059935
0000046428	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059936
0000046429	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059937
0000046430	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059938
0000046431	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059939
0000046432	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059940
0000046433	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059941
0000046434	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059942
0000046435	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059943
0000046436	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059946
0000046437	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059947
0000046438	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Jacopo Celli	00059948
0000061521	HP:0001133; HP:0007737; HP:0000543	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Cristina Méndez	00081894
0000066710	HP:0001133; HP:0007737; HP:0000543	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	-	-	Cristina Méndez	00087127
0000067355	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	31y	-	-	Raheel Qamar	00087824
0000067356	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	-	-	Raheel Qamar	00087825
0000067358	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	-	-	Raheel Qamar	00087828
0000067360	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	3y	Poor dark adaptation, Visual field defects and Color vision alterations,Visual field constriction and visual acuity impairment	-	Raheel Qamar	00087830
0000067402	Bilateral macular atrophy,pigment deposits in retinal periphery,attenuated retinal vessels and pale optic disks	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	54y	night blindness and visual field defects	-	Raheel Qamar	00087876
0000067403	Disorganized aspect, many bone spicule-shaped yellowish pigment deposits in mid periphery , visible retinal vessels and waxy optic disks	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	42y	night blindness and visual field defects	-	Raheel Qamar	00087877
0000067405	Rpe degeneration, arterial narrowing, pigmentary deposits and disc pallor, cellophane reflexes	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	1y	Decreased day and night vision, decreased night mobility	-	Raheel Qamar	00087879
0000067406	Rpe degeneration, arterial narrowing, pigmentary deposits and disc pallor, cellophane reflexes	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	8y	Decreased day and night vision, decreased night mobility	-	Raheel Qamar	00087880
0000067408	Attenuated retinal vessels, pigment deposit	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Night Blindness,Progressive loss of Peripheral Vision,Decrease Visual Acuity	-	Raheel Qamar	00087882
0000067409	Attenuated retinal vessels, pigment deposit	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Night Blindness,Progressive loss of Peripheral Vision,Decrease Visual Acuity	-	Raheel Qamar	00087883
0000067410	Attenuated retinal vessels, pigment deposit	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Night Blindness,Progressive loss of Peripheral Vision,Decrease Visual Acuity	-	Raheel Qamar	00087884
0000067411	Attenuated retinal vessels, pigment deposit	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Night Blindness,Progressive loss of Peripheral Vision,Decrease Visual Acuity	-	Raheel Qamar	00087885
0000067413	Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	-	Loss of Night and Daytime Vision	-	Raheel Qamar	00087887
0000067414	Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Night Blindness,Progressive loss of Peripheral Vision,Decrease Visual Acuity	-	Raheel Qamar	00087888
0000067415	Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Night Blindness,Progressive loss of Peripheral Vision,Decrease Visual Acuity	-	Raheel Qamar	00087889
0000067416	Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Night Blindness,Progressive loss of Peripheral Vision,Decrease Visual Acuity	-	Raheel Qamar	00087890
0000067417	Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Night Blindness,Progressive loss of Peripheral Vision,Decrease Visual Acuity	-	Raheel Qamar	00087891
0000067418	Attenuated retinal vessels, minimal pigmented retinopathy with temporal disc pallor and annuli of yellow deposits on the macula, bulles eye appearance of macula, myopia	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	20y	Show myopic refractive errors,Poor dark adaptation, Visual field defect.	-	Raheel Qamar	00087892
0000067419	Attenuated retinal vessels, minimal pigmented retinopathy with temporal disc pallor and annuli of yellow deposits on the macula, bulles eye appearance of macula, myopia	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Show myopic refractive errors,Poor dark adaptation, Visual field defect.	-	Raheel Qamar	00087893
0000067422	Macular degeneration,pigment migration, bonecorpuscular pigmentation, vitreous opacities and vitreous pigments,diffuse disc pallor	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	22y	Night Blindness, Progressive reduce Vision	-	Raheel Qamar	00087896
0000067425	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	31y	-	-	Raheel Qamar	00087899
0000067426	-	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	-	-	Raheel Qamar	00087900
0000067429	Nustagmus,low visual acuity,nyclatopia, retinal dystrophy	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Nystagmus, low visual acquity,nyclatopic since infancy	-	Raheel Qamar	00087905
0000067430	Nustagmus,low visual acuity,nyclatopia, retinal dystrophy	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Nystagmus, low visual acquity,nyclatopic since infancy	-	Raheel Qamar	00087906
0000067431	Nustagmus,low visual acuity,nyclatopia, retinal dystrophy	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Nystagmus, low visual acquity,nyclatopic since infancy	-	Raheel Qamar	00087907
0000067432	Nustagmus,low visual acuity,nyclatopia, retinal dystrophy	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Nystagmus, low visual acquity,nyclatopic since infancy	-	Raheel Qamar	00087908
0000067433	Nustagmus,low visual acuity,nyclatopia, retinal dystrophy	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	?	Nystagmus, low visual acquity,nyclatopic since infancy	-	Raheel Qamar	00087909
0000067434	Incomplete ring formation, bone spicules absent	retinitis pigmentosa	-	Familial, autosomal recessive	-	-	19y	Loss of Night and Daytime Vision	-	Raheel Qamar	00087910

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Global Variome shared LOVD

SRRM2 (serine/arginine repetitive matrix 2)