Phenotypes for disease #00112 (RP (retinitis pigmentosa (RP)), OMIM:268000)

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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

Protein: result from protein staining

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

897 entries on 9 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9		Next ›	Last »

Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000001879	-	-	-	Isolated (sporadic)	-	-	-	-	-	Marcel Nelen	00003028
0000001935	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Laura Pearce	00003093
0000015025	-	-	ataxia, retinal dystrophy, neuropathy	Familial, autosomal recessive	-	-	-	-	-	Jill Urquhart	00016423
0000015164	-	-	characteristic arRP with hypopigmented macular atrophy and bear track changes; bilateral congenital subclinical renal cysts; mild cognitive impairment	Familial, autosomal recessive	-	-	-	-	-	Heleen Arts	00016548
0000015171	-	-	characteristic arRP findings with hypopigmented macular atrophy and 'bear track' changes	Isolated (sporadic)	-	-	-	-	-	Heleen Arts	00016542
0000046279	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Leen Abu Safieh	00059787
0000046280	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Leen Abu Safieh	00059788
0000046281	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Leen Abu Safieh	00059789
0000046283	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Leen Abu Safieh	00059791
0000046284	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Leen Abu Safieh	00059792
0000046285	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Leen Abu Safieh	00059793
0000046289	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Alice Davidson	00059797
0000046389	-	-	-	Isolated (sporadic)	-	-	-	-	-	Ivo F.A.C. Fokkema	00059897
0000046417	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Marta de Castro-Miró	00059925
0000046601	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Alice Davidson	00060111
0000046602	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Alice Davidson	00060112
0000046603	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Alice Davidson	00060113
0000046604	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Alice Davidson	00060114
0000046605	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Alice Davidson	00060115
0000046606	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Alice Davidson	00060116
0000046607	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Alice Davidson	00060117
0000046698	-	-	-	Familial, autosomal dominant	-	-	-	-	-	Marcel Nelen	00060208
0000046699	-	-	-	Familial, autosomal dominant	-	-	-	-	-	Marcel Nelen	00060209
0000121746	Myoclonus-ataxia; Corticobasal Syndrome	-	-	Familial, autosomal dominant	61y	-	-	-	-	Marc Cruts	00149330
0000138757	retinitis pigmentosa	RP-38	-	Familial, autosomal recessive	-	-	-	-	-	Fei Wang	00001795
0000138758	retinitis pigmentosa	RP-38	-	Familial, autosomal recessive	-	-	-	-	-	Fei Wang	00001796
0000257472	-	-	cataract and nystagmus	Familial, autosomal recessive	-	-	-	-	-	Zeinab Fadaie	00362059
0000257475	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Zeinab Fadaie	00362061
0000257476	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Zeinab Fadaie	00362062
0000273162	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378015
0000273167	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378021
0000273171	retinitis pigmentosa (RP)	-	-	Familial, X-linked recessive	-	-	-	-	-	Jinu Han	00378026
0000273173	retinitis pigmentosa (RP)	-	HP:0032122, HP:0000662, HP:0001139, HP:0000006, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00378027
0000273176	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378030
0000273177	retinitis pigmentosa (RP)	-	HP:0030515, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378031
0000273180	retinitis pigmentosa (RP)	-	HP:0000662, HP:0000613, HP:0001133, HP:0001417, HP:0000510	Familial, X-linked recessive	-	-	-	-	-	Jinu Han	00378034
0000273191	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378049
0000273192	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378050
0000273193	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378051
0000273194	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378052
0000273195	retinitis pigmentosa (RP)	-	HP:0001141, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378053
0000273196	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000613, HP:0001133, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00378054
0000273199	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378057
0000273200	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000006, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00378058
0000273207	retinitis pigmentosa (RP)	-	HP:0032122, HP:0000662, HP:0000613, HP:0001133, HP:0000551, HP:0001288, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378065
0000273209	retinitis pigmentosa (RP)	-	HP:0000662, HP:0000613, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378067
0000273212	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000551, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00378070
0000273407	retinitis pigmentosa (RP)	-	HP:0000662, HP:0000613, HP:0001133, HP:0000551, HP:0001288, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379534
0000273408	retinitis pigmentosa (RP)	-	HP:0000613, HP:0001133, HP:0000551, HP:0003745, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379535
0000273410	retinitis pigmentosa (RP)	-	HP:0000662, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379537
0000273412	retinitis pigmentosa (RP)	-	HP:0000662, HP:0000613, HP:0001417, HP:0000510, HP:0001133	Familial, X-linked dominant	-	-	-	-	-	Jinu Han	00379539
0000273413	retinitis pigmentosa (RP)	-	HP:0000662, HP:0000613, HP:0003745, HP:0000510, HP:0001133	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00379540
0000273416	retinitis pigmentosa (RP)	-	HP:0000662, HP:0000613, HP:0001133, HP:0032037, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379543
0000273417	retinitis pigmentosa (RP)	-	HP:0001133, HP:0000639, HP:0001141, HP:0001417, HP:0000510	Familial, X-linked dominant	-	-	-	-	-	Jinu Han	00379544
0000273418	retinitis pigmentosa (RP)	-	HP:0000662, HP:0000613, HP:0001133, HP:0032037, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379545
0000273420	retinitis pigmentosa (RP)	-	HP:0000662, HP:0000613, HP:0001133, HP:0032122, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379547
0000273422	retinitis pigmentosa (RP)	-	HP:0000662, HP:0001133, HP:0032037, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379549
0000273423	retinitis pigmentosa (RP)	-	HP:0000662, HP:0000613, HP:0001133, HP:0032037, HP:0000006, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00379550
0000273477	retinitis pigmentosa (RP)	-	HP:0000662, HP:0000613, HP:0001133, HP:0032037, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379633
0000273479	retinitis pigmentosa (RP)	-	HP:0000662, HP:0001123, HP:0001133, HP:0032122, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379635
0000273481	retinitis pigmentosa (RP)	-	HP:0000662, HP:0001123 HP:0001133, HP:0032037, HP:0001417, HP:0000510	Familial, X-linked dominant	-	-	-	-	-	Jinu Han	00379637
0000273486	retinitis pigmentosa (RP)	-	HP:0032122, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379642
0000273488	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379644
0000273491	retinitis pigmentosa (RP)	-	HP:0032122, HP:0000662, HP:0000613, HP:0001133, HP:0003745, HP:0000510	Familial, X-linked dominant	-	-	-	-	-	Jinu Han	00379647
0000273494	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379650
0000273496	retinitis pigmentosa (RP)	-	HP:0032037 HP:0000662 HP:0000613, HP:0001133, HP:0000006, HP:0007795, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00379652
0000273497	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379653
0000273500	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000006, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00379656
0000273503	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000007, HP:0000510, HP:0001133	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379659
0000273505	retinitis pigmentosa (RP)	-	HP:0032122, HP:0000662, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379661
0000273509	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000006, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00379665
0000273511	HP:0030515 HP:0000662 HP:0000613 HP:0001133 HP:0000551 HP:0000006 HP:0000510	-	HP:0030515, HP:0000662, HP:0000613, HP:0001133, HP:0000551, HP:0000006, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00379667
0000273512	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379668
0000273515	retinitis pigmentosa (RP)	-	HP:0030515, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379671
0000273517	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379673
0000273518	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0003745, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379674
0000273521	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0003745, HP:0000510	Familial, X-linked dominant	-	-	-	-	-	Jinu Han	00379677
0000273526	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000006, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00379682
0000273529	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0001417, HP:0000510	Familial, X-linked dominant	-	-	-	-	-	Jinu Han	00379685
0000273533	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379689
0000273602	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000510, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379748
0000273603	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00379749
0000273606	retinitis pigmentosa (RP)	-	HP:0000662, HP:0000613, HP:0001133, HP:0000551, HP:0001288, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00379752
0000273607	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379753
0000273609	-	-	HP:0032037, HP:0000662, HP:0000613, HP:0001123, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379755
0000273613	retinitis pigmentosa (RP)	-	HP:0032122, HP:0000662, HP:0001133, HP:0000551, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379759
0000273615	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000365, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379761
0000273617	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379763
0000273619	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0000365, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379765
0000273620	retinitis pigmentosa (RP)	-	HP:0030515, HP:0000662, HP:0000613, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379766
0000273621	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379767
0000273628	retinitis pigmentosa (RP)	-	HP:0000662, HP:0001133, HP:0000510	Familial, X-linked dominant	-	-	-	-	-	Jinu Han	00379774
0000273629	retinitis pigmentosa (RP)	-	HP:0030515, HP:0000662, HP:0000613, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379775
0000273635	retinitis pigmentosa (RP)	-	HP:0032122, HP:0000613, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379780
0000273648	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00379793
0000273650	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379795
0000273651	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379796
0000273652	retinitis pigmentosa (RP)	-	HP:0032122, HP:0000662, HP:0000613, HP:0001133, HP:0000365, HP:0000510	Familial, autosomal recessive	-	-	-	-	-	Jinu Han	00379797
0000273653	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0001133, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00379798
0000273654	retinitis pigmentosa (RP)	-	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000510	Familial, autosomal dominant	-	-	-	-	-	Jinu Han	00379799

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9		Next ›	Last »

Global Variome shared LOVD