Phenotypes for disease #02571 (acidemia, propionic, OMIM:606054)

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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

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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218 entries on 3 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
0000060578	Propionicacidemia (OMIM:606054)	-	-	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00081009
0000081994	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Lourdes R. Desviat	00104054
0000081995	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Lourdes R. Desviat	00104055
0000081996	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Lourdes R. Desviat	00104056
0000081997	late-onset, relatively mild; favorable response to restriction dietary protein, psychomotor development adequate	-	-	Familial, autosomal recessive	-	-	1y5m	-	-	Johan den Dunnen	00104057
0000081998	late-onset; favorable response to restriction dietary protein, psychomotor development adequate	-	-	Familial, autosomal recessive	-	-	6y	-	-	Johan den Dunnen	00104058
0000081999	severe, neonatal, died soon after diagnosis	-	-	Familial, autosomal recessive	-	-	14d	-	-	Johan den Dunnen	00104059
0000082000	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104060
0000082001	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104061
0000082002	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104062
0000082003	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104063
0000082004	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104064
0000082005	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104065
0000082006	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104066
0000082007	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104067
0000082008	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104068
0000082009	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104069
0000082010	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104070
0000082011	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104071
0000082018	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Lourdes R. Desviat	00104078
0000082019	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Lourdes R. Desviat	00104079
0000082020	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Lourdes R. Desviat	00104080
0000082021	cell line no PCC activity	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104081
0000082022	cell line no PCC activity	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104082
0000082023	cell line no PCC activity	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104083
0000082024	cell line no PCC activity	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104084
0000082025	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104085
0000082026	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104086
0000082027	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104087
0000082028	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104088
0000082029	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104089
0000082030	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104090
0000082031	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104091
0000082032	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104092
0000082033	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104093
0000082034	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104094
0000082035	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104095
0000082036	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104096
0000082037	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104097
0000082038	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104098
0000082039	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104099
0000082040	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104100
0000082041	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104101
0000082042	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104102
0000082043	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104103
0000082044	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104104
0000082045	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104105
0000082046	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104106
0000082047	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104107
0000082048	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104108
0000082049	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104109
0000082050	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104110
0000082051	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104111
0000082052	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104112
0000082053	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104113
0000082054	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104114
0000082055	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104115
0000082056	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104116
0000082057	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104117
0000082058	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104118
0000082059	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104119
0000082060	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104120
0000082061	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104121
0000082062	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104122
0000082063	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104123
0000082064	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104124
0000082065	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104125
0000082066	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104126
0000082067	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104127
0000082068	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104128
0000082069	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104129
0000082070	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104130
0000082071	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104131
0000082072	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104132
0000082073	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104133
0000082074	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104134
0000082075	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104135
0000082076	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104136
0000082077	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104137
0000082078	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104138
0000082079	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104139
0000082080	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104140
0000082081	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104141
0000082082	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104142
0000082083	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104144
0000082084	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104145
0000082085	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104146
0000082086	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104147
0000082087	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104148
0000082088	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104149
0000082089	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104150
0000082090	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104151
0000082091	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104152
0000082092	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104153
0000082093	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104154
0000082094	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104155
0000082095	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104156
0000082096	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104157
0000082097	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104158
0000082098	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00104159

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