Phenotypes for disease #02086 (SSADHD (deficiency, succinate-semialdehyde dehydrogenase (SSADHD)), OMIM:271980)

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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'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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<	Numeric	<23	all entries lower than 23
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Example	Matches
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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176 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
0000145055	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184923
0000145056	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184924
0000145057	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184925
0000145058	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184926
0000145059	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184927
0000145060	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184928
0000145061	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184929
0000145062	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184930
0000145063	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184931
0000145064	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184932
0000145065	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184933
0000145066	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184934
0000145067	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184935
0000145068	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184936
0000145069	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184937
0000145070	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184938
0000145071	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184939
0000145072	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184940
0000145073	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184941
0000145074	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184942
0000145075	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184943
0000145076	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184944
0000145077	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184945
0000145078	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184946
0000145079	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184947
0000145080	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184948
0000145081	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184949
0000145082	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184950
0000145083	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184951
0000145084	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184952
0000145085	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184953
0000145086	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184954
0000145087	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184955
0000145088	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184956
0000145089	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184957
0000145090	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184958
0000145091	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184959
0000145092	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184960
0000145093	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184961
0000145094	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184962
0000145095	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184963
0000145096	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184964
0000145097	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184965
0000145098	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184966
0000145099	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184967
0000145100	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184968
0000145101	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184969
0000145102	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184970
0000145103	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184971
0000145104	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184972
0000145105	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184973
0000145106	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184974
0000145107	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184975
0000145108	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184976
0000145109	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184977
0000145112	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184980
0000145118	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184986
0000145119	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184987
0000145122	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184990
0000145126	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184994
0000145129	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184997
0000145132	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185000
0000145137	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185005
0000145140	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185008
0000145141	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185009
0000145146	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185014
0000145151	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185019
0000145154	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185022
0000145155	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185023
0000145158	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185026
0000145160	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185028
0000145163	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185031
0000145164	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185032
0000145165	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185033
0000145170	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185038
0000145173	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185041
0000145178	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185046
0000145179	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185047
0000145180	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185048
0000145181	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185049
0000145185	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185053
0000145186	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185054
0000145190	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185058
0000145192	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185060
0000145196	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185064
0000145199	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185067
0000145205	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185073
0000145206	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185074
0000145225	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185093
0000145228	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185096
0000145229	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185097
0000145234	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185102
0000145238	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185106
0000145239	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185107
0000145240	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185108
0000145243	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185111
0000145255	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185123
0000145256	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185124
0000145261	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185129
0000145264	-	ALDH5A1 defect	SSADHD	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00185132

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