Phenotypes for disease #05123 (SMA (atrophy, muscular, spinal (SMA)))

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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
	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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64 entries on 1 page. Showing entries 1 - 64.

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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
0000044437	no death in teenage years, no myoclonic epilepsy, no serious pulmonary involvement; CPK: normal; waddling gait, limb weakness	-	-	Familial, autosomal recessive	-	30y	03y	-	-	Mirella Filocamo	00057786
0000054460	Parkinsonism	-	-	Familial, autosomal recessive	28y	28y	16y	-	-	Coro Paisan-Ruiz	00078523
0000092189	-	-	-	Isolated (sporadic)	-	-	-	-	-	Rosário dos Santos	00116710
0000092190	SMA 1, 2, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116711
0000092208	SMA 1/2	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116729
0000092212	-	-	-	Isolated (sporadic)	-	-	-	-	-	Rosário dos Santos	00116733
0000092213	-	-	-	Isolated (sporadic)	-	-	-	-	-	Rosário dos Santos	00116734
0000092214	-	-	-	Unknown	-	-	-	-	-	Rosário dos Santos	00116735
0000092219	SMA 1 or 2	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116740
0000092220	SMA 1, 2, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116741
0000092223	SMA 1, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116744
0000092224	SMA 1, 2, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116745
0000092228	SMA 1 or 2	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116749
0000092231	SMA 1, 2	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116752
0000092234	SMA 1, 2, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116755
0000092235	SMA 2, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116756
0000092239	SMA 2, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116760
0000092275	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00116796
0000162132	-	spinal muscular atrophy	-	Isolated (sporadic)	-	-	-	-	WB no CAPN3	Johan den Dunnen	00213680
0000162327	SMA-3; CPK elevated (HP:0003236); still able to walk (-HP:0006957) ; still able to walk (-HP:0006957)	spinal muscular atrophy	-	Unknown	-	-	2y	toe walking, climbing stairs	-	Johan den Dunnen	00213875
0000162814	SMA-3	spinal muscular atrophy	-	Unknown	-	-	-	-	-	Johan den Dunnen	00214362
0000165271	severe	spinal muscular atrophy	-	Isolated (sporadic)	-	13y	<1y	-	-	Johan den Dunnen	00216819
0000167549	SMA	spinal muscular atrophy	SMALED-2	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00218992
0000174773	see paper; ..., normal early motor milestones, walking on toes, slow in grade school activities, often uses hand assist going up and down steps; high school slight weakness hips; disease declared itself in early 20s (falling); very slight levoscoliosis; SMA type IIIb	spinal muscular atrophy	SMA-3	Familial, autosomal recessive	42y	-	-	-	-	Johan den Dunnen	00234355
0000174775	see paper; ..., early motor milestones normal (9m-crawl, 15m-stand with support, 18m-walk; 2–3 years gait unsteady, hold on to furniture while waking; 5-6y assisted ambulation; 12y-wheelchair dependent; 14y-scoliosis surgery	spinal muscular atrophy	SMA-3	Familial, autosomal recessive	31y	-	03y	-	-	Johan den Dunnen	00234356
0000174778	see paper; ..., SMA-IIIb	spinal muscular atrophy	SMA-3	Familial, autosomal recessive	29y	-	-	-	-	Johan den Dunnen	00234360
0000180472	see paper; ..., sporadic and atypical form of spinal muscular atrophy	atypical spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00240408
0000210213	diagnosed with spinal muscular atrophy with SMN1 deletion	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00275007
0000237346	-	spinal muscular atrophy	SMAX3	-	-	-	-	-	-	Zeynep Tümer	00312215
0000237379	-	spinal muscular atrophy	SMAX3	-	-	-	-	-	-	Zeynep Tümer	00312248
0000242881	Delayed ability to walk; Global developmental delay	-	-	Unknown	03y	-	-	-	-	Andreas Laner	00324338
0000297477	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404919
0000297478	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404920
0000297479	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404921
0000297480	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404922
0000297481	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404923
0000297482	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404924
0000297483	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404925
0000297484	-	spinal muscular atrophy	CMTRIC	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404926
0000297485	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404927
0000297486	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404928
0000297487	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404929
0000297488	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404930
0000297489	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404931
0000297490	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404932
0000297491	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404933
0000297526	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404968
0000297527	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404969
0000297528	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404970
0000297529	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404971
0000297530	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404972
0000297531	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404973
0000297532	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404974
0000297533	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404975
0000297534	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404976
0000297535	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404977
0000297536	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404978
0000297537	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404979
0000297538	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404980
0000297539	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404981
0000297540	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404982
0000297541	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404983
0000303270	see paper; ..., spinal muscular atrophy	spinal muscular atrophy	SMA1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00411195
0000350528	see paper; ..., 12y-muscle weakness left, 30y-walk with cane; 45y-wheelchair-bound	-	-	Familial, autosomal recessive	-	56y	12y	muscle weakness of the left foot	-	Tamaki Kato	00464528

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Global Variome shared LOVD

MRPS25 (mitochondrial ribosomal protein S25)