Phenotypes for disease #05910 (3M (3M syndrome (3M)))

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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

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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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32 entries on 1 page. Showing entries 1 - 32.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000254704	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359462
0000254705	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359463
0000254706	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359464
0000254707	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359465
0000254708	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359466
0000254709	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359467
0000254710	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359468
0000254711	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359469
0000254712	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359470
0000254713	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359471
0000254714	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359472
0000254715	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359473
0000254716	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359474
0000254717	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359475
0000254718	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359476
0000254719	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359477
0000254720	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359478
0000254721	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359479
0000254722	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359480
0000254723	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359481
0000254724	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359482
0000254725	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359483
0000254726	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359484
0000254727	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359485
0000254728	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359486
0000254729	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359487
0000254730	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359488
0000254731	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359489
0000254732	3-M syndrome	3M1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00359490
0000269000	-	Popov-chang syndrome PubMed: 31024343	HP:0000035; HP:0000054; HP:0001249; HP:0430023; HP:0002500; HP:3000040; HP:0012768; HP:0000750; HP:0002194	Familial	-	-	-	-	Wenjuan Qiu	00373789
0000270412	Short stature	3M Syndrome	Short stature	Familial, autosomal recessive	-	-	-	-	Xiuli Zhao	00375202
0000270413	Short stature	3M Syndrome	Short stature	Familial, autosomal recessive	-	-	-	-	Xiuli Zhao	00375203

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