Phenotypes for disease #00277 (DWFP (dwarfism, primordial (DWFP)))

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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

Birth_Details: birth details individual: gestational age (weeks), premature birth (HP:0001622, <37w); birth weight (in g/SD); birth length (in cm/SD); OFC at birth (in cm/SD)

Height-Weight-OFC: Height-Weight-OFC last visit (SDS)

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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34 entries on 1 page. Showing entries 1 - 34.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Birth_Details	Height-Weight-OFC	Protein	Owner	Individual ID
0000041489	normal motor development, speech delay, triangular bird-like face, and short philtrum	-	-	Familial, autosomal recessive	-	-	-	-	weight 1.35 (-3.9), length ?, OFC ?	4y weight 5.4 (-6.3), length 71 (-7.1), OFC 36.8 (-8.3)	-	Fowzan Alkuraya	00004054
0000079010	see paper; ...	-	-	Unknown	-	-	-	-	-	-	-	Johan den Dunnen	00004053
0000082895	microcephalic primordial dwarfism (MPD), see paper; ..., extreme microcephaly (-8.3 SD), short stature (-4.7 SD)	-	-	Familial, autosomal recessive	03y01m	-	-	-	-	-	-	Johan den Dunnen	00105004
0000082896	see paper; ...	-	-	Familial, autosomal recessive	02y09m	-	-	-	-	-	-	Johan den Dunnen	00105005
0000082897	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	-	-	Johan den Dunnen	00105006
0000082898	see paper; ...	-	-	Familial, autosomal recessive	09y	-	-	-	-	-	-	Johan den Dunnen	00105007
0000082899	see paper; ...	-	-	Familial, autosomal recessive	00y05m	-	-	-	-	-	-	Johan den Dunnen	00105008
0000082900	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	-	-	Johan den Dunnen	00105009
0000347855	see paper; ..., mild developmental delay; multiple aneurysms, Moyamoya disease	primordial dwarfism	MOPD2	Familial, autosomal recessive	12y6m	-	-	-	-	-	-	Johan den Dunnen	00460130
0000347856	see paper; ..., no developmental dealy; Moyamoya disease	primordial dwarfism	MOPD2	Familial, autosomal recessive	12y6m	-	-	-	-	-	-	Johan den Dunnen	00460131
0000347857	see paper; ..., mild developmental delay	primordial dwarfism	MOPD2	Familial, autosomal recessive	5y6m	-	-	-	-	-	-	Johan den Dunnen	00460132
0000347858	see paper; ..., mild developmental delay	primordial dwarfism	MOPD2	Familial, autosomal recessive	1y6m	-	-	-	-	-	-	Johan den Dunnen	00460133
0000347859	see paper; ..., mild developmental delay	primordial dwarfism	MOPD2	Familial, autosomal recessive	7y11m	-	-	-	-	-	-	Johan den Dunnen	00460134
0000347860	see paper; ..., severe developmental delay (normal until strokes); Moyamoya disease, multiple infarcts	primordial dwarfism	MOPD2	Familial, autosomal recessive	6y9m	-	-	-	-	-	-	Johan den Dunnen	00460135
0000347861	see paper; ..., moderate developmental delay; frontal atrophy	primordial dwarfism	MOPD2	Familial, autosomal recessive	4y4m	-	-	-	-	-	-	Johan den Dunnen	00460136
0000347862	see paper; ..., mild-moderate developmental dealy; ischemic lesion, stroke	primordial dwarfism	MOPD2	Familial, autosomal recessive	5y2m	-	-	-	-	-	-	Johan den Dunnen	00460137
0000347863	see paper; ..., mild developmental delay (VIQ78, PIQ53, FSIQ60); sub-arachnoid bleeding	primordial dwarfism	MOPD2	Familial, autosomal recessive	8y4m	-	-	-	-	-	-	Johan den Dunnen	00460138
0000347864	see paper; ..., mild developmental delay	primordial dwarfism	MOPD2	Familial, autosomal recessive	4m	-	-	-	-	-	-	Johan den Dunnen	00460139
0000347865	see paper; ..., mild developmental delay	primordial dwarfism	MOPD2	Familial, autosomal recessive	11y8m	-	-	-	-	-	-	Johan den Dunnen	00460140
0000347866	see paper; ..., mild developmental delay	primordial dwarfism	MOPD2	Familial, autosomal recessive	6y9m	-	-	-	-	-	-	Johan den Dunnen	00460141
0000347867	see paper; ..., mild developmental delay	primordial dwarfism	MOPD2	Familial, autosomal recessive	5y6m	-	-	-	-	-	-	Johan den Dunnen	00460142
0000347868	see paper; ..., mild developmental delay; Moyamoya disease, multiple infarcts	primordial dwarfism	MOPD2	Familial, autosomal recessive	1y3m	-	-	-	-	-	-	Johan den Dunnen	00460143
0000347869	see paper; ..., severe developmental delay; enlarged ventricles	primordial dwarfism	MOPD2	Familial, autosomal recessive	6y6m	-	-	-	-	-	-	Johan den Dunnen	00460144
0000347870	see paper; ..., severe developmental delay; hydrocephalus	primordial dwarfism	MOPD2	Familial, autosomal recessive	5y	-	-	-	-	-	-	Johan den Dunnen	00460145
0000347871	see paper; ..., mild-moderate developmental dealy	primordial dwarfism	MOPD2	Familial, autosomal recessive	3y9m	-	-	-	-	-	-	Johan den Dunnen	00460146
0000347872	see paper; ..., mild developmental delay	primordial dwarfism	MOPD2	Familial, autosomal recessive	1y4m	-	-	-	-	-	-	Johan den Dunnen	00460147
0000347873	see paper; ..., borderline developmental delay (VIQ 81, PIQ 80, FSIQ 79)	primordial dwarfism	MOPD2	Familial, autosomal recessive	8y3m	-	-	-	-	-	-	Johan den Dunnen	00460148
0000347874	see paper; ..., mild developmental delay (IQ60-65)	primordial dwarfism	MOPD2	Familial, autosomal recessive	6y	-	-	-	-	-	-	Johan den Dunnen	00460149
0000347875	see paper; ..., no developmental dealy; Moyamoya disease, epilepsy	primordial dwarfism	MOPD2	Familial, autosomal recessive	10y	-	-	-	-	-	-	Johan den Dunnen	00460150
0000347876	see paper; ..., mild developmental delay	primordial dwarfism	MOPD2	Familial, autosomal recessive	2y7m	-	-	-	-	-	-	Johan den Dunnen	00460151
0000347877	see paper; ..., mild developmental delay; Moyamoya disease, ischemic lesion	primordial dwarfism	MOPD2	Familial, autosomal recessive	2y9m	-	-	-	-	-	-	Johan den Dunnen	00460152
0000347878	see paper; ..., no developmental dealy	primordial dwarfism	MOPD2	Familial, autosomal recessive	29y	-	-	-	-	-	-	Johan den Dunnen	00460153
0000347879	see paper; ..., mild developmental delay	primordial dwarfism	MOPD2	Familial, autosomal recessive	2y1m	-	-	-	-	-	-	Johan den Dunnen	00460154
0000347880	see paper; ..., mild developmental delay	primordial dwarfism	MOPD2	Familial, autosomal recessive	2y3m	-	-	-	-	-	-	Johan den Dunnen	00460155

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