Phenotypes for disease #05525 (MOPD (dwarfism, primordial, osteodysplastic, microcephalic (MOPD)))

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

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000155598	microcephalic osteodysplastic primordial dwarfism	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207814
0000155599	microcephalic osteodysplastic primordial dwarfism	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207815
0000155600	microcephalic osteodysplastic primordial dwarfism	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207816
0000155601	microcephalic osteodysplastic primordial dwarfism	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207817
0000155602	microcephalic osteodysplastic primordial dwarfism	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207818
0000155603	microcephalic osteodysplastic primordial dwarfism	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207819
0000155604	microcephalic osteodysplastic primordial dwarfism	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207820
0000155605	microcephalic osteodysplastic primordial dwarfism	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207821
0000155606	microcephalic osteodysplastic primordial dwarfism	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207822
0000155607	microcephalic osteodysplastic primordial dwarfism	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207823
0000155608	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207824
0000155609	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207825
0000155610	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207826
0000155611	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207827
0000155612	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207828
0000155613	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207829
0000155614	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207830
0000155615	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207831
0000155620	-	MOPD-1	see paper; no severe developmental delay, no neurological symptoms, ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207836
0000155621	-	MOPD-1	see paper; no severe developmental delay, no neurological symptoms, ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207837
0000155622	MOPD	MOPD-1	microcephaly (HP:0000252); typical face; musculoskeletal features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207838
0000155623	MOPD	MOPD-1	microcephaly (HP:0000252); typical face; musculoskeletal features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207839
0000155624	MOPD	MOPD-1	microcephaly (HP:0000252); typical face; musculoskeletal features; skin/hair features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207840
0000155625	MOPD	MOPD-1	microcephaly (HP:0000252); typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207841
0000155626	MOPD	MOPD-1	microcephaly (HP:0000252); typical face; musculoskeletal features; no other organ anomalies; skin/hair features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207842
0000155627	MOPD	MOPD-1	microcephaly (HP:0000252); typical face; musculoskeletal features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207843
0000155628	MOPD	MOPD-1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207844
0000155629	MOPD	MOPD-1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207845
0000155630	MOPD	MOPD-1	microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207846
0000155631	MOPD	MOPD-1	microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair featuresm	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207847
0000155632	MOPD	MOPD-1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207848
0000155633	MOPD	MOPD-1	microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; no other organ anomalies; skin/hair features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207849
0000155634	MOPD	MOPD-1	microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207850
0000155635	MOPD	MOPD-1	microcephaly (HP:0000252); typical face; musculoskeletal features; hydrocephaly; skin/hair features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207851
0000155636	MOPD	MOPD-1	microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; bilateral cryptorchidism; skin/hair features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207852
0000155637	MOPD	MOPD-1	microcephaly (HP:0000252); typical brain anomalies; typical face; no musculoskeletal features; skin/hair features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207853
0000155638	MOPD	MOPD-1	microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; bilateral cryptorchidism; 2y-acute lymphocytic leukemia; skin/hair features	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207854
0000155639	microcephaly, seizures, developmental delay	MOPD-1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207855
0000155640	microcephaly, seizures, developmental delay	MOPD-1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207856
0000155641	microcephaly, seizures, developmental delay	MOPD-1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207857
0000155642	microcephaly, seizures, developmental delay	MOPD-1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207858
0000155643	microcephaly, seizures, developmental delay	MOPD-1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207859
0000155644	microcephaly, seizures, developmental delay	MOPD-1	see paper; ...	Familial, autosomal recessive	18y	-	-	-	Johan den Dunnen	00207860
0000155646	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207862
0000155647	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207863
0000155648	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207864
0000155649	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207865
0000155650	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207866
0000155651	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207867
0000155652	Taybi-Linder syndrome	MOPD-1	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207868
0000155653	microcephaly, seizures, developmental delay	MOPD-1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207869
0000155654	-	MOPD-1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207870
0000155657	microcephaly, seizures, developmental delay	MOPD-1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207873
0000155658	microcephaly, seizures, developmental delay	MOPD-1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207874
0000155664	Roifman syndrome	MOPD-1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00207880
0000170731	MOPD	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	David A. Parry	00225597
0000170732	MOPD	-	see paper; ...	Isolated (sporadic)	-	-	-	-	David A. Parry	00225620
0000170733	MOPD	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	David A. Parry	00225622
0000170735	MOPD	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	David A. Parry	00225623
0000254687	microcephalic osteodysplastic primordial dwarfism	MOPD2	see paper; ..., slender bone dysplasia	Familial, autosomal recessive	00y04m	-	-	-	Cynthia Silveira	00359446
0000347881	microcephalic osteodysplastic primordial dwarfism	MOPD2	see paper; ..., intra-uterine growth retardation, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped and ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia, opalescent teeth, abnormally shaped teeth, rootless molars, all teeth small, mandibular premolars unusually small/malformed, teeth loose, occlusal/incisal surfaces wore off very quickly	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00460156
0000347882	microcephalic osteodysplastic primordial dwarfism	MOPD2	see paper; ..., IUGR, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia; skin anomalies	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00460157
0000347884	-	mopd2	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00460159
0000347885	-	mopd2	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00460160

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Global Variome shared LOVD