Phenotypes for disease #02554 (metabolic syndrome (metabolic syndrome))

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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

How to query this table

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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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141 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
0000165133	severe, obesity, calves hypertrophy, android fat distribution	metabolic syndrome	-	Familial	-	-	-	-	-	Johan den Dunnen	00216681
0000165134	diabetes, peripheral neuropathy, retinopathy, hypertension, android body habitus.	metabolic syndrome	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00216682
0000165135	insulin-requiring diabetes, retinopathy, neuropathy, chronic myalgia, articular pain pper limbs	metabolic syndrome	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00216683
0000165136	insulin-resistant diabetes, retinopathy, nephropathy, peripheral neuropathy, hypertension, severe and diffuse atherosclerosis, coronary heart disease, carotid stenosis, ischemia lower limbs	metabolic syndrome	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00216684
0000165137	insulin-resistant diabetes, chronic hyperglycemia led to retinopathy, peripheral neuropathy, renal failure, severe hypertriglyceridemia, diffuse atherosclerosis; 49y-coronary artery bypass	metabolic syndrome	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00216685
0000165138	morbid android obesity, diabetes, hypertension, left ventricular hypertrophy	metabolic syndrome	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00216686
0000165139	fat accumulation face/neck/upper thorax/pubic areas, painful pseudoedema hands/feet, muscle cramps lower limbs, pelvic muscles weakness	metabolic syndrome	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00216687
0000165140	subclavicular fat accumulation, lipodystrophy, cevicofacial fat accumulation	metabolic syndrome	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00216688
0000165141	insulin-requiring diabetes, muscular hypertrophy, polycystic ovarian syndrome, diabetes, hypertension, hypertriglyceridemia, several myocardial infarctions, cardiac rhythm/conduction disturbances	metabolic syndrome	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00216689
0000180227	CAD, hypertension, impaired glucose intolerance, gout, normal bone z-scores	-	-	Familial, autosomal dominant	-	-	-	-	-	Emily Smith	00240062
0000180228	CAD, diabetes, hypertension, hypercholesterolemia	-	-	Familial, autosomal dominant	-	-	-	-	-	Emily Smith	00240063
0000342242	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	IBDD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453585
0000342243	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	IBDD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453586
0000342244	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	IBDD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453587
0000342245	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	IBDD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453588
0000342246	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADMD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453589
0000342247	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADMD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453590
0000342248	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADMD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453591
0000342249	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADMD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453592
0000342250	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADMD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453593
0000342251	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADMD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453594
0000342252	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADMD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453595
0000342253	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADMD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453596
0000342254	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADSD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453597
0000342255	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADSD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453598
0000342256	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADSD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453599
0000342257	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADSD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453600
0000342258	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADSD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453601
0000342259	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	SBCADD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453602
0000342260	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADVLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453603
0000342261	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADVLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453604
0000342262	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADVLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453605
0000342263	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADVLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453606
0000342264	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ACADVLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453607
0000342265	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	alpha-methylacetoacetic aciduria	Familial, autosomal recessive	-	-	6y	-	-	Johan den Dunnen	00453608
0000342266	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	ASAD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453609
0000342267	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453610
0000342268	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	CTLN1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453611
0000342269	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MSUD1A	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453612
0000342270	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	CBSD	Familial, autosomal recessive	-	-	19y	-	-	Johan den Dunnen	00453613
0000342271	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	methylmalonic aciduria	Familial, autosomal recessive	-	-	08y-09y	-	-	Johan den Dunnen	00453614
0000342272	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	CPTD1A	Familial, autosomal recessive	-	-	5y	-	-	Johan den Dunnen	00453615
0000342273	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MADD	Familial, autosomal recessive	-	-	12y	-	-	Johan den Dunnen	00453616
0000342274	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	GA1	Familial, autosomal recessive	-	-	6y	-	-	Johan den Dunnen	00453617
0000342275	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	GA1	Familial, autosomal recessive	-	-	9y	-	-	Johan den Dunnen	00453618
0000342276	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	GA1	Familial, autosomal recessive	-	-	43y	-	-	Johan den Dunnen	00453619
0000342277	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	LCHADD	Familial, autosomal recessive	-	-	5y	-	-	Johan den Dunnen	00453620
0000342278	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	IVA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453621
0000342279	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	IVA	Familial, autosomal recessive	-	-	3y	-	-	Johan den Dunnen	00453622
0000342280	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	methionine adenosyltransferase I/III deficiency	Unknown	-	-	5y	-	-	Johan den Dunnen	00453623
0000342281	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MCC1D	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453624
0000342282	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MCC1D	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453625
0000342283	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MCC1D	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453626
0000342284	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MCC2D	Familial, autosomal recessive	-	-	3y	-	-	Johan den Dunnen	00453627
0000342285	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MCC2D	Familial, autosomal recessive	-	-	6y	-	-	Johan den Dunnen	00453628
0000342286	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MCC2D	Familial, autosomal recessive	-	-	6y	-	-	Johan den Dunnen	00453629
0000342287	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MCC2D	Familial, autosomal recessive	-	-	5y	-	-	Johan den Dunnen	00453630
0000342288	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MCC2D	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453631
0000342289	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MCC2D	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453632
0000342290	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	methylmalonic aciduria	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453633
0000342291	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MAHCC	Familial, autosomal recessive	-	-	05y-08y	-	-	Johan den Dunnen	00453634
0000342292	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MAHCD	Familial, autosomal recessive	-	-	05y-08y	-	-	Johan den Dunnen	00453635
0000342293	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	MAHCD	Familial, autosomal recessive	-	-	05y-08y	-	-	Johan den Dunnen	00453636
0000342294	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	methylmalonic aciduria	Familial, autosomal recessive	-	-	05y-08y	-	-	Johan den Dunnen	00453637
0000342295	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	methylmalonic aciduria	Familial, autosomal recessive	-	-	05y-10y	-	-	Johan den Dunnen	00453638
0000342296	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	OTCD	Familial, X-linked recessive	-	-	05y-10y	-	-	Johan den Dunnen	00453639
0000342297	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	05y-10y	-	-	Johan den Dunnen	00453640
0000342298	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	05y-10y	-	-	Johan den Dunnen	00453641
0000342299	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	05y-10y	-	-	Johan den Dunnen	00453642
0000342300	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453643
0000342301	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453644
0000342302	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	01y-03y	-	-	Johan den Dunnen	00453645
0000342303	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	05y-08y	-	-	Johan den Dunnen	00453646
0000342304	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453647
0000342305	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453648
0000342306	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453649
0000342307	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453650
0000342308	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453651
0000342309	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453652
0000342310	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453653
0000342311	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453654
0000342312	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453655
0000342313	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453656
0000342314	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453657
0000342315	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453658
0000342316	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453659
0000342317	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453660
0000342318	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453661
0000342319	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453662
0000342320	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453663
0000342321	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453664
0000342322	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	propionic acidemia	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453665
0000342323	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	HHYRPRO1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453666
0000342324	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	CDSP	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00453667
0000342325	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	-	Unknown	-	-	-	-	-	Johan den Dunnen	00453668
0000342326	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	-	Unknown	-	-	-	-	-	Johan den Dunnen	00453669
0000342327	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	-	Unknown	-	-	-	-	-	Johan den Dunnen	00453670
0000342328	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	-	Unknown	-	-	-	-	-	Johan den Dunnen	00453671
0000342329	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	-	Unknown	-	-	-	-	-	Johan den Dunnen	00453672
0000342330	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	inborn error of metabolism	-	Unknown	-	-	-	-	-	Johan den Dunnen	00453673

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Global Variome shared LOVD