Disease #00030 (PMD (Pelizaeus–Merzbacher Disease), OMIM:312080)

Official abbreviation	PMD
Name	Pelizaeus–Merzbacher Disease
OMIM ID	312080
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	96
Phenotype entries for this disease	-
Associated with 1 gene	PLP1
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Remarks: Remarks about the individual.

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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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96 entries on 1 page. Showing entries 1 - 96.

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How to query

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00003836	Carango P1, Funanage VL, Quirós RE, Debruyn CS, Marks HG.(1995)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003837	Hobson GM1, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG.(2000)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003838	Hobson GM1, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG.(2000)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003839	Hobson GM1, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG.(2000)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003840	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003841	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003842	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003843	Inoue K1, Osaka H, Kawanishi C, Sugiyama N, Ishii M, Sugita K, Yamada Y, Kosaka K.(1997)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003844	Gencic S1, Abuelo D, Ambler M, Hudson LD.(1989)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003845	Koeppen AH, Ronca NA, Greenfield EA, Hans MB.(1987)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003846	Trofatter JA1, Dlouhy SR, DeMyer W, Conneally PM, Hodes ME.(1989)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003847	Pratt VM1, Trofatter JA, Schinzel A, Dlouhy SR, Conneally PM, Hodes ME.(1991)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003848	Pham-Dinh D1, Popot JL, Boespflug-Tanguy O, Landrieu P, Deleuze JF, Boué J, Jollès P, Dautigny A.(1991)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003849	Strautnieks S1, Rutland P, Winter RM, Baraitser M, Malcolm S.(1992)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003850	Strautnieks S1, Rutland P, Winter RM, Baraitser M, Malcolm S.(1992)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003851	Hodes ME1, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003852	Doll R1, Natowicz MR, Schiffmann R, Smith FI.(1992)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003853	Doll R1, Natowicz MR, Schiffmann R, Smith FI.(1992)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003854	Iwaki A1, Muramoto T, Iwaki I, Furumi H, Dario-deLeon ML, Tateishi J, Fukumaki Y.(1993)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003855	Bonneau D1, Rozet JM, Bulteau C, Berthier M, Mettey R, Gil R, Munnich A, Le Merrer M.(1993)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003856	JOHNSTON AW, McKUSICK VA.(1962)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003857	Pratt VM1, Boyadjiev S, Green K, Hodes ME, Dlouhy SR.(1995)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003858	Sistermans EA1, de Wijs IJ, de Coo RF, Smit LM, Menko FH, van Oost BA.(1996)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003859	Hodes ME1, Blank CA, Pratt VM, Morales J, Napier J, Dlouhy SR.(1997)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003860	Gow A1, Lazzarini RA.(1996)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003861	Arena JF1, Schwartz C, Stevenson R, Lawrence L, Carpenter A, Duara R, Ledbetter D, Huang T, Lehner T, Ott J, et al.(1992)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003862	Otterbach B1, Stoffel W, Ramaekers V.(1993)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003863	Pratt VM1, Kiefer JR, L?hdetie J, Schleutker J, Hodes ME, Dlouhy SR.(1993)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003864	Hodes ME1, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003865	Tosic M1, Dolivo M, Domanska-Janik K, Matthieu JM.(1994)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003866	Nance MA1, Boyadjiev S, Pratt VM, Taylor S, Hodes ME, Dlouhy SR.(1996)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003867	Inoue K1, Osaka H, Kawanishi C, Sugiyama N, Ishii M, Sugita K, Yamada Y, Kosaka K.(1997)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003868	Kawanishi C1, Osaka H, Owa K, Inoue K, Miyakawa T, Onishi H, Yamada Y, Suzuki K, Kimura S, Kosaka K.(1997)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003869	Bond C1, Si X, Crisp M, Wong P, Paulson GW, Boesel CP, Dlouhy SR, Hodes ME.(1997)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003870	Nagao M1, Kadowaki J.(1998)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003871	Hodes ME, Aydanian A, Dlouhy SR, Whelan DT, Heshka T, Ronen G.(1998)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003872	Osaka H1, Kawanishi C, Inoue K, Onishi H, Kobayashi T, Sugiyama N, Kosaka K, Nezu A, Fujii K, Sugita K, Kodama K, Murayama K, Murayama S, Kanazawa I, Kimura S.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003873	Osaka H1, Kawanishi C, Inoue K, Onishi H, Kobayashi T, Sugiyama N, Kosaka K, Nezu A, Fujii K, Sugita K, Kodama K, Murayama K, Murayama S, Kanazawa I, Kimura S.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003874	Hodes ME1, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003875	Sivakumar K1, Sambuughin N, Selenge B, Nagle JW, Baasanjav D, Hudson LD, Goldfarb LG.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003876	Yamamoto T1, Nanba E.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003877	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003878	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003879	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003880	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003881	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003882	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003883	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003884	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003885	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003886	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003887	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003888	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003889	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003890	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003891	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003892	Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003893	Lee ES1, Moon HK, Park YH, Garbern J, Hobson GM.(2004)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003894	Verhagen WI, Huygen PL, Smeets HJ, Renier WO, de Wijs I.(1997)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003895	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003896	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003897	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003898	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003899	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003900	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003901	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003902	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003903	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003904	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003905	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003906	Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003907	Kibe T1, Miyahara J, Yokochi K, Iwaki A.(2009)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003908	Fattal-Valevski A1, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM.(2009)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003909	Fukumura S1, Adachi N, Nagao M, Tsutsumi H.(2011)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003910	Miller E1, Widjaja E, Nilsson D, Yoon G, Banwell B, Blaser S.(2010)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003911	"Grossi S1, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A(2011)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003912	"Grossi S1, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A(2011)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003913	"Grossi S1, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A(2011)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003914	"Grossi S1, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A(2011)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003915	Hoffman-Zacharska D1, Kmie? T, Poznański J, Jurek M, Bal J.(2013)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003916	Regis S1, Corsolini F, Grossi S, Tappino B, Cooper DN, Filocamo M.(2013)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003917	Noetzli L1, Sanz PG, Brodsky GL, Hinckley JD, Giugni JC, Giannaula RJ, Gonzalez-Alegre P, Di Paola J.(2014)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003918	La??uthová P1, Zaliová M2, Inoue K3, Haberlová J4, Sixtová K5, Sakmaryová I4, Paděrová K4, Mazanec R6, Záme?ník J7, Si?ková D5, Garbern J8, Seeman P4.(2013)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003919	La??uthová P1, Zaliová M2, Inoue K3, Haberlová J4, Sixtová K5, Sakmaryová I4, Paděrová K4, Mazanec R6, Záme?ník J7, Si?ková D5, Garbern J8, Seeman P4.(2013)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003920	La??uthová P1, Zaliová M2, Inoue K3, Haberlová J4, Sixtová K5, Sakmaryová I4, Paděrová K4, Mazanec R6, Záme?ník J7, Si?ková D5, Garbern J8, Seeman P4.(2013)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003921	Shimojima K1, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H, Hirose S, Yamamoto T.(2012)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003922	Shiihara T1, Watanabe M2, Moriyama K2, Uematsu M3, Sameshima K4.(2015)	-	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003923	Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014)	Chinese	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003924	Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014)	Chinese	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003925	Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014)	Chinese	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003926	Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014)	Chinese	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003927	Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014)	Chinese	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00003928	Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014)	Chinese	-	PMD	-	PLP1	PLP1	1	1	Y Yang
00005819	Omata T et al. (2016)	-	-	PMD	-	PLP1	PLP1	1	1	XY Liu
00005820	Pavlidou E et al. (2017)	-	-	PMD	-	PLP1	PLP1	1	1	XY Liu
00005821	Lu Y et al. (2017)	-	-	PMD	-	PLP1	PLP1	1	1	XY Liu

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How to query