Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal cortical gyration (HP:0002536)

Parent Node:
Polymicrogyria (HP:0002126)

..Starting node
..Perisylvian polymicrogyria (HP:0012650)

Term ID:

12650

Name:

Perisylvian polymicrogyria

Synonym:

Frontoparietal polymicrogyria

Definition:

Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.

Comments:

Reference:

HP:0012650

Genes and Diseases:

Child Nodes:

Sister Nodes:

Frontal polymicrogyria (HP:0006821)

obsolete Frontoparietal polymicrogyria (HP:0007095)

Unilateral polymicrogyria (HP:0006927)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR		88
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	200
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	22
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	3
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	17
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	48
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	2
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	173
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	45
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	665
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	67
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia		50
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	99
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	1
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39
HP:0012650	HP:0012650	Perisylvian polymicrogyria	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	34
HP:0012650	HP:0032406	Unilateral perisylvian polymicrogyria	1	CL E G H
HP:0012650	HP:0032407	Bilateral perisylvian polymicrogyria	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040281 - Very frequent	88
HP:0012650	HP:0032407	Bilateral perisylvian polymicrogyria	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040281 - Very frequent	11
HP:0012650	HP:0032407	Bilateral perisylvian polymicrogyria	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040281 - Very frequent	50
HP:0012650	HP:0032407	Bilateral perisylvian polymicrogyria	1	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia		50

Genes (32) :ADGRG1 ATP1A2 ATP1A3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1 GLI2 MAGEL2 MAPK8IP3 MICU1 MTOR NDN NODAL OCA2 PI4KA PTCH1 RAB3GAP1 SHH SHMT2 SIX3 SNRPN SRPX2 STIL TBC1D20 TDGF1 TGIF1 TUBA1A TUBB2B ZIC2

Diseases (19) :ORPHA:98889 OMIM:606854 OMIM:615752 OMIM:619605 OMIM:619606 ORPHA:280195 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:618443 OMIM:615673 OMIM:616638 OMIM:616531 OMIM:600118 OMIM:619121 OMIM:300643 OMIM:615663 ORPHA:171680 ORPHA:300573

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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