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

..Starting node
..Subcortical heterotopia (HP:0032391)

Term ID:

32391

Name:

Subcortical heterotopia

Synonym:

Definition:

A form of heterotopia were the mislocalized gray matter is located deep within the white matter.

Comments:

Reference:

HP:0032391

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032391	HP:0032391	Subcortical heterotopia	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0032391	HP:0032391	Subcortical heterotopia	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0032391	HP:0032391	Subcortical heterotopia	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0032391	HP:0032391	Subcortical heterotopia	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0032391	HP:0032391	Subcortical heterotopia	0	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia		3
HP:0032391	HP:0032391	Subcortical heterotopia	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0032391	HP:0032391	Subcortical heterotopia	0	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3		15
HP:0032391	HP:0032391	Subcortical heterotopia	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0032391	HP:0032391	Subcortical heterotopia	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1		231
HP:0032391	HP:0032391	Subcortical heterotopia	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0032391	HP:0032391	Subcortical heterotopia	0	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4		14
HP:0032391	HP:0032391	Subcortical heterotopia	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0032391	HP:0032393	Diffuse ribbon-like subcortical heterotopia	1	CL E G H
HP:0032391	HP:0032392	Nodular subcortical heterotopia in peritrigonal regions	1	CL E G H
HP:0032391	HP:0032396	Transmantle columnar heterotopia	1	CL E G H
HP:0032391	HP:0032395	Curvilinear subcortical heterotopia	1	CL E G H
HP:0032391	HP:0032394	Mesial parasagittal subcortical heterotopia	1	CL E G H
HP:0032391	HP:0032409	Subcortical band heterotopia	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0032391	HP:0032409	Subcortical band heterotopia	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0032391	HP:0032409	Subcortical band heterotopia	1	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.	3
HP:0032391	HP:0032409	Subcortical band heterotopia	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0032391	HP:0032409	Subcortical band heterotopia	1	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	.	15
HP:0032391	HP:0032409	Subcortical band heterotopia	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5	.	71
HP:0032391	HP:0032409	Subcortical band heterotopia	1	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0032391	HP:0032409	Subcortical band heterotopia	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0032391	HP:0032409	Subcortical band heterotopia	1	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4	.	14
HP:0032391	HP:0032409	Subcortical band heterotopia	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0032391	HP:0032413	Diffuse subcortical band heterotopia	2	CL E G H
HP:0032391	HP:0032412	Anterior predominant subcortical band heterotopia	2	CL E G H
HP:0032391	HP:0032411	Posterior predominant subcortical band heterotopia	2	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1

Genes (12) :CEP85L COL4A2 CRPPA DCHS1 EML1 FAT4 KIF2A LAMB1 PAFAH1B1 TUBB TUBG1 TUBGCP2

Diseases (12) :OMIM:618873 OMIM:614483 OMIM:614643 OMIM:601390 OMIM:600348 OMIM:615546 OMIM:615411 OMIM:615191 OMIM:607432 OMIM:615771 OMIM:615412 OMIM:618737

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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