Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 cerebral morphology (HP:0002060)

Parent Node:
Abnormal cerebral cortex morphology (HP:0002538)

..Starting node
..Thick cerebral cortex (HP:0006891)

Term ID:

6891

Name:

Thick cerebral cortex

Synonym:

Definition:

Comments:

Reference:

HP:0006891

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cortical gyration (HP:0002536)

Cerebral cortex with spongiform changes (HP:0006790)

Cortical dysplasia (HP:0002539)

Cortical tubers (HP:0009717)

Hypoplasia of the frontal lobes (HP:0007333)

Neuronal loss in the cerebral cortex (HP:0007190)

Open operculum (HP:0100954)

Small cerebral cortex (HP:0002472)

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:0006891	HP:0006891	Thick cerebral cortex	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0006891	HP:0006891	Thick cerebral cortex	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0006891	HP:0006891	Thick cerebral cortex	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0006891	HP:0006891	Thick cerebral cortex	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0006891	HP:0006891	Thick cerebral cortex	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0006891	HP:0006891	Thick cerebral cortex	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent	1
HP:0006891	HP:0006891	Thick cerebral cortex	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	117
HP:0006891	HP:0006891	Thick cerebral cortex	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	1
HP:0006891	HP:0006891	Thick cerebral cortex	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040281 - Very frequent	231
HP:0006891	HP:0006891	Thick cerebral cortex	0	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2	.	334
HP:0006891	HP:0006891	Thick cerebral cortex	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent	271
HP:0006891	HP:0006891	Thick cerebral cortex	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	14
HP:0006891	HP:0032400	Dysgyria with thickened cortex	1	CL E G H

Genes (11) :APC2 ATP6V0A2 ATP6V1A ATP6V1E1 CPLX1 NIPA1 NIPA2 PAFAH1B1 RELN TBC1D24 TUBG1

Diseases (7) :OMIM:618677 ORPHA:357074 ORPHA:2834 ORPHA:352582 ORPHA:261183 ORPHA:95232 OMIM:257320

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen