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 cerebral morphology (HP:0002060)

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

..Starting node
..Neuronal loss in the cerebral cortex (HP:0007190)

Term ID:

7190

Name:

Neuronal loss in the cerebral cortex

Synonym:

Definition:

Comments:

Reference:

HP:0007190

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)

Open operculum (HP:0100954)

Small cerebral cortex (HP:0002472)

Thick cerebral cortex (HP:0006891)

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:0007190	HP:0007190	Neuronal loss in the cerebral cortex	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	56
HP:0007190	HP:0007190	Neuronal loss in the cerebral cortex	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	11
HP:0007190	HP:0007190	Neuronal loss in the cerebral cortex	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	105
HP:0007190	HP:0007190	Neuronal loss in the cerebral cortex	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.	118
HP:0007190	HP:0007190	Neuronal loss in the cerebral cortex	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0007190	HP:0007190	Neuronal loss in the cerebral cortex	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	62
HP:0007190	HP:0007190	Neuronal loss in the cerebral cortex	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	65
HP:0007190	HP:0007190	Neuronal loss in the cerebral cortex	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	20
HP:0007190	HP:0007190	Neuronal loss in the cerebral cortex	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	63

Genes (9) :C9ORF72 CHCHD10 FUS PC PIGA SQSTM1 TARDBP TBK1 VCP

Diseases (3) :ORPHA:275872 OMIM:266150 OMIM:301072

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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