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:
Atrophy/Degeneration affecting the central nervous system (HP:0007367)

Parent Node:
Abnormal corpus striatum morphology (HP:0010994)

Parent Node:
Neurodegeneration (HP:0002180)

..Starting node
..Degeneration of the striatum (HP:0040140)

Term ID:

40140

Name:

Degeneration of the striatum

Synonym:

Definition:

Comments:

Reference:

HP:0040140

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:0040140	HP:0040140	Degeneration of the striatum	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	116
HP:0040140	HP:0040140	Degeneration of the striatum	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0040140	HP:0040140	Degeneration of the striatum	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0040140	HP:0040140	Degeneration of the striatum	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0040140	HP:0040140	Degeneration of the striatum	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0040140	HP:0040140	Degeneration of the striatum	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	28
HP:0040140	HP:0040140	Degeneration of the striatum	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0040140	HP:0040140	Degeneration of the striatum	0	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant	.	75
HP:0040140	HP:0040140	Degeneration of the striatum	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	33
HP:0040140	HP:0040140	Degeneration of the striatum	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	34
HP:0040140	HP:0040140	Degeneration of the striatum	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	60
HP:0040140	HP:0040140	Degeneration of the striatum	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0040140	HP:0040140	Degeneration of the striatum	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	55
HP:0040140	HP:0040140	Degeneration of the striatum	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0040140	HP:0040140	Degeneration of the striatum	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	56

Genes (13) :ADAR ATXN3 HTT IFIH1 LSM11 PDE8B RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SLC2A3 TREX1

Diseases (6) :ORPHA:51 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:399 OMIM:609161

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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