Human Phenotype Ontology

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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:
Abnormality of the musculature (HP:0003011)

Parent Node:
Abnormal morphology of the pelvis musculature (HP:0001469)

..Starting node
..Abnormality of the hip-girdle musculature (HP:0001445)

Term ID:

1445

Name:

Abnormality of the hip-girdle musculature

Synonym:

Definition:

Comments:

Reference:

HP:0001445

Genes and Diseases:

Child Nodes:

........

Pelvic girdle muscle weakness (HP:0003749)

................... HP:0012515 Hip flexor weakness

........

Pelvic girdle muscle atrophy (HP:0008988)

................... HP:0003665 Amyotrophy of the musculature of the pelvis

Sister Nodes:

Abnormality of the gluteal musculature (HP:0001443)

Aplasia/Hypoplasia of the musculature of the pelvis (HP:0001471)

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:0001445	HP:0001445	Abnormality of the hip-girdle musculature	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0001445	HP:0001445	Abnormality of the hip-girdle musculature	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001445	HP:0001445	Abnormality of the hip-girdle musculature	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E		113
HP:0001445	HP:0001445	Abnormality of the hip-girdle musculature	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0001445	HP:0001445	Abnormality of the hip-girdle musculature	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0001445	HP:0008988	Pelvic girdle muscle atrophy	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0001445	HP:0008988	Pelvic girdle muscle atrophy	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001445	HP:0008988	Pelvic girdle muscle atrophy	1	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.	113
HP:0001445	HP:0008988	Pelvic girdle muscle atrophy	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0001445	HP:0008988	Pelvic girdle muscle atrophy	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63
HP:0001445	HP:0003665	Amyotrophy of the musculature of the pelvis	2	CL E G H

Genes (5) :ANO5 LMNA SGCB TRIM32 VCP

Diseases (5) :ORPHA:206549 ORPHA:98856 OMIM:604286 OMIM:254110 OMIM:167320

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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