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

Parent Node:
Abnormality of the hip-girdle musculature (HP:0001445)

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

..Starting node
..Pelvic girdle muscle atrophy (HP:0008988)

Term ID:

8988

Name:

Pelvic girdle muscle atrophy

Synonym:

Pelvic girdle muscle wasting

Definition:

Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).

Comments:

Reference:

HP:0008988

Genes and Diseases:

Child Nodes:

........

Amyotrophy of the musculature of the pelvis (HP:0003665)

Sister Nodes:

Aplasia of the musculature of the pelvis (HP:0500024)

Congenital absence of gluteal muscles (HP:0009013)

Hypoplasia of the musculature of the pelvis (HP:0500026)

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:0008988	HP:0008988	Pelvic girdle muscle atrophy	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0008988	HP:0008988	Pelvic girdle muscle atrophy	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0008988	HP:0008988	Pelvic girdle muscle atrophy	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.	113
HP:0008988	HP:0008988	Pelvic girdle muscle atrophy	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0008988	HP:0008988	Pelvic girdle muscle atrophy	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:0008988	HP:0003665	Amyotrophy of the musculature of the pelvis	1	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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