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:
Abnormality of the musculature of the thigh (HP:0001441)

Grandparent Node:
Proximal amyotrophy (HP:0007126)

Parent Node:
Proximal lower limb amyotrophy (HP:0008956)

..Starting node
..Quadriceps muscle atrophy (HP:0009050)

Term ID:

9050

Name:

Quadriceps muscle atrophy

Synonym:

Wasting of quad muscles

Definition:

Muscular atrophy involving the quadriceps muscle.

Comments:

Reference:

HP:0009050

Genes and Diseases:

Child Nodes:

........

Rectus femoris muscle atrophy (HP:0040191)

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:0009050	HP:0009050	Quadriceps muscle atrophy	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0009050	HP:0009050	Quadriceps 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:0009050	HP:0009050	Quadriceps muscle atrophy	0	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3	.	304
HP:0009050	HP:0009050	Quadriceps muscle atrophy	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0009050	HP:0009050	Quadriceps muscle atrophy	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0009050	HP:0040191	Rectus femoris muscle atrophy	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200

Genes (4) :ADSS1 ANO5 RYR1 SMN1

Diseases (5) :ORPHA:482601 ORPHA:206549 OMIM:613319 ORPHA:98905 OMIM:271150

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