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:
Proximal lower limb amyotrophy (HP:0008956)

Parent Node:
Quadriceps muscle atrophy (HP:0009050)

..Starting node
..Rectus femoris muscle atrophy (HP:0040191)

Term ID:

40191

Name:

Rectus femoris muscle atrophy

Synonym:

Atrophy of the rectus femoris muscles

Definition:

Comments:

Reference:

HP:0040191

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:0040191	HP:0040191	Rectus femoris muscle atrophy	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200

Genes (1) :RYR1

Diseases (1) :ORPHA:98905

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