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 (HP:0003011)

Parent Node:
Abnormal axial muscle morphology (HP:0040286)

..Starting node
..Axial muscle atrophy (HP:0040287)

Term ID:

40287

Name:

Axial muscle atrophy

Synonym:

Definition:

Comments:

Reference:

HP:0040287

Genes and Diseases:

Child Nodes:

Sister Nodes:

Axial muscle stiffness (HP:0006921)

Axial muscle weakness (HP:0003327)

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:0040287	HP:0040287	Axial muscle atrophy	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent	759

Genes (1) :PLEC

Diseases (1) :ORPHA:254361

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