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 knee (HP:0002815)

Grandparent Node:
Bowing of the legs (HP:0002979)

Parent Node:
Genu valgum (HP:0002857)

Parent Node:
Genu varum (HP:0002970)

..Starting node
..Wind-swept deformity of the knees (HP:0100531)

Term ID:

100531

Name:

Wind-swept deformity of the knees

Synonym:

Wind-swept deformity of the knees

Definition:

The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.

Comments:

Reference:

HP:0100531

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:0100531	HP:0100531	Wind-swept deformity of the knees	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89

Genes (1) :COMP

Diseases (1) :ORPHA:750

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