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:
Lower extremity joint dislocation (HP:0030311)

Parent Node:
Knee dislocation (HP:0004976)

..Starting node
..Congenital knee dislocation (HP:0005191)

Term ID:

5191

Name:

Congenital knee dislocation

Synonym:

Dislocated knee since birth

Definition:

Comments:

Reference:

HP:0005191

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005191	HP:0005191	Congenital knee dislocation	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita	1129

Genes (1) :SYNE1

Diseases (1) :ORPHA:319332

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