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:
Finger joint hypermobility (HP:0006094)

Parent Node:
Hyperextensibility of the finger joints (HP:0001187)

..Starting node
..Proximal finger joint hyperextensibility (HP:0005190)

Term ID:

5190

Name:

Proximal finger joint hyperextensibility

Synonym:

Definition:

Comments:

Reference:

HP:0005190

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:0005190	HP:0005190	Proximal finger joint hyperextensibility	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165

Genes (1) :LMX1B

Diseases (1) :ORPHA:2614

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