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:
Limitation of joint mobility (HP:0001376)

Parent Node:
Abnormal foot morphology (HP:0001760)

Parent Node:
Ankylosis (HP:0031013)

..Starting node
..Ankylosis of feet small joints (HP:0008090)

Term ID:

8090

Name:

Ankylosis of feet small joints

Synonym:

Definition:

Comments:

Reference:

HP:0008090

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elbow ankylosis (HP:0003070)

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:0008090	HP:0008090	Ankylosis of feet small joints	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64

Genes (1) :MMP2

Diseases (1) :OMIM:259600

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