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:
Abnormal musculoskeletal physiology (HP:0011843)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Abnormal foot morphology (HP:0001760)

Parent Node:
Osteomyelitis (HP:0002754)

..Starting node
..Foot osteomyelitis (HP:0001886)

Term ID:

1886

Name:

Foot osteomyelitis

Synonym:

Foot bone infection

Definition:

An infection of bone of the foot.

Comments:

Reference:

HP:0001886

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mandibular osteomyelitis (HP:0007626)

obsolete Chronic recurrent multifocal osteomyelitis (HP:0005901)

Osteomyelitis leading to amputation due to slow healing fractures (HP:0005010)

Salmonella osteomyelitis (HP:0005661)

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:0001886	HP:0001886	Foot osteomyelitis	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040283 - Occasional	56
HP:0001886	HP:0001886	Foot osteomyelitis	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0001886	HP:0001886	Foot osteomyelitis	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.	50
HP:0001886	HP:0001886	Foot osteomyelitis	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.	54

Genes (3) :CCT5 RAB7A SPTLC1

Diseases (4) :ORPHA:139578 OMIM:256840 OMIM:600882 OMIM:162400

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