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:
Osteomyelitis (HP:0002754)

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

Term ID:

5010

Name:

Osteomyelitis leading to amputation due to slow healing fractures

Synonym:

Definition:

Comments:

Reference:

HP:0005010

Genes and Diseases:

Child Nodes:

Sister Nodes:

Foot osteomyelitis (HP:0001886)

Mandibular osteomyelitis (HP:0007626)

obsolete Chronic recurrent multifocal osteomyelitis (HP:0005901)

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:0005010	HP:0005010	Osteomyelitis leading to amputation due to slow healing fractures	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0005010	HP:0005010	Osteomyelitis leading to amputation due to slow healing fractures	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85

Genes (2) :MPV17 MTAP

Diseases (2) :OMIM:256810 OMIM:112250

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