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 foot morphology (HP:0001760)

Grandparent Node:
Osteolysis involving bones of the lower limbs (HP:0009139)

Parent Node:
Abnormality of the tarsal bones (HP:0001850)

Parent Node:
Osteolysis involving bones of the feet (HP:0009134)

..Starting node
..Osteolysis involving tarsal bones (HP:0006234)

Term ID:

6234

Name:

Osteolysis involving tarsal bones

Synonym:

Tarsal bone osteolysis; Tarsal osteolysis

Definition:

An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.

Comments:

Reference:

HP:0006234

Genes and Diseases:

Child Nodes:

Sister Nodes:

Metatarsal osteolysis (HP:0001473)

Osteolysis of talus (HP:0008095)

Osteolytic defects of the phalanges of the toes (HP:0010177)

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:0006234	HP:0006234	Osteolysis involving tarsal bones	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0006234	HP:0006234	Osteolysis involving tarsal bones	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent	2
HP:0006234	HP:0006234	Osteolysis involving tarsal bones	0	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome		2
HP:0006234	HP:0006234	Osteolysis involving tarsal bones	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0006234	HP:0006234	Osteolysis involving tarsal bones	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent	64

Genes (3) :MAFB MMP14 MMP2

Diseases (4) :OMIM:166300 ORPHA:371428 OMIM:277950 OMIM:259600

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