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:
Increased bone mineral density (HP:0011001)

Parent Node:
Abnormal diaphysis morphology (HP:0000940)

Parent Node:
Abnormal metatarsal morphology (HP:0001832)

Parent Node:
Sclerosis of foot bone (HP:0100925)

..Starting node
..Metatarsal diaphyseal endosteal sclerosis (HP:0008114)

Term ID:

8114

Name:

Metatarsal diaphyseal endosteal sclerosis

Synonym:

Definition:

Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.

Comments:

Reference:

HP:0008114

Genes and Diseases:

Child Nodes:

Sister Nodes:

Sclerosis of toe phalanx (HP:0100924)

Tarsal sclerosis (HP:0031051)

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:0008114	HP:0008114	Metatarsal diaphyseal endosteal sclerosis	0	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal	.	125

Genes (1) :LRP5

Diseases (1) :OMIM:144750

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