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 lower-limb metaphysis morphology (HP:0006490)

Grandparent Node:
Abnormality of tibia morphology (HP:0002992)

Parent Node:
Abnormal tibial metaphysis morphology (HP:0006491)

..Starting node
..Peg-like central prominence of distal tibial metaphyses (HP:0006423)

Term ID:

6423

Name:

Peg-like central prominence of distal tibial metaphyses

Synonym:

Definition:

Comments:

Reference:

HP:0006423

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad tibial metaphyses (HP:0006413)

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:0006423	HP:0006423	Peg-like central prominence of distal tibial metaphyses	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60

Genes (1) :AIFM1

Diseases (1) :OMIM:300232

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