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:
Abnormality of the vertebral column (HP:0000925)

Parent Node:
Abnormality of the odontoid process (HP:0003310)

..Starting node
..Anteriorly placed odontoid process (HP:0004608)

Term ID:

4608

Name:

Anteriorly placed odontoid process

Synonym:

Definition:

Anterior mislocalization of the dens of the axis.

Comments:

Reference:

HP:0004608

Genes and Diseases:

Child Nodes:

Sister Nodes:

Duplicated odontoid process (HP:0025374)

Hypoplasia of the odontoid process (HP:0003311)

Os odontoideum (HP:0005667)

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:0004608	HP:0004608	Anteriorly placed odontoid process	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0004608	HP:0004608	Anteriorly placed odontoid process	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493

Genes (2) :DKK1 FLNA

Diseases (2) :ORPHA:268882 OMIM:305620

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