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
..Os odontoideum (HP:0005667)

Term ID:

5667

Name:

Os odontoideum

Synonym:

Definition:

Separation of the odontoid process from the body of the axis.

Comments:

Reference:

HP:0005667

Genes and Diseases:

Child Nodes:

........

Orthotopic os odontoideum (HP:0025375)

........

Dystopic os odontoideum (HP:0040143)

Sister Nodes:

Anteriorly placed odontoid process (HP:0004608)

Duplicated odontoid process (HP:0025374)

Hypoplasia of the odontoid process (HP:0003311)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005667	HP:0005667	Os odontoideum	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA	15
HP:0005667	HP:0040143	Dystopic os odontoideum	1	CL E G H
HP:0005667	HP:0025375	Orthotopic os odontoideum	1	CL E G H

Genes (1) :NMNAT1

Diseases (1) :OMIM:619260

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