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:
Abnormally ossified vertebrae (HP:0100569)

Parent Node:
Absent or minimally ossified vertebral bodies (HP:0004599)

..Starting node
..Unossified vertebral bodies (HP:0004606)

Term ID:

4606

Name:

Unossified vertebral bodies

Synonym:

Definition:

A lack of ossification of the vertebral bodies.

Comments:

Reference:

HP:0004606

Genes and Diseases:

Child Nodes:

........

Absent in utero ossification of vertebral bodies (HP:0008435)

Sister Nodes:

Absent ossification of cervical vertebral bodies (HP:0005885)

Absent ossification of thoracic vertebral bodies (HP:0012792)

Absent vertebral body mineralization (HP:0004605)

Poorly ossified vertebrae (HP:0100856)

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:0004606	HP:0004606	Unossified vertebral bodies	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0004606	HP:0004606	Unossified vertebral bodies	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0004606	HP:0004606	Unossified vertebral bodies	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0004606	HP:0008435	Absent in utero ossification of vertebral bodies	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78

Genes (3) :ALPL BMPER TRIP11

Diseases (3) :OMIM:241500 OMIM:608022 OMIM:200600

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