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
..Absent vertebral body mineralization (HP:0004605)

Term ID:

4605

Name:

Absent vertebral body mineralization

Synonym:

Definition:

A lack of bone mineralization of the vertebral bodies.

Comments:

Reference:

HP:0004605

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent ossification of cervical vertebral bodies (HP:0005885)

Absent ossification of thoracic vertebral bodies (HP:0012792)

Poorly ossified vertebrae (HP:0100856)

Unossified vertebral bodies (HP:0004606)

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:0004605	HP:0004605	Absent vertebral body mineralization	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0004605	HP:0004605	Absent vertebral body mineralization	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284

Genes (1) :COL2A1

Diseases (2) :ORPHA:93296 OMIM:200610

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