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 enchondral ossification (HP:0003336)

Grandparent Node:
Abnormal vertebral morphology (HP:0003468)

Parent Node:
Abnormally ossified vertebrae (HP:0100569)

..Starting node
..Delayed vertebral ossification (HP:0031096)

Term ID:

31096

Name:

Delayed vertebral ossification

Synonym:

Definition:

A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.

Comments:

Reference:

HP:0031096

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent or minimally ossified vertebral bodies (HP:0004599)

Delayed ossification of vertebral epiphysis (HP:0012711)

Supernumerary vertebral ossification centers (HP:0004598)

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:0031096	HP:0031096	Delayed vertebral ossification	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0031096	HP:0031096	Delayed vertebral ossification	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0031096	HP:0031096	Delayed vertebral ossification	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10

Genes (3) :BMPER COL2A1 NKX3-2

Diseases (3) :OMIM:608022 ORPHA:93296 OMIM:613330

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