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 ossification of vertebral epiphysis (HP:0012711)

Term ID:

12711

Name:

Delayed ossification of vertebral epiphysis

Synonym:

Delayed maturation of the end part of the vertebral bone

Definition:

A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.

Comments:

Reference:

HP:0012711

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent or minimally ossified vertebral bodies (HP:0004599)

Delayed vertebral ossification (HP:0031096)

Supernumerary vertebral ossification centers (HP:0004598)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012711	HP:0012711	Delayed ossification of vertebral epiphysis	0	CL E G H

Genes (0) :

Diseases (0) :

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