Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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

Parent Node:
Poorly ossified vertebrae (HP:0100856)

..Starting node
..Poorly ossified cervical vertebrae (HP:0008477)

Term ID:

8477

Name:

Poorly ossified cervical vertebrae

Synonym:

Definition:

Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.

Comments:

Reference:

HP:0008477

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008477	HP:0008477	Poorly ossified cervical vertebrae	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109
HP:0008477	HP:0008477	Poorly ossified cervical vertebrae	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109

Genes (1) :SOX9

Diseases (2) :ORPHA:140 OMIM:114290

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