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

Parent Node:
Unossified vertebral bodies (HP:0004606)

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

Term ID:

8435

Name:

Absent in utero ossification of vertebral bodies

Synonym:

Definition:

Comments:

Reference:

HP:0008435

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:0008435	HP:0008435	Absent in utero ossification of vertebral bodies	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78

Genes (1) :BMPER

Diseases (1) :OMIM:608022

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