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:
Abnormally ossified vertebrae (HP:0100569)

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

..Starting node
..Poorly ossified vertebrae (HP:0100856)

Term ID:

100856

Name:

Poorly ossified vertebrae

Synonym:

Definition:

Decreased ossification of the vertebral bodies.

Comments:

Reference:

HP:0100856

Genes and Diseases:

Child Nodes:

........

Poorly ossified cervical vertebrae (HP:0008477)

Sister Nodes:

Absent ossification of cervical vertebral bodies (HP:0005885)

Absent ossification of thoracic vertebral bodies (HP:0012792)

Absent vertebral body mineralization (HP:0004605)

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:0100856	HP:0100856	Poorly ossified vertebrae	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent	233
HP:0100856	HP:0100856	Poorly ossified vertebrae	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0100856	HP:0100856	Poorly ossified vertebrae	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0100856	HP:0100856	Poorly ossified vertebrae	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0100856	HP:0008477	Poorly ossified cervical vertebrae	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109
HP:0100856	HP:0008477	Poorly ossified cervical vertebrae	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109

Genes (3) :FLNB SOX9 VPS35L

Diseases (4) :ORPHA:1263 ORPHA:140 OMIM:114290 OMIM:619135

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