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 form of the vertebral bodies (HP:0003312)

Parent Node:
Platyspondyly (HP:0000926)

..Starting node
..Thoracic platyspondyly (HP:0004592)

Term ID:

4592

Name:

Thoracic platyspondyly

Synonym:

Definition:

A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.

Comments:

Reference:

HP:0004592

Genes and Diseases:

Child Nodes:

Sister Nodes:

Biconcave flattened vertebrae (HP:0003321)

Cervical platyspondyly (HP:0004558)

Flattened moderately deformed vertebrae (HP:0005752)

Lumbar platyspondyly (HP:0005787)

Severe platyspondyly (HP:0004565)

Squared-off platyspondyly (HP:0008418)

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:0004592	HP:0004592	Thoracic platyspondyly	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0004592	HP:0004592	Thoracic platyspondyly	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0004592	HP:0004592	Thoracic platyspondyly	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0004592	HP:0004592	Thoracic platyspondyly	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0004592	HP:0004592	Thoracic platyspondyly	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0004592	HP:0004592	Thoracic platyspondyly	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional	2

Genes (6) :COL2A1 FLNB LBR PLCB3 PRKG2 RSPRY1

Diseases (6) :ORPHA:166011 OMIM:108720 OMIM:618019 OMIM:618961 OMIM:619636 ORPHA:457395

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