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:
Abnormality of the cervical spine (HP:0003319)

Parent Node:
Platyspondyly (HP:0000926)

..Starting node
..Cervical platyspondyly (HP:0004558)

Term ID:

4558

Name:

Cervical platyspondyly

Synonym:

Flattened cervical vertebral bodies

Definition:

A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.

Comments:

Reference:

HP:0004558

Genes and Diseases:

Child Nodes:

Sister Nodes:

Biconcave flattened vertebrae (HP:0003321)

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)

Thoracic platyspondyly (HP:0004592)

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:0004558	HP:0004558	Cervical platyspondyly	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0004558	HP:0004558	Cervical platyspondyly	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0004558	HP:0004558	Cervical platyspondyly	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214

Genes (3) :DHX37 FUCA1 TRPV4

Diseases (3) :OMIM:618731 OMIM:230000 ORPHA:93314

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