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
..Squared-off platyspondyly (HP:0008418)

Term ID:

8418

Name:

Squared-off platyspondyly

Synonym:

Definition:

Comments:

Reference:

HP:0008418

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)

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
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008418	HP:0008418	Squared-off platyspondyly	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional

Genes (1) :DDRGK1

Diseases (1) :ORPHA:93352

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