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 skeletal morphology (HP:0011842)

Parent Node:
Abnormal growth plate morphology (HP:0025368)

..Starting node
..Thick growth plates (HP:0025369)

Term ID:

25369

Name:

Thick growth plates

Synonym:

Definition:

Increased thickness (dimension along the axis of the bone) of the growth plate.

Comments:

Reference:

HP:0025369

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:0025369	HP:0025369	Thick growth plates	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040281 - Very frequent	79
HP:0025369	HP:0025369	Thick growth plates	0	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent	52
HP:0025369	HP:0025369	Thick growth plates	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040283 - Occasional	217

Genes (3) :COL10A1 MMP13 PHEX

Diseases (3) :ORPHA:174 ORPHA:93356 ORPHA:89936

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