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:
Abnormality of the knee (HP:0002815)

Parent Node:
Abnormal enchondral ossification (HP:0003336)

Parent Node:
Abnormal patella morphology (HP:0003045)

..Starting node
..Delayed patellar ossification (HP:0006454)

Term ID:

6454

Name:

Delayed patellar ossification

Synonym:

Delayed bone maturation of the knee cap; Delayed patellae ossification

Definition:

Formation of bone in the patella later than normal.

Comments:

Reference:

HP:0006454

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the patella (HP:0006498)

Bipartite patella (HP:0010498)

Double-layered patella (HP:0031174)

Dysplastic patella (HP:0006446)

Irregular patellae (HP:0006369)

Lateral displacement of patellae (HP:0006397)

Osteolysis of patellae (HP:0006378)

Patellar dislocation (HP:0002999)

Patellar subluxation (HP:0010499)

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:0006454	HP:0006454	Delayed patellar ossification	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional	284
HP:0006454	HP:0006454	Delayed patellar ossification	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14

Genes (2) :COL2A1 KIF22

Diseases (2) :ORPHA:485 OMIM:603546

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