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 patella morphology (HP:0003045)

..Starting node
..Patellar subluxation (HP:0010499)

Term ID:

10499

Name:

Patellar subluxation

Synonym:

Partial knee cap dislocation; Subluxation of patella

Definition:

The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.

Comments:

Reference:

HP:0010499

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the patella (HP:0006498)

Bipartite patella (HP:0010498)

Delayed patellar ossification (HP:0006454)

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)

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:0010499	HP:0010499	Patellar subluxation	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0010499	HP:0010499	Patellar subluxation	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0010499	HP:0010499	Patellar subluxation	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0010499	HP:0010499	Patellar subluxation	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	HP:0040283 - Occasional	4
HP:0010499	HP:0010499	Patellar subluxation	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0010499	HP:0010499	Patellar subluxation	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7

Genes (6) :COL12A1 DNMT3A FBN2 TBC1D7 USP9X YY1

Diseases (6) :ORPHA:536516 OMIM:615879 OMIM:121050 OMIM:248000 ORPHA:480880 ORPHA:506358

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

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