Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 bone structure (HP:0003330)

Parent Node:
Abnormal patella morphology (HP:0003045)

..Starting node
..Dysplastic patella (HP:0006446)

Term ID:

6446

Name:

Dysplastic patella

Synonym:

Definition:

Comments:

Reference:

HP:0006446

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)

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:0006446	HP:0006446	Dysplastic patella	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68

Genes (1) :CHRNG

Diseases (1) :OMIM:265000

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