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 femur morphology (HP:0002823)

Parent Node:
Abnormal femoral neck/head morphology (HP:0003366)

..Starting node
..Hyperplasia of the femoral trochanters (HP:0002822)

Term ID:

2822

Name:

Hyperplasia of the femoral trochanters

Synonym:

Hyperplastic femoral trochanters

Definition:

Comments:

Reference:

HP:0002822

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal femoral head morphology (HP:0003368)

Abnormal femoral neck morphology (HP:0003367)

Abnormal ossification involving the femoral head and neck (HP:0009107)

Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)

Hypoplasia of the lesser trochanter (HP:0008801)

Proximal femoral metaphyseal irregularity (HP:0003411)

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:0002822	HP:0002822	Hyperplasia of the femoral trochanters	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214

Genes (1) :TRPV4

Diseases (1) :OMIM:156530

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