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:
Metaphyseal widening (HP:0003016)

Parent Node:
Abnormality of femur morphology (HP:0002823)

Parent Node:
Dumbbell-shaped long bone (HP:0000947)

..Starting node
..Dumbbell-shaped femur (HP:0006375)

Term ID:

6375

Name:

Dumbbell-shaped femur

Synonym:

Dumbbell-shaped thighbone

Definition:

The femur is shortened and displays flaring (widening) of the metaphyses.

Comments:

Reference:

HP:0006375

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dumbbell-shaped humerus (HP:0005009)

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:0006375	HP:0006375	Dumbbell-shaped femur	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040282 - Frequent	222
HP:0006375	HP:0006375	Dumbbell-shaped femur	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0006375	HP:0006375	Dumbbell-shaped femur	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional	284
HP:0006375	HP:0006375	Dumbbell-shaped femur	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0006375	HP:0006375	Dumbbell-shaped femur	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II	.	166
HP:0006375	HP:0006375	Dumbbell-shaped femur	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214

Genes (4) :COL11A2 COL2A1 SLC26A2 TRPV4

Diseases (6) :ORPHA:1427 OMIM:156550 ORPHA:485 ORPHA:56304 OMIM:256050 OMIM:156530

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