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:
Abnormal femoral metaphysis morphology (HP:0006489)

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

Parent Node:
Lower-limb metaphyseal irregularity (HP:0030291)

Parent Node:
Proximal femoral metaphyseal abnormality (HP:0006431)

..Starting node
..Proximal femoral metaphyseal irregularity (HP:0003411)

Term ID:

3411

Name:

Proximal femoral metaphyseal irregularity

Synonym:

Irregular proximal femoral metaphyses

Definition:

Irregularity of the normally smooth surface of the proximal metaphysis of the femur.

Comments:

Reference:

HP:0003411

Genes and Diseases:

Child Nodes:

Sister Nodes:

Wide proximal femoral metaphysis (HP:0008783)

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:0003411	HP:0003411	Proximal femoral metaphyseal irregularity	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0003411	HP:0003411	Proximal femoral metaphyseal irregularity	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent	79
HP:0003411	HP:0003411	Proximal femoral metaphyseal irregularity	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0003411	HP:0003411	Proximal femoral metaphyseal irregularity	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0003411	HP:0003411	Proximal femoral metaphyseal irregularity	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0003411	HP:0003411	Proximal femoral metaphyseal irregularity	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0003411	HP:0003411	Proximal femoral metaphyseal irregularity	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0003411	HP:0003411	Proximal femoral metaphyseal irregularity	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.	214

Genes (8) :CFAP410 COL10A1 CSPP1 DNAJC21 KIAA0586 SBDS SRP54 TRPV4

Diseases (5) :OMIM:602271 ORPHA:174 ORPHA:397715 OMIM:260400 OMIM:113500

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