Human Phenotype Ontology

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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 lower-limb metaphysis morphology (HP:0006490)

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

Parent Node:
Abnormal femoral metaphysis morphology (HP:0006489)

..Starting node
..Proximal femoral metaphyseal abnormality (HP:0006431)

Term ID:

6431

Name:

Proximal femoral metaphyseal abnormality

Synonym:

Abnormal wide portion of innermost thighbone

Definition:

An anomaly of the metaphysis of the proximal femur (close to the hip).

Comments:

Reference:

HP:0006431

Genes and Diseases:

Child Nodes:

........

Proximal femoral metaphyseal irregularity (HP:0003411)

........

Wide proximal femoral metaphysis (HP:0008783)

Sister Nodes:

Broad femoral metaphyses (HP:0006417)

Distal femoral metaphyseal abnormality (HP:0030299)

Flared femoral metaphysis (HP:0002834)

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:0006431	HP:0006431	Proximal femoral metaphyseal abnormality	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0006431	HP:0006431	Proximal femoral metaphyseal abnormality	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040281 - Very frequent	79
HP:0006431	HP:0006431	Proximal femoral metaphyseal abnormality	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0006431	HP:0006431	Proximal femoral metaphyseal abnormality	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0006431	HP:0006431	Proximal femoral metaphyseal abnormality	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0006431	HP:0006431	Proximal femoral metaphyseal abnormality	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0006431	HP:0006431	Proximal femoral metaphyseal abnormality	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0006431	HP:0006431	Proximal femoral metaphyseal abnormality	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0006431	HP:0006431	Proximal femoral metaphyseal abnormality	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3		214
HP:0006431	HP:0006431	Proximal femoral metaphyseal abnormality	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0006431	HP:0003411	Proximal femoral metaphyseal irregularity	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0006431	HP:0003411	Proximal femoral metaphyseal irregularity	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent	79
HP:0006431	HP:0003411	Proximal femoral metaphyseal irregularity	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0006431	HP:0003411	Proximal femoral metaphyseal irregularity	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0006431	HP:0003411	Proximal femoral metaphyseal irregularity	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0006431	HP:0003411	Proximal femoral metaphyseal irregularity	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0006431	HP:0003411	Proximal femoral metaphyseal irregularity	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0006431	HP:0003411	Proximal femoral metaphyseal irregularity	1	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.	214
HP:0006431	HP:0008783	Wide proximal femoral metaphysis	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2

Genes (9) :CFAP410 COL10A1 CSPP1 DNAJC21 KIAA0586 SBDS SRP54 TRPV4 UFSP2

Diseases (7) :OMIM:602271 ORPHA:174 OMIM:156500 ORPHA:397715 OMIM:260400 OMIM:113500 OMIM:142669

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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