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:
Abnormality of lower limb epiphysis morphology (HP:0006500)

Grandparent Node:
Abnormality of tibia morphology (HP:0002992)

Parent Node:
Abnormality of tibial epiphyses (HP:0006508)

..Starting node
..Abnormality of the proximal tibial epiphysis (HP:0010591)

Term ID:

10591

Name:

Abnormality of the proximal tibial epiphysis

Synonym:

Abnormality of the end part of innermost shankbone; Abnormality of the end part of innermost shinbone

Definition:

Any abnormality of the proximal epiphysis of the tibia.

Comments:

Reference:

HP:0010591

Genes and Diseases:

Child Nodes:

........

Irregular proximal tibial epiphyses (HP:0006456)

........

Small proximal tibial epiphyses (HP:0012284)

Sister Nodes:

Abnormality of the distal tibial epiphysis (HP:0010592)

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:0010591	HP:0010591	Abnormality of the proximal tibial epiphysis	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0010591	HP:0010591	Abnormality of the proximal tibial epiphysis	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0010591	HP:0010591	Abnormality of the proximal tibial epiphysis	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0010591	HP:0010591	Abnormality of the proximal tibial epiphysis	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0010591	HP:0012284	Small proximal tibial epiphyses	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0010591	HP:0006456	Irregular proximal tibial epiphyses	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0010591	HP:0012284	Small proximal tibial epiphyses	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0010591	HP:0012284	Small proximal tibial epiphyses	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0010591	HP:0012284	Small proximal tibial epiphyses	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional

Genes (4) :COL11A1 DLK1 MEG3 RTL1

Diseases (2) :OMIM:154780 ORPHA:96334

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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