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 metaphysis morphology (HP:0000944)

Parent Node:
Metaphyseal irregularity (HP:0003025)

..Starting node
..Lower-limb metaphyseal irregularity (HP:0030291)

Term ID:

30291

Name:

Lower-limb metaphyseal irregularity

Synonym:

Definition:

Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.

Comments:

Reference:

HP:0030291

Genes and Diseases:

Child Nodes:

........

Proximal femoral metaphyseal irregularity (HP:0003411)

........

Tibial metaphyseal irregularity (HP:0030292)

........

Fibular metaphyseal irregularity (HP:0030293)

........

Distal femoral metaphyseal irregularity (HP:0045079)

Sister Nodes:

Irregular, rachitic-like metaphyses (HP:0005042)

Upper-limb metaphyseal irregularity (HP:0003850)

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:0030291	HP:0030291	Lower-limb metaphyseal irregularity	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0030291	HP:0030291	Lower-limb metaphyseal irregularity	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0030291	HP:0030291	Lower-limb metaphyseal irregularity	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0030291	HP:0030291	Lower-limb metaphyseal irregularity	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0030291	HP:0030291	Lower-limb metaphyseal irregularity	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0030291	HP:0030291	Lower-limb metaphyseal irregularity	0	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0030291	HP:0030291	Lower-limb metaphyseal irregularity	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0030291	HP:0030291	Lower-limb metaphyseal irregularity	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0030291	HP:0030291	Lower-limb metaphyseal irregularity	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0030291	HP:0030291	Lower-limb metaphyseal irregularity	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3		214
HP:0030291	HP:0003411	Proximal femoral metaphyseal irregularity	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0030291	HP:0045079	Distal femoral metaphyseal irregularity	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent	79
HP:0030291	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:0030291	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:0030291	HP:0003411	Proximal femoral metaphyseal irregularity	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0030291	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:0030291	HP:0030293	Fibular metaphyseal irregularity	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0030291	HP:0030292	Tibial metaphyseal irregularity	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0030291	HP:0003411	Proximal femoral metaphyseal irregularity	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0030291	HP:0003411	Proximal femoral metaphyseal irregularity	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0030291	HP:0003411	Proximal femoral metaphyseal irregularity	1	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.	214

Genes (10) :CFAP410 COL10A1 CSPP1 DNAJC21 KIAA0586 RPL13 RSPRY1 SBDS SRP54 TRPV4

Diseases (7) :OMIM:602271 ORPHA:174 ORPHA:397715 OMIM:260400 OMIM:618728 ORPHA:457395 OMIM:113500

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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