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:
Abnormal skeletal morphology (HP:0011842)

Parent Node:
Skeletal dysplasia (HP:0002652)

..Starting node
..Multiple epiphyseal dysplasia (HP:0002654)

Term ID:

2654

Name:

Multiple epiphyseal dysplasia

Synonym:

Definition:

Comments:

Reference:

HP:0002654

Genes and Diseases:

Child Nodes:

Sister Nodes:

Diaphyseal dysplasia (HP:0100252)

Epiphyseal dysplasia (HP:0002656)

Lethal skeletal dysplasia (HP:0005716)

Metaphyseal dysplasia (HP:0100255)

Multiple skeletal anomalies (HP:0005775)

Spondyloepimetaphyseal dysplasia (HP:0002651)

Spondyloepiphyseal dysplasia (HP:0002655)

Spondylometaphyseal dysplasia (HP:0002657)

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:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040281 - Very frequent	284
HP:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040282 - Frequent	65
HP:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040281 - Very frequent	167
HP:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.	72
HP:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.	45
HP:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.	166
HP:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040281 - Very frequent	166
HP:0002654	HP:0002654	Multiple epiphyseal dysplasia	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040281 - Very frequent	46

Genes (10) :COL2A1 COL9A1 EIF2AK3 KIF7 MATN3 PEX7 PHYH RNU4ATAC SLC26A2 TRAPPC2

Diseases (12) :ORPHA:166011 OMIM:614135 OMIM:226980 ORPHA:1667 OMIM:607131 ORPHA:166024 OMIM:607078 OMIM:266500 OMIM:226960 OMIM:226900 ORPHA:93307 ORPHA:93284

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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