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
..Lethal skeletal dysplasia (HP:0005716)

Term ID:

5716

Name:

Lethal skeletal dysplasia

Synonym:

Lethal dwarfism identifiable at birth

Definition:

Comments:

Reference:

HP:0005716

Genes and Diseases:

Child Nodes:

Sister Nodes:

Diaphyseal dysplasia (HP:0100252)

Epiphyseal dysplasia (HP:0002656)

Metaphyseal dysplasia (HP:0100255)

Multiple epiphyseal dysplasia (HP:0002654)

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:0005716	HP:0005716	Lethal skeletal dysplasia	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0005716	HP:0005716	Lethal skeletal dysplasia	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	304
HP:0005716	HP:0005716	Lethal skeletal dysplasia	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0005716	HP:0005716	Lethal skeletal dysplasia	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0005716	HP:0005716	Lethal skeletal dysplasia	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	65
HP:0005716	HP:0005716	Lethal skeletal dysplasia	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0005716	HP:0005716	Lethal skeletal dysplasia	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0005716	HP:0005716	Lethal skeletal dysplasia	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent	166
HP:0005716	HP:0005716	Lethal skeletal dysplasia	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent	133
HP:0005716	HP:0005716	Lethal skeletal dysplasia	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	136

Genes (10) :COL2A1 DYNC2H1 DYNC2I1 DYNC2I2 IFT80 LBR PTH1R SLC26A2 TRIP11 WDR35

Diseases (6) :OMIM:151210 ORPHA:93271 OMIM:215140 ORPHA:50945 ORPHA:93298 ORPHA:93299

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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