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:
Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)

Grandparent Node:
Limb undergrowth (HP:0009826)

Parent Node:
Lower limb undergrowth (HP:0009816)

..Starting node
..Short lower limbs (HP:0006385)

Term ID:

6385

Name:

Short lower limbs

Synonym:

Short legs; Short lower limbs

Definition:

Shortening of the legs related to developmental hypoplasia of the bones of the leg.

Comments:

Reference:

HP:0006385

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006385	HP:0006385	Short lower limbs	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0006385	HP:0006385	Short lower limbs	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent	1
HP:0006385	HP:0006385	Short lower limbs	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent	284
HP:0006385	HP:0006385	Short lower limbs	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0006385	HP:0006385	Short lower limbs	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102
HP:0006385	HP:0006385	Short lower limbs	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent	9
HP:0006385	HP:0006385	Short lower limbs	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent	16
HP:0006385	HP:0006385	Short lower limbs	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0006385	HP:0006385	Short lower limbs	0	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type	.	52
HP:0006385	HP:0006385	Short lower limbs	0	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent	52
HP:0006385	HP:0006385	Short lower limbs	0	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent	52
HP:0006385	HP:0006385	Short lower limbs	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0006385	HP:0006385	Short lower limbs	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX		39
HP:0006385	HP:0006385	Short lower limbs	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166

Genes (12) :ALPL ARL6IP6 COL2A1 EXT1 EXT2 FN1 GNA11 LAMA5 MMP13 NOG PPIB SLC26A2

Diseases (11) :OMIM:241500 ORPHA:1556 ORPHA:93315 ORPHA:321 OMIM:620076 OMIM:250400 ORPHA:2501 ORPHA:93356 OMIM:186500 OMIM:259440 ORPHA:56304

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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